research paper autism

• 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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CONCEPTUAL ANALYSIS article

Research, clinical, and sociological aspects of autism.

• ESPA Research, Unit 133i Business Innovation Centre, The Robert Luff Laboratory, Education & Services for People With Autism Research, Sunderland, United Kingdom

The concept of autism continues to evolve. Not only have the central diagnostic criteria that define autism evolved but understanding of the label and how autism is viewed in research, clinical and sociological terms has also changed. Several key issues have emerged in relation to research, clinical and sociological aspects of autism. Shifts in research focus to encompass the massive heterogeneity covered under the label and appreciation that autism rarely exists in a diagnostic vacuum have brought about new questions and challenges. Diagnostic changes, increasing moves towards early diagnosis and intervention, and a greater appreciation of autism in girls and women and into adulthood and old age have similarly impacted on autism in the clinic. Discussions about autism in socio-political terms have also increased, as exemplified by the rise of ideas such as neurodiversity and an increasingly vocal dialogue with those diagnosed on the autism spectrum. Such changes are to be welcomed, but at the same time bring with them new challenges. Those changes also offer an insight into what might be further to come for the label of autism.

Introduction

Although there is still debate in some quarters about who first formally defined autism ( 1 ), most people accept that Kanner ( 2 ) should be credited as offering the first recognised description of the condition in the peer-reviewed scientific literature. The core diagnostic features covering issues in areas of social and communicative interaction alongside the presence of restricted and/or repetitive patterns of behaviour ( 3 ) described in his small caseload still remain central parts of the diagnosis today. The core issue of alterations in social cognition affecting emotion recognition and social attention ( 4 ) remain integral to the diagnosis of autism. The additional requirement for such behaviours to significantly impact on various areas of day-to-day functioning completes the diagnostic criteria.

From defining a relatively small group of people, the evolution of the diagnostic criteria for autism has gone hand-in-hand with a corresponding increase in the numbers of people being diagnosed. Prevalence figures that referred to 4.5 per 10,000 ( 5 ) in the 1960s have been replaced by newer estimates suggesting that 1 in 59 children (16 per 1,000) present with an autism spectrum disorder (ASD) in 2014 ( 6 ). The widening of the definition of autism has undoubtedly contributed to the significant increase in the numbers of people being diagnosed. It would be unacceptably speculative however, to define diagnostic changes as being the sole cause of the perceived prevalence increases.

Alongside the growth in numbers of people being diagnosed with autism so there have been changes in other areas related to autism; specifically those related to the research, clinical practice and sociological aspects of autism. Many of the changes have centred on key issues around the acceptance that autism is an extremely heterogeneous condition both in terms of presentation and also in relation to the genetic and biological complexity underlying its existence. That autism rarely exists in some sort of diagnostic vacuum is another part of the changes witnessed over the decades following the description of autism.

In this paper we highlight some of the more widely discussed changes in areas of research, clinical practice and sociological terms in relation to autism. We speculate on how such changes might also further develop the concept of autism in years to come.

Autism Research

As the definition of autism has subtly changed over the years, so ideas and trends in autism research have waxed and waned. The focus on psychology and behaviour as core descriptive features of autism has, in many respects, guided research and clinical views and opinions about the condition. Social cognition, including areas as diverse as social motivation, emotion recognition, social attention and social learning ( 4 ), remains a mainstay of research in this area. The rise of psychoanalysis and related ideas such as attachment theory in the early 20th century for example, played a huge role in the now discredited ideas that maternal bonding or cold parenting were a cause of autism. The seemingly implicit need for psychology to formulate theories has also no doubt played a role in perpetuating all-manner of different grand and unifying reasons on why autism comes about and the core nature of the condition.

As time moved on and science witnessed the rise of psychiatric genetics, where subtle changes to the genetic code were correlated with specific behavioural and psychiatric labels, so autism science also moved in the same direction. Scientific progress allowing the genetic code to be more easily and more cost-effectively read opened up a whole new scientific world in relation to autism and various other labels. It was within this area of genetic science that some particularly important discoveries were made: (a) for the vast majority of people, autism is not a single gene “disorder,” and (b) genetic polymorphisms whilst important, are not the only mechanism that can affect gene expression. Mirroring the role of genetics in other behavioural and psychiatric conditions ( 7 ), the picture that is emerging suggests that yes, there are genetic underpinnings to autism, but identifying such label-specific genetic issues is complicated and indeed, wide-ranging.

What such genetic studies also served to prove is that autism is heterogeneous. They complemented the wide-ranging behavioural profiles that are included under the diagnostic heading of autism. Profiles that ranged from those who are profoundly autistic and who require almost constant attention to meet their daily needs, to those who have jobs, families and are able to navigate the world [seemingly] with little or minimal support for much of the time.

It is this heterogeneity that is perhaps at the core of where autism is now from several different perspectives. A heterogeneity that not only relates to the presentation of the core traits of autism but also to how autism rarely manifests in a diagnostic vacuum ( 8 ). Several authors have talked about autism as part of a wider clinical picture ( 9 , 10 ) and how various behavioural/psychiatric/somatic issues seem to follow the diagnosis. Again, such a shift mirrors what is happening in other areas of science, such as the establishment of the Research Domain Criteria (RDoC) project ( 11 ). RDoC recognised that defining behavioural and psychiatric conditions on the basis of presented signs and symptoms does not necessarily “reflect” the relevant underlying processes and systems that might be important. It recognised that in order to deliver important clinical information about how and why a condition manifests, or the best strategies to intervene, research cannot just singularly start with the label. Science and clinical practice need more information rather than just a blanket descriptive label such as autism.

To talk about autism as a condition that also manifests various over-represented comorbid labels also asks a fundamental question: is the word “comorbidity” entirely accurate when referring to such labels? ( 12 ). Does such comorbidity instead represent something more fundamental to at least some presentations of autism or is it something that should be seen more transiently? Numerous conditions have been detailed to co-occur alongside autism. These include various behavioural and psychiatric diagnoses such as depression, anxiety and attention-deficit hyperactivity disorder (ADHD) ( 13 ). Other more somatic based conditions such as epilepsy ( 14 ), sleep ( 15 ) and various facets of gastrointestinal (GI) functioning ( 16 ) have also been discussed in the peer-reviewed science literature. Some of these co-occurring conditions have been described in the context of specific genetic conditions manifesting autism. Issues with the BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) gene for example, have been discussed in the context of autism, intellectual (learning) disability and epilepsy appearing together ( 17 ). Such a diagnostic combination is not unusual; autism often being described as the primary diagnosis with epilepsy and learning disability seen as “add-ons.” But should this be the case? Other evidence pointing to the possibility that epilepsy might under some circumstances beget autism ( 18 ) suggests that under some circumstances, such co-occurring conditions are so much more than just co-occurring or comorbid.

Other evidence for questioning the label “comorbid” comes from various animal models of autism. Accepting that one has to be particularly careful about extrapolating from animal models of autism to the more complex presentation of autism in humans ( 19 ), various models have suggested that autism may for some, fundamentally coexist with GI or bowel issues ( 20 , 21 ). Such observations have been noted across different animal models and cover important issues such as gut motility for example, that have been talked about in the context of autism ( 22 ).

Similarly, when one talks about the behavioural and psychiatric comorbidity in the context of autism, an analogous question arises about whether comorbidity is the right term. Anxiety and depression represent important research topics in the context of autism. Both issues have long been talked about in the context of autism ( 1 , 13 , 23 ) but only in recent years have their respective “links” to autism been more closely scrutinised.

Depression covers various different types of clinical presentations. Some research has suggested that in the context of autism, depressive illnesses such as bipolar disorder can present atypically ( 24 ). Combined with other study ( 25 ) suggesting that interventions targeting depressive symptoms might also impact on core autistic features, the possibility that autism and depression or depressive symptoms might be more closely linked than hitherto appreciated arises. Likewise with anxiety in mind, similar conclusions could be drawn from the existing research literature that anxiety may be a more central feature of autism. This on the basis of connections observed between traits of the two conditions ( 26 ) alongside shared features such as an intolerance of uncertainty ( 27 ) exerting an important effect.

A greater appreciation of the heterogeneity of autism and consideration of the myriad of other conditions that seem to be over-represented alongside autism pose serious problems to autism research. The use of “autism pure” where research participants are only included into studies on the basis of not having epilepsy or not possessing a diagnosis of ADHD or related condition pose a serious problem when it comes to the generalisation of research results to the wider population. Indeed, with the vast heterogeneity that encompasses autism, one has to question how, in the context of the current blanket diagnosis of autism or ASD, one could ever provide any universal answers about autism.

Autism in the Clinic

As mentioned previously, various subtle shifts in the criteria governing the diagnosis of autism have been witnessed down the years. Such changes have led to increased challenges for clinicians diagnosing autism from several different perspectives. One of the key challenges has come about as a function of the various expansions and contractions of what constitutes autism from a diagnostic point of view. This includes the adoption of autism as a spectrum disorder in more recent diagnostic texts.

The inclusion of Asperger syndrome in the DSM-IV and ICD-10 diagnostic schedules represented an expansion of the diagnostic criteria covering autism. Asperger syndrome defined by Hans Asperger ( 28 ) as autistic features without significant language impairment and with intelligence in the typical range, was included in the text for various different reasons. Allen Frances, one of the architects of the DSM-IV schedule, mentioned the importance of having a “ specific category to cover the substantial group of patients who failed to meet the stringent criteria for autistic disorder, but nonetheless had substantial distress or impairment from their stereotyped interests, eccentric behaviors, and interpersonal problems ” ( 29 ). It is now widely accepted that the inclusion of Asperger syndrome in diagnostic texts led to an increase in the number of autism diagnoses being given.

More recent revisions to the DSM criteria covering autism—DSM-5—included the removal of Asperger syndrome as a discrete diagnosis on the autism spectrum ( 30 ). Instead, a broader categorisation of autism spectrum disorder (ASD) was adopted. The reasons for the removal of Asperger syndrome from DSM-5 are complex. The removal has however generally been positively greeted as a function of on-going debates about whether there are/were important differences between autism and Asperger syndrome to require a distinction ( 31 ) alongside more recent revelations about the actions of Asperger during World War II ( 32 ). Studies comparing DSM-IV (and its smaller revisions) with DSM-5 have also hinted that the diagnostic differences between the schedules may well-impact on the numbers of people in receipt of a diagnosis ( 33 ).

Shifts in the diagnostic text covering autism represent only one challenge to autism in the clinical sense. Other important factors continue to complicate the practice of diagnosing autism. Another important issue is a greater realisation that although the presence of observable autistic features are a necessary requirement for a diagnosis of autism, such features are also apparent in various other clinical labels. Autistic features have been noted in a range of other conditions including schizophrenia ( 34 ), personality disorders ( 35 ) and eating disorders ( 36 ) for examples. Coupled with the increasingly important observation that autism rarely exists in a diagnostic vacuum, the clinical challenges to accurately diagnosing autism multiply as a result.

The additional suggestion of “behavioural profiles” within the autism spectrum adds to the complexity. Terms such as pathological demand avoidance (PDA) coined by Newson and colleagues ( 37 ) have started to enter some diagnostic processes, despite not yet being formally recognised in diagnostic texts. Including various autistic traits alongside features such as “resisting and avoiding the ordinary demands of life” and the “active use of various strategies to resist demands via social manipulation,” debate continues about the nature of PDA and its diagnostic value ( 38 ).

Early diagnosis and intervention for autism have also witnessed some important clinical changes over the years. Driven by an acceptance of the idea that earlier diagnosis means that early intervention can be put in place to “ameliorate” some of the more life-changing effects of autism, there has been a sharp focus on the ways and means of identifying autism early and/or highlighting those most at risk of a diagnosis. It's long been known that there is a heritable aspect to autism, whether in terms of traits or diagnosis ( 39 ). In this respect, preferential screening for autism in younger siblings when an older child has been diagnosed is not an uncommon clinical sentiment ( 40 ). Other work looking at possible “red flags” for autism, whether in behaviour ( 41 ) or in more physiological terms still continue to find popularity in both research and clinical terms.

But still however, autism continues to confound. As of yet, there are only limited reliable red flags to determine or preclude the future presence of autism ( 42 ). Early behavioural interventions for autism have not yet fulfilled the promise they are said to hold ( 43 ) and autism is not seemingly present in the earliest days of development for all ( 44 , 45 ). There is still a way to go.

Autism in a modern clinical sense is also witnessing change in several other quarters. The traditional focus of autism on children, particularly boys, is being replaced by a wider acceptance that (a) autism can and does manifest in girls and women, and (b) children with autism age and mature to become adults with autism. Even the psychological mainstay of autism—issues with social cognition—is undergoing discussion and revision.

On the issue of autism presentation in females, several important themes are becoming more evident. Discussions about whether there may be subtle differences in the presentation of autism in females compared to males are being voiced, pertinent to the idea that there may be one or more specific female phenotypes of autism ( 46 ). Further characterisation has hinted that sex differences in the core domain of repetitive stereotyped behaviours ( 47 ) for example, may be something important when it comes to assessing autism in females.

Allied to the idea of sex differences in autism presentation, is an increasing emphasis on the notion of camouflaging or masking ( 48 ). This masking assumes that there may active or adaptive processes on-going that allow females to hide some of their core autistic features and which potentially contributes to the under-identification of autism. Although some authors have talked about the potentially negative aspects of masking in terms of the use of cognitive resources to “maintain the mask,” one could also view such as adaptation in a more positive light relating to the learning of such a strategy as a coping mechanism. Both the themes of possible sex differences in presentation and masking add to the clinical complexity of reliably assessing for autism.

Insofar as the growing interest in the presentation of autism in adulthood, there are various other clinical considerations. Alongside the idea that the presentation of autism in childhood might not be the same as autism in adulthood ( 49 ), the increasing number of people receiving a diagnosis in adulthood is a worthy reminder that autism is very much a lifelong condition for many, but not necessarily all ( 50 ). The available research literature also highlights how autism in older adults carries some unique issues ( 51 ) some of which will require clinical attention.

Insofar as the issue of social cognition and autism, previous sweeping generalisations about a deficit in empathy for example, embodying all autism are also being questioned. Discussions are beginning debating issues such as how empathy is measured and whether such measurements in the context of autism are as accurate as once believed ( 52 ). Whether too, the concept of social cognition and all the aspects it encompasses is too generalised in its portrayal of autism, including the notion of the “double empathy problem” ( 53 ) where reciprocity and mutual understanding during interaction are not solely down to the person with autism. Rather, they come about because experiences and understanding differ from an autistic and non-autistic point of view. Such discussions are beginning to have a real impact on the way that autism is perceived.

Autism in Sociological Terms

To talk about autism purely through a research or clinical practice lens does not do justice to the existing peer-reviewed literature in its entirety. Where once autism was the sole domain of medical or academic professionals, so now there is a growing appreciation of autism in socio-political terms too, with numerous voices from the autism spectrum being heard in the scientific literature and beyond.

There are various factors that have contributed to the increased visibility of those diagnosed with autism contributing to the narrative about autism. As mentioned, the fact that children with autism become autistic adults is starting to become more widely appreciated in various circles. The expansion of the diagnostic criteria has also played a strong role too, as the diagnostic boundaries of the autism spectrum were widened to include those with sometimes good vocal communicative abilities. The growth in social media and related communication forms likewise provided a platform for many people to voice their own opinions about what autism means to them and further influence discussions about autism. The idea that autistic people are experts on autism continues to grow ( 54 ).

For some people with autism, the existing narrative about autism based on a deficit model (deficits in socio-communicative abilities for example) is seemingly over-emphasised. The existing medical model of autism focusing such deficits as being centred on the person does not offer a completely satisfying explanation for autism and how its features can disable a person. Autism does not solely exist in a sociological as well as diagnostic vacuum. In this context, the rise and rise of the concept of neurodiversity offered an important alternative to the existing viewpoint.

Although still the topic of some discussion, neurodiversity applied to autism is based on several key tenets: (a) all minds are different, and (b) “ neurodiversity is the idea that neurological differences like autism and ADHD are the result of normal, natural variation in the human genome ” ( 55 ). The adoption of the social model of disability by neurodiversity proponents moves the emphasis on the person as the epicentre of disability to that where societal structures and functions tend to be “ physically, socially and emotionally inhospitable towards autistic people ” ( 56 ). The message is that subtle changes to the social environment could make quite a lot of difference to the disabling features of autism.

Although a popular idea in many quarters, the concept of neurodiversity is not without its critics both from a scientific and sociological point of view ( 57 ). Certain key terms often mentioned alongside neurodiversity (e.g., neurotypical) are not well-defined or are incompatible with the existing research literature ( 58 ). The idea that societal organisation is a primary cause of the disability experienced by those with the most profound types of autism is also problematic in the context of current scientific knowledge and understanding. Other issues such as the increasing use of self-diagnosis ( 59 ) and the seeming under-representation of those with the most profound forms of autism in relation to neurodiversity further complicate the movement and its aims.

The challenges that face the evolving concept of neurodiversity when applied to autism should not however detract from the important effects that it has had and continues to have. Moving away from the idea that autistic people are broken or somehow incomplete as a function of their disability is an important part of the evolution of autism. The idea that autism is something to be researched as stand-alone issue separate from the person is something else that is being slowly being eroded by such a theory.

The concept of autism continues to evolve in relation to research, clinical practice and sociological domains. Such changes offer clues as to the future directions that autism may take and the challenges that lie ahead.

The continuing focus on the huge heterogeneity and comorbidity clusters that define autism are ripe for the introduction of a new taxonomy for describing the condition. A more plural definition—the autisms—could represent one starting position ( 60 ) encompassing a greater appreciation that (a) there is variety in the presentation of the core features of autism, (b) there are seemingly several different genetic and biological pathways that bring someone to a diagnosis of autism, (c) different developmental trajectories are an important facet of the autism spectrum, and (d) the various “comorbidities” that variably present alongside autism may offer important clues about the classification of autism. Some authors have stressed that a multi-dimensional conceptualisation may be more appropriate than a categorical concept ( 61 ) but further investigations are required.

In relation to the proposed pluralisation of the label, several long held “beliefs” about autism are also ripe for further investigation. The idea that autism is innate and presents in the earliest days in all does not universally hold ( 45 ). The finding that some children experience a period of typical development and then regress into autism ( 62 ) is becoming more readily discussed in research and clinical circles, albeit not universally so. Similarly, the belief that autism is a lifelong condition for all is also not borne out by the peer-reviewed literature ( 63 ). Terms such as optimal outcome ( 64 ) might not be wholly appropriate, but do nonetheless, shed light on an important phenomenon noted in at least some cases of autism where diagnostic cut-off points are reached at one point but not another. These and other important areas provide initial support for the adoption of the idea of the plural autisms.

Allied to the notion of “the autisms” is the requirement to overhaul the terminology around the use of the “level of functioning” phrase ( 65 ). “High functioning” is typically used to describe those people on the spectrum who present with some degree of communicative language, possess typical or above-average intelligence and who can seemingly traverse the world with only minimal levels of support. “Low functioning”, conversely, is used to describe those with significant support needs who may also be non-communicative. Aside from the societal implications of labelling someone “low functioning” and the possible connotations stemming from such a label, such functioning categorisation do not seemingly offer as accurate a representation as many people might think. The high-functioning autistic child who for example, has been excluded from school on the basis of their behaviour, cannot be readily labelled “high-functioning” if the presentation of their autistic behaviours has led to such a serious outcome. This on the basis that part of the diagnostic decision to diagnose autism is taken by appreciation of whether or not presented behaviours significantly interfere with day-to-day living ( 3 ). What might replace functioning labels is still a matter for debate. The use of “levels of support requirement” utilised in current diagnostic criteria offer a template for further discussions. Such discussions may also need to recognise that the traits of autism are not static over a lifetime ( 51 ) and support levels may vary as a result.

Whatever terminology is put forward to replace functioning labels, there is a need to address some very apparent differences in the way that parts of the autism spectrum are viewed, represented and included in research. Described as the “understudied populations” by some authors ( 66 ) those with limited verbal communicative language and learning disability have long been disadvantaged in research terms and also in more general depictions of autism. In more recent times, there has been a subtle shift to acknowledge the bias that exists against those with a more profound presentation of autism ( 67 ). Further developments are however required to ensure that such groups are not excluded; not least also to guarantee the generalisability of autism research to the entire spectrum and not just one portion of it.

On the topic of generalisability to the entire autism spectrum, the moves to further involve those diagnosed with autism in research, clinical and sociological discussions presents opportunities and obstacles in equal measure. The application of the International Classification of Functioning, Disability and Health (ICF) to autism ( 68 ) to measure “health-related functioning” represented a key moment in autism participatory research. Taking on board various views and opinions about autism, the development of the ICF core autism sets has allowed those with autism and their significant others to voice their opinions about autism ( 69 ).

Such joint initiatives are to be welcomed on the basis of the multiple perspectives they offer including lived experience of autism. But with such participation, so questions are also raised about how representative such opinions are to the entire autism spectrum ( 70 ). Questions on whether those who are able to participate in such initiatives “can ever truly speak for the entire autism spectrum?” are bound to follow. Questions also about whether such first-hand reports are more important than parental or caregiver input when it comes to individuals on the autism spectrum are likewise important to ask. This bearing in mind that those with autism participating in such initiatives bring with them the same potential biases as researchers and clinicians carry with them about the nature of autism, albeit not necessarily in total agreement.

The translation of research findings into clinical practice represents another important issue that has yet to be suitably addressed. Although covering a sizeable area, several important stumbling blocks have prohibited the move from “bench to bedside” when it comes to autism research. The focus for example, on the overt behavioural presentation of autism, has in some senses continued to hinder the translational progress of more biological-based findings into autism practice. Nowhere is this seemingly more evident than when it comes to the over-representation of gastrointestinal (GI) issues in relation to autism and their management or treatment. Despite multiple findings of such issues being present ( 16 ), very little is seemingly offered despite autism-specific screening and management guidance being in place for nearly a decade at the time of writing ( 71 ). Other quite consistently reported research findings in relation to low functional levels of vitamin D ( 72 ) for example, have similarly not sparked massive shifts in clinical practices. Ignoring such potentially important clinical features contributes to a state of relative health inequality that is experienced by many on the autism spectrum.

Without trying to prioritise some areas over others, there are some important topics in relation to autism that are becoming important to autism research and clinical practice. Many of these topics are more “real life” focused; taking into account the impact of autism or autistic traits on daily living skills and functioning. These include issues such as the truly shocking early mortality statistics around autism ( 73 ) and the need for more detailed inquiry into the factors around such risks such as suicide ( 74 ) and self-injury ( 75 ) and wandering/elopement ( 76 ) alongside the considerable influence of conditions such as epilepsy.

Although already previously hinted at in this paper, the nature of the relationship between autism and various “comorbid” conditions observed to be over-represented alongside is starting to become more widely discussed in scientific circles. Whether for example, moves to intervene to mitigate issues such as depression in relation to autism might also have knock-on effects on the presentation of core autistic features is something being considered. Interest in other topics such as employment, ageing, parenting and the worrying issue of contact with law enforcