research in autism spectrum disorder

• Open access
• Published: 10 June 2024

New advances in the diagnosis and treatment of autism spectrum disorders

• Lei Qin 1 ,
• Haijiao Wang 2 ,
• Wenjing Ning 1 ,
• Mengmeng Cui 1 &
• Qian Wang 3  

European Journal of Medical Research volume  29 , Article number:  322 ( 2024 ) Cite this article

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Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders that affect individuals' social interactions, communication skills, and behavioral patterns, with significant individual differences and complex etiology. This article reviews the definition and characteristics of ASD, epidemiological profile, early research and diagnostic history, etiological studies, advances in diagnostic methods, therapeutic approaches and intervention strategies, social and educational integration, and future research directions. The highly heritable nature of ASD, the role of environmental factors, genetic–environmental interactions, and the need for individualized, integrated, and technology-driven treatment strategies are emphasized. Also discussed is the interaction of social policy with ASD research and the outlook for future research and treatment, including the promise of precision medicine and emerging biotechnology applications. The paper points out that despite the remarkable progress that has been made, there are still many challenges to the comprehensive understanding and effective treatment of ASD, and interdisciplinary and cross-cultural research and global collaboration are needed to further deepen the understanding of ASD and improve the quality of life of patients.

Autism spectrum disorders (ASD) are a broad group of neurodevelopmental disorders that affect an individual's social interactions, communication skills, and behavioral patterns [ 1 , 2 ]. The characteristics of ASD vary significantly between individuals, from mild social impairments to severe communication and behavioral problems, a diversity that reflects the use of the term “spectrum” [ 3 ]. Although the exact causes of ASD are not fully understood, research suggests that both genetic and environmental factors play a key role in its development [ 4 ].

Characteristics of ASD

Difficulties in social interaction.

Individuals with ASD often exhibit significant difficulties in social interactions. These difficulties may include difficulty understanding the feelings and intentions of others, maintaining eye contact and facial expressions, and adapting to social norms and expectations. Individuals with ASD may experience challenges in establishing and maintaining friendships, they may not understand the two-way nature of social interactions, or they may feel uncomfortable sharing interests and activities [ 5 ].

Communication disorders

Communication deficits are another core feature of ASD. This may manifest itself in delays in language development, including delays in uttering first words or simple sentences. Some individuals with ASD may not use language to communicate at all. Even among individuals with ASD who have normal language skills, they may have difficulty using language in conversations to communicate thoughts, feelings, or needs. In addition, nonverbal communication, such as the understanding and use of body language and facial expressions, may also be affected [ 6 ].

Repetitive behaviors and interests

Individuals with ASD often display restricted, repetitive patterns of behavior and interests. These may include a strong fixation on specific topics or activities, repetitive body movements (e.g., rocking, clapping), and an overreliance on daily routines. These repetitive behaviors are sometimes seen as a way of self-soothing or as an attempt to control an environment that otherwise feels unpredictable and overwhelming to them [ 7 ].

Sensory sensitivity

Many individuals with ASD have abnormalities in sensory processing and may have very strong or delayed responses to sound, light, touch, taste or odor. For example, some individuals with ASD may find background noises in their everyday environment unusually harsh, or they may not notice pain or other bodily sensations [ 8 ].

Epidemiologic profile of ASD

According to the World Health Organization (WHO), the average prevalence of ASD among children globally is approximately 1% [ 9 ]. However, this figure varies significantly between regions and countries. For example, the Centers for Disease Control and Prevention (CDC) reports that the prevalence of ASD among 8-year-olds in the U.S. is 1 to 54. ASD is significantly more prevalent in males than females, at a ratio of approximately 4:1 [ 10 ]. This gender difference may reflect differences in genetic susceptibility and/or gender bias in the diagnostic process. Early diagnosis is key to improving developmental outcomes for children with ASD. Despite this, many children are not diagnosed by age 3. The CDC reports that most children are first evaluated for ASD by age 4, but diagnosis may occur later. Research suggests that ASD is highly heritable, but multiple genetic variants are associated with disease risk and environmental factors also play a role [ 11 ]. For example, there is an increased risk of ASD in preterm and low birth weight infants. Socioeconomic factors influence ASD diagnosis and treatment access. Families of lower socioeconomic status may face greater challenges, including barriers to accessing early intervention services, etc. ASD is a global public health problem, and its incidence, time to diagnosis, and treatment access are influenced by multiple factors [ 12 ]. Ongoing epidemiologic research and the advancement of a deeper understanding of ASD are critical to the development of effective prevention, diagnosis, and interventions.

Historical background

Early history of research and diagnosis of asd.

The concept of ASD was first clearly defined in the 1940s, when a group of children exhibiting extreme self-isolation and lack of responsiveness to the environment was first described by American psychiatrist Leo Kanner [ 13 ]. Almost simultaneously, Austrian child psychologist Hans Asperger described a similar but higher level of functioning in a condition that came to be known as Asperger’s syndrome [ 14 ]. These two independent studies laid the foundation for the modern understanding of ASD. For the first few decades, ASD was considered extremely rare and was often confused with schizophrenia. Due to a lack of in-depth understanding of ASD, early diagnostic criteria were unclear and treatment was largely limited to behavioral interventions and psychotherapy. Over time, researchers began to pay more attention to the genetic and neurobiological underpinnings of ASD, thus contributing to a more comprehensive understanding of this complex condition. Since the 1990s, the diagnosis of ASD has risen significantly, as diagnostic criteria have continued to be refined and public awareness has increased. This period has also witnessed an increased awareness of the importance of early diagnosis and intervention for ASD, which has led to significant improvements in the prognosis and quality of life for many children and adults with ASD [ 15 ].

Evolution of research paradigms

The research paradigm for ASD has undergone a remarkable evolution since the mid-twentieth century, a process that reflects a deepening of the understanding of ASD as well as advances in scientific research methods [ 16 ]. In the early stages, ASD research focused on behavioral observations and psychoanalysis, when ASD was often mistaken for an emotional disorder due to an indifferent mother. During this period, understanding of ASD was relatively limited and treatments focused primarily on psychotherapy and behavior modification. Into the second half of the twentieth century, with advances in genetics and neuroscience, researchers began to explore the biological basis of ASD. This marked a shift from a psychosocial to a biomedical model, and the focus of research gradually shifted to genetic factors and abnormalities in brain structure and function. Through a large number of family and twin studies, scientists found that ASD has a high genetic predisposition, while neuroimaging studies revealed the specificity of brain development in ASD patients. In the twenty-first century, with the application of bioinformatics and high-throughput gene sequencing technology, the study of ASD has entered a new stage [ 17 ]. Researchers have not only been able to identify specific genetic variants associated with ASD, but have also begun to explore the interaction between environmental factors and genetic susceptibility. In addition, the adoption of interdisciplinary research approaches, such as combining neuroscience, genetics, psychology, and computational modeling, has provided new perspectives for understanding the complexity of ASD.

Recently, the concepts of precision medicine and personalized treatment strategies have been introduced to the study of ASD, aiming to develop customized intervention programs based on each patient’s genetic background and symptom profile. With advances in technology and improved methods of data analysis, future research on ASD is expected to reveal more knowledge about its pathomechanisms and provide more effective support and treatment for patients with ASD.

Etiologic studies

Genetic factors, monogenic genetic cases.

The etiology of ASD is multifactorial, involving a complex interaction of genetic and environmental factors. Although most cases of ASD are thought to be the result of polygenic interactions, there are some cases that are directly associated with variations in a single gene, and these are referred to as monogenic genetic cases. Monogenic genetic cases provide an important window into understanding the genetic basis of ASD, although they represent a relatively small proportion of all ASD cases [ 18 ]. A number of specific genetic syndromes, such as fragile X syndrome, tuberous sclerosis, 15q11-q13 duplication syndrome, and Rett syndrome, have been found to be associated with a higher risk of ASD. These conditions, often caused by mutations or abnormalities in a single gene, can lead to significant differences in brain development and function, thereby increasing the probability of an ASD phenotype. Fragile X syndrome is one of the most common forms of inherited intellectual disability and the single-gene disorder known to be most strongly associated with ASD. It is caused by a repeat expansion on the FMR1 gene [ 19 ]. Tuberous sclerosis (TSC) is an inherited disorder that affects multiple systems and is caused by mutations in the TSC1 or TSC2 genes, and the prevalence of ASD is higher in patients with TSC. 15q11-q13 duplication syndrome (Dupuy 15q syndrome) involves a region of chromosome 15, the duplication of which is associated with an increased risk of ASD [ 20 ]. Rett syndrome, which predominantly affects females, is caused by mutations in the MECP2 gene, and patients often exhibit some of the features of ASD, such as impaired social interactions [ 21 ]. The association of these classical candidate genes with ASD is summarized in Table  1 .

The discovery of these monogenic genetic cases is not only crucial for understanding the genetic mechanisms of ASD, but also potentially valuable for the development of interventional and therapeutic strategies targeting specific genetic variants. However, even in these cases, the expression of the genetic variants showed a degree of heterogeneity, suggesting that the diversity of phenotypic features and clinical manifestations, even in monogenic genetic cases, may be influenced by other genetic and environmental factors. Therefore, an in-depth study of these conditions will not only improve our understanding of the genetic basis of ASD, but also provide clues for the development of more personalized therapeutic strategies.

Multigene interactions

The development of ASD is widely recognized as a result of the interaction of genetic and environmental factors, with polygenic interactions occupying a central position in the genetic background of the disease. Unlike monogenic cases, polygenic interactions involve variants or polymorphisms in multiple genes that together increase the risk of ASD. These genetic variants may contribute a smaller effect in each individual, but when acting together they can significantly increase the probability of ASD development [ 30 ]. Current research suggests that no single gene can explain all cases of ASD. Instead, hundreds of genetic loci have been identified that are associated with an increased risk of ASD. These genes are often involved in key processes such as brain development, neuronal signaling, and intercellular communication, suggesting that ASD involves extensive regulation of brain function and structure. The complexity of multigene interactions means that genetic studies of ASD require large-scale genomic data and sophisticated statistical methods to reveal those genomic variants that increase risk.

Meta-analyses of large-sample genome-wide association studies (GWAS) have identified several consistently replicated ASD risk gene loci, such as those in the chromosomal regions 3p21, 5p14, 7q35, and 20p12. These loci contain genes like CNTN4, CNTNAP2, and NRXN1, which play crucial roles in neurodevelopment and synaptic function, particularly in processes such as synaptic adhesion and neurotransmission. These findings provide a more robust understanding of the genetic architecture of ASD and highlight the importance of integrating genetic findings with functional studies to advance our understanding of the disorder. They also have implications for future research, such as the development of personalized diagnostic and therapeutic strategies based on an individual's genetic profile. Through genome-wide association studies (GWAS) and other genomic approaches, scientists are gradually unraveling the genetic landscape of this complex disease. Understanding the impact of multiple gene interactions on ASD not only helps us understand its genetic basis, but also opens up the possibility of developing personalized treatment and intervention strategies [ 31 ].

Environmental factors

Maternal exposure.

Exposure during pregnancy refers to a mother’s exposure to specific environmental factors or substances during fetal development, which may increase the child's risk of developing ASD in the future. These exposures include certain prescription medications (e.g., anti-seizure medications and opioids), environmental pollutants (e.g., heavy metals and air pollutants), infections (e.g., rubella and influenza viruses), and poor nutrition or deficiencies in specific nutrients (e.g., folic acid). These factors may increase the risk of ASD by affecting fetal brain development and the maturation process of the nervous system. Understanding the effects of exposure during pregnancy can help to take preventive measures to reduce the incidence of ASDs [ 32 ].

Effects of early developmental stages

The early developmental stages of ASD are influenced by a variety of factors that include genetic predisposition, environmental exposures, and early life experiences. During a child's early development, the brain experiences rapid growth and the formation of neural networks. Any disruption during this critical period may interfere with the proper development of brain structure and function, thereby increasing the risk of ASD. For example, very early lack of social interaction, delayed language development or abnormal sensory processing may be early signs of ASD. These developmental abnormalities reflect difficulties in the brain’s nervous system in processing information, making connections and adapting to environmental changes. Early identification and intervention are essential to promote optimal development in children with ASD [ 33 ].

Genetic–environmental interactions

The genetic–environmental interactions are summarized in Fig.  1 . ASD develops as a result of the interaction between genetic and environmental factors, and this interaction reflects the complexity of the combination of genetic background and external environmental factors that influence ASD risk. Specifically, certain genetic susceptibilities may be activated in response to environmental triggers, leading to the development of ASD. For example, genetic variants may make individuals more sensitive to certain environmental exposures (e.g., substance use during pregnancy, environmental pollutants, or maternal nutritional status), which together may increase the risk of ASD by acting on key brain developmental stages [ 34 ]. This complex genetic–environmental interaction underscores the need to understand multifactorial etiological models of ASD and the importance of developing personalized intervention strategies.

Advances in diagnostic methods

Traditional diagnostic methods.

Traditional diagnostic methods for ASD rely heavily on detailed assessments of behavior and developmental history. These assessments are usually conducted by specialized health care providers such as pediatricians, neuropsychologists, or psychiatrists. The diagnostic process encompasses direct observation of the child as well as in-depth interviews with parents or caregivers to gather information about the child's social interactions, communication skills, and behavioral patterns [ 35 ]. Diagnostic tools include, but are not limited to, the Childhood Autism Rating Scale (CARS), the Autism Diagnostic Observation Scale (ADOS), and the Autism Diagnostic Interview-Revised (ADI-R). These tools are designed to identify core symptoms of ASD, such as social communication deficits and repetitive behaviors or interests. In addition, the doctor may perform a series of developmental or cognitive assessments to rule out other conditions that may explain the child’s behavior, such as language disorders or other neurodevelopmental disorders [ 36 ]. While these traditional diagnostic methods are highly effective in recognizing ASD, they rely on subjective assessments and the experience of the professional, and therefore may have some degree of variability. In recent years, with a deeper understanding of ASDs, new diagnostic techniques and methods are being developed and adopted to improve diagnostic accuracy and efficiency.

Latest diagnostic techniques and tools

Genetic testing.

Genetic testing for ASD is a method of identifying risks associated with ASD by analyzing genetic variants in an individual's DNA. This testing looks for specific genetic variants that have been linked by scientific research to the development of ASD. Although the genetic background of ASD is extremely complex, involving multiple genes and the interaction of genes with environmental factors, variants in specific genes have been identified as having a significant impact on ASD risk [ 37 ]. For example, variants in the SHANK3 gene are associated with Phelan–McDermid syndrome, and patients with this syndrome often exhibit ASD features. Variants in the FMR1 gene are responsible for fragile X syndrome, which is the most common single-gene cause of ASD known to be associated with ASD. Mutations in the MECP2 gene have been associated with Rett syndrome, and patients with Rett syndrome often exhibit ASD condition. In addition, variants in the NRXN1 and NLGN3/4 genes have been found to increase the risk of ASD [ 38 ]. Genetic testing can help provide more precise diagnostic information, and in those cases of ASD where the cause is unknown, it may even reveal the underlying genetic cause. This will not only help to understand the genetic mechanisms of ASD, but also provide more targeted intervention and support strategies for patients and families.

Neuroimaging

Neuroimaging techniques in the study of ASD provide a non-invasive way to explore changes in brain structure and function, helping scientists better understand the biological basis of ASD. These techniques include functional magnetic resonance imaging (fMRI), structural magnetic resonance imaging (sMRI), diffusion tensor imaging (DTI), and positron emission tomography (PET). Through these neuroimaging techniques, researchers are able to observe structural and functional differences in specific regions and networks of the brain in individuals with ASD [ 39 ]. For example, fMRI can reveal patterns of brain activity when performing specific tasks, helping to understand the impairments in social, language, and cognitive functioning in individuals with ASD. dTI focuses on the microstructure of the brain’s white matter, revealing the connections of bundles of nerve fibers, which can help to study neural connectivity issues in ASD. PET scans, on the other hand, are able to assess the activity of specific chemicals in the brain, providing clues to study the neurochemical basis of ASD [ 40 ]. With these advanced neuroimaging techniques, researchers will not only be able to delve deeper into the neurodevelopmental abnormalities of ASD, but also identify possible novel therapeutic targets that can provide a scientific basis for developing more effective interventions. However, while these techniques provide valuable perspectives in understanding ASD, a complete understanding of the complexity of the brain remains a challenge for future research.

Early screening methods

Recently, the field of early screening for ASD has witnessed the application of a number of innovative techniques designed to improve the accuracy and convenience of screening. One notable new approach is the use of artificial intelligence (AI) and machine learning techniques to analyze children's behavioral videos and biomarkers. By training algorithms to recognize specific behavioral patterns and physiological signals associated with ASD, these technologies can help physicians and researchers identify potential ASD symptoms earlier [ 41 ]. Another area of innovation is eye-tracking technology, which assesses children’s social and cognitive development by analyzing their eye movement patterns when viewing pictures or videos. Studies have shown that the eye movement patterns of children with ASD while viewing social scenes differ from those of typically developing children, providing a non-invasive window for early screening [ 42 ]. The application of these state-of-the-art technologies not only improves the efficiency and accessibility of early screening, but also provides new perspectives for understanding the complexity and individual differences in ASD [ 43 ]. Although these approaches are still in the research and development stage, they demonstrate the great potential of utilizing technological advances to improve the process of ASD screening and diagnosis. With further validation and refinement of these techniques, it is expected that they will make a significant contribution to the early identification and intervention of ASD in the future.

Treatment approaches and intervention strategies

Behavioral and educational interventions, applied behavior analysis (aba).

Applied behavior analysis (ABA) is an intervention approach based on the principles of behavioral psychology that is widely used in the treatment of children with autism spectrum disorders (ASD). ABA works to understand and improve specific behaviors, particularly to enhance social, communication, academic skills, and daily living skills, while reducing maladaptive behaviors. It helps individuals learn new skills and behaviors by systematically applying reinforcement strategies that encourage and reward desired behaviors [ 44 ]. ABA therapy is highly individualized and customized to each child’s specific needs and abilities. Treatment planning begins with a detailed behavioral assessment to identify target behaviors and intervention strategies. Learned behaviors are then reinforced and cemented through one-on-one teaching sessions using positive reinforcement. ABA also emphasizes the importance of data, which is collected and analyzed on an ongoing basis by the therapist to monitor progress and adjust the treatment plan as necessary [ 45 ]. Research has shown that ABA is an effective way to improve social interactions, communication skills, and learning in children with ASD. Through early and consistent intervention, ABA can significantly improve the independence and overall quality of life of children with ASD. Although ABA treatment requires a commitment of time and resources, the long-term benefits it brings to children with ASD and their families are immeasurable.

Social skills training

Social skills training (SST) for children with autism spectrum disorders (ASD) is an intervention designed to improve their ability to interact socially in everyday life. This training focuses on teaching children with ASD the ability to understand social cues, establish effective communication skills, and develop friendships. Through SST, children learn how to recognize and interpret other people's facial expressions, body language, and social etiquette, which are essential for building positive relationships [ 46 ]. Social skills training typically includes a series of structured instructional activities such as role-playing, social stories, interactive group exercises, and peer modeling. These activities are designed to provide practice in real-world social situations in a supportive and interactive manner, helping children with ASD learn and practice new skills in a safe environment [ 47 ]. In addition, SST can include teaching emotion management and conflict resolution skills to help children with ASD better understand and express their emotions and cope with challenges in social interactions. Through regular and consistent practice, children with ASD can improve their self-confidence, increase their social engagement, and ultimately improve their social competence and quality of life. SST has been shown to be significantly effective in enhancing social adjustment and interpersonal interactions in children with ASD [ 48 ].

Medical treatment

While there is no cure for ASD, certain medications can be used to manage specific symptoms associated with ASD, such as behavioral problems, attention deficits, anxiety, and mood swings that are common in individuals with autism. Medication is often used as part of a comprehensive intervention program designed to improve the quality of life and daily functioning of the patient [ 49 ]. Medications commonly used for ASD symptom management include antipsychotics, antidepressants, stimulants, and anxiolytics. For example, two antipsychotics, risperidone and aripiprazole, have been approved by the FDA for the treatment of stereotypic and aggressive behavior in children and adolescents with ASD. In addition, selective serotonin reuptake inhibitors (SSRIs) may be helpful in managing anxiety and depressive symptoms in individuals with ASD.

Importantly, medication needs to be closely monitored by a physician to ensure the effectiveness and safety of the medications, as they may have side effects. We have summarized the research evidence on the efficacy and safety of commonly used medications in ASD, including antipsychotics for treating irritability and aggression, antidepressants for co-occurring anxiety and depression, and other medications such as stimulants and melatonin. While these medications can be helpful in managing specific symptoms, they also carry potential side effects and risks, such as weight gain, metabolic disturbances, and behavioral activation. Therefore, a thorough diagnostic evaluation, individualized treatment planning, close monitoring, and regular follow-up are essential when considering pharmacotherapy for individuals with ASD. The decision to medicate should be based on an individualized assessment that takes into account the patient’s specific needs, the severity of symptoms, and possible side effects. At the same time, pharmacological treatments are often used in combination with non-pharmacological treatments such as behavioral interventions and educational support to achieve optimal therapeutic outcomes [ 50 ].

Biofeedback and neuromodulation

Biofeedback and neuromodulation are innovative approaches that have been explored in recent years in the treatment of ASD, aiming to reduce ASD symptoms by improving brain function. Biofeedback techniques enable individuals to learn how to control physiological processes that are not normally under conscious control, such as heart rate, muscle tension, and brainwave activity. Through real-time feedback, patients can learn how to regulate their physiology, resulting in improved concentration, reduced anxiety, and improved emotional regulation. Neuromodulation, specifically transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), affects neural activity in the brain through external stimulation. tMS utilizes a magnetic field to affect neuronal activity in specific areas of the brain, while tDCS modulates neuronal excitability by applying a weak electrical current. These methods have been studied for improving social communication skills and reducing stereotypical behaviors in people with ASD [ 51 ].

Biofeedback helps individuals develop self-regulation skills by providing real-time feedback on physiological states, while neuromodulation techniques like TMS and tDCS modulate cortical excitability and neural plasticity in aberrant circuits implicated in ASD. Current research suggests potential benefits of these techniques in improving emotional regulation, social functioning, and cognitive performance, but mixed results highlight the need for larger, well-controlled trials to validate efficacy, safety, and optimal protocols. Despite challenges, these techniques show promise as adjunctive therapies in the comprehensive management of ASD, warranting further research to guide their translation into clinical practice. Although biofeedback and neuromodulation show potential in the treatment of ASD, research on these techniques is currently in its infancy. More clinical trials and studies are needed to evaluate their effectiveness, safety, and long-term effects and to determine which patients may benefit from these interventions. Nevertheless, as non-pharmacologic treatments, they offer promising complementary options to the comprehensive treatment of ASD.

Emerging intervention approaches

Technology-assisted interventions.

Technology-assisted interventions have become an important development in the field of ASD treatment in recent years, providing new ways for children with ASD to learn and communicate. These interventions utilize computers, tablets, smartphone apps, and virtual reality technology to design a range of interactive learning tools and games designed to improve social skills, communication, and cognitive functioning in children with ASD [ 52 ]. A key advantage of technology-assisted interventions is their ability to provide highly personalized learning experiences. Software and applications can be adapted to a child's specific needs and interests, ensuring that learning content is both engaging and appropriate to the individual's developmental level. In addition, the feedback provided by technology is often immediate and consistent, helping children with ASD to better understand and process information. The use of virtual reality technology, by simulating social situations, provides a safe and controlled environment for children with ASD to practice social interaction and problem-solving skills, which is often difficult to achieve in traditional educational and therapeutic settings [ 53 ]. Although technology-assisted interventions have demonstrated great potential, research on their long-term effects and optimal implementation is still ongoing. To maximize the benefits of these tools, it is often recommended that technology-assisted interventions be used in conjunction with other therapeutic approaches to provide a comprehensive intervention program.

Diet and nutrition interventions

Dietary and nutritional interventions have received increasing attention in the treatment of ASD, based on the observed potential link between nutritional imbalances and ASD symptoms. This intervention approach aims to improve the behavioral performance and overall health of children with ASD by optimizing their diet. Specific strategies include restricting certain foods that may exacerbate symptoms, such as gluten and lactose, as well as increasing intake of foods rich in essential nutrients to support brain development and function [ 54 ]. Several studies support the potential benefits of specific dietary interventions, such as implementing a gluten-free lactose-free (GFCF) diet, which may help improve behavioral and digestive symptoms in some children with ASD. In addition, supplementation with omega-3 fatty acids, vitamins, and minerals (e.g., magnesium and zinc) have been proposed as potentially beneficial strategies to support neurologic health and alleviate ASD-related symptoms [ 55 ]. However, the effectiveness of dietary and nutritional interventions may vary by individual and more scientific research is needed to gain a deeper understanding of their long-term effects on children with ASD. Before implementing any dietary intervention, it is recommended to consult with a physician or nutritional expert to ensure that the individual needs of the child are met and to avoid malnutrition. In combination, dietary and nutritional interventions can be used as part of a comprehensive treatment plan for ASD, complementing traditional behavioral and educational interventions.

Social and educational integration

Educational integration of children with asd.

Educational integration of children with ASD is an inclusive educational practice that seeks to integrate children with ASD into the mainstream educational system to learn and grow with their typically developing peers. This integration model emphasizes individualized learning plans and adaptive teaching strategies to meet the unique needs of children with ASD while promoting their social inclusion and emotional development. Through educational integration, children with ASD are provided with opportunities to interact with other children, which is essential for them to learn social skills, enhance their communication abilities, and improve their ability to adapt to society. To support the successful integration of children with ASD, schools often provide special education services such as speech and language therapy, occupational therapy, and behavioral interventions, which take place in classroom settings to ensure their academic and social progress. Educational inclusion is not only beneficial for children with ASD, but it also helps to foster a sense of inclusion and diversity among their peers. By learning and playing together, all children learn to respect and understand differences, laying the foundation for a more inclusive society. However, effective integrated education requires close collaboration among teachers, parents and professionals, as well as the availability of appropriate resources and support systems [ 56 ].

Social integration and employment of adults with ASD

The social integration and employment of adults with ASD is a current focus of attention in ASD research and social services. For many adults with ASD, social integration challenges include establishing stable relationships, participating in community activities, and finding and keeping a job. Although adults with ASD may have unique skills and interests in specific areas, social communication deficits and fixed patterns of behavior may make it difficult for them in traditional work settings. In recent years, more and more organizations and businesses have begun to recognize the value of diversity and inclusion and are working to create work environments that are better suited for adults with ASD. This includes providing flexible work arrangements, clear communication guidelines, and individualized support measures such as workplace co-worker support and professional career counseling. In addition, social service programs and non-profit organizations offer training and job readiness programs specifically designed for adults with ASD to help them develop necessary vocational skills and social competencies. Through these efforts, adults with ASD will not only be able to find jobs that meet their interests and abilities, but also find a place for themselves in society, enhancing their independence and life satisfaction. However, the realization of this goal requires sustained social awareness-raising and the construction of an ASD-friendly environment [ 57 ].

Future research directions

Application of precision medicine in asd treatment.

The application of precision medicine in the treatment of ASD represents a paradigm of a personalized treatment strategy that aims to tailor the treatment plan to each patient's genetic information, biomarkers, history of environmental exposure, and lifestyle factors. The philosophy behind this approach is that, although ASD is classified as a spectrum, each patient's etiology, symptoms, and their severity are different, and therefore treatment should be highly individualized [ 58 , 59 ]. By fully sequencing a patient's genome, scientists and physicians can identify specific genetic variants that may affect ASD symptoms, allowing them to develop targeted treatments. For example, if a particular ASD patient's symptoms are linked to an abnormality in a specific metabolic pathway, that pathway could be modulated through dietary adjustments, nutritional supplements, or specific medications with a view to improving symptoms. In addition, precision medicine involves the consideration of environmental factors and personal behavior to ensure that treatment options are not only scientifically effective, but also appropriate to the patient's lifestyle. Although precision medicine is still in its early stages in the field of ASD, it offers great potential for delivering more personalized and effective treatment regimens, which are expected to significantly improve the quality of life of people with ASD [ 60 ].

Prospects for emerging biotechnologies

Emerging biotechnologies in the field of ASD, such as gene editing, stem cell therapies, and biomarker development, are opening up new possibilities for treating and understanding ASD. Gene editing technologies, particularly the CRISPR-Cas9 system, provide researchers with the means to precisely modify genetic variants associated with ASD, promising to reveal how specific genetic variants affect brain development and function, thereby providing clues for the development of targeted therapies [ 61 ]. Stem cell therapies utilize a patient's own induced pluripotent stem cells (iPSCs) to study the pathomechanisms of ASD by mimicking the neurodevelopmental process in vitro, as well as exploring potential cellular alternative treatments. In addition, the discovery of biomarkers facilitates early diagnosis and monitoring of disease progression, making personalized treatment possible [ 62 ]. In addition, induced pluripotent stem cell (iPSC)-derived brain organoids from ASD patients have emerged as a powerful tool for studying the neurodevelopmental abnormalities associated with ASD. These 3D, self-organizing models recapitulate key features of human brain development in vitro, allowing researchers to investigate the cellular and molecular mechanisms underlying ASD pathogenesis. By comparing brain organoids derived from ASD patients with those from healthy controls, researchers can identify alterations in neuronal differentiation, migration, and connectivity that may contribute to the development of ASD. Moreover, patient-derived brain organoids provide a personalized platform for drug screening and testing, enabling the identification of targeted therapies that can be tailored to an individual's genetic background. This approach has the potential to revolutionize the development of precision medicine strategies for ASD, by providing a more accurate and relevant model system for investigating disease mechanisms and testing novel therapeutic interventions. As the field continues to advance, iPSC-derived brain organoids are expected to play an increasingly important role in unraveling the complex etiology of ASD and guiding the development of personalized treatment strategies [ 63 ]. The development of these technologies has not only improved our understanding of the complex etiology of ASD, but also provided more precise and effective treatment options for ASD patients. Although most of these emerging biotechnologies are still in the research phase, they bring hope and anticipation for the future of ASD treatment and management. As research progresses and technology matures, it is expected that these innovative approaches will bring substantial benefits to individuals with ASD and their families.

Interaction between social policy and ASD research

The interaction between social policy and ASD research is key to achieving better social inclusion and quality of life for individuals with ASD and their families. Effective social policies can provide the necessary financial support and legal framework for ASD research, promoting a deeper understanding of ASD and the development of new treatments. For example, policies can promote collaboration in interdisciplinary research, encourage the use of innovative technologies and methods, and support long-term follow-up studies. In addition, social policies play a crucial role in ensuring that ASD research results are translated into practical applications and that education, employment, and social services are provided to individuals with ASD. Through the development of inclusive education policies, employment assistance programs, and the provision of integrated social services, policies can help individuals with ASD realize their potential and better integrate into society. At the same time, advances in ASD research also provide a scientific basis for the development of more targeted and effective social policies, helping policymakers understand the needs of individuals with ASD and develop more precise support measures. Thus, there is a close interplay between social policy and ASD research, which together have contributed to the advancement of the understanding of ASD and coping strategies.

Limitations of the current research

Although significant progress has been made in ASD research, a number of key limitations remain. First, the etiology of ASD is extremely complex, involving genetic and environmental factors and their interactions, making it extremely challenging to identify specific etiologies and develop targeted treatment strategies. Second, the heterogeneity of ASD is reflected in the extreme variability of symptoms among patients, which makes it difficult to develop uniform diagnostic criteria and treatment approaches. In addition, most studies have focused on children, and adult patients with ASD have been relatively understudied, which limits the understanding of the full lifespan of ASD. In terms of research methodology, most current ASD research relies on small, short-term studies, which may affect the broad applicability of results and the assessment of long-term effectiveness. In addition, although advances in technology have provided new tools for ASD diagnosis and intervention, the popularization and application of these technologies still face economic and resource constraints. Finally, ASD research is unequal across the globe, with far more research conducted in resource-rich countries and regions than in resource-limited areas. This imbalance limits a comprehensive understanding of ASD in different cultural and social contexts. Therefore, to overcome these limitations, more interdisciplinary, cross-cultural, and long-term research, as well as global collaborations, are needed to deepen the understanding of ASD and improve the quality of life of individuals with ASD.

Perspectives on future research

The outlook for future prevention and treatment of ASD points in a more individualized, integrated, and technology-driven direction. With a deeper understanding of the genetic and environmental factors of ASD, it is expected that more targeted interventions and therapeutic strategies will be developed that will be based on an individual's specific genetic background and pathologic characteristics. The application of precision medicine is expected to improve treatment outcomes, reduce unwanted side effects, and optimize resource allocation. Meanwhile, technological advances, particularly artificial intelligence, machine learning, and virtual reality, are expected to revolutionize the way ASDs are diagnosed, monitored, and treated. These technologies are capable of delivering customized learning and treatment programs that enhance the acceptability and effectiveness of interventions. In addition, interdisciplinary research will be strengthened, and social policies and public health strategies will focus more on early screening and intervention, as well as increasing public awareness and understanding of ASD. Most importantly, the future of ASD prevention and treatment will place greater emphasis on the needs of patients and families, promote social integration and employment of patients, and improve their quality of life. As society's awareness of diversity and inclusion increases, individuals with ASD will receive more support and respect and enjoy fuller opportunities for social participation.

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Authors and affiliations.

Department of Rehabilitation, The Second Affiliated Hospital of Shandong First Medical University, Taian, Shandong, China

Lei Qin, Wenjing Ning & Mengmeng Cui

Department of Intensive Care Medicine, Feicheng People’s Hospital, Taian, Shandong, China

Haijiao Wang

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Qin, L., Wang, H., Ning, W. et al. New advances in the diagnosis and treatment of autism spectrum disorders. Eur J Med Res 29 , 322 (2024). https://doi.org/10.1186/s40001-024-01916-2

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Autism Spectrum Disorders Linked to Neurotransmitter Switching in the Brain

Neurobiologists provide new understanding of the origin of environmentally triggered autistic behavior

• Mario Aguilera - [email protected]

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Autism spectrum disorders (ASD) involve mild to severe impairment of social, behavioral and communication abilities. These disorders can significantly impact performance at school, in employment and in other areas of life. However, researchers lack knowledge about how these disorders emerge at early stages of development.

University of California San Diego neurobiologists have found evidence of altered development of the nervous system in mouse models of autism spectrum disorders. They linked environmentally induced forms of ASD to changes in neurotransmitters, the chemical messengers that allow neurons to communicate with each other. They also discovered that manipulating these neurotransmitters at early stages of development can prevent the appearance of autistic-like behaviors.

The study is published August 23, 2024, in the Proceedings of the National Academy of Sciences.

“In seeking the root causes of autism spectrum disorder behaviors in the brain, we found an early change in neurotransmitters that is a good candidate to be the primary cause,” said School of Biological Sciences Professor Nicholas Spitzer of the Department of Neurobiology and Kavli Institute for Brain and Mind. “Getting a handle on the early events that trigger ASD may allow development of new forms of intervention to prevent the appearance of these behaviors.”

ASD diagnoses have been ramping up in recent years, but how these disorders manifest at the critical cellular and molecular levels has not been well understood.

The study’s lead author, Assistant Project Scientist Swetha Godavarthi, and colleagues investigated neurotransmitter expression in the medial prefrontal cortex, a brain area often affected in individuals diagnosed with ASD. They tested the hypothesis that changes in the type of neurotransmitter expressed by neurons in the prefrontal cortex could be responsible for a chemical imbalance that causes ASD-like behaviors.

{/exp:typographee}

Neurotransmitter switching: Mouse models highlight excitatory neurons (red cells) that express the neurotransmitter glutamate while inhibitory neurons (green cells) express the neurotransmitter GABA. Yellow arrowheads indicate inhibitory neurons that have switched their neurotransmitter from GABA to glutamate.

Previous studies had shown an increase in the incidence of ASD in offspring when pregnant women had a heightened immune response or were exposed to certain drugs during the first trimester (environmental forms of ASD). The researchers reproduced ASD in mice by administering mice in utero with these environmental agents. These agents caused the brief loss of the “GABA” neurotransmitter, which is inhibitory, and the gain of the “glutamate” neurotransmitter, which is excitatory, in neonatal mice. Although this GABA-to-glutamate transmitter switch reversed spontaneously after a few weeks, adult mice exhibited altered behaviors of repetitive grooming and diminished social interaction. Overriding this brief early transmitter switch in neonatal mice prevented the development of these autistic-like behaviors in adults.

“Driving expression of GABA in the neurons that have replaced GABA with glutamate prevents the appearance of stereotyped repetitive behavior and reduced social interaction,” said Spitzer. “These findings demonstrate that changing electrical activity and inappropriately exciting neurons at early stages of development can alter the assembly of the nervous system.”

Alterations in neurotransmitter expression at an early stage of development carry implications for other behavioral issues at later stages in life, since the rest of the nervous system is then built upon a platform of defective wiring, similar to a house constructed on an unstable foundation.

In seeking the root causes of autism spectrum disorder behaviors in the brain, we found an early change in neurotransmitters that is a good candidate to be the primary cause.

“Neurotransmitter switching can change the assembly of the nervous system and have a profound impact downstream,” said Spitzer.

The researchers say the new results are consistent with other evidence that altering signaling in the nervous system during the early stages of development can later carry negative consequences as the brain matures.

Authors of the paper include: Swetha Godavarthi, Hui-quan Li, Marta Pratelli and Nicholas Spitzer. The Overland Foundation provided funding for the research.

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Research Studies

Currently Recruiting or Active Research Studies

Please download the document below for our current recruiting studies organized by age range. 

 Study Title

Study description, spark (simons powering autism research) study.

Available in English and Spanish.

If you or your child has a professional diagnosis of autism, Stanford University invites you to learn more about SPARK, a new online research study sponsored by the Simons Foundation Autism Research Initiative. The mission of SPARK is clear: speed up research and advance understanding of autism by creating the nation’s largest autism study. Joining SPARK is simple – register online and provide a DNA sample via a saliva collection kit in the comfort of your own home. Together, we can help spark a better future for all individuals and families affected by autism.

Register  by contacting us at [email protected] or online at www.sparkforautism.org/stanford .

SPARK está trabajando para fomentar la investigación y mejorar nuestra comprensión del autismo. Stanford y más de 30 de las principales escuelas de medicina y centros de investigación del autismo del país forman parte de este esfuerzo.

• Participar en SPARK es gratis y se puede hacer completamente desde casa.
• Muchas de las encuestas de SPARK aportan informes personalizados.
• Los participantes serán notificados en caso de haber otras oportunidades de investigación.
• Los individuos con autismo podrán recibir códigos de regalo de Amazon por un valor de hasta 50 dólares (uno por familia) después de la recepción de sus muestras de saliva.

Para inscribirse en SPARK:  https://sparkforautism.org/Stanford/ES

La inscripción suele llevar unos 20 minutos y puede empezar y parar si lo necesita. Una vez que se registre y complete unos cuestionarios en línea, le enviaremos un kit para recolectar saliva a su domicilio. Para obtener más información, envíe un correo electrónico a [email protected]

Language Treatment Trial for Children with Autism

Researchers at Stanford University are currently recruiting children with autism spectrum disorder to identify MRI-based markers of response to treatment with Pivotal Response Treatment (PRT) targeting language abilities. Children with autism spectrum disorder between the ages of 2 and 4 years 11 months are invited to participate. This study involves up to a 5 month time commitment. The participant must be willing to complete cognitive and behavioral assessments (such as IQ and language testing) and be able to either sleep (young children) or lie still in the scanner during an MRI. After a successful MRI, the participant will be randomized into the PRT trial or DTG (Delayed Treatment Group). PRT will consist of 16 weekly, 60-90 minute sessions of parent training in PRT over a 16 week time period. DTG will consist of your child’s treatments as usual in the community and measurements and questionnaires will need to be filled out on three study visits over the course of the 16 weeks. After completion of the DTG, the participant will be offered PRT parent training sessions similar to the PRT group. There is no cost to participate in the study. If you would like to participate or if you have any questions please call (650) 736-1235 or email:  [email protected]  to discuss the study in more detail. 

2 and 4 years,11 months

Targeting the Neurobiology of Restricted and Repetitive Behaviors in Children with Autism Using N-acetylcysteine Randomized Control Trial

We are recruiting children autism to participate in a study examining the treatment effects of an over-the-counter dietary supplement on the brain.   

Eligibility:  Children with autism spectrum disorder who -

·    are aged between 3 and 12 years old

·    exhibit restricted and repetitive behaviors

·    will drink N-acetyl cysteine dissolved in water

·    will undergo brain scanning (asleep or awake) with magnetic resonance  imaging (MRI)

·    will undergo brain scanning with electroencephalography (EEG)

The study will take place over 3 to 6 visits (some remotely over Zoom) and the approximate time required is about 10 to 12 hours. Individuals that are able to complete both of the MRI/EEG sessions will be compensated $50.

You can find more information about our NAC studies at   https://redcap.link/NACforAutism .

If you have any questions  please call 650-736-1235 or email:  [email protected] .

3 to 12 years

Autism Center of Excellence Sleep Study

Dear Parents,

We are excited to tell you about a new research study for children. We are looking to partner with parents who have children that are between the ages of 4 and 17 years old,  with and without  an Autism Spectrum Disorder (ASD) diagnosis.

What is involved?

• In-person cognitive and behavioral assessments
• Day-time Electroencephalogram (EEG)
• In-home, 2 night sleep monitoring session
• Collection of saliva to measure cortisol and melatonin levels
• Wearing a watch device that tracks sleep and daily activity

What will I receive if I participate?

• Research sleep report and behavioral testing summary upon request
• $50 for each in-person visit to Stanford and $100 for the 2 night in-home sleep assessment

Treatment extension study:

• If your child has ASD, sleep difficulties, and ages 8-17, they may also qualify for sleep medication trials

Interested in participating or want to learn more?  Click Here!

If you would like to reach out to our team directly with any questions, please contact our team below!

Email:  [email protected]

650-498-7215

4 to 17 years

Pregnenolone Randomized Controlled Trial

Neurosteroid Pregnenolone Treatment for Irritability in Adolescents with Autism

Medication treatments for core symptoms of autism spectrum disorder (ASD) continue to be unmet medical needs. The only medications approved by the U.S. Food and Drug Administration (FDA) for the treatment of individuals with ASD are effective in treating irritability and associated aggressive behaviors, but these medications can also cause severe long-term side effects such as diabetes and involuntary motor movements. Therefore, effective medications with more tolerable side effect profiles are highly desirable. This profile is consistent with pregnenolone (PREG). PREG belongs to a new class of hormones known as neurosteroids, which have been shown to be effective in treating various psychiatric conditions including bipolar depression and schizophrenia. As compared to currently FDA-approved medications, our preliminary data suggested that PREG may represent a potentially effective and well-tolerated agent for treating irritability in individuals with ASD. In addition, our experience suggests that PREG might be helpful in improving selected core symptoms such as social deficits and sensory abnormalities of ASD. This study provides the opportunity to further explore the usefulness of PREG in the treatment of irritability and some core symptoms of ASD. We are performing a 12-week randomized double-blind controlled pilot trial to examine the effectiveness of orally administered PREG in reducing irritability and associated behaviors in adolescents with ASD. In this study, we also aim to examine the usefulness of biomarkers (blood levels of neurosteroids, eyetracking and brain wave recording) in predicting treatment response and assessing biologic changes with PREG treatment.

Link to study in Stanford's Clinical Trials Directory

14 to 25 years

Trial of Center-Based vs. In-Home Pivotal Response Treatment (PRT) in Autism (PRT-HvC)

Do you have a child (2-5 years old) with autism and want an intensive center-based or in-home intervention?

Stanford University researchers are recruiting children with autism and their parents to participate in a study examining the effectiveness of a center-based vs. in-home Pivotal Response Treatment (PRT) program in targeting social communication abilities in young children with autism.

Participants must:

• Be diagnosed with Autism Spectrum Disorder
• Be between the ages of 2 years and 5 years 11 months
• Be able to attend 3-hour research treatment sessions 4 days per week and participate in parent training

Based on behavioral screening assessments, children who are eligible will be randomly assigned to either center-based intervention, in-home intervention, or treatment as usual. Those assigned to the treatment-as-usual group will receive treatment after the 16–week period is completed.

Call 650-736-1235 or email [email protected] to learn more.

https://clinicaltrials.gov/ct2/show/NCT04899544 

2 to 5 years

Improving Access to Pivotal Response Treatment (PRT) via Telehealth Parent Training

There is an urgent need for improved access to effective autism treatments. With advances in technology, distance learning models have particular promise for families who cannot access evidence-based parent training locally or may be on long wait-lists for behavioral treatments. Pivotal Response Treatment (PRT) is an established treatment for autism spectrum disorder (ASD); however, a telehealth PRT model has not yet been evaluated in a controlled trial. This study will examine the effects of training parents in PRT via secure video conferencing and investigate 1) whether parents can learn via telehealth to deliver PRT in the home setting (PRT-T) and 2) whether their children will show greater improvement in functional communication skills compared to children in a waitlist control group. Participants will include 40 children age 2 to 5 years with ASD and significant language delay. Eligible children will be randomly assigned to either PRT-T or waiting list. Weekly 60-minute parent training sessions will be delivered for 12 weeks via secure video conferencing software by a PRT-trained study therapist. Link:  https://clinicaltrials.gov/ct2/show/NCT04042337

Note: Participants must live at least 200 miles away from Stanford University (i.e., this study is geared towards out-of-state families or families living at a distance)

A Center Based Randomized Controlled Trial of Pivotal Response Treatment for Preschoolers With Autism

Researchers at Stanford University are currently recruiting children with autism and their parents to participate in a study examining the effectiveness of a center-based Pivotal Response Treatment (PRT) program in targeting social communication abilities in young children with autism. We are currently recruiting children diagnosed with ASD and social communication deficits, aged 2:0 to 3:11 years. Children who are eligible based on behavioral screening assessments will be randomly assigned to either an immediate treatment (PRT) group or a delayed treatment group (DTG). If randomized into the PRT group, the 12-week treatment will consist of a combination of one weekly 60-minute individual parent training session and 12 weekly hours (approximately 3 hours per day for 4 days per week) with your child in a center-based group preschool environment at Stanford University. If randomized into the delayed treatment group, the children will wait 12 weeks to receive the PRT treatment and continue any treatment they are receiving as usual in the community. The cost of clinic-based services varies based on individual family health insurance plans.

For more information, please call (650) 736-1235 or email  [email protected]  to discuss the study in more detail. 

2 and 3 years,11 months

Natural History Study of Individuals with Autism and Germline Heterozygous PTEN Mutations

The goal of this study is to gain a better understanding of PTEN mutation syndromes to identify early markers and ultimately effective interventions for autism spectrum disorder. Individuals 18 months or older are eligible to participate if they have been diagnosed with PTEN hamartoma tumor syndrome. The study involves five visits over a two year period. Three of the visits occur on-site at a study location. The other two visits occur as phone calls. The on-site visits include a blood draw, physical/neurological exams and behavioral testing.

Study Webpage    

18 months and older

Active Studies, not Recruiting

An open-label pilot study of esomeprazole in children with autism.

Researchers at Stanford University are currently examining the effectiveness of esomeprazole in improving social communication deficits in children with Autism Spectrum Disorder (ASD). Esomeprazole is currently FDA-approved for children ages 1 and up for gastroesophageal reflux disease (GERD) and has been identified as a potential treatment for improving social communication in children with ASD. Children with ASD ages 2 through 6 years are invited to participate. The child must be willing to take esomeprazole orally for at least 8 weeks, complete diagnostic and behavioral assessments, and be free of serious medical problems. There is also an optional research blood draw. The study will require visits to Stanford University and the parent/caregiver will be required to complete questionnaires for each visit.

For more information, please go to  https://is.gd/ASDstudy ,  call (650) 736-1235, or email  [email protected] .

2 to 6 years

Vasopressin Treatment Trial for Children with Autism

The purpose of this clinical trial is to investigate the effectiveness of vasopressin nasal spray for treating symptoms associated with autism. Vasopressin is a hormone that is produced naturally within the body and has been implicated in regulating social behaviors. It has been proposed that administration of the hormone may also help improve social functioning in individuals with autism.

Link to study at clinicaltrials.gov

6 to 17 years

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Prevalence of ASD

• About 1 in 36 children has been identified with autism spectrum disorder (ASD) according to estimates from CDC's Autism and Developmental Disabilities Monitoring (ADDM) Network. [Read Article]
• ASD is reported to occur in all racial, ethnic, and socioeconomic groups. [Read Article]
• ASD is nearly 4 times more common among boys than among girls. [Read Article]
• About 1 in 6 (17%) children aged 3–17 years were diagnosed with a developmental disability, as reported by parents, during a study period of 2009–2017. These included autism, attention-deficit/hyperactivity disorder, blindness, and cerebral palsy, among others. [Read Summary]

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Autism spectrum disorder (ASD) is a developmental disability that can cause significant social, communication and behavioral challenges. CDC is committed to continuing to provide essential data on ASD and develop resources that help identify children with ASD as early as possible.

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• Systematic Review
• Open access
• Published: 15 June 2022

Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses

• Shuang Qiu 1 ,
• Yingjia Qiu 2 ,
• Yan Li 3 &
• Xianling Cong   ORCID: orcid.org/0000-0002-5790-4188 1  

Translational Psychiatry volume  12 , Article number:  249 ( 2022 ) Cite this article

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• Autism spectrum disorders

Autism spectrum disorder (ASD) is a class of neurodevelopmental conditions with a large epidemiological and societal impact worldwide. To date, numerous studies have investigated the associations between genetic variants and ASD risk. To provide a robust synthesis of published evidence of candidate gene studies for ASD, we performed an umbrella review (UR) of meta-analyses of genetic studies for ASD (PROSPERO registration number: CRD42021221868). We systematically searched eight English and Chinese databases from inception to March 31, 2022. Reviewing of eligibility, data extraction, and quality assessment were performed by two authors. In total, 28 of 5062 retrieved articles were analyzed, which investigated a combined 41 single nucleotide polymorphisms (SNPs) of nine candidate genes. Overall, 12 significant SNPs of CNTNAP2 , MTHFR , OXTR , SLC25A12 , and VDR were identified, of which associations with suggestive evidence included the C677T polymorphism of MTHFR (under allelic, dominant, and heterozygote models) and the rs731236 polymorphism of VDR (under allelic and homozygote models). Associations with weak evidence included the rs2710102 polymorphism of CNTNAP2 (under allelic, homozygote, and recessive models), the rs7794745 polymorphism of CNTNAP2 (under dominant and heterozygote models), the C677T polymorphism of MTHFR (under homozygote model), and the rs731236 polymorphism of VDR (under dominant and recessive models). Our UR summarizes research evidence on the genetics of ASD and provides a broad and detailed overview of risk genes for ASD. The rs2710102 and rs7794745 polymorphisms of CNTNAP2 , C677T polymorphism of MTHFR , and rs731236 polymorphism of VDR may confer ASD risks. This study will provide clinicians and healthcare decision-makers with evidence-based information about the most salient candidate genes relevant to ASD and recommendations for future treatment, prevention, and research.

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Introduction.

Autism spectrum disorder (ASD) is a group of neurodevelopmental conditions characterized by early-onset dysfunctions in communication, impairments in social interaction, and repetitive and stereotyped behaviors and interests [ 1 ]. Patients develop ASD-related symptoms when they are 12−18 months of age, and diagnosis is generally made at the age of 2 years [ 2 ]. In 2010, 52 million people had been diagnosed with ASD worldwide, which was equivalent to a population prevalence of 7.6 per 1000 or 1 in 132 persons [ 3 ]. ASD is the leading cause of disability in children under 5 years, and people with ASD may require high levels of support, which is costly and thus leads to substantial economic, emotional, and physical burdens on affected families [ 3 ].

Due to the lack of clinical and epidemiological evidence for an ASD cure, researchers have focused on better understanding ASD and advancing risk prediction and prevention [ 3 ]. The causes of ASD are complex and multifactorial, with several associated genes and environmental risk factors [ 4 ]. A previous umbrella review (UR) of environmental risk factors for ASD showed that several maternal factors, including advanced age (≥35 years), chronic hypertension, preeclampsia, gestational hypertension, and being overweight before or during pregnancy, were significantly associated with ASD risk, without any signs of bias [ 5 , 6 ]. Accumulating twin- and family based studies further indicate that genetic factors play critical roles in ASD, such that the concordance rate among monozygotic twins is higher (60–90%) than that among dizygotic twins (0–30%) [ 7 , 8 ]. The heritability of ASD has been estimated to be 50%, indicating that genetic factors are the main contributors to the etiology of ASD [ 8 ].

To date, numerous studies investigating the association between genetic variants and ASD risk have been published [ 9 , 10 , 11 ]. Most of these studies focused on identifying single nucleotide polymorphisms (SNPs) of candidate genes associated with ASD risk. However, these SNP studies had small sample sizes and, therefore, low statistical power to demonstrate statistically significant effects of low-risk susceptibility genes, leading to inconsistent conclusions. Although meta-analyses have been conducted to resolve this problem, single SNPs or genes have usually been investigated.

An UR collects and evaluates multiple systematic reviews and meta-analyses conducted on a specific research topic, provides a robust synthesis of published evidence, and considers the importance of effects found over time [ 12 ]. In addition, the results of UR studies may increase the predictive power with more precise estimates [ 13 ]. Thus, we aimed to perform an UR study of all the systematic reviews and meta-analyses that have been published, assessing candidate genes associated with ASD risk. This study will provide clinicians and healthcare decision-makers with evidence-based information about candidate genes of ASD and recommendations for future prevention and research in less time than would otherwise be required to locate and examine all relevant research individually.

Literature search strategy and eligibility criteria

We systematically searched the PubMed, EMBASE, PsycINFO, Web of Science, Cochrane Library, China National Knowledge Infrastructure, Sinomed, and Wanfang databases from inception to March 31, 2022. The databases were searched using the following strategy: (autis* [All Fields] OR autism* [All Fields] OR autistic* [All Fields] OR ASD [All Fields] OR autism spectrum disorder* [All Fields] OR PDD-NOS [All Fields] OR PDDNOS [All Fields] OR unspecified PDD [All Fields] OR PDD [All Fields] OR pervasive developmental disorder* [All Fields] OR pervasive developmental disorder not otherwise specified [All Fields] OR Asperger* [All Fields] OR Asperger* syndrome [All Fields]) AND (gene* [All Fields] OR genom* [All Fields]) AND (systematic review [All Fields] OR meta-analysis [All Fields]). Authors S. Qiu and Y. Qiu independently conducted literature searches for potential articles included in this review. The references of the relevant articles were manually searched to identify and incorporate eligible studies.

We included meta-analyses of family based and case-control studies that examined associations between ASD and potential risk genes. We only included meta-analyses that reported either effect estimates of individual study or the data necessary to calculate these estimates. We excluded meta-analyses if (1) risk genes were used for screening, diagnostic, or prognostic purposes; (2) a study examined ASD as a risk factor for other medical conditions; (3) a study included fewer than three original studies investigating the association between risk genes and ASD; and (4) a study with missing information after the corresponding author, whom we contacted through email, failed to provide the required information. All articles retrieved were first organized in the reference manager software (Endnote 9, Clarivate Analytics, New York, NY, USA), and duplicates were deleted. S. Qiu and Y. Qiu chose eligible articles by screening the titles, abstracts, and full article texts independently. Disagreements were resolved through a discussion with a third investigator (Y. Li) until a consensus was reached.

Data extraction and quality assessment

From each eligible meta-analysis, we extracted the first author, publication year, genetic risk factors examined, number of studies, number of ASD cases and participants, study-specific relative risk estimates (odds ratio [ OR ]) with the corresponding 95% confidence interval ( CI ), sample size of cases and controls, genotype and allele counts, and individual study designs (case-control, family based or mixed [case-control and family based]). We used the ‘assessment of multiple systematic reviews’ tool, consisting of 11 items, to assess the methodological quality of the meta-analyses [ 14 ]. Data extraction and quality assessment were independently conducted by S. Qiu and Y. Qiu. Disagreements were resolved via a discussion with a third investigator (Y. Li) until a consensus was reached.

Data analysis

In agreement with previous URs, we performed a statistical analysis using a series of tests that were previously developed and reproduced [ 13 , 15 , 16 ]. If more than one meta-analysis on the same research question was eligible, the most recent meta-analysis was retained for the main analysis. For each eligible meta-analysis, we calculated the summary-effect size with 95% CI [ 17 ]. We also calculated the 95% prediction interval ( PI ) to explain the between-study heterogeneity and to assess the uncertainty of a new study [ 18 , 19 ]. Heterogeneity between studies was assessed using the Chi-squared test based Q-statistic and quantified using the I 2 -statistic [ 20 , 21 ]. If there was no substantial statistical heterogeneity ( P  > 0.10, I 2  ≤ 50%), data were pooled using a fixed-effect model; otherwise, heterogeneity was evaluated using a random-effect model [ 22 ]. The Hardy–Weinberg equilibrium (HWE) of meta-analyses in the control group was analyzed using Chi-squared tests. Additionally, small-study effects were evaluated using Egger’s regression asymmetry test. P -values < 0.10 were considered to indicate the presence of small-study effects [ 23 , 24 ]. The Chi-squared test was used to assess the presence of excess significance, which evaluated whether the observed number of studies with significant results ( P  < 0.05) was greater than the expected number [ 22 , 25 ]. All statistical analyses were performed using RStudio 3.6.2. Statistical significance was set at P  < 0.05, except where otherwise specified.

Determining the credibility of evidence

In line with previous URs, we categorized the strength of the evidence of risk genes for ASD into five levels: convincing (class I), highly suggestive (class II), suggestive (class III), weak (class IV), and not significant [ 5 , 26 , 27 , 28 ]. Criteria for the level of evidence included the number of ASD cases, P -values by random effects model, small-study effects, excess significance bias, heterogeneity ( I² ), and 95% CI .

This review was prospectively registered with PROSPERO (registration number: CRD42021221868).

Description of eligible meta-analyses

A total of 5062 articles were identified through an initial search. After removing duplicates, the titles and abstracts of 3182 articles were screened for eligibility. Of the remaining 66 articles that were reviewed in full, 28 eligible articles were selected for data extraction (Fig. 1 ).

Flow chart of literature identification and selection.

The characteristics of the selected studies are presented in Table 1 . Of the 28 included reviews, eight were on methylenetetrahydrofolate reductase ( MTHFR ) [ 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 ]; four each on solute carrier family 6 member 4 ( SLC6A4 ) [ 37 , 38 , 39 , 40 ] and contactin associated protein 2 ( CNTNAP2 ) [ 41 , 42 , 43 , 44 ]; three each on oxytocin receptor ( OXTR ) [ 45 , 46 , 47 ] and reelin ( RELN ) [ 48 , 49 , 50 ]; two each on gamma-aminobutyric acid type A receptor subunit beta3 ( GABRB3 ) [ 51 , 52 ], solute carrier family 25 member 12 ( SLC25A12 ) [ 53 , 54 ], and vitamin D receptor ( VDR ) [ 55 , 56 ]; and one on catechol-o-methyltransferase ( COMT ) [ 39 ] (one meta-analysis was on both COMT and SLC6A4 ). These studies were published from 2008 to 2021 and considered the associations between 41 SNPs in nine candidate genes and ASD risk. For quality assessment, 22 articles that scored 5−8 were rated as ‘moderate quality’, and six that scored < 5 were rated as ‘low quality’. Seventeen studies (60.7%) performed the HWE check (Table 1 ). With respect to the study design, 14 (64.3%) studies synthesized case-control studies, two (7.1%) included family based studies, and eight (28.6%) used both case-control and family based studies (Table 1 ).

Summary-effect sizes and significant findings

The results of the associations between the 41 SNPs and ASD risks reported in the meta-analyses are presented in Table 2 under five different genetic models: allelic model (mutant allele vs. wild-type allele), dominant model (mutant homozygote + heterozygote vs. wild-type homozygote), heterozygote model (heterozygote vs. wild-type homozygote), homozygote model (mutant homozygote vs. wild-type homozygote), and recessive model (mutant homozygote vs. wild-type homozygote + heterozygote).

Only one meta-analysis on the rs2710102 polymorphism of CNTNAP2 showed that the polymorphism was associated with ASD susceptibility in allelic, homozygote, and recessive models [ 44 ]. This meta-analysis also found that the rs7794745 polymorphism of CNTNAP2 was associated with an increased risk of ASD in dominant and heterozygote models [ 44 ].

All four meta-analyses reported no significant association between the A1298C polymorphism of MTHFR and ASD risk. All eight meta-analyses on the C677T polymorphism of MTHFR showed that the polymorphism was associated with ASD susceptibility in allelic and heterozygote models [ 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 ]. Seven meta-analyses found that the C677T polymorphism was associated with an increased risk of ASD in dominant [ 29 , 31 , 32 , 33 , 34 , 35 , 36 ] and homozygote [ 29 , 30 , 31 , 33 , 34 , 35 , 36 ] models. Five meta-analyses found that the C677T polymorphism was associated with an increased risk of ASD in the recessive model [ 29 , 30 , 31 , 33 , 34 ].

For OXTR , 19 SNPs were summarized. LoParo et al. [ 45 ] found that the mutant allele of rs2268491, wild-type allele of rs237887, and mutant allele of rs7632287 were risk-inducing SNPs of ASD. In addition, Kranz et al. [ 46 ] found that the mutant allele of rs237889 was associated with ASD risk.

Regarding SLC25A12 , both Aoki et al. [ 53 ] and Liu et al. [ 54 ] found that the mutant alleles of rs2056202 and rs2292813 significantly increased ASD risk in family-based and mixed studies. We excluded the results of the associations between rs2292813 and ASD risk based on the case-control design reported by Liu et al. [ 54 ], as the authors included only two case–control studies.

Sun et al. [ 55 ] found that the rs2228570 polymorphism of VDR was associated with an increased ASD risk in homozygote and recessive models, while Yang et al. [ 56 ] did not find significant associations in any genetic model. Both authors [ 55 , 56 ] found that the rs731236 polymorphism of VDR was significantly associated with ASD risk in allelic, homozygote, and recessive models. Sun et al. [ 55 ] found that the rs731236 polymorphism was significantly associated with ASD risk in the dominant model. Both Sun et al. [ 55 ] and Yang et al. [ 56 ] found that the mutant allele of rs7975232 of VDR was significantly associated with a decreased ASD risk (Table 2 ). There were no significant SNPs in COMT , GABRB3 , RELN , and SLC6A4 .

When more than one meta-analysis on the same research question was eligible, the most recent one was retained for the main analysis. After comparing the publication year and sample size of each meta-analysis, 11 meta-analyses were retained for further analysis, of which two each study were on RELN and MTHFR , and one each was on CNTNAP2 , COMT , GABRB3 , OXTR , SLC25A12 , SLC6A4 , and VDR . We extracted the allele and genotype frequencies of each SNP in case and control groups from the original research for further analysis. However, the allele and genotype frequencies of some SNPs in the compared groups could not be extracted from the original research that did not contain the information, and we could not obtain this information from the corresponding authors of the studies. Finally, we analyzed the data of 20 SNPs with allele frequencies in 10 meta-analyses from 117 original studies and 16 SNPs with genotype frequencies in eight meta-analyses from 101 original studies. Associations were measured using five different genetic models (Tables 3 , 4 ).

We found that the rs2710102 polymorphism of CNTNAP2 was associated with a decreased ASD risk in the allelic ( OR  = 0.849, 95% CI  = 0.734–0.981, P  = 0.0263), homozygote ( OR  = 0.668, 95% CI  = 0.470–0.950, P  = 0.0248), and recessive ( OR  = 0.715, 95% CI  = 0.563–0.909, P  = 0.0062) models. In addition, we found that the mutant allele of rs7794745 ( CNTNAP2 ) increased ASD risk based on the dominant ( OR  = 1.300, 95% CI  = 1.109–1.523, P  = 0.0012) and heterozygote ( OR  = 1.275, 95% CI  = 1.081–1.504, P  = 0.0039) models. The C677T polymorphism of MTHFR was associated with an increased ASD risk in the allelic ( OR  = 1.799, 95% CI  = 1.303–2.483, P  = 0.0004), dominant ( OR  = 1.959, 95% CI  = 1.402–2.738, P  < 0.0001), heterozygote ( OR  = 1.767, 95% CI  = 1.343–2.330, P  < 0.0001), and homozygote ( OR  = 1.795, 95% CI  = 1.158–2.782, P  = 0.0089) models. The rs607755 polymorphism of RELN was associated with an increased ASD risk in the allelic ( OR  = 1.316, 95% CI  = 1.029–1.683, P  = 0.0284), dominant ( OR  = 1.520, 95% CI  = 1.061–2.178, P  = 0.0226), heterozygote ( OR  = 1.483, 95% CI  = 1.016–2.165, P  = 0.0411), and homozygote ( OR  = 1.816, 95% CI  = 1.051–3.136, P  = 0.0324) models. The rs731236 polymorphism of VDR was associated with an increased ASD risk in the allelic ( OR  = 1.297, 95% CI  = 1.125–1.494, P  = 0.0003), dominant ( OR  = 1.304, 95% CI  = 1.082–1.571, P  = 0.0053), homozygote ( OR  = 1.741, 95% CI  = 1.258–2.409, P  = 0.0008), and recessive ( OR  = 1.613, 95% CI  = 1.187–2.190, P  = 0.0022) models. In addition, we found that the mutant allele of rs7975232 ( VDR ) decreased ASD risk ( OR  = 0.823, 95% CI  = 0.681–0.993, P  = 0.0425) based on the allelic model. There was no significant association between the other SNPs and ASD risk (all P  > 0.05; Table 4 ).

As for the results of PI , the null value was excluded in only four SNPs of rs2710102 ( CNTNAP2 ) under the allelic, homozygote, and recessive models; rs7794745 ( CNTNAP2 ) under the heterozygote model; rs607755 ( RELN ) and rs731236 ( VDR ) under the allelic and homozygote models (Table 4 ). When evaluating small-study effects using Egger’s regression asymmetry test, evidence for statistically significant small-study effects in the meta-analyses was identified in some SNPs. Supporting evidence included a meta-analysis on A1298C ( MTHFR ) under the allelic, dominant, and heterozygote models; a meta-analysis on C677T ( MTHFR ) under the five genetic models; a meta-analysis on rs20317 ( GABRB3 ) under the dominant and heterozygote models; one each on rs736707 ( RELN ) and rs1544410 ( VDR ) under the recessive and allelic models, respectively; and three meta-analyses on rs607755 ( RELN ), 5-HTTLPR ( SLC6A4 ), and rs7975232 ( VDR ) under the heterozygote model ( P  < 0.10).

Hints of excess-statistical-significance bias were observed in rs2710102 ( CNTNAP2 ) under the allelic, homozygote, and recessive models; rs4680 ( COMT ) under the allelic model; rs20317 ( GABRB3 ) under the heterozygote model; A1298C ( MTHFR ) under allelic, dominant, heterozygote, and recessive models; C677T ( MTHFR ) under homozygote and recessive models; rs736707 ( RELN ) under allelic, dominant, and homozygote models; 5-HTTLPR ( SLC6A4 ) under allelic and recessive models; rs11568820 ( VDR ) under the dominant model; and rs731236 ( VDR ) under the heterozygote model, with statistically significant ( P  < 0.05) excess of positive studies (Table 4 ).

We categorized the strength of the evidence of 20 SNPs for ASD into five levels. According to the criteria for the level of evidence, for rs2710102 ( CNTNAP2 ), the P -value based on the random effects model was significant at P  < 0.05 under allelic, homozygote, and recessive models. Between-study heterogeneity was not significant ( P  > 0.10, I²  < 50.0%), the 95% PI did not exclude the null value, and there was no excess significance bias ( P  > 0.05) under the five genetic models. For rs7794745 ( CNTNAP2 ), the P -value based on the random effects model was significant at P  < 0.05 under dominant and heterozygote models. For C677T ( MTHFR ), there was a total of 2147 ASD cases, which was > 1000, and the P -value based on the random effects model was significant at P  < 10 –3 under allelic, dominant, and heterozygote models. Moreover, it was significant at P  < 0.05 under the homozygote model. Between-study heterogeneity was large ( I²  > 50.0%) under the five genetic models, the 95% PI did not exclude the null value under the five genetic models, and there was no excess significance bias ( P  > 0.05) under allelic, dominant, and heterozygote models. For rs731236 ( VDR ), there was a total of 1088 ASD cases, which was >1000, the P -value based on the random effects model was significant at P  < 10 –3 under allelic and homozygote models, and the P -value was significant at P  < 0.05 under dominant and recessive models. Between-study heterogeneity was not significant ( P  > 0.10, I²  < 50.0%), the 95% PI excluded the null value, and there was no small-study effect ( P  > 0.10) and excess significance bias ( P  > 0.05) under the five genetic models (Table 4 ). Thus, the rs2710102 ( CNTNAP2 ) was graded as weak evidence (class IV) under allelic, homozygote, and recessive models; rs7794745 ( CNTNAP2 ) was graded as weak evidence (class IV) under dominant and heterozygote models; the C677T ( MTHFR ) was graded as suggestive evidence (class III) under allelic, dominant, and heterozygote models; C677T ( MTHFR ) was graded as weak evidence (class IV) under the homozygote model; VDR (rs731236) was graded as suggestive evidence (class III) under allelic and homozygote models; and VDR (rs731236) was graded as weak evidence (class IV) under dominant and recessive models.

This UR summarizes evidence on the genetic basis of ASD. Our study design provides a robust and significant synthesis of published evidence and increases the conclusive power with more precise estimates. Overall, 12 significant SNPs of CNTNAP2 , MTHFR , OXTR , SLC25A12 , and VDR were identified from 41 SNPs of nine candidate genes in 28 meta-analyses. Of those, associations with suggestive evidence (class III) were the C677T polymorphism of MTHFR (under allelic, dominant, and heterozygote models) and rs731236 polymorphism of VDR (under allelic and homozygote models). Associations with weak evidence (class IV) were the rs2710102 polymorphism of CNTNAP2 (under allelic, homozygote, and recessive models), rs7794745 polymorphism of CNTNAP2 (under dominant and heterozygote models), C677T polymorphism of MTHFR (under homozygote model), and rs731236 polymorphism of VDR (under dominant and recessive models).

ASD remains a ‘disease of theories’, as multiple genes and environmental risk factors are probably involved in its pathogenesis. However, to date, the etiology and pathological mechanism of ASD are still unknown [ 57 ]. The genetic architecture of ASD is complex. Moreover, most research in this field has focused on candidate genes, primarily those with a plausible role in the known underlying pathophysiology, including mitochondrial dysfunction, abnormal neurodevelopment, and dysfunction of synapse formation and stability during neurodevelopment [ 58 , 59 ].

CNTNAP2 is a member of neurexin superfamily and is a synaptic protein [ 60 ]. It plays a major role in neural development, crucial for neural circuit assembly [ 61 ]. CNTNAP2 mutations may be linked to the abnormal behavior of ASD by altering synaptic neurotransmission, functional connectivity, and neuronal network activity [ 61 , 62 ]. The rs2710102 and rs7794745 are two common non-coding variants in CNTNAP2 , with four and three meta-analyses reporting the associations with ASD, respectively. The results of the meta-analysis by Uddin et al. were inconsistent with the other authors’ [ 44 ]. We further re-analyzed and categorized the strengths of evidence. Both the rs2710102 and rs7794745 polymorphisms of CNTNAP2 were associated with decreased risk of ASD. The rs2710102 was graded as having a weak association with ASD under allelic, homozygote, and recessive models. The rs7794745 was graded as having a weak association with ASD under dominant and heterozygote models. Therefore, it is likely that the rs2710102 and rs7794745 polymorphisms of CNTNAP2 influence the risk of ASD.

MTHFR is one of the most frequently-researched genes in ASD, with four and eight meta-analyses for A1298C [ 29 , 31 , 32 , 33 ] and C667T [ 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 ] polymorphisms, respectively. The A1298C and C667T polymorphisms of MTHFR are associated with reduced enzymatic activity, which affects folate metabolism, and, consequently, fetal brain development [ 29 , 32 , 33 ]. Dysfunction of the brain is indicated in ASD etiology; thus, MTHFR has been the focal point of investigation in this disorder. The meta-analysis by Li et al. was selected because it was the most recent among the examined meta-analyses [ 34 ]. The genotype distributions of the A1298C and C667T polymorphisms of MTHFR in the control group were not found in the HWE, which may be due to selection bias, population stratification, and genotyping errors within the original studies. We found no significant association between the A1298C polymorphism of MTHFR and ASD risk in the five genetic models, which was consistent with the four meta-analyses, indicating that the A1298C polymorphism of MTHFR may not be a risk SNP of ASD. We found that the C667T polymorphism of MTHFR was associated with an increased risk of ASD, graded as having suggestive association under allelic, dominant, and heterozygote models and weak association under the homozygote model. Thus, the C667T polymorphism of MTHFR may confer ASD risk.

OXTR, a neuropeptide gene, is also one of the most frequently-studied genes associated with ASD [ 45 ]. Oxytocin plays an important role in a range of human behaviors, including affiliative behavior to social bonding, and is differentially expressed in the blood of individuals with autism compared to that of non-autistic individuals [ 45 , 63 ]. Three meta-analyses investigated 19 SNPs and ASD risk. Of these, only rs2254298 and rs53576 were analyzed in two meta-analyses [ 45 , 46 ], and the remaining SNPs were unique in one meta-analysis. Three SNPs (rs2268491, rs237887, and rs7632287) were significantly associated with ASD risk [ 45 , 46 ]; however, we failed to determine the credibility of the evidence because of the lack of original data.

RELN encodes a large secreted extracellular matrix protein considered to be involved in neuronal migration, brain structure construction, synapse formation, and stability during neurodevelopment [ 59 ]. Fatemi et al. found decreased levels of reelin mRNA and protein and increased levels of reelin receptors in the brain and plasma of individuals with autism [ 64 ]. Dysfunction of the reelin signaling pathway has been found in ASD, schizophrenia, epilepsy, bipolar disorder, mental retardation, depression, Alzheimer’s disease, and lissencephaly [ 59 , 65 ]. Genetic association studies have been conducted to investigate the associations between SNPs within RELN and ASD with conflicting results. None of the three meta-analyses found significant associations [ 48 , 49 , 50 ]. The meta-analysis by Hernández-García et al. was retained for further analysis of the original studies after comparing publication years and sample sizes of the three meta-analyses [ 50 ]. Hernández-García et al. did not find a significant association between RELN and ASD risk [ 50 ]. In our analysis, because there was no substantial statistical heterogeneity under the five genetic models (all P  > 0.10, I 2  ≤ 50%), a fixed model was applied to pool the effect size. We found that the rs607755 of RELN was associated with ASD risk in allelic, dominant, heterozygote, and homozygote models. This inconsistent result was caused by different pooling methods, indicating that it is necessary to perform an UR to provide a robust synthesis of published evidence and evaluate the importance of genetic factors related to ASD. Our UR results showed that the rs607755 of RELN was not significant when we categorized the strength of the evidence. Thus, it may not be a risk factor for ASD.

SLC25A12 encodes the mitochondrial aspartate/glutamate carrier of the brain, a calcium-binding solute carrier located in the inner mitochondrial membrane that is expressed principally in the heart, brain, and skeletal muscle [ 66 , 67 ]. Rossignol et al. found that individuals with ASD had a significantly higher prevalence of mitochondrial diseases than that of controls, indicating the involvement of mitochondrial dysfunction in ASD [ 58 ]. Thus, an increasing number of genetic studies on ASD have focused on SLC25A12 . However, the results on the association between SNPs of SLC25A12 and ASD risk are inconsistent. Two meta-analyses were performed by Aoki et al. [ 53 ] and Liu et al. [ 54 ], and despite differences in the number of studies between the two meta-analyses, both found a higher risk of ASD in individuals with the mutant allele of rs2056202 or rs2292813. However, we failed to determine the credibility of the evidence because of a lack of original data.

Vitamin D plays a significant role in brain homeostasis, neurodevelopment, and immunological modulation, and its deficiency has been reported in children with ASD [ 68 ]. Hence, changes in the genes involved in the transport or binding of vitamin D may be associated with ASD risk. Notably, vitamin D exerts its effects on genes via the VDR gene, to which changes may be an underlying risk factor for ASD. Sun et al. [ 55 ] and Yang et al. [ 56 ] performed meta-analyses to pool the effect size of inconsistent conclusions from original studies on the associations between SNPs in VDR and ASD risks. We further re-analyzed and categorized the strengths of evidence. The rs731236 polymorphism of VDR was associated with an increased risk of ASD, graded as having a suggestive association under allelic and homozygote models and a weak association under dominant and recessive models without small-study effects, excess significance bias, and large heterogeneity. It is likely that the VDR rs731236 polymorphism influences the risk of ASD.

Our study has some limitations. First, associations between several SNPs and ASD risks under five genetic models or in different populations were not fully assessed in our UR, partly due to insufficient original data. Second, our UR is limited by significant heterogeneity that may be caused by population stratification, study design, and differences in the pattern of linkage disequilibrium structure. Finally, ASD is a complex disorder with different causative factors (multiple genetic and environmental factors). We did not investigate the involvement of environmental factors in ASD. Despite these limitations above, our UR includes its prospective registration with PROSPERO, an extensive search strategy, clear criteria of inclusion and exclusion, duplicated processing by two authors, accurate quality assessment, systematic assessment and critical comparison of meta-analyses, and consistent standards for re-analysis of original data.

In conclusion, our UR summarizes evidence on the genetics of ASD and provides a broad and detailed overview of risk genes for ASD. The rs2710102 and rs7794745 polymorphisms of CNTNAP2 , C677T polymorphism of MTHFR , and rs731236 polymorphism of VDR may confer ASD risk. This study will aid clinicians in decision-making through the use of evidence-based information on the most salient candidate genes relevant to ASD and recommendations for future treatment, prevention, and research.

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Acknowledgements

This study was funded by the Science and Technology Department of Jilin Province (grant number: 20200601010JC).

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Department of Biobank, China-Japan Union Hospital, Jilin University, Changchun, 130033, Jilin, China

Shuang Qiu & Xianling Cong

China-Japan Union Hospital, Jilin University, Changchun, 130033, Jilin, China

Yingjia Qiu

Department of Epidemiology, School of Public Health, Beihua University, Jilin, 132013, Jilin, China

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Study design: S.Q. and X.C. Data collection, analysis, and interpretation: S.Q., Y.Q., and Y.L. Drafting of the manuscript: S.Q. Critical revision of the manuscript: X.C. Approval of the final version for publication: all co-authors.

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Correspondence to Xianling Cong .

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Qiu, S., Qiu, Y., Li, Y. et al. Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses. Transl Psychiatry 12 , 249 (2022). https://doi.org/10.1038/s41398-022-02009-6

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Received : 08 January 2022

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Accepted : 27 May 2022

Published : 15 June 2022

DOI : https://doi.org/10.1038/s41398-022-02009-6

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Autism Spectrum Disorder

What is asd.

Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects how people interact with others, communicate, learn, and behave. Although autism can be diagnosed at any age, it is described as a “developmental disorder” because symptoms generally appear in the first 2 years of life.

According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) , a guide created by the American Psychiatric Association that health care providers use to diagnose mental disorders, people with ASD often have:

• Difficulty with communication and interaction with other people
• Restricted interests and repetitive behaviors
• Symptoms that affect their ability to function in school, work, and other areas of life

Autism is known as a “spectrum” disorder because there is wide variation in the type and severity of symptoms people experience.

People of all genders, races, ethnicities, and economic backgrounds can be diagnosed with ASD. Although ASD can be a lifelong disorder, treatments and services can improve a person’s symptoms and daily functioning. The American Academy of Pediatrics recommends that all children receive screening for autism. Caregivers should talk to their child’s health care provider about ASD screening or evaluation.

What are the signs and symptoms of ASD?

The list below gives some examples of common types of behaviors in people diagnosed with ASD. Not all people with ASD will have all behaviors, but most will have several of the behaviors listed below.

Social communication / interaction behaviors may include:

• Making little or inconsistent eye contact
• Appearing not to look at or listen to people who are talking
• Infrequently sharing interest, emotion, or enjoyment of objects or activities (including infrequent pointing at or showing things to others)
• Not responding or being slow to respond to one’s name or to other verbal bids for attention
• Having difficulties with the back and forth of conversation
• Often talking at length about a favorite subject without noticing that others are not interested or without giving others a chance to respond
• Displaying facial expressions, movements, and gestures that do not match what is being said
• Having an unusual tone of voice that may sound sing-song or flat and robot-like
• Having trouble understanding another person’s point of view or being unable to predict or understand other people’s actions
• Difficulties adjusting behaviors to social situations
• Difficulties sharing in imaginative play or in making friends

Restrictive / repetitive behaviors may include:

• Repeating certain behaviors or having unusual behaviors, such as repeating words or phrases (a behavior called echolalia)
• Having a lasting intense interest in specific topics, such as numbers, details, or facts
• Showing overly focused interests, such as with moving objects or parts of objects
• Becoming upset by slight changes in a routine and having difficulty with transitions
• Being more sensitive or less sensitive than other people to sensory input, such as light, sound, clothing, or temperature

People with ASD may also experience sleep problems and irritability.

People on the autism spectrum also may have many strengths, including:

• Being able to learn things in detail and remember information for long periods of time
• Being strong visual and auditory learners
• Excelling in math, science, music, or art

What are the causes and risk factors for ASD?

Researchers don’t know the primary causes of ASD, but studies suggest that a person’s genes can act together with aspects of their environment to affect development in ways that lead to ASD. Some factors that are associated with an increased likelihood of developing ASD include:

• Having a sibling with ASD
• Having older parents
• Having certain genetic conditions (such as Down syndrome or Fragile X syndrome)
• Having a very low birth weight

How is ASD diagnosed?

Health care providers diagnose ASD by evaluating a person’s behavior and development. ASD can usually be reliably diagnosed by age 2. It is important to seek an evaluation as soon as possible. The earlier ASD is diagnosed, the sooner treatments and services can begin.

Diagnosis in young children

Diagnosis in young children is often a two-stage process.

Stage 1: General developmental screening during well-child checkups

Every child should receive well-child check-ups with a pediatrician or an early childhood health care provider. The American Academy of Pediatrics recommends that all children receive screening for developmental delays at their 9-, 18-, and 24- or 30-month well-child visits, with specific autism screenings at their 18- and 24-month well-child visits. A child may receive additional screening if they have a higher likelihood of ASD or developmental problems. Children with a higher likelihood of ASD include those who have a family member with ASD, show some behaviors that are typical of ASD, have older parents, have certain genetic conditions, or who had a very low birth weight.

Considering caregivers’ experiences and concerns is an important part of the screening process for young children. The health care provider may ask questions about the child’s behaviors and evaluate those answers in combination with information from ASD screening tools and clinical observations of the child. Read more about screening instruments   on the Centers for Disease Control and Prevention (CDC) website.

If a child shows developmental differences in behavior or functioning during this screening process, the health care provider may refer the child for additional evaluation.

Stage 2: Additional diagnostic evaluation

It is important to accurately detect and diagnose children with ASD as early as possible, as this will shed light on their unique strengths and challenges. Early detection also can help caregivers determine which services, educational programs, and behavioral therapies are most likely to be helpful for their child.

A team of health care providers who have experience diagnosing ASD will conduct the diagnostic evaluation. This team may include child neurologists, developmental pediatricians, speech-language pathologists, child psychologists and psychiatrists, educational specialists, and occupational therapists.

The diagnostic evaluation is likely to include:

• Medical and neurological examinations
• Assessment of the child’s cognitive abilities
• Assessment of the child’s language abilities
• Observation of the child’s behavior
• An in-depth conversation with the child’s caregivers about the child’s behavior and development
• Assessment of age-appropriate skills needed to complete daily activities independently, such as eating, dressing, and toileting

Because ASD is a complex disorder that sometimes occurs with other illnesses or learning disorders, the comprehensive evaluation may include:

• Blood tests
• Hearing test

The evaluation may lead to a formal diagnosis and recommendations for treatment.

Diagnosis in older children and adolescents

Caregivers and teachers are often the first to recognize ASD symptoms in older children and adolescents who attend school. The school’s special education team may perform an initial evaluation and then recommend that a child undergo additional evaluation with their primary health care provider or a health care provider who specialize in ASD.

A child’s caregivers may talk with these health care providers about their child’s social difficulties, including problems with subtle communication. For example, some children may have problems understanding tone of voice, facial expressions, or body language. Older children and adolescents may have trouble understanding figures of speech, humor, or sarcasm. They also may have trouble forming friendships with peers.

Diagnosis in adults

Diagnosing ASD in adults is often more difficult than diagnosing ASD in children. In adults, some ASD symptoms can overlap with symptoms of other mental health disorders, such as anxiety disorder or attention-deficit/hyperactivity disorder (ADHD).

Adults who notice signs of ASD should talk with a health care provider and ask for a referral for an ASD evaluation. Although evaluation for ASD in adults is still being refined, adults may be referred to a neuropsychologist, psychologist, or psychiatrist who has experience with ASD. The expert will ask about:

• Social interaction and communication challenges
• Sensory issues
• Repetitive behaviors
• Restricted interests

The evaluation also may include a conversation with caregivers or other family members to learn about the person’s early developmental history, which can help ensure an accurate diagnosis.

Receiving a correct diagnosis of ASD as an adult can help a person understand past challenges, identify personal strengths, and find the right kind of help. Studies are underway to determine the types of services and supports that are most helpful for improving the functioning and community integration of autistic transition-age youth and adults.

What treatment options are available for ASD?

Treatment for ASD should begin as soon as possible after diagnosis. Early treatment for ASD is important as proper care and services can reduce individuals’ difficulties while helping them build on their strengths and learn new skills.

People with ASD may face a wide range of issues, which means that there is no single best treatment for ASD. Working closely with a health care provider is an important part of finding the right combination of treatment and services.

A health care provider may prescribe medication to treat specific symptoms. With medication, a person with ASD may have fewer problems with:

• Irritability
• Repetitive behavior
• Hyperactivity
• Attention problems
• Anxiety and depression

Read more about the latest medication warnings, patient medication guides, and information on newly approved medications at the Food and Drug Administration (FDA) website  .

Behavioral, psychological, and educational interventions

People with ASD may be referred to a health care provider who specializes in providing behavioral, psychological, educational, or skill-building interventions. These programs are often highly structured and intensive, and they may involve caregivers, siblings, and other family members. These programs may help people with ASD:

• Learn social, communication, and language skills
• Reduce behaviors that interfere with daily functioning
• Increase or build upon strengths
• Learn life skills for living independently

Other resources

Many services, programs, and other resources are available to help people with ASD. Here are some tips for finding these additional services:

• Contact your health care provider, local health department, school, or autism advocacy group to learn about special programs or local resources.
• Find an autism support group. Sharing information and experiences can help people with ASD and their caregivers learn about treatment options and ASD-related programs.
• Record conversations and meetings with health care providers and teachers. This information may help when it’s time to decide which programs and services are appropriate.
• Keep copies of health care reports and evaluations. This information may help people with ASD qualify for special programs.

How can I find a clinical trial for ASD?

Clinical trials are research studies that look at new ways to prevent, detect, or treat diseases and conditions. The goal of clinical trials is to determine if a new test or treatment works and is safe. Although individuals may benefit from being part of a clinical trial, participants should be aware that the primary purpose of a clinical trial is to gain new scientific knowledge so that others may be better helped in the future.

Researchers at NIMH and around the country conduct many studies with patients and healthy volunteers. We have new and better treatment options today because of what clinical trials uncovered years ago. Be part of tomorrow’s medical breakthroughs. Talk to your health care provider about clinical trials, their benefits and risks, and whether one is right for you.

To learn more or find a study, visit:

• NIMH’s Clinical Trials webpage : Information about participating in clinical trials
• Clinicaltrials.gov: Current Studies on ASD  : List of clinical trials funded by the National Institutes of Health (NIH) being conducted across the country

Where can I learn more about ASD?

Free brochures and shareable resources.

• Autism Spectrum Disorder : This brochure provides information about the symptoms, diagnosis, and treatment of ASD. Also available  en español .
• Digital Shareables on Autism Spectrum Disorder : Help support ASD awareness and education in your community. Use these digital resources, including graphics and messages, to spread the word about ASD.

Federal resources

• Eunice Kennedy Shriver National Institute of Child Health and Human Development  
• National Institute of Neurological Disorders and Stroke  
• National Institute on Deafness and Other Communication Disorders  
• Centers for Disease Control and Prevention   (CDC)
• Interagency Autism Coordinating Committee  
• MedlinePlus   (also available en español  )

Research and statistics

• Science News About Autism Spectrum Disorder : This NIMH webpage provides press releases and announcements about ASD.
• Research Program on Autism Spectrum Disorders : This NIMH program supports research focused on the characterization, pathophysiology, treatment, and outcomes of ASD and related disorders.
• Statistics: Autism Spectrum Disorder : This NIMH webpage provides information on the prevalence of ASD in the U.S.
• Data & Statistics on Autism Spectrum Disorder   : This CDC webpage provides data, statistics, and tools about prevalence and demographic characteristics of ASD.
• Autism and Developmental Disabilities Monitoring (ADDM) Network   : This CDC-funded program collects data to better understand the population of children with ASD.
• Biomarkers Consortium - The Autism Biomarkers Consortium for Clinical Trials (ABC-CT)   : This Foundation for the National Institutes of Health project seeks to establish biomarkers to improve treatments for children with ASD.

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• Patient Care & Health Information
• Diseases & Conditions
• Autism spectrum disorder

Autism spectrum disorder is a condition related to brain development that impacts how a person perceives and socializes with others, causing problems in social interaction and communication. The disorder also includes limited and repetitive patterns of behavior. The term "spectrum" in autism spectrum disorder refers to the wide range of symptoms and severity.

Autism spectrum disorder includes conditions that were previously considered separate — autism, Asperger's syndrome, childhood disintegrative disorder and an unspecified form of pervasive developmental disorder. Some people still use the term "Asperger's syndrome," which is generally thought to be at the mild end of autism spectrum disorder.

Autism spectrum disorder begins in early childhood and eventually causes problems functioning in society — socially, in school and at work, for example. Often children show symptoms of autism within the first year. A small number of children appear to develop normally in the first year, and then go through a period of regression between 18 and 24 months of age when they develop autism symptoms.

While there is no cure for autism spectrum disorder, intensive, early treatment can make a big difference in the lives of many children.

Products & Services

• Children’s Book: My Life Beyond Autism

Some children show signs of autism spectrum disorder in early infancy, such as reduced eye contact, lack of response to their name or indifference to caregivers. Other children may develop normally for the first few months or years of life, but then suddenly become withdrawn or aggressive or lose language skills they've already acquired. Signs usually are seen by age 2 years.

Each child with autism spectrum disorder is likely to have a unique pattern of behavior and level of severity — from low functioning to high functioning.

Some children with autism spectrum disorder have difficulty learning, and some have signs of lower than normal intelligence. Other children with the disorder have normal to high intelligence — they learn quickly, yet have trouble communicating and applying what they know in everyday life and adjusting to social situations.

Because of the unique mixture of symptoms in each child, severity can sometimes be difficult to determine. It's generally based on the level of impairments and how they impact the ability to function.

Below are some common signs shown by people who have autism spectrum disorder.

Social communication and interaction

A child or adult with autism spectrum disorder may have problems with social interaction and communication skills, including any of these signs:

• Fails to respond to his or her name or appears not to hear you at times
• Resists cuddling and holding, and seems to prefer playing alone, retreating into his or her own world
• Has poor eye contact and lacks facial expression
• Doesn't speak or has delayed speech, or loses previous ability to say words or sentences
• Can't start a conversation or keep one going, or only starts one to make requests or label items
• Speaks with an abnormal tone or rhythm and may use a singsong voice or robot-like speech
• Repeats words or phrases verbatim, but doesn't understand how to use them
• Doesn't appear to understand simple questions or directions
• Doesn't express emotions or feelings and appears unaware of others' feelings
• Doesn't point at or bring objects to share interest
• Inappropriately approaches a social interaction by being passive, aggressive or disruptive
• Has difficulty recognizing nonverbal cues, such as interpreting other people's facial expressions, body postures or tone of voice

Patterns of behavior

A child or adult with autism spectrum disorder may have limited, repetitive patterns of behavior, interests or activities, including any of these signs:

• Performs repetitive movements, such as rocking, spinning or hand flapping
• Performs activities that could cause self-harm, such as biting or head-banging
• Develops specific routines or rituals and becomes disturbed at the slightest change
• Has problems with coordination or has odd movement patterns, such as clumsiness or walking on toes, and has odd, stiff or exaggerated body language
• Is fascinated by details of an object, such as the spinning wheels of a toy car, but doesn't understand the overall purpose or function of the object
• Is unusually sensitive to light, sound or touch, yet may be indifferent to pain or temperature
• Doesn't engage in imitative or make-believe play
• Fixates on an object or activity with abnormal intensity or focus
• Has specific food preferences, such as eating only a few foods, or refusing foods with a certain texture

As they mature, some children with autism spectrum disorder become more engaged with others and show fewer disturbances in behavior. Some, usually those with the least severe problems, eventually may lead normal or near-normal lives. Others, however, continue to have difficulty with language or social skills, and the teen years can bring worse behavioral and emotional problems.

When to see a doctor

Babies develop at their own pace, and many don't follow exact timelines found in some parenting books. But children with autism spectrum disorder usually show some signs of delayed development before age 2 years.

If you're concerned about your child's development or you suspect that your child may have autism spectrum disorder, discuss your concerns with your doctor. The symptoms associated with the disorder can also be linked with other developmental disorders.

Signs of autism spectrum disorder often appear early in development when there are obvious delays in language skills and social interactions. Your doctor may recommend developmental tests to identify if your child has delays in cognitive, language and social skills, if your child:

• Doesn't respond with a smile or happy expression by 6 months
• Doesn't mimic sounds or facial expressions by 9 months
• Doesn't babble or coo by 12 months
• Doesn't gesture — such as point or wave — by 14 months
• Doesn't say single words by 16 months
• Doesn't play "make-believe" or pretend by 18 months
• Doesn't say two-word phrases by 24 months
• Loses language skills or social skills at any age

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Autism spectrum disorder has no single known cause. Given the complexity of the disorder, and the fact that symptoms and severity vary, there are probably many causes. Both genetics and environment may play a role.

• Genetics. Several different genes appear to be involved in autism spectrum disorder. For some children, autism spectrum disorder can be associated with a genetic disorder, such as Rett syndrome or fragile X syndrome. For other children, genetic changes (mutations) may increase the risk of autism spectrum disorder. Still other genes may affect brain development or the way that brain cells communicate, or they may determine the severity of symptoms. Some genetic mutations seem to be inherited, while others occur spontaneously.
• Environmental factors. Researchers are currently exploring whether factors such as viral infections, medications or complications during pregnancy, or air pollutants play a role in triggering autism spectrum disorder.

No link between vaccines and autism spectrum disorder

One of the greatest controversies in autism spectrum disorder centers on whether a link exists between the disorder and childhood vaccines. Despite extensive research, no reliable study has shown a link between autism spectrum disorder and any vaccines. In fact, the original study that ignited the debate years ago has been retracted due to poor design and questionable research methods.

Avoiding childhood vaccinations can place your child and others in danger of catching and spreading serious diseases, including whooping cough (pertussis), measles or mumps.

Risk factors

The number of children diagnosed with autism spectrum disorder is rising. It's not clear whether this is due to better detection and reporting or a real increase in the number of cases, or both.

Autism spectrum disorder affects children of all races and nationalities, but certain factors increase a child's risk. These may include:

• Your child's sex. Boys are about four times more likely to develop autism spectrum disorder than girls are.
• Family history. Families who have one child with autism spectrum disorder have an increased risk of having another child with the disorder. It's also not uncommon for parents or relatives of a child with autism spectrum disorder to have minor problems with social or communication skills themselves or to engage in certain behaviors typical of the disorder.
• Other disorders. Children with certain medical conditions have a higher than normal risk of autism spectrum disorder or autism-like symptoms. Examples include fragile X syndrome, an inherited disorder that causes intellectual problems; tuberous sclerosis, a condition in which benign tumors develop in the brain; and Rett syndrome, a genetic condition occurring almost exclusively in girls, which causes slowing of head growth, intellectual disability and loss of purposeful hand use.
• Extremely preterm babies. Babies born before 26 weeks of gestation may have a greater risk of autism spectrum disorder.
• Parents' ages. There may be a connection between children born to older parents and autism spectrum disorder, but more research is necessary to establish this link.

Complications

Problems with social interactions, communication and behavior can lead to:

• Problems in school and with successful learning
• Employment problems
• Inability to live independently
• Social isolation
• Stress within the family
• Victimization and being bullied

More Information

• Autism spectrum disorder and digestive symptoms

There's no way to prevent autism spectrum disorder, but there are treatment options. Early diagnosis and intervention is most helpful and can improve behavior, skills and language development. However, intervention is helpful at any age. Though children usually don't outgrow autism spectrum disorder symptoms, they may learn to function well.

• Autism spectrum disorder (ASD). Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/autism/facts.html. Accessed April 4, 2017.
• Uno Y, et al. Early exposure to the combined measles-mumps-rubella vaccine and thimerosal-containing vaccines and risk of autism spectrum disorder. Vaccine. 2015;33:2511.
• Taylor LE, et al. Vaccines are not associated with autism: An evidence-based meta-analysis of case-control and cohort studies. Vaccine. 2014;32:3623.
• Weissman L, et al. Autism spectrum disorder in children and adolescents: Overview of management. https://www.uptodate.com/home. Accessed April 4, 2017.
• Autism spectrum disorder. In: Diagnostic and Statistical Manual of Mental Disorders DSM-5. 5th ed. Arlington, Va.: American Psychiatric Association; 2013. http://dsm.psychiatryonline.org. Accessed April 4, 2017.
• Weissman L, et al. Autism spectrum disorder in children and adolescents: Complementary and alternative therapies. https://www.uptodate.com/home. Accessed April 4, 2017.
• Augustyn M. Autism spectrum disorder: Terminology, epidemiology, and pathogenesis. https://www.uptodate.com/home. Accessed April 4, 2017.
• Bridgemohan C. Autism spectrum disorder: Surveillance and screening in primary care. https://www.uptodate.com/home. Accessed April 4, 2017.
• Levy SE, et al. Complementary and alternative medicine treatments for children with autism spectrum disorder. Child and Adolescent Psychiatric Clinics of North America. 2015;24:117.
• Brondino N, et al. Complementary and alternative therapies for autism spectrum disorder. Evidence-Based Complementary and Alternative Medicine. http://dx.doi.org/10.1155/2015/258589. Accessed April 4, 2017.
• Volkmar F, et al. Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry. 2014;53:237.
• Autism spectrum disorder (ASD). Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/autism/Pages/default.aspx. Accessed April 4, 2017.
• American Academy of Pediatrics policy statement: Sensory integration therapies for children with developmental and behavioral disorders. Pediatrics. 2012;129:1186.
• James S, et al. Chelation for autism spectrum disorder (ASD). Cochrane Database of Systematic Reviews. http://onlinelibrary.wiley.com/doi/10.1002/14651858.CD010766.pub2/abstract;jsessionid=9467860F2028507DFC5B69615F622F78.f04t02. Accessed April 4, 2017.
• Van Schalkwyk GI, et al. Autism spectrum disorders: Challenges and opportunities for transition to adulthood. Child and Adolescent Psychiatric Clinics of North America. 2017;26:329.
• Autism. Natural Medicines. https://naturalmedicines.therapeuticresearch.com. Accessed April 4, 2017.
• Autism: Beware of potentially dangerous therapies and products. U.S. Food and Drug Administration. https://www.fda.gov/ForConsumers/ConsumerUpdates/ucm394757.htm?source=govdelivery&utm_medium=email&utm_source=govdelivery. Accessed May 19, 2017.
• Drutz JE. Autism spectrum disorder and chronic disease: No evidence for vaccines or thimerosal as a contributing factor. https://www.uptodate.com/home. Accessed May 19, 2017.
• Weissman L, et al. Autism spectrum disorder in children and adolescents: Behavioral and educational interventions. https://www.uptodate.com/home. Accessed May 19, 2017.
• Huebner AR (expert opinion). Mayo Clinic, Rochester, Minn. June 7, 2017.

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ORIGINAL RESEARCH article

Autism spectrum disorder research: knowledge mapping of progress and focus between 2011 and 2022.

• 1 National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), NHC Key Laboratory of Mental Health (Peking University), Peking University Sixth Hospital, Peking University Institute of Mental Health, Beijing, China
• 2 Translational Medicine Center of Chinese Institute for Brain Research, Beijing, China
• 3 Guangdong Key Laboratory of Mental Health and Cognitive Science, Institute for Brain Research and Rehabilitation (IBRR), South China Normal University, Guangzhou, China

Background: In recent years, a large number of studies have focused on autism spectrum disorder (ASD). The present study used bibliometric analysis to describe the state of ASD research over the past decade and identify its trends and research fronts.

Methods: Studies on ASD published from 2011 to 2022 were obtained from the Web of Science Core Collection (WoSCC). Bibliometrix, CiteSpace, and VOSviewer were used for bibliometric analysis.

Results: A total of 57,108 studies were included in the systematic search, and articles were published in more than 6,000 journals. The number of publications increased by 181.7% (2,623 in 2011 and 7,390 in 2021). The articles in the field of genetics are widely cited in immunology, clinical research, and psychological research. Keywords co-occurrence analysis revealed that “causative mechanisms,” “clinical features,” and “intervention features” were the three main clusters of ASD research. Over the past decade, genetic variants associated with ASD have gained increasing attention, and immune dysbiosis and gut microbiota are the new development frontiers after 2015.

Conclusion: This study uses a bibliometric approach to visualize and quantitatively describe autism research over the last decade. Neuroscience, genetics, brain imaging studies, and gut microbiome studies improve our understanding of autism. In addition, the microbe-gut-brain axis may be an exciting research direction for ASD in the future. Therefore, through visual analysis of autism literature, this paper shows the development process, research hotspots, and cutting-edge trends in this field to provide theoretical reference for the development of autism in the future.

Introduction

Autism spectrum disorder (ASD) refers to a group of early-onset, lifelong, heterogeneous neurodevelopmental conditions with complex mechanisms of emergence ( 1 ). The prevalence of ASD has increased from 1 in 69 by 2012 to 1 in 44 by 2018, as reported by the Centers for Disease Control and Prevention for 2012–2018 ( 2 , 3 ). Recent research estimates the male-to-female ratio is closer to 2:1 or 3:1, indicating a higher diagnostic prevalence of autism in males compared to females ( 4 – 6 ). Some studies have shown a high heritability of 80–93% in ASD and reported hundreds of risk gene loci ( 7 ).

Specific autistic characteristics usually appear before the age of 3 years, and some children on the spectrum may have limited nonverbal and verbal communication by the age of 18–24 months ( 8 , 9 ). The diagnosis of ASD is based on the core features of social communication impairment and unusual and repetitive sensory-motor behavior ( 10 ). Some autistic individuals can be definitively diagnosed with autism as early as 2–3 years of age and the mean age of diagnosis for autistic children is still 4–5 years ( 1 , 11 ). It is important to stress that more adults are getting assessed for possible autism ( 5 ). As autism is increasingly diagnosed, multidisciplinary involvement can help have a positive impact on the well-being and quality of life for both children and adults on the spectrum ( 12 ). Several mental diseases also affect autistic individuals, increasing the diagnosis complexity ( 13 ).

Over the past decade, researchers have struggled to explain the neurological etiology, and great progress has been made in the genetics, epigenetics, neuropathology, and neuroimaging of ASD ( 9 ). However, there is a lack of systematic review of field research and discussion of future research hotspots. Bibliometrics ( 14 ) belongs to interdisciplinary research, which has been widely used in science by analyzing highly cited papers, field keyword clustering, and the internal cooperation links of countries, thus providing a comprehensive interpretation of the development process of autism research field ( 15 ).

In some of the previous bibliometrics studies on ASD, a single software was used to focus on a specific field or research aspect of the autism ( 16 – 18 ), and the trend in the past decade has not yet been displayed. The present study comprehensively combines Bibliometrix package, CiteSpace, and VOSviewer to (1) dynamically assess quantitative indicators of ASD research publications and use different index indicators to measure the quality of research; (2) further identify the most contributing countries, institutions, journals, and authors; (3) analyze the citation network architecture; (4) determine the top 100 most cited papers; (5) conduct keyword analysis. Subsequently, bibliometrics was used to understand the current hotspots and trends in the field of ASD research for further in-depth investigation.

Materials and methods

Data collection and search strategies.

We comprehensively searched the Web of Science Core Collection (WoSCC) database from 2011 to 2022. WoSCC is a daily updated database covering an abstract index of multidisciplinary literature that exports complete citation data, maintained by Thomson Reuters (New York, NY, USA) ( 19 ). The articles’ data were independently searched by two researchers on May 29, 2022, to avoid bias caused by database updates. The scientometric retrieval process is illustrated in Figure 1 . A total of 68,769 original articles in English language were retrieved, excluding 11,661 irrelevant articles, such as meeting abstracts, editorial materials, corrections, and letters. A total of 57,108 documents were exported, and the retrieved documents would be exported in the form of all records and references.

Figure 1 . Flowchart of the screening process.

Grey prediction model

Grey models (GM) are used to construct differential prediction models with limited and incomplete data ( 20 ). The GM (1,1) model, with high accuracy and convenient calculations, is extensively utilized in the energy and medical industries ( 21 ). We used the standard GM (1,1) model to forecast the annual publication volume over the next 5 years. The operation of GM (1,1) model was done by using Python software.

Bibliometric analysis and visualization

The records of the retrieved publications were exported to Bibliometrix, CiteSpace, and VOSviewer for further bibliometric analysis.

Bibliometrix package (running on R4.0.3) was utilized to capture and extract the bibliographic information on selected publications, including topic, author, keywords, and country distribution ( 22 ). The productivity of authors/journals in the field was measured by the number of publications (Np) and assessing metrics, such as the number of citations, publication h-index value, and m-index value. The h-index is used to quantify the scientific output and measure the citation impact, and two people with similar h-index may have a similar impact in the scientific field, even if the total number of papers or total citations are different ( 23 ). The m-index can be used to compare the influence of scholars with different academic career years. The number of citations of a document is a measure of its scientific impact to a certain extent ( 24 ). Bibliometrix package was also used to screen the top 100 articles and explore research trends and hotspots.

VOSviewer is a free computer program to visualize bibliometric maps ( 25 ). The keyword co-occurrence network was constructed using VOSviewer. CiteSpace is based on the Java environment and uses methods, such as co-occurrence analysis and cluster analysis, for the visualization of scientific literature research data in specific disciplines. The visual knowledge maps were constructed using the procedural steps of CiteSpace ( 26 ), including time slicing, threshold, pruning, merging, and mapping; then, the contribution of countries and institutions of ASD over the past decade was assessed based on centrality scores. The co-citation network and dual-map of references were constructed by CiteSpace. A dual-map ( 27 ) overlay is a bipartite overlay analysis method by CiteSspace, which uses the distribution map cited journals in the WoS database as the base map, and the map generated by the cited literature data as the overlay map.

Annual publications

A total of 57,108 articles were included in this study, consisting of 46,574 articles, 2,643 conference papers, and 7,891 reviews. From 2011 to 2022, the number of publications maintained a steady growth rate ( Figure 2A ), and the grey prediction model predicted the trend of increasing publication volume in the next 5 years ( Figure 2B ). The main information for all publications is shown in Supplementary Table S1 .

Figure 2 . Global trends in publications of ASD research. (A) Single-year publication output over the past decade. (B) Model forecast curves for publication growth trends.

Distribution of countries and institutions

Autism-related research has been conducted by researchers from a variety of countries and institutions, and articles in this field have been cited 1,231,588 times ( Tables 1 , 2 ). CiteSpace visualizes collaborative networks between institutions and countries ( Figures 3A , B ). As shown in the international collaborations network of autism research ( Figure 3C ), the USA and UK are the leading countries working closely with other countries.

Table 1 . Publications in top 10 most productive countries.

Table 2 . Publications in top 10 most productive Institutions.

Figure 3 . The distribution of countries and institutions. Map of countries (A) and institutions (B) contributed to publications related to ASD research. (C) Network diagram showing international collaborations involved in ASD research. The nodes represent the countries and institutions; the color depth and size of the circle are positively correlated to the number of posts. The thickness of the curved connecting lines represents the strength of collaboration in the countries and institutions.

Analysis of journals

The h-index combines productivity and impact; typically, a high h-index means a high recognition. As presented in Table 3 , the Journal of Autism and Developmental Disorders, PLOS One, and Molecular Psychiatry were among the top three of the 20 journals with the highest h-index. The Journal of Autism and Developmental Disorders has the highest number of articles (3478) and cited number of publications (90308). Among the top 20, four journals with impact factors >10 include Molecular Psychiatry (IF: 13.437), Biological Psychiatry (IF: 12.810), Proceedings of the National Academy of Sciences of the United States of America (IF: 12.779), Journal of the American Academy of Child and Adolescent Psychiatry (IF: 13.113), which have been cited more than 10,000 times. In addition, 75% of journals belong to Q1 ( Table 3 ). The cited journals provided the knowledge base of the citing journals. The yellow paths illustrate that studies published in “molecular, biology, immunology” journals tended to cite journals primarily in the domains of “molecular, biology, genetics,” and “psychology, education, social.” The paths colored with grass-green paths illustrate that studies published in “medicine, medical, clinical” journals tended to cite journals primarily in the domains of “molecular, biology, and genetics.” The pale blue paths showcase that research published in “psychology, education, health” journals preferred to quote journals mostly in the domains of “molecular, biology, genetics,” “health, nursing, medicine,” and “psychology, education, social ( Figure 4 ).”

Table 3 . Top 20 journals ranked by h_index.

Figure 4 . A dual-map overlay of journals that published work related to ASD. A presentation of citation paths at a disciplinary level on a dual-map overlay. The width of the paths is proportional to the z-score-scale citation frequency. The labels on the map represent the research subjects covered by the journals, and the wavy curve connects the citing articles on the left side of the map and the cited articles on the right side of the map.

Analysis of authors

The top 10 most effective authors who have contributed to autism research are listed in Table 4 . The g-index and m-index are derivatives of the h-index, and if scientists publish at least 10 articles, of which 7 papers have been cited cumulatively 51 (>49), the g-index is 7; the m-index is related to the academic age of the scientists. The large g-index, h-index, and m-index indicate a great influence on the scholar’s academic influence and high academic achievement. Professor Catherine Lord from the USA is ranked first and has made outstanding contributions to autism research over the past 10 years. In terms of the number of publications, Simon Baron-Cohen was the most productive author ( n  = 278), followed by Tony Charman ( n  = 212) and Christopher Gillberg ( n  = 206). In terms of citations in this field, Daniel H. Geschwind was ranked first (18,127 citations), followed by Catherine Lord (14,830 citations) and Joseph D. Buxbaum (14,528 citations).

Table 4 . Top 10 most effective authors contributing to autism research.

Analysis of reference

The co-citation analysis network of 1,056,125 references ( Figure 5A ) showed that two articles appear simultaneously in the bibliography of the third cited document. The top 20 co-cited references (over the past decade) summarized in ASD studies are listed in Supplementary Table S2 . Most of this highly cited literature focuses on the genetic field, discovering genetic risk loci and associated mutations, constructing mutation networks highly associated with autism, and identifying genes associated with autism synaptic destruction. Some studies indicated that de novo mutations in ASD might partially explain the etiology. Multiple studies have revealed genetic variants associated with ASD, such as rare copy number variants (CNVs), de novo likely gene-disrupting (LGD) mutations, missense or nonsense de novo variants, and de novo duplications. In the cluster network graph, different colors represent varied clusters, and each node represents a cited paper, displaying the distribution of topics in the field ( Figure 5B ). The network is divided into 25 co-citation clusters ( Figure 5B ), primarily related to the diagnosis, etiology, and intervention of autism. The etiological studies include five clusters, de novo mutation, inflammation, gut microbiota, mitochondrial dysfunction, and mouse model. Intervention literature focuses on early intensive behavioral intervention, intranasal oxytocin, video modeling, and multisensory integration. The diagnostic aspects of ASD include neuroimaging functional connectivity and Diagnostic and Statistical Manual of Mental Disorders (DSM-5). In addition, some of the references focus on gender/sex differences and sleep problems. Coronavirus disease 2019 (COVID-19) is a new cluster for autism research.

Figure 5 . Mapping on co-cited references. (A) A network map showing the co-cited references. (B) Co-cited clusters with cluster labels.

Co-occurrence analysis of keywords

The co-occurrence analysis of keywords in ASD research articles was performed using VOSviewer software; the keywords that occurred ≥200 times were analyzed after being grouped into four clusters of different colors ( Figure 6A ); the temporal distribution of keywords is summarized in Figure 6B . This map identifies various categories of research: Etiological mechanisms (red), Clinical features (green), Intervention features (blue), and the Asperger cluster (yellow). In the “Etiological mechanisms” cluster, the research includes brain structure and function, genetics, and neuropathology. In the “Clinical features” cluster, the common keywords were “symptoms,” “diagnosis,” “prevalence,” and its comorbidities, including “anxiety” and “sleep.” In the “Intervention features” cluster, the research population of ASD is concentrated in “young children,” “intervention,” and “communication.” These interventions improve the learning and social skills through the involvement of parents and schools.

Figure 6 . Keywords co-occurrence network. (A) Cluster analysis of keywords. There are four clusters of keywords: red indicates Cluster 1 ( n  = 145), green indicates Cluster 2 ( n  = 104), blue indicates Cluster 3 ( n  = 78), yellow indicates Cluster 4 ( n  = 80). (B) Evolution of keyword frequency. A minimum number of occurrences of a keyword = 200. Overall, 407 keywords met the threshold criteria. The yellow keywords appear later than purple keywords.

The 100 top-cited publications

The screening of the 100 most cited publications on ASD between 2011 and 2022 by Bibliometrix software package, each with >500 citations. The detailed evaluation index information for countries, institutions, journals, and authors ( Supplementary Tables S3 – S6 ).

Taken together, the results indicated that the United States is the country that publishes the most highly cited articles ( n  = 64), including single-country publications ( n  = 37) and multiple-country publications ( n  = 27); most articles are from academic institutions within the USA ( Figures 7A , B ).

Figure 7 . Analysis of the 100 top-cited publications Characteristics of 100 top-cited publications. The most relevant countries (A) , affiliations (B) , journals (C) and authors (D) . Trend topics (E) and thematic evolution (F) of 100 top-cited publication. Coupling Map (G) : the coupled analysis of the article, references and keywords is carried out, the centrality of the x -axis is displayed, the y -axis is the impact, and the confidence (conf%) is calculated.

The 100 top-cited ASD publications were published in 48 journals; 17 articles were published in Nature ( n  = 17), making it the highest h-index journal in this list ( Supplementary Table S5 ). In addition, 10 articles were published in Cell, and 7 articles were published in Nature Genetics ( Figure 7C ). When considering the individual authors’ academic contributions, Bernie Devlin provided 13 publications, followed by Kathryn Roeder and Stephan J Sanders, with 11 publications each ( Figure 7D ). The details of the top 10 top-cited papers are summarized in Table 5 . An article titled “A general framework for estimating the relative pathogenicity of human genetic variants” published by Martin Kircher in Nature Genetics, received the highest number of citations ( n  = 3,353).

Table 5 . Detail of top 10 citation paper.

The 100 top-cited ASD articles encompassed a range of keywords ( Figure 7E ) and displayed the main cluster of themes through specific periods (2011–2022) by analyzing those in the selected literature. The Sankey diagrams of thematic evolution explain the topics that evolved throughout the years ( Figure 7F ). In summary, the core topics of the ASD field in 2011–2014 consisted of the risk of childhood ASD and further developed into the field of human genetic variants, such as CNV and de novo mutations. In the subperiod 2015–2020, the further expansion of studies in this field leads to new clusters, such as “immune system,” “brain development,” and “fecal microbiota.” Genome research in the upper right quadrant, including mutations and risk, is a major and evolving theme. The coupled map showing the brain-gut axis field, including intestinal microbiota and chain fatty acids, located in the lower right corner is crucial for autism research but is not yet well-developed ( Figure 7G ). The research on autism, including animal models, schizophrenia, is a well-developed field, but that on high-functioning autism and diagnosis is a marginal field.

This study used various bibliometric tools and software to analyze the published articles on ASD based on the WoSCC database from 2011 to 2022. By 2022, the annual number of publications and citations of ASD-related research showed an overall upward trend, reflecting the sustained interest and the diversity of areas.

General information

In terms of regional distribution, researchers from different countries and regions have participated in autism research, and international cooperation has been relatively close over the past decade. The scientific research is supported by several countries and institutions, as well as by large-scale international cooperation ( 28 , 29 ). The USA has the highest collaboration performance, especially with UK, Canada, Australia and China. In addition to the limitations of financial aid, ethical, cultural, and racial issues are complex constraints that should be overcome for more diversity in autism research ( 30 , 31 ). We speculated that further collaboration between institutions and countries could promote autism research.

Among the top 20 academic journals, most of the papers were in the Journal of Autism and Developmental Disorders. The frequent publishing of ASD-related papers indicates the interest of readers and journal editors in Autism. Also, substantial studies have been carried out on ASDs, autism, and molecular autism. These journals are ascribed to the field of ASD, focusing on autism research and communication ASD science. However, the analysis of the 10 most cited publications revealed that they were published in such as Nature, Cell, Lancet; these ASD studies were all from high-impact journals.

From the perspective of authors, some of them have made outstanding contributions to global ASD research. Professor Catherine Lord, the top rank for h-index, m-index analysis conducted by the author, and who developed the two gold standards for autism diagnosis ( 32 , 33 ), are the most influencing factors in the field. ASD is a disease with complex genetic roots. Dr. Catherine Lord has conducted multiple studies using genome-wide association study (GWAS) and gene set analysis to identify variant signatures in autism ( 34 ). A recent meta-analysis showed that 74–93% of ASD risk is heritable, with an analysis of CNVs that highlights the key role of rare and de novo mutations in the etiology of ASD ( 35 ). Variation-affected gene clusters on networks associated with synaptic transmission, neuronal development, and chromatin regulation ( 36 , 37 ). The identification of the cross-disorder genetic risk factors found by assessing SNP heritability in five psychiatric disorders ( 38 ). Five of the top 10 cited papers in Table 5 focus on genetic variation, suggesting that over the past decade, research has shifted from a general concept of genetic risk to the different types of genetic variations associated with autism.

Simon Baron-Cohen of the Autism Research Center at the University of Cambridge was the most published author between 2011 and 2021. He contributed to the mind-blindness hypothesis of autism, developed the autism spectrum quotient (AQ) screening tool for autism, and focused on gender differences in autism ( 39 – 41 ). There are gender/sex differences in the volume and tissue density of brain regions, including the amygdala, hippocampus, and insula, and the heart-blind hypothesis links emotional recognition in individuals with autism to deficits in the amygdala ( 41 – 43 ). Then, Simon et al. backed up the “extreme male brain” theory of autism in a study of 36,000 autistic individuals aged 16–89 ( 44 ). Recently, an increasing number of studies from different perspectives have focused on how sex/gender differences are related to autism ( 4 , 5 , 45 ). In the future, studies of neural dimorphism in brain development in autism need to be conducted across the lifespan to reduce age-induced biases ( 41 ).

Hotspots and Frontiers

Keyword analysis was a major indicator for research trends and hotspot analysis. This study shows that keywords for autism research include etiological mechanism, clinical characteristics, and intervention characteristics. Genetic, environmental, epigenetic, brain structure, neuropathological, and immunological factors have contributed to studying its etiological mechanism ( 46 , 47 ). The studies on the abnormal cortical development in ASD have reported early brain overgrowth ( 48 ), reduced resting cerebral blood flow in the medial PFC and anterior cingulate ( 49 ), focal disruption of neuronal migration ( 50 ), and transcriptomic alterations in the cerebral cortex of autism ( 51 ). Genomics studies have identified several variants and genes that increase susceptibility to autism, affecting biological pathways related to chromatin remodeling, regulation of neuronal function, and synaptic development ( 51 – 54 ). In addition, many autism-related genes are enriched in cortical glutamatergic neurons, and mutations in the genes encoding these proteins result in neuronal excitation-inhibitory balance ( 51 , 55 ). A recent study using single-cell sequencing of the developing human cerebral cortex found strong cell-type-specific enrichment of noncoding mutations in ASD ( 56 ). Interestingly, genes interact with the environment; some studies have shown that environmental exposure during pregnancy is a risk factor for brain development ( 57 ), and there are changes in DNA methylation in the brains of ASD patients, reflecting an underlying epigenetic dysregulation.

Presently, the diagnosis of ASD is mainly based on symptoms and behaviors, but the disease has a high clinical heterogeneity, and the individual differences between patients are obvious ( 58 ). In this study, the keywords of the intervention cluster show the importance of early individualized intervention. Patient data are multidimensional, and individualized diagnoses could be made at multiple levels, such as age, gender, clinical characteristics, and genetic characteristics ( 59 ). Early individual genetic diagnosis aids clinical evaluation, ranging from chromosomal microarray (CMA) to fragile X genetic testing ( 60 ). However, the results of genetic research cannot guide the treatment. Notably, the treatment of autism is dominated by educational practices and behavioral interventions ( 61 ). Medication may address other co-occurring conditions, such as sleep disturbances, epilepsy, and gastrointestinal dysfunction ( 9 ). Professor Catherine Lord pointed out that the future of autism requires coordinated, large-scale research to develop affordable, individualized, staged assessments and interventions for people with ASD ( 62 ). Professor Baron-Cohen noted that increasing the sample size and collecting data from the same individual multiple times could reduce heterogeneity ( 58 ). In addition, screening for objective and valid biomarkers in the future would help to stratify diagnosis and reduce heterogeneity.

According to the keyword trend analysis of 100 highly cited documents, the genetic risk of autism was determined as the hot focus of research, and immune dysregulation and gut microbiome are the new development frontiers after 2015. Patients with ASD have altered immune function, microglia activation was observed in postmortem brain samples, and increased production of inflammatory cytokines and chemokines was observed in cerebrospinal fluid. The microglia are involved in synaptic pruning, and cytokines also affect neuronal migration and axonal projections ( 63 – 65 ). In addition, abnormal peripheral immune responses during pregnancy might affect the developing brain, increasing likelihood of autism ( 66 ). Several studies have pointed to abnormalities in immune-related genes in the brain and peripheral blood of autistic patients ( 51 , 67 , 68 ). Immune dysfunction is involved in the etiology of ASD and mediates the accompanying symptoms of autism. The patients have multiple immune-related diseases, asthma, allergic rhinitis, Crohn’s disease, and gastrointestinal dysfunction ( 69 – 71 ). Children with frequent gastrointestinal symptoms, such as abdominal pain, gas, constipation, or diarrhea, had pronounced social withdrawal and stereotyped behavior ( 70 – 72 ). Several studies suggested that these autism-related gastrointestinal problems might be related to intestinal microbiota composition ( 72 – 74 ). Accumulating evidence suggested that the microbiota-gut-brain axis influences human neurodevelopment, a complex system involving immune, metabolic, and vagal pathways in which bacterial metabolites directly affect the brain by disrupting the gut and blood–brain barrier ( 75 – 78 ). Fecal samples from children with autism contained high Clostridium species and low Bifidobacterium species ( 79 , 80 ). Probiotics can modulate gut microbiota structure and increase the relative abundance of Bifidobacteria , and clinical studies have shown that supplementation with probiotic strains improves attention problems in children with autism ( 81 , 82 ). Recent clinical trials have shown that microbiota transfer therapy improves gastrointestinal symptoms and autism-like behaviors in children with ASD ( 83 , 84 ).

This scientometric study comprehensively analyzes about a decade of global autism research. Research in the field of autism is increasing, with the United States making outstanding contributions, while neuroscience, genetics, brain imaging studies, or studies of the gut microbiome deepen our understanding of the disorder. The study of the brain-gut axis elucidates the mechanism of immunology in autism, and immunological research may be in the renaissance. The current data serve as a valuable resource for studying ASD. However, the future of autism needs further development. In the future, relevant research should be included for a complete representation of the entire autism population, and further collaboration between individuals, institutions, and countries is expected to accelerate the development of autism research.

Data availability statement

The original contributions presented in the study are included in the article/ Supplementary material , further inquiries can be directed to the corresponding authors.

Author contributions

MJ, DZ, JL, and LW conceived and designed the study. MJ, TL, XL, KY, and LZ contributed to data collection and data analysis. MJ wrote the original manuscript. DZ, JL, and LW revised the article and contributed to the final version of the manuscript. All authors contributed to the article and approved the submitted version.

This work was supported by grants from the Key-Area Research and Development Program of Guangdong Province (2019B030335001) and the National Natural Science Foundation of China (grant numbers 82171537, 81971283, 82071541, and 81730037).

Conflict of interest

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Publisher’s note

All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.

Supplementary material

The Supplementary material for this article can be found online at: https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1096769/full#supplementary-material

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Keywords: autism spectrum disorder, bibliometric study, CiteSpace, VOSviewer, research frontiers

Citation: Jiang M, Lu T, Yang K, Li X, Zhao L, Zhang D, Li J and Wang L (2023) Autism spectrum disorder research: knowledge mapping of progress and focus between 2011 and 2022. Front. Psychiatry . 14:1096769. doi: 10.3389/fpsyt.2023.1096769

Received: 16 November 2022; Accepted: 10 April 2023; Published: 25 April 2023.

Reviewed by:

Copyright © 2023 Jiang, Lu, Yang, Li, Zhao, Zhang, Li and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

*Correspondence: Jun Li, [email protected] ; Lifang Wang, [email protected]

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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Autism spectrum disorders linked to neurotransmitter switching in the brain

by Mario Aguilera, University of California - San Diego

Autism spectrum disorders (ASD) involve mild to severe impairment of social, behavioral and communication abilities. These disorders can significantly impact performance at school, in employment and in other areas of life. However, researchers lack knowledge about how these disorders emerge at early stages of development.

University of California San Diego neurobiologists have found evidence of altered development of the nervous system in mouse models of autism spectrum disorders . They linked environmentally induced forms of ASD to changes in neurotransmitters, the chemical messengers that allow neurons to communicate with each other. They also discovered that manipulating these neurotransmitters at early stages of development can prevent the appearance of autistic-like behaviors.

The study is published in the Proceedings of the National Academy of Sciences .

"In seeking the root causes of autism spectrum disorder behaviors in the brain, we found an early change in neurotransmitters that is a good candidate to be the primary cause," said School of Biological Sciences Professor Nicholas Spitzer of the Department of Neurobiology and Kavli Institute for Brain and Mind. "Getting a handle on the early events that trigger ASD may allow development of new forms of intervention to prevent the appearance of these behaviors."

ASD diagnoses have been ramping up in recent years, but how these disorders manifest at the critical cellular and molecular levels has not been well understood.

The study's lead author, Assistant Project Scientist Swetha Godavarthi, and colleagues investigated neurotransmitter expression in the medial prefrontal cortex , a brain area often affected in individuals diagnosed with ASD. They tested the hypothesis that changes in the type of neurotransmitter expressed by neurons in the prefrontal cortex could be responsible for a chemical imbalance that causes ASD-like behaviors.

Previous studies had shown an increase in the incidence of ASD in offspring when pregnant women had a heightened immune response or were exposed to certain drugs during the first trimester (environmental forms of ASD). The researchers reproduced ASD in mice by administering these environmental agents to mice in utero.

These agents caused the brief loss of the "GABA" neurotransmitter, which is inhibitory, and the gain of the "glutamate" neurotransmitter, which is excitatory, in neonatal mice. Although this GABA-to-glutamate transmitter switch reversed spontaneously after a few weeks, adult mice exhibited altered behaviors of repetitive grooming and diminished social interaction. Overriding this brief early transmitter switch in neonatal mice prevented the development of these autistic-like behaviors in adults.

"Driving expression of GABA in the neurons that have replaced GABA with glutamate prevents the appearance of stereotyped repetitive behavior and reduced social interaction," said Spitzer. "These findings demonstrate that changing electrical activity and inappropriately exciting neurons at early stages of development can alter the assembly of the nervous system."

Alterations in neurotransmitter expression at an early stage of development carry implications for other behavioral issues at later stages in life, since the rest of the nervous system is then built upon a platform of defective wiring, similar to a house constructed on an unstable foundation.

"Neurotransmitter switching can change the assembly of the nervous system and have a profound impact downstream," said Spitzer.

The researchers say the new results are consistent with other evidence that altering signaling in the nervous system during the early stages of development can later carry negative consequences as the brain matures.

Authors of the paper include Hui-quan Li, Marta Pratelli and Nicholas Spitzer.

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Autism Research Via Smartphone

One of the most effective means of investigating and understanding autism is eye tracking. Participants are shown photos or videos, and computer software records where their gaze rests. Autistic individuals are more likely to focus on nonsocial aspects of an image, such as objects or background patterns, while neurotypical subjects have an increased propensity to focus on people's faces.

Ralph Adolphs, the Bren Professor of Psychology, Neuroscience, and Biology and an affiliated faculty member of the Tianqiao and Chrissy Chen Institute for Neuroscience , has been researching autism for decades as part of a larger project aimed at understanding the neuroscience of human social behavior. In his Emotion and Social Cognition Lab , researchers get a finer grasp on the mechanics of the brain when processing emotion and interacting with others by studying both neurotypical individuals and those who have brain damage or brain malformations or who have neuropsychiatric conditions such as obsessive compulsive disorder (OCD) or autism spectrum disorder (ASD).

Autism is a particularly rich field for research into emotion and social cognition since it is characterized by, among other things, differences in social behavior. Adolphs has been exploring its features by bringing adults with autism into the lab to track their eye movements when they are exposed to a variety of visual stimuli.

This research has yielded many interesting findings but has been inherently limited by the expense of laboratory eye tracking technology. "Eye tracking is a sensitive measure that gives us insight into some cognitive processes that are thought to be different in autism," Adolphs explains. "But previous studies have required a desktop eye tracker, which can cost $30,000 or $40,000, and the assistance of a graduate student or postdoc to calibrate the equipment and set up the research subjects for tests. It's very time intensive and money intensive research."

Adolphs and others have asked whether smartphones, which are able to display images and video and use camera technology to record, display, or share elements of the user's face or environment, might be able to capture the same information that established eye-tracking technology already does but at considerably less expense.

In a recent proof-of-concept study, Adolphs's lab recruited participants with and without autism spectrum disorder to undergo eye-tracking experiments, first with established desktop eye-tracking technology (the Tobii Pro Spectrum eye tracker), then with smartphone eye tracking administered in the lab with the assistance of researchers who adjust the smartphones and the participants' angle of view, and finally with the same participants participating in eye-tracking experiments at home via smartphone. Impressively, similar results were found across all three modalities.

This holds enormous promise for research into autism. "If we can only get a dozen or 20 people into the lab at Caltech at a time, our sample size is obviously limited," Adolphs says. "Not only that, it is biased: Participants are people who can travel on their own, who are in the Los Angeles area, and who are high functioning. With smartphones we can scale research to much larger sample sizes and include participants from underserved communities. This will help us get a much better understanding of the features of autism."

There is a saying about autism: "If you've seen one person with autism, you've seen one person with autism." Because the characteristics of autism can vary so widely, small sample sizes limit the conclusions that can be drawn from research. Adolphs hopes that with the implementation of smartphone eye-tracking technology and the larger sample sizes it permits, "we will have the statistical power to look at a lot of questions about autism. There might be two or three or four or a dozen different types of autism that can be identified, which could greatly improve diagnosis and treatment for autistic individuals."

Smartphone eye tracking can also benefit autism research by enabling longitudinal studies—those that collect data about specific individuals over a longer period of time. "Sometimes, when a person comes into the lab for a study, they're nervous, or they've taken a medication, or they haven't slept well the night before, and all these things can give results that might be quite different on another day," Adolphs says. "It's too impractical for people to come to the lab repeatedly, but if they can perform these tests at home alone, week after week, we can establish a baseline and then document changes due to development, treatment, or aging."

"There are still a lot of practical hurdles with smartphone research," Adolphs cautions. "Getting people to reliably do these tests is not trivial. They have to remember to do it, follow instructions, hold the phone in a certain way, and upload the data to us."

A potentially bigger problem concerns privacy, especially as this technology is commercialized, as it inevitably will be (and to some extent, already is). "If you have an app that advertises itself as diagnosing or tracking autism, it will take a video of your face, send it to some machine on the internet, and then give you results," Adolphs explains. "This is identifiable data. Whoever gets the video can tell who you are." In Adolphs's study, videos of participants were cropped to show only the eyes. "The data became immediately anonymized," Adolphs says.

These difficulties notwithstanding, Adolphs's experiments with smartphone eye tracking "have the potential to scale sample size by several orders of magnitude and include participants from all over the world."

" Smartphone-based gaze estimation for in-home autism research " was published in the journal Autism Research. The authors on the paper include postdoc Na Yeon Kim and graduate student Qianying Wu, who together led the study, as well as co-authors Jasmin Turner, Lynn K. Paul, and Adolphs of Caltech; Daniel P. Kennedy of Indiana University; and Junfeng He, Kai Kohlhoff, Na Dai, and Vidhya Navalpakkam, who all work for Google Research in Mountain View, California, and who were responsible for analyzing the data. The study was funded by the Della Martin Foundation, the Simons Foundation Autism Research Initiative, and Google.

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Autism spectrum disorder in the children of chronic pain patients.

Research type.

Research Study

Autism spectrum disorder in the children of patients suffering from chronic pain.

Contact name

Allegra Hirst

Contact email

[email protected]

Sponsor organisation

The Walton Centre

Duration of Study in the UK

0 years, 8 months, 1 days

Research summary

Chronic pain is a common health condition, and although the mechanisms underpinning chronic pain are often unclear, there is growing evidence that the primary chronic pain conditions fibromyalgia syndrome (FMS) and complex regional pain syndrome (CRPS) have an autoimmune component. Autoantibodies have gained attention as a potential pathogenic role in persistent pain states; in persistent complex regional pain syndrome and fibromyalgia syndrome passive transfer of Immunoglobin G (IgG) antibodies from patient-donors cause symptoms to rodents that closely resemble those of the clinical disorders (Cuhudar et al., 2019; Goebel et al., 2021).

Independent of this, there is also growing interest in the role of the prenatal immune environment in the development of ASD in children. Previous retrospective research has demonstrated an increased likelihood of ASD in the children of mothers with any autoimmune disease (Chen et al. 2016; Kiel et al. 2010). Moreover, animal models have implicated IgG antibodies in the behavioural and cognitive features that characterise ASD. No specific causal factors have been identified, but it is theorized that the presence of pathologically significant maternal autoantibodies might affect foetal development during pregnancy.

The current study team conducted a service evaluation to record the frequency of reported neurodivergent children amongst a sample of chronic pain patients from the Walton Centre. This displayed an increased prevalence of ASD in the children of parents with a specific primary chronic pain condition, including FMS and CRPS. The present study will invite this same sample of chronic pain patients to prospectively investigate what factors underlie this increased prevalence. The sample will consist of all new patients from Prof A. Goebel’s pain outpatient clinics at the Walton Centre. This novel study could provide important insights into the risk factors associated with the development of ASD in the children of a sample population of chronic pain patients.

Wales REC 2

REC reference

Date of rec opinion, rec opinion.

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Beyond Friendship: The Spectrum of Social Participation of Autistic Adults

Dara v. chan.

1 Division of Clinical Rehabilitation and Mental Health Counseling, Department of Allied Health, The University of North Carolina at Chapel Hill and The University of North Carolina TEACCH Autism Program, Chapel Hill, USA

3 Campus Box 7250, Chapel Hill, NC 27599 USA

Julie D. Doran

Osly d. galobardi.

2 Essential Counseling and Therapeutic Services, PLLC, Chapel Hill, NC USA

Difficulties with social interactions and communication that characterize autism persist in adulthood. While social participation in adulthood is often marked by social isolation and limited close friendships, this qualitative study describes the range of social participation activities and community contacts, from acquaintances to close relationships, that contributed to connection from the perspective of 40 autistic adults. Qualitative data from interviews around social and community involvement were analyzed and revealed five main contexts where social participation occurred: vocational contexts, neighborhoods, common interest groups, support services and inclusive environments, and online networks and apps. Implications for practice to support a range of social participation include engaging in newer social networking avenues, as well as traditional paths through employment and support services.

Introduction

The diagnosis of individuals with autism spectrum disorder (ASD) has risen dramatically, from 1 in 150 8-year-olds in 2002 to 1 in 54 in 2016 (Center for Disease Control, 2020 ). While prevalence rates are most closely monitored in children, ASD is a lifelong disorder characterized by social and communication impairments as well as repeated and restricted patterns of behavior (American Psychiatric Association [APA], 2013 ). While other symptoms of autism often plateau or improve in adulthood, characteristic social interaction difficulties persist and are potential contributors to lower rates of normative adult outcomes reported in the literature that involve social participation, friendships, or close relationships (Tobin et al., 2014 ).

Social Relationships in Childhood and Adolescence

Social participation includes the size and quality of social networks (Wong & Solomon, 2002 ), while friendship is defined as emotional relationships people form with another characterized by mutual affection, companionship, and reciprocal support and interaction (Freeman & Kasari, 1998 ; Parker & Gottman, 1989, as cited in Bauminger et al., 2008 ). Yet the importance of the size or number of social contacts related to well-being may vary through different life stages or the lifespan. Parker and Asher’s ( 1993 ) research with neurotypical children, meaning those who are typically developing, highlighted the importance of the need for only one close friend in childhood for better well-being. In this study, less loneliness was associated with having at least one close friend, even among children who were not accepted in their classroom. Loneliness denotes a negative emotional state from the subjective appraisal that the quality or amount of social interaction desired does not match one’s actual social experience (Elmose, 2020 ; Peplau & Perlman, 1982 ). This is different from solitude, which may be preferred and important (Elmose, 2020 ; Mazurek, 2014 ; Peplau & Perlman, 1982 ). In the literature, loneliness also differs from social isolation, which in contrast to the subjective appraisal of one’s social relationship status, objectively examines one’s amount of social contact (Mazurek, 2014 ).

There is some support for the similar importance of having a close friend as potential protection against feelings of loneliness in autistic children. Autistic children identified quality friendships in a small circle of supportive friends as an important measure of their well-being, and the preference to have a few close friends who can be trusted (Lam et al., 2020 ). Similarly, Rotheram-Fuller et al. ( 2010 ) identified autistic children who had at least one reciprocal friendship, defined in the research as two children both nominating one another as friends (Kasari et al., 2011 ), also had greater peer acceptance. While these close friendships may have important implications, they are less frequent. A study of parent reports of friendships indicated 34% of autistic children had at least one good friend, compared to 71% of children with other disabilities and 93% of neurotypical children without disabilities (Rowley et al., 2012 ). Having one close friend may offer some protection against loneliness, although reciprocal friendships may be less common among autistic children compared to neurotypical children.

Social and communication impairments are often tied to difficulties with developing these reciprocal friendships in childhood. In the regular classroom, autistic children may experience the social structure of inclusion, but often still appear on the fringe of social activities, with higher rates of loneliness and poorer friendship quality than their neurotypical classmates (Kasari et al., 2011 ; Locke et al., 2010 ). For example, in a study examining playground observations as well as self, teacher, and classmate reports, Kasari et al. ( 2011 ) found autistic children were more likely to be socially isolated, meaning not a part of any social group in the classroom, or identified as only having peripheral social status compared to their neurotypical peers.

Other findings using measures of friendship quality, which evaluates the degree of companionship, help, security, and closeness between an identified friend, are often lower for autistic children and adolescents (Kasari et al., 2011 ; Locke et al., 2010 ). Friendship quality, however, is not commensurate with friendship satisfaction, as satisfaction with friendship may be fulfilled through a few friends or from friends outside the school setting (Petrina et al., 2017 ). Calder et al. ( 2012 ) noted autistic children were generally satisfied with their level of friendship. Petrina et al. ( 2017 ) also found rates of friendship satisfaction were similar for autistic and non-autistic elementary school children, with the level of perceived friendship reciprocated by named neurotypical peer friends in the study. These named friend pairs were often connected through common interests in childhood which carried into adolescence. Available survey data from Orsmond et al. ( 2004 ) on peer relationships in autistic adolescents found 20.9% had at least one friendship with shared activities, but only 8.1% had one close reciprocal friendship, and almost half had no peer relationships at all.

Social Relationships in Adulthood

When examining the quality of social networks in adulthood, including peer relationships and friendships, systematic reviews of the available research report adults across the spectrum have poorer social relationships than both neurotypically developing peers and those with intellectual disabilities, learning disabilities, and speech language disorders (Gotham et al., 2015 ; Kirby et al., 2016 ; Levy & Perry, 2011 ; Orsmond et al., 2013 ; Roux et al., 2013 ). Unlike childhood, where autistic children are more likely to initiate engagement with neurotypical peers in the classroom rather than with other children with disabilities (Bauminger et al., 2003 ), in adulthood there is some support for a preference for relationships with others on the spectrum (Milton & Sims, 2016 ; Morrison et al., 2020 ). For example, Morrison et al. ( 2020 ) conducted a study in which they paired autistic and neurotypical adults for a 5-minute social interaction. Researchers found that autistic adults preferred to interact with other autistic adults and were more likely to reveal more about themselves to them compared to neurotypical participants (Morrison et al., 2020 ). Sedgewick et al. ( 2019 ) compared ratings of close relationships between 532 autistic and 417 non-autistic adults and found no significant differences when rating their relationship with a long-term partner or spouse, indicating that autistic adults may feel the same level of closeness to a marriage or long-term partner as neurotypical adults (Sedgewick et al., 2019 ). Similarly, in survey research with 108 autistic adults, 60% reported having a close or best friend, which was significantly related to less loneliness (Mazurek, 2014 ). Furthermore, in a qualitative study of 15 adults and nine caretakers of autistic adults, some participants described having a limited number of close friendships as important for aging well (Hwang et al., 2017 ), which may indicate satisfaction with a few close relationships.

In the neurotypical population, however, particularly with aging in adulthood, the benefits of social participation shift away from the importance of having one close friend. A number of researchers have identified having a broad network of social contacts in adulthood as a key contributor to factors supporting healthy aging, including mental health (Achat et al., 1998 ; Michael et al., 1999 ; Uchino et al., 2001 ). In older adulthood, larger social networks are related to better global cognition (Kelly et al., 2017 ), while perceived social connectedness is significantly related to self-reported health status (Ashida, 2008 ). Much less is known about the impact of the size or extent of social networks in autistic adults. In the Mazurek ( 2014 ) survey study, number of friends was an important predictor of better self-esteem and less depression and anxiety, suggesting quality and quantity matters. However, social participation outcomes have previously been measured by assessing the number of friendships, frequency of contact or activities with friends, or even a dichotomous measure of the presence or absence of social activity within a defined period, such as the past month or past year. These measures may not accurately capture social participation, or the perceived size and quality of social contacts (Myers et al., 2015 ; Orsmond et al., 2013 ; Steinhausen et al., 2016 ; Tint et al., 2016 ). For example, in a qualitative study of 38 autistic adults examining factors influencing quality of life, McConachie et al. ( 2020 ) found that some participants described difficulty with engaging in social interactions, while others described a lack of desire for friendships altogether, representing a range of social participation preferences.

With differences between autistic and neurotypical individuals in mind, the neurodiversity perspective challenges the use of normative outcomes as the benchmark for success in adulthood. A neurodiverse framework acknowledges the difficulties the autism community faces, while also presenting the commonalities that characterize autistic individuals as strengths and differences rather than inherent deficits (Baron-Cohen, 2017 ). Social, environmental, or attitudinal barriers, however, can magnify the extent to which these differences interfere with the individual being able to engage in typical participation outcomes. Similarly, as opposed to a medical model focused on deficits, viewing autism as an identity and culture replaces typically held beliefs about social impairments and difficulties with the concept that individuals on the spectrum possess social skills, but they may be different than those of neurotypical individuals (Herrick & Datti, 2020 ).

With this perspective in mind, friendships and social participation may look different for individuals on the spectrum. For example, autistic adults may plan their social interactions to include less face-to-face contact to meet their social needs without being overwhelmed (Elmose, 2020 ). Attending concerts, movies, or sporting events may be preferred activities because these activities are more scripted and require less verbal communication. In other cases, individuals may appear to others to be on the periphery of social interactions and not involved, but still themselves consider the activity as social and participating with others (Bagatell, 2010 ). Additionally, online social networking platforms may serve as an important facilitator of friendship development for autistic individuals (Brownlow et al., 2015 ). These online friendships may appear to be of lower quality when assessed using a neurotypical model of friendship, but autistic individuals may engage in meaningful and important relationships through the online setting (Brownlow et al., 2015 ). Furthermore, Mazurek ( 2013 ) found autistic adults who used social networking platforms were more likely to report having a close friend compared to those who did not use online social networking.

Range of Social Participation

For all individuals, there are different levels of social participation and engagement. Social connections can range from casual encounters, such as greeting a neighbor or stranger, to having acquaintances with those who are familiar but not known well, to close friendships and relationships where individuals feel known and accepted (Wood et al., 2015 ). While past research has primarily focused on close friendships and relationships, a better understanding of the range of social participation experiences is needed to determine potential benefits in adulthood. Research on healthy aging in adulthood stresses the importance of making social connections and forming these connections in a variety of ways that are personally meaningful (Ashida, 2008 ; Michael et al., 1999 ; Uchino et al., 2001 ). Within the autism community, there is a call to research the strengths and unique perspectives of individuals to add validity and depth to the outcomes measured (Henniger & Taylor, 2012 ; Howlin & Taylor, 2015 ). Research on the individual subjective experience of social participation of autistic adults will meet this gap (Tint et al., 2016 ).

Purpose of the Study

There is little qualitative research on the breadth of social interactions and experiences among autistic adults, and how these different types of engagements are perceived by autistic adults. Beyond the normative ways of thinking about friendships, more information is needed regarding which social connections adults with autism are engaging in that are meaningful, and how they are making connections they feel are important to them. Understanding where meaningful social participation occurs, and the contexts that frame or promote these interactions, are important for developing client-centered services and client-identified goals (McCollum et al., 2016 ). Seeking input from the autistic individual on meaningful social activities and connections both empowers the individual to provide information as an expert on the experience and can facilitate a deeper understanding of which activities and interactions are significant (McCollum et al., 2016 ; Tobin et al., 2014 ). The purpose of this study is to describe the range of social participation experiences of autistic adults to better understand, from the individual’s perspective, where and how these meaningful social contacts occur.

This study draws on data collected as part of a larger mixed methods project aimed at understanding the community participation of autistic adults. The qualitative data describing social interactions and community connections in the larger study are the focus of this analysis.

Participants

Participants were recruited through an autism research registry affiliated with a university in the southeastern United States. This registry maintains a list of individuals with autism who have indicated interest in participating in autism research, and contacts individuals on the registry based on the study’s inclusion criteria. The registry contacted potential participants for the current study who could communicate (verbally or nonverbally) in English and had an intelligence quotient (IQ) of 70 or above on record with the registry. IQ was confirmed through psychological reports previously submitted to the registry or through a previous diagnosis of Asperger’s Disorder. Recruitment invitations were sent from the registry via mail and email in groups of 30 by geographic catchment area, with approximately a 20% response rate. Interested participants could respond to the registry or the principal investigator. Research team members contacted interested individuals to confirm their ability to complete two 60-minute interviews and that a typical week of community participation could be captured during the study week.

Data were collected primarily using semi-structured interviews to assess the importance of community activities, feelings of belonging, and social connectedness from the individual’s perspective. Over the 2-year study period (2019–2021), the majority of interviews ( n = 29) were completed in person with the research team traveling to the participant’s community area prior to the beginning of the COVID-19 pandemic. Data collection after March 2020 ( n = 11) was completed via Zoom and required that participants have reliable internet access. These interviews included additional questions regarding how participants’ social and community participation changed since the onset of COVID-19.

Each interview was conducted after the participant finished a week-long data tracking process recording community activities through participants carrying a GPS tracking device and completing a daily travel diary. No intervention was included in the larger study. The interviews focused on the activities that occurred during the week, facilitators and barriers to participation, the importance of different locations visited in the community, and feelings of belonging and social support in the community. Primary study questions such as “Where do you typically see your friends?” “Are there any activities you wish you were more involved with?” “Do you feel a part of your community?” and “Who is your biggest form of social support?” often prompted discussion related to social participation. Prior to the current study, pilot testing of each project component and the interview guide was completed with 12 autistic adults which resulted in some modifications to the questions and response style of the measures used in the larger study.

The university Institutional Review Board approved all aspects of the study. Written consent was received from participants or their guardians, including consent to record the interviews. Participants with consenting guardians ( n = 5) verbally assented to participation. One participant was minimally verbal but was able to respond through confirming his family member’s responses to questions. The tracking data of community activities was used to triangulate the report of social activities if they occurred during the tracking week. After study participation, a summary of interview data including general themes of the interview and question responses was sent to each participant. Participants were asked to confirm that the information was accurate or provide changes as necessary as a form of member checking.

All authors were involved with the data collection, interviews, and analysis process. Interviews were transcribed verbatim and coded using open coding methods by the principal investigator and two master’s level research assistants (RA) on the project. All members of the research team are clinical rehabilitation and mental health counselors with experience working with autistic individuals through research, service provision, and/or as an immediate family member.

Interview data were analyzed using a multi-step approach. First, interviewers recorded detailed notes on the semi-structured interview guide during or immediately following the study visit to capture participant responses to key questions. When approximately half of the sample had completed the study, the research team met to reflect on common threads noted throughout the data collection process from these notes. Potential codes and emerging themes were identified in this process, with a particular emphasis on ten case studies. This initial conventional content analysis (Hsieh & Shannon, 2005 ) of the ten cases highlighted social networking facilitated activities, vocational related opportunities, and the importance of personal and formalized supports. A matrix was constructed that included participant demographic information, emerging codes and potential themes, and illustrative quotes (Averill, 2002 ; Hamilton & Maietta, 2017 ).

This initial analysis of ten case studies served as the foundation for further analysis. Transcripts were then independently reviewed by two team members using line by line coding for the presence of the initial representative codes or emergence of new codes and themes. The study team met regularly to review findings and compare coding results, with high agreement in coding. Sharing findings from the coding process often confirmed and expanded some of the previously identified experiences from the ten cases but also noted differences in the level of engagement or meaning of interactions and preferences across the spectrum of participation, prompting a return to the review of the data. After data collection was nearly complete, the matrix and key quotes were revisited, and the team applied a neurodiversity framework to analyze the quotes. Using a neurodiversity approach resulted in a refined focus on the range and meaning of social participation reported across participants, reframing differences in social participation as such rather than emphasizing differences as deficits. For example, during the first round of data analysis, relying exclusively on online social connections was coded as a barrier to social participation. When the team applied the neurodiversity framework, however, quotes regarding online social connections were re-coded as an important way individuals were maintaining social contacts with friends living in other geographic areas.

Forty adults participated in the study. Participant demographics are described in Table ​ Table1. 1 . Participant age had similar dispersion and averages for males ( n = 27, M = 37.89 years, SD = 11.84) and females ( n = 13, M = 37.69, SD = 8.57). At the time of study participation, 55% ( n = 22) were employed in some capacity (full-time or part-time), 45% ( n = 18) lived independently or with a spouse or partner, and 67.5% ( n = 27) drove independently. Most participants ( n = 36, 90%) lived in urban areas, as classified by the Rural-Urban Commuting Area Codes ( https://www.ers.usda.gov/data-products/rural-urban-commuting-area-codes.aspx ).

Demographics of the sample of autistic adults ( n = 40)

a The Waisman activities of daily living scale (Maenner et al. 2013 ) was administered in the context of the larger study to assess independence in completing daily living skills

Social Participation

Participants described social participation in a variety of contexts clustered around five main themes: (1) Vocational contexts, (2) Neighborhoods, (3) Common interest groups, (4) Support services and inclusive environments, and (5) Online networks and apps. A short description and example of each theme is included in Table ​ Table2. 2 . In all contexts, participants reported experiences that ranged across the spectrum of social participation that included casual encounters, engaging with known acquaintances, or engaging with close friendships or relationships. However, the results are purposefully structured by location and not level of engagement to show that social participation occurred at different levels in each context fostering a sense of belonging, which differed from person to person. Therefore, the goal was primarily to let the data tell the story, through the participants’ own words, and in response to specific interview questions. It is of note participants used some of these contexts to practice social interactions that they then applied to other settings or at other levels of engagement. Quotes were edited slightly for clarity and pseudonyms were assigned to each participant to protect confidentiality.

Overview of social participation themes

Vocational Contexts

Some participants described vocational activities of employment, volunteering, and pursuing education as an avenue for social participation. Participants described work as a place to interact positively with others. For some it offered a sense of belonging, for others, it served as an important avenue for practicing social interactions. For example, Tyler reported his place of work was most important to him because, “It’s work. It’s my practice ground. Social interaction practice.” Similarly, Warren discussed how, prior to his diagnosis of autism, he worked as a grocery store clerk to practice interacting with others, stating,

So, for a while, I got a job, in order to put myself in a spot where I’d have to interact with more people. I got a job at a grocery store for about two months in addition to my other job. That was just so I could learn to interact better with people.

Another participant described the importance of his volunteer activities as an usher as a means to interact positively with others:

Well, I mean, when I usher, I interact with a lot of people. So, it's just getting—talking to people I don’t know. And I mean I have, um, people that are season ticket holders, so they come back every year. So, it’s nice just to see.

Additionally, one participant described his attendance at graduate school as offering a context to practice social skills and foster in-person social connection:

And so, once I went to grad school, I realized I’m far away from home…and I can’t just survive just being online anymore. I don’t ... have like my family for support—things like that. So, I literally just made like a concerted effort to study social skills by myself, as well as get as many experiences as possible to, uh, get to the point where I am today.

From these efforts, Brian developed a network of friends he remains in contact with, “I have like a group of friends from back in grad school I text with, all the time.”

Jack reported volunteering was among one of his favorite activities and commented on the importance of community built there, stating, "I like attending the different meetings for the groups, like the consumer family group for Lions. I just joined a group in a human rights committee at [psychiatric hospital]." Work also provided a sense of belonging and community for some participants. For example, when Bob was asked where he felt he belonged the most, he replied, “Work. It’s where I feel most confident.” When asked where he belonged the most, Joshua, who worked at a service organization for autistic individuals, stated, "Probably [autism organization], because I have been working there for—for a long time and I'm friends with pretty much everyone there.”

Even participants who did not work or participate in organizations directly serving those on the autism spectrum were able to find neurodiverse communities that offered social connection. For example, Brian participated in a neurodiversity group at his place of work and even created an international “autistic task force” within his business. He noted, “I'm active in the neurodiversity business resource group. So that’s been helpful.” Overall, employment, volunteer, and educational settings provided a means for shared common interests, interaction practice, and familiarity with others at different levels of social participation that increased feelings of belonging and connection to a group, and in some cases fostered meaningful social connections that endured.

Neighborhoods

Neighborhoods were identified as an environment promoting meaningful social engagement and personal security. Participants described visiting with friends and acquaintances within their local neighborhood communities as well as neighbors providing a sense of safety. For example, when asked where she usually saw her friends, Julia commented, “I think it's basically around the neighborhood and everything since we live like really close to each other and everything.” Daniel commented on how his neighbor promoted feelings of safety, stating, “There's a real involved next-door neighbor who would never let anything happen,” and indicated this security enabled him to be more independent.

Participants also specifically described pets as promoting social interaction within their neighborhood communities, and these interactions contributed to them feeling a part of the community. Travis stated, “I guess I am part of a neighborhood community. I wouldn’t be if I didn’t walk the dog. But you meet a lot of people.” Similarly, when asked if he felt part of his community, Nathan described how he spoke with neighbors while walking his cat in the neighborhood, stating, “I mean, I do get out occasionally. And if people see me with Cat, they’re pretty impressed and want to talk to me.”

Common Interest Groups

Activities involving a common interest offered opportunities for social engagement for many participants. For example, attending church fellowship provided a sense of belonging and place of connection to others through shared faith. Jack described his favorite activity in the community as “...going to church and being in the choir and things. I enjoy that.” Other participants felt a sense of belonging within their church, Bible studies, or faith-based communities. When asked where she felt she belonged the most, Hannah stated, “Oh, Kingdom Hall is the one that I belong [to] the most.” She described how her church community was accepting and provided a context for meaningful social engagement. Another participant, Kathryn, also described a Bible study and church as where she belonged the most.

Some participants described gaming as a common interest that increased social engagement. For example, Brian reported he participated in game nights frequently: “Playing cards—like I will be gone to board games multiple times a week regularly.” Nathan also described how he ran a Dungeons and Dragons clan, an interactive game, to connect with friends. Peter described his interaction with others through online gaming platforms but wished to play in person as well: “I’ve been dabbling in Pathfinder and Dungeons and Dragons on—with my Discord friends, but I’d like to be with an actual physical group one of these days.” Melissa participated in an improvisation group frequently and described how this allowed for important social skills practice, reporting, “[Improv is] great for social skills. Oh my gosh, it’s so good for social skills.” Common interest groups were used to interact with friends and acquaintances at times and were even used to practice interacting with others in a safe environment.

Support Services and Inclusive Environments

Some participants utilized formalized support services to create meaningful social relationships and also described specific service organizations as offering a sense of acceptance and safety. Specifically, autistic adult support groups were described as a means of providing social connection and comfort. For example, when asked where he felt most comfortable, Charles responded, “I’d probably say [my] support group.” Similarly, Joe noted,

I was diagnosed with autism at [autism organization]. And then they had an adult support group there too, monthly, and I would go there. Originally, I would go there by myself, and there would be a few other guys with autism that I got friendly with there too.

Similarly, two participants commented on the importance of a specific camp for individuals on the autism spectrum. Brian noted he met one of his closest friends at this camp and Joe commented he and his closest friend had attended the camp as a social activity together. Participants commented on how organizations specifically serving individuals with autism and developmental disabilities provided a sense of belonging and safety. Jerry commented,

You know, you come to [organization for individuals with developmental disabilities], you come to [another autism organization], this is like safe. Say what you want to. Do what you want to. You're not likely to go run into any problems [there].

These examples of connections attributed through supportive agencies and inclusive spaces were often described as leading to the development of friendships, where individuals met as strangers or acquaintances but developed closer relationships because they were able to be themselves without fearing judgment.

Although based on a professional relationship, therapists, support staff, and service animals were specifically described as important forms of social support as well. Danielle stated her biggest form of social support was a support staff who worked with her group home. Tyler described how his service dog increased his social motivation and ability to connect with others when he went out into the community. He stated: “I think this [service dog] really helped me. ‘Cause I was, you know, I was in a tough situation before I moved here. Just not much to do, not much motivation. She [my service dog] definitely helped with that.” The addition of extra support or encouragement to engage in social settings was important for initiating these contacts.

Online Networks and Apps: “ That’s the way I communicate. ”

Several participants commented on online social networks promoting social interaction in a variety of ways. One way in which online platforms were used was to facilitate in-person gatherings. Brian and Melissa indicated they had arranged dates using dating apps. Participants also described using or trying Meetup, an online platform designed for people who share similar interests to meet for events in person. Tyler, Brian, and Troy reported they used Meetup frequently to meet others for social activities in the community such as beer tastings, game nights and rock-climbing events. In fact, when asked about his biggest form of social support, Troy commented that he had used Meetup to connect with individuals at his rock-climbing gym and how Meetup provided a simple means of meeting new people. He stated, “Meetup’s a, you know, pretty good way to go out to do something without really, you don’t need too many social skills to at least sign up and get there, and I guess you’re on your own after that.”

Others described using a variety of online platforms for communication purposes. Joe stated, “Now I’m on Facebook groups a lot—autism AS groups communicating with people and I get to know people and it’s just, yeah, I’m really happy.” Hannah also reported, “I do, I do write on Facebook and stuff... That’s the way I communicate.” When asked where he usually saw his friends, Michael responded, “Online. I used to use Facebook but not anymore. Now, I use one called MeWe.” When asked the same question, Catherine responded, "Usually they're internet friends, so I just talk with them online." Brian noted, “And I also have a friend on Twitter I'm pretty close to.” Participants utilized many different social networking platforms to communicate with individuals, ranging from casual encounters, acquaintances, and close personal friends.

Beyond individual relationships, a few participants discussed using social networking platforms to establish important online communities. When asked if she felt part of her community, Catherine stated, “Yeah, the online one, definitely. I can—we have discussion, and—it feels like I'm involved, and my opinions are taken. Like, they—they hear my opinions.” Similarly, Isaac described his view of online communities being of the same importance as typical communities: “I think that’s just as significant really. It’s still, you know, a community. It’s still a group of people that you share interests and ideas with.” Brian, who moved to a new town approximately one year prior, reported he used online platforms to connect with friends in other areas while waiting to build a community closer to home, “I’ve been able to get a good—good network of people—to some extent. They’re mostly online, now, ‘cause I haven’t made full close friends down here.” For some participants, social interactions online led to feelings of belonging and community, and at times prompted the building of connections across the social spectrum, from stranger, to someone familiar, to a supportive community.

The current study is consistent with findings in prior qualitative studies where many, but not all, autistic adults desire social connections (Causton-Theoharis et al., 2009 ; Muller et al., 2008 ). In the present study, autistic adults were engaging in a range of social participation experiences in a variety of contexts. Moreover, these autistic adults were using different venues to intentionally practice social skills, including in-person engagement and online connections. Reports of casual encounters with neighbors or acquaintances were meaningful and contributed to individuals feeling part of their communities. With a significant focus in the literature on loneliness, isolation, and friendship quality in autistic adults, the current study provides some initial support to think more broadly about the context of where social participation and interactions take place and the meaning ascribed. These findings may provide more context to past research by Mehling and Tasse ( 2014 ), who found that individuals with and without autism were participating in the community at similar rates but those with autism reported lower levels of friendship, implying these community interactions were not leading to increased friendships for autistic adults. In conjunction with the current findings, it is possible that autistic adults are socially participating and active in their communities, but it may not extend to the level of a close friendship. Autistic adults may still need some support in finding or developing these closer connections in the community, if desired.

The role and use of video games, online connections, and social media by autistic individuals has received increased attention in the literature, particularly related to social participation and friendship (Mazurek et al., 2013 , Milton & Sims, 2016 ; Schalkwyk et al., 2017 ; Sundberg, 2018 ). In childhood, Mazurek and Wenstrup ( 2013 ) found time spent playing video games was associated with less time socially interacting or using social media in autistic children compared to their neurotypical peers. In adolescence and adulthood, online connections, social media use, and playing online video games with others has previously been associated with higher friendship quality, more friends, and less loneliness (Kuo et al., 2013 ; Milton & Sims, 2016 ; Schalkwyk et al., 2017 ; Sundberg, 2018 ). While online connections are often perceived as less meaningful in the neurotypical view of social participation, Mazurek’s ( 2013 ) study examining social interactions and friendships reported almost half of the autistic adults in the study used electronic communication to contact close friends through email, text, chat or social media at least once a day or several times a day, whereas in-person visits or phone contacts were more likely to occur on a monthly basis. The current study contributes to the literature supporting the meaning and feelings of belonging attributed to these electronic connections, and new evidence of the progression of independently using technology to meet others in person through using Meetup groups and online dating apps. Participants in the current study did not exclusively use technology for social connections but merged the use of technology and online platforms to engage in in-person connections in the community.

The current study found evidence for the importance of connecting with other individuals on the spectrum in adulthood, whether through in-person support groups with other autistic adults, close personal friendships, seeking online communities specifically for autistic adults, or creating an autistic task force at work to support coworkers who are also on the spectrum. Past research notes autistic adults are more likely to disclose more about themselves to other autistic adults and prefer to interact with others on the spectrum, where they can speak freely about their interest (Milton & Sims, 2016 ; Morrison, 2020 ). As noted by Milton and Sims ( 2016 ), relationships with others who identify as autistic are very important, especially in fostering feelings of acceptance and safety. Consistent with our findings, online forums provide a space for these relationships. However, in-person connections at work or through autism support agencies were also identified as meaningful places of social connection with other autistic adults. It is of note that the importance of connecting with other autistic adults may represent a shift from childhood, where autistic children show a preference for interacting with neurotypical peers in a classroom setting (Bauminger et al., 2003 ). In adulthood, the current study provides preliminary support for a broader range of social participation with both autistic and neurotypical individuals.

There is also specific support for Elmose’s ( 2020 ) notion of “accessibility” as an important factor facilitating social relationships in autistic adults, where partners, spouses, school, or work helped build connections and ease interactions. For some of the current participants, shared interests in games nights, faith communities, work, volunteer, or educational settings provided important contexts encouraging connections of convenience and interaction with others. Different types of roles, such as partner, employee/volunteer, neighbor, or group member, in different contexts led to accessibility for opportunities for social participation.

Participants in the current study reported feeling safe at organizations for individuals with autism and developmental disabilities and connecting with others through online autism groups. Participants also reported using work or volunteer positions as a safe space to intentionally practice social skills with others. This connects to Elmose’s ( 2020 ) findings that autistic adults actively decode the social rules of situations or interactions with people based on past experiences, and plan ways to make social interaction easier. However, unlike some of the participants in Elmose’s ( 2020 ) study who reported seeking out activities such as going to the movies, sporting events, or concerts where there was less social interaction or the social interaction would be more predictable, the current study noted examples of participants actively seeking out social interactions, through work, volunteer positions, or joining an improvisation class, that were less predictable to practice and improve their social skills.

Finally, it is of note in the autism literature on isolation and loneliness that more attention has been given to the importance of perceived loneliness and the subjective experience of social interaction in determining the impact on well-being (Mazurek, 2014 ; McConachie et al., 2020 ). Not everyone in the current study preferred to engage in social interactions, as clearly stated by one participant who commented, “I don’t like people.” Additionally, there were several participants who responded, “I have no friends,” when asked where they typically see their friends. However, a number of participants perceived themselves as being engaged in meaningful social interactions in a variety of contexts and at various levels of social participation that contributed to feelings of belonging that may or may not require having a close friend in adulthood. This finding provides preliminary support for the formation of a sense of community and feelings of belonging. Even those who desired more social connection reported other community connections, in-person or online, with individuals at the casual encounter or acquaintance level that helped them feel connected to their sense of community.

Limitations

While the purpose of the larger study was to describe the community participation experiences of autistic adults, including social participation, data collection was not created around exploring different levels of social engagement, or differences in the quality of friendships found in different contexts, such as in person or online connections. We attempted not to impose our own lens in interpreting the findings and ascribe meanings to the range of social connections described, but rather sought to let the data speak for itself. When asked where participants saw their friends, we assumed their responses included descriptions of meaningful friendships, and at times, this question elicited direct statements of not having friends. Elsewhere, participants openly described the lack of close friendships, or acknowledged that contacts remained at an acquaintance level. However, often participants described social contacts at all levels in relation to identifying places where they felt they belonged, places that were most important to them, and as contributing to feeling part of the community.

Similarly, the current study did not begin from a neurodiversity framework to specifically focus on strengths of individuals in the context of social participation. However, when participants described different means of social engagement that seemed to be working in connecting with others for significant friendships, dating, or marriage partners, we often prompted them to share more in hopes of understanding the different contexts and/or supports that were helpful in facilitating these meaningful connections. Additional study limitations include a small sample from a limited geographic region. Furthermore, inclusion criteria of an IQ of 70 or above means the entire autism spectrum is not represented in our findings. Additionally, most data were collected before the beginning of the COVID-19 pandemic. However, some ( n = 11) were collected via Zoom interviews during the pandemic, which expanded our geographic reach but also required that participants have access to reliable internet connection, thus excluding some participants. Participants in the current study indicated if they were ever diagnosed with a mental health condition on a demographic survey. However, we did not collect information regarding current psychiatric diagnoses, which may have impacted social participation unless it was shared directly during the interview. For example, Kayla noted, “I have really bad social anxiety at times...especially for places that are unfamiliar.” Finally, we did not collect any information regarding prior participation in social skill interventions, which may have promoted social engagement.

Implications for Practice

In addition to social skills training groups, our findings suggest the need for structured opportunities for social interactions and individualized approaches to promote social participation in areas of interest. This may be part of providing comprehensive supports for autistic adults through an interdisciplinary approach including professionals such as rehabilitation counselors, recreational, and occupational therapists. While social skills training can be an effective intervention, providing structured opportunities, such as practicing social interaction in community contexts with professional support, could be another step in promoting social participation in autistic adults. Offering information about online platforms that can be used to facilitate in-person social interaction may be an avenue for fostering new social connections. Additionally, encouraging participation in natural practice spaces for social interaction at work and in common interest groups may offer potential means for social interaction. Because adults with autism may desire spaces in which they can discuss their interests (Milton & Sims, 2016 ), these natural practice grounds, especially when related to common interest, may allow adults with autism to engage with others in a way that they prefer. For example, if an individual has an interest in gaming, participating in a gaming group would allow the individual to speak freely about their interest while engaging with others.

While encouraging the use of online platforms to facilitate in-person interaction and participation in common interest groups may be potential avenues for meaningful social connection, formalized support services also offered safe spaces for our participants to engage with others with developmental disabilities, and potentially develop closer relationships. Taken a step further, support groups could offer opportunities to organize social outings or discuss ways to meet new people. Additionally, individual therapy sessions could be utilized to practice social skills and discuss contexts in which these skills could be practiced. For example, clinicians could collaborate with clients to identify where they might practice social interactions in various contexts in the community including volunteer sites, the grocery store, or in the neighborhood, with or without a pet. Therapists could challenge clients to think about how they might interact with individuals in these locations. Additionally, therapists could assist clients to plan when the social outing would occur, how to self-manage their capacity for social interaction in the community, and create an exit strategy if the activity becomes overwhelming or overstimulating.

To increase community and social engagement, our research team created “personalized mapping profiles” for each participant, depicted in Figure ​ Figure1. 1 . These profiles included locations visited during the study week, other important locations they noted that were not visited during the study week, approximately 10 new locations the participant could visit based on identified interests during the study interviews, and information about Meetup with approximately three suggested Meetup groups. A description of each new location, a color-coded map with its location relative to the participant’s home, and the website link was included in each profile. Creating similar mapping profiles could provide a visual representation of new locations of interest in community and provide new ideas for potential contexts for social interaction.

An example slide from the personalized mapping profiles developed for participants

Participants in the current study highlighted how they had both practiced social skills and found meaningful social connections in the workplace. Employment supports independence in the community and could potentially have the added benefit of developing social connection for autistic adults. Providing employment support to this population may have the benefit of fostering natural supports and providing a safe context for social practice. Referrals to vocational rehabilitation agencies or to support agencies with expertise in supported employment for autistic adults may increase employment attainment and social participation.

Future Directions

Although social networking promoted social engagement in many cases, participants also described having the majority of one’s friends out of town or online as a barrier to social interaction. Peter explained, “I haven’t spoken with most of my non-online friends in ages.... most of the friends I do have online are either somewhere across the ocean, somewhere on the other side of the country.” Similarly, Michael indicated he would like to attend parties and go to bars with friends but was not presently participating in those activities. When asked about barriers to these activities, he explained, “A lot of my friends are out of town,” and later described most of his friends were online. Because research has shown social connection is important to healthy aging (Michael et al., 1999 ; Uchino et al., 2001 ), it is worth noting that some participants described their social interactions as primarily online. Although beyond the scope of our research, understanding whether online friendships and interactions support healthy aging and well-being in autistic adults may be beneficial, and more research is needed in this area. Future research would benefit from a more comprehensive investigation into the quality, frequency, and meaning connected to online versus in-person social interactions and friendships, and important mechanisms supporting the development of these social connections. Because the connection between loneliness and an unmet need to belong is associated with suicidal ideation in autistic adults (Camm-Crosbie et al., 2019 ; Dow et al., 2021 ; Pelton et al., 2020 ), a specific focus on the impact of online and in-person social connections on mental health is needed.

While many participants reported no barriers to participation during the study week, some participants noted additional barriers of transportation, expense, and weather, as well as lack of motivation, energy, or people to do things with as interfering with social participation. At times, as Renee noted, it was a combination of factors,

Like if I had, if I had more friends like I would probably do more; [if] people were asking me, ‘Hey you wanna go do blah blah blah?’ I probably would. But I don’t really have any like, real friends right now. And I get exhausted from having to work.

Mental health, sensory, and organizational challenges were also reported as barriers to planned or desired activities during the study week. More research is needed to further examine how different types of barriers can be addressed to support a full range of social participation in autistic adults.

The current study suggests considerations of well-being and feelings of belonging in autistic adults should not be limited to measures of the number and quality of friendships alone. Rather, as researchers and clinicians, we may need to change the questions we are asking regarding the range of types of connections with others and community contexts that collectively contribute to social participation. As autistic adults navigate social experiences, the current study found evidence of individuals using a variety of in-person and online community contexts to intentionally practice and improve their social participation skills. In addition, current findings support autistic adults used specific apps to facilitate in-person meet ups, at times merging the preference for online communication with the desire for in-person connection. These results suggest exploring new ways to tailor interventions to support the range of desired social participation preferences of autistic adults. These findings may be a first step in research on the role of the range of social connections and healthy aging or well-being in autistic adults.

Acknowledgments

The authors would like to thank Laura Klinger, Ph.D. and The University of North Carolina at Chapel Hill TEACCH Autism Program’s research team for their feedback on an early draft of this manuscript. This paper was presented at the 20th annual National Council on Rehabilitation Education Conference (NCRE), July 17, 2020. This study was made possible through funding from The National Institute of Disability, Independent Living, and Rehabilitation Research (#90SFGE0008-01-00). Assistance for this project was also provided by the UNC Intellectual and Developmental Disabilities Research Center (NICHD; P50 HD103573; PI: Joseph Piven). The data management aspects of the project described was supported by the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, through Grant Award Number UL1TR002489. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.

Author Contributions

Dara Chan contributed to the study conception and design. Material preparation and data collection were performed by all authors. Dara Chan and Julie Doran completed the data analysis and contributed to the manuscript writing. Osly Galobardi aided in data collection, analysis and interpreting the results. The first draft of the manuscript was written by Dara Chan and Julie Doran. All authors read and approved the final manuscript.

Dara Chan has received primary support for this project from a Switzer Fellowship from The National Institute of Disability, Independent Living, and Rehabilitation Research (#90SFGE0008-01-00). Assistance for this project was also provided by the UNC Intellectual and Developmental Disabilities Research Center (NICHD; P50 HD103573; PI: Joseph Piven). The project described was also supported by the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, through Grant Award Number UL1TR002489. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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How a common viral infection can increase a child’s autism risk.

Children born with a common viral infection are nearly 2.5 times more likely to be diagnosed with autism spectrum disorder, a new study finds .

Cytomegalovirus is part of the herpes family of viruses. It spreads through body fluids like blood, saliva and urine, and it’s usually harmless in healthy people. Around a third of infected mothers pass CMV to their fetus in utero.

About one in every 200 US babies is born with CMV each year. Nearly 20% of those infants will experience birth defects or other long-term health problems, such as hearing or vision loss, developmental delays or epilepsy .

For this study, researchers from the University of Michigan and Centers for Disease Control and Prevention analyzed data on nearly 3 million children enrolled in Medicaid or the Children’s Health Insurance Program.

Just over 1,000 kids had congenital CMV, while nearly 75,000 had ASD. Autism is a developmental disorder that affects how people learn, behave, communicate and interact with others.

Girls born with CMV had 4.65 times the autism risk, while boys had about twice the risk compared to their peers without the condition.

The study findings were published in the June issue of the American Academy of Pediatrics journal Pediatrics .

“This data should prompt us as clinicians to proactively monitor for early signs of autism in children with congenital cytomegalovirus,” said lead study author Dr. Megan Pesch, a developmental behavioral pediatrician at University of Michigan Health C.S. Mott Children’s Hospital.

“This may be especially critical for children who are deaf or hard of hearing since diagnosing autism in this population can be particularly challenging,” added Pesch, whose daughter has congenital CMV and autism.

The link between congenital CMV and autism — which is estimated to affect one in 36 American children — has been suggested since the 1980s .

The idea is that CMV can activate an inflammatory state that may affect fetal brain development, thus increasing the risk of ASD.  

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Pesch is calling for routine neonatal screening for CMV, which is often symptomless in pregnancy and at birth.

“Universal congenital CMV screening may not only improve detection before symptoms develop and lead to more timely intervention but also help us clarify the risk of autism among this population,” Pesch said. “Most importantly, this provides an opportunity to best support these children and their families.”

Helping Someone with an Eating Disorder

• Anorexia Nervosa: Symptoms, Causes, and Treatment
• Bulimia Nervosa: Signs, Symptoms, and Treatment
• Orthorexia Nervosa: Signs, Symptoms, and Treatment

Binge Eating Disorder

• Body Shaming: The Effects and How to Overcome it
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How do I begin recovery from an eating disorder?

Reach out for support, getting treatment for an eating disorder, self-help tip 1: learn healthier ways to cope with emotional pain, tip 2: develop a balanced relationship with food, tip 3: learn to accept and love yourself as you are, tip 4: avoid relapse, eating disorder treatment and recovery.

Ready to begin recovery from anorexia, bulimia, or another eating disorder? These tips can help you start recovery and develop true self-confidence.

The inner voices of anorexia and bulimia whisper that you’ll never be happy until you lose weight, that your worth is measured by how you look. But the truth is that happiness and self-esteem come from loving yourself for who you truly are—and that’s only possible with recovery.

The road to recovery from an eating disorder starts with admitting you have a problem. This admission can be tough, especially if you’re still clinging to the belief—even in the back of your mind—that weight loss is the key to your happiness, confidence, and success. Even when you finally understand this isn’t true, old habits are still hard to break.

The good news is that the behaviors you’ve learned can also be unlearned. Just as anyone can develop an eating disorder, so too, anyone can get better. However, overcoming an eating disorder is about more than giving up unhealthy eating behaviors. It’s also about learning new ways to cope with emotional pain and rediscovering who you are beyond your eating habits, weight, and body image.

True recovery from an eating disorder involves learning to:

• Listen to your feelings.
• Listen to your body.
• Accept yourself.
• Love yourself.

This may seem like a lot to tackle, but just remember that you’re not alone. Help is out there and recovery is within your reach. With the right support and guidance, you can break free from your eating disorder’s destructive pattern, regain your health, and find the joy in life again.

Speak to a Licensed Therapist

BetterHelp is an online therapy service that matches you to licensed, accredited therapists who can help with depression, anxiety, relationships, and more. Take the assessment and get matched with a therapist in as little as 48 hours.

Once you’ve decided to make a change, opening up about the problem is an important step on the road to recovery. It can feel scary or embarrassing to seek help for an eating disorder, so it’s important to choose someone who will be supportive and truly listen without judging you or rejecting you. This could be a close friend or family member or a youth leader, teacher, or school counselor you trust. Or you may be more comfortable confiding in a therapist or doctor.

Choose the right time and place. There are no hard and fast rules for telling someone about your eating disorder. But be mindful about choosing the right time and place—ideally somewhere private where you won’t be rushed or interrupted.

Starting the conversation. This can be the hardest part. One way to start is by simply saying, “I’ve got something important to tell you. It’s difficult for me to talk about this, so it would mean a lot if you’d be patient and hear me out.” From there, you may want to talk about when your eating disorder started, the feelings, thoughts, and behaviors involved, and how the disorder has impacted you.

Be patient. Your friend or family member will have their own emotional reaction to learning about your eating disorder. They may feel shocked, helpless, confused, sad, or even angry. They may not know how to respond or help you. Give them time to digest what you’re telling them. It’s also important to educate them about your specific eating disorder.

Be specific about how the person can best support you. For example, you may want them to help you find treatment, accompany you to see a doctor, check in with you regularly about how you’re feeling, or find some other way of supporting your recovery (without turning into the food police).

Eating disorder support groups

While family and friends can be a huge help in providing support, you may also want to join an eating disorder support group. They provide a safe environment where you can talk freely about your eating disorder and get advice and support from people who know what you’re going through.

There are many types of eating disorder support groups. Some are led by professional therapists, while others are moderated by trained volunteers or people who have recovered from an eating disorder. You can find online anorexia and bulimia support groups, chat rooms, and forums. These can be particularly helpful if you’re not ready to seek face-to-face help or you don’t have a support group in your area.

For help finding an eating disorder support group:

• Ask your doctor or therapist for a referral.
• Call local hospitals and universities.
• Call local eating disorder centers and clinics.
• Visit your school’s counseling center.
• Call a helpline listed below.

While there are a variety of different treatment options available for those struggling with eating disorders, it is important to find the treatment, or combination of treatments, that works best for you.

Effective treatment should address more than just your symptoms and destructive eating habits. It should also address the root causes of the problem—the emotional triggers that lead to disordered eating and your difficulty coping with stress, anxiety, fear, sadness, or other uncomfortable emotions.

Step 1: Assemble your treatment team

Because eating disorders have serious emotional, medical, and nutritional consequences, it’s important to have a team of professionals that can address every aspect of your problem. As you search, focus on finding the right fit—professionals who make you feel comfortable, accepted, and safe.

To find an eating disorder treatment specialist in your area:

• Ask your primary care doctor for a referral.
• Check with your local hospitals or medical centers.
• Ask your school counselor or nurse.
• Call a helpline listed in the Get more help section below.

Step 2: Address health problems

Eating disorders can be deadly—and not just if you’re drastically underweight. Your health may be in danger, even if you only occasionally fast, binge, or purge, so it’s important to get a full medical evaluation. If the evaluation reveals health problems, they should take priority. Nothing is more important than your well-being. If you’re suffering from any life-threatening problem, you may need to be hospitalized in order to keep you safe.

Step 3: Make a long-term treatment plan

Once your health problems are under control, you and your treatment team can work on a long-term recovery plan. Your treatment plan may include:

Individual or group therapy. Therapy can help you explore the issues underlying your eating disorder, improve your self-esteem, and learn healthy ways of responding to stress and emotional pain. Different therapists have different methods, so it is important to discuss with them your goals in working towards recovery.

Family therapy. Family therapy can help you and your family members explore how the eating disorder is affecting your relationships—and how various family dynamics may be contributing to the problem or impeding recovery. Together, you’ll work to improve communication, respect, and support.

Nutritional counseling. The goal of a nutritionist or dietician is to help you incorporate healthy eating behaviors into your everyday life. A nutritionist can’t change your habits overnight, but over a period of time you can learn to develop a healthier relationship with food.

Medical monitoring. Often, treatment will include regular monitoring by a medical doctor to make sure your health is not in danger. This may include regular weigh-ins, blood tests, and other health screenings.

Residential treatment. In rare cases, you may need more support than can be provided on an outpatient basis. Residential treatment programs offer around-the-clock care and monitoring to get you back on track. The goal is to get you stable enough to continue treatment at home.

Step 4: Learn self-help strategies

While seeking professional help is important, don’t underestimate your own role in recovery. The more motivated you are to understand why you developed an eating disorder, and to learn healthier coping skills, the quicker you will see change and healing. The following tips can help:

It may seem like eating disorders are all about food—after all, your rules and fears about dieting and weight have taken over your life. But food itself isn’t the real problem. Disordered eating is a coping mechanism for stress or other unpleasant emotions. You may refuse food to feel in control, binge for comfort, or purge to punish yourself, for example. But whatever need your eating disorder fulfills in your life, you can learn  healthier ways to cope with negative emotions and deal with life’s challenges.

The first step is figuring out what’s really going on inside. Are you upset about something? Depressed? Stressed out? Lonely? Is there an intense feeling you’re trying to avoid? Are you eating to calm down, comfort yourself, or to relieve boredom? Once you identify the emotion you’re experiencing, you can choose a positive alternative to starving or stuffing yourself.

Here are a few suggestions to get you started:

• Call a friend
• Listen to music
• Play with a pet
• Read a good book
• Take a walk
• Write in a journal
• Go to the movies
• Get out into nature
• Play a favorite game
• Do something helpful for someone else

Even though food itself is not the problem, developing a healthier relationship with it is essential to your recovery. Most people with eating disorders struggle with issues of control when it comes to food—often fluctuating between strict rules and chaos. The goal is to find a balance.

Let go of rigid eating rules. Strict rules about food and eating fuel eating disorders, so it’s important to replace them with healthier ones. For example, if you have a rule forbidding all desserts, change it into a less rigid guideline such as, “I won’t eat dessert every day.” You won’t gain weight by enjoying an occasional ice cream or cookie.

Don’t diet.  The more you restrict food, the more likely it is that you’ll become preoccupied, and even obsessed, with it. So instead of focusing on what you “shouldn’t” eat, focus on nutritious foods that will energize you and make your body strong. Think of food as fuel for your body. Your body knows when the tank is low, so listen to it. Eat when you’re truly hungry, then stop when you’re full.

Stick to a regular eating schedule. You may be used to skipping meals or fasting for long stretches. But when you starve yourself, food becomes all you think about. To avoid this preoccupation, try to eat every three hours. Plan ahead for meals and snacks, and don’t skip!

When you base your self-worth on physical appearance alone, you’re ignoring all the other qualities, accomplishments, and abilities that make you beautiful. Think about your friends and family members. Do they love you for the way you look or who you are? Chances are, your appearance ranks low on the list of what they love about you—and you probably feel the same about them. So why does it top your own list?

Placing too much importance on how you look leads to low self-esteem and insecurity. But you can learn to see yourself in a positive, balanced way:

Make a list of your positive qualities.  Think of all the things you like about yourself. Are you smart? Kind? Creative? Loyal? Funny? What would others say are your good qualities? Include your talents, skills, and achievements. Also, think about negative qualities you don’t   have.

Stop body checking. Pinching for fatness, continually weighing yourself, or trying on too-small clothes only magnifies a negative self-view and gives you a distorted image of what you really look like. We are all very bad at detecting visual changes in ourselves. Your goal right now is to learn to accept yourself—and that shouldn’t depend on a number on the scale or a perceived flaw you think you see in the mirror.

Avoid “fat talk.” It’s something many of us take part in without even noticing. Perhaps we make self-deprecating jokes about our appearance, criticize a celebrity for gaining a few pounds, or when we greet friends, we focus on how they look—their new outfit or newly toned physique, for example. But focusing on appearance—our own or others—only leads to feelings of body dissatisfaction. Instead of telling others, “You look great!” try focusing on something other than appearance, such as “You seem really happy!” And avoid spending time with people intent on judging others by their looks.

Challenge negative self-talk. We all have negative thoughts about our appearance from time to time. The important thing is not to base your self-worth on these thoughts. Instead, when you catch yourself being self-critical or pessimistic, stop and challenge the negative thought. Ask yourself what evidence you have to support the idea. What is the evidence against it? Just because you believe something, doesn’t mean it’s true.

Tips to improve your body image

Dress for yourself, not others. You should feel good in what you wear. Pick clothes that express your personality and make you feel comfortable and confident.

Stop comparing yourself to others. Even people without an eating disorder experience feelings of anxiety and inferiority when they compare themselves to others on social media. People exaggerate the positive aspects of their lives on Facebook, Instagram and the like, brushing over their flaws and the doubts and disappointments that we all experience. If necessary, take a break from social media —and toss the fashion magazines. Even when you realize that the images are pure Photoshopped fantasy, they can still trigger feelings of insecurity. Stay away until you’re confident they won’t undermine your self-acceptance.

Pamper your body. Instead of treating your body like the enemy, look at it as something precious. Pamper yourself with a massage, manicure, facial, a candlelight bath, or a scented lotion or perfume that makes you happy.

Stay active. While it’s important not to overdo it with exercise, staying active is good for both your mental and physical well-being. The key is to differentiate between compulsive exercise—which is rule-driven, weight-focused, and rigid—and healthy exercise that is rule-free, fun, and flexible. Focus on activities you enjoy and do them because they improve your mood, not because they might change how you look. Outdoor activities can be especially good at boosting your sense of well-being.

The work of eating disorder recovery doesn’t end once you’ve adopted healthier habits. It’s important to take steps to maintain your progress and prevent relapse.

Develop a solid support system. Surround yourself with people who support you and want to see you healthy and happy. Avoid people who drain your energy, encourage disordered eating behaviors, or make you feel bad about yourself.

Identify your “triggers.” Are you more likely to revert to your old, destructive behaviors during the holidays, exam week, or swimsuit season? Or are difficulties at work or in your relationship likely to trigger your disordered eating habits? Know what your early warning signs are, and have a plan for dealing with them, such as going to therapy more often or asking for extra support from family and friends.

Avoid pro-ana and pro-mia websites. Don’t visit websites that promote or glorify anorexia and bulimia. These sites are run by people who want excuses to continue down their destructive path. The “support” they offer is dangerous and will only get in the way of your recovery.

Keep a journal. Writing in a daily journal can help you keep tabs on your thoughts, emotions, and behaviors. If you notice that you’re slipping back into negative patterns, take action immediately.

Stick with your eating disorder treatment plan. Don’t neglect therapy or other components of your treatment, even if you’re doing better. Follow the recommendations of your treatment team.

Fill your life with positive activities. Make time for activities that bring you joy and fulfillment. Try something you’ve always wanted to do, develop a new skill, pick up a fun hobby, or volunteer in your community . The more rewarding your life, the less desire you’ll have to focus on food and weight.

If you do lapse, don’t beat yourself up. Recovery is a process—and that often involves setbacks. Don’t let feelings of guilt or shame derail your recovery, but think about how you’ll handle the same situation next time. Remember: One brief lapse doesn’t have to turn into a full-blown relapse.

Helplines and support

National Eating Disorders Association  or call 1-800-931-2237 (National Eating Disorders Association)

Beat Eating Disorders  or call 0345 643 1414 (Helpfinder)

Butterfly Foundation for Eating Disorders  or call 1800 33 4673 (National Eating Disorders Collaboration)

Service Provider Directory  or call 1-866-633-4220 (NEDIC)

More in Eating Disorders

Advice for parents, family members and friends offering support

Anorexia Nervosa

Signs, symptoms, causes, and treatment options for anorexia

Bulimia Nervosa

Signs, symptoms, treatment and self-help tips

Orthorexia Nervosa

How to recognize if your healthy eating has gone too far

Symptoms, treatment and help for compulsive overeating

Body Shaming

Improving your body image and achieving body acceptance

Cognitive Behavioral Therapy (CBT)

How it can help with anxiety, depression, PTSD, substance abuse, and more

Always focusing on your physical flaws? You may have BDD.

Professional therapy, done online

BetterHelp makes starting therapy easy. Take the assessment and get matched with a professional, licensed therapist.

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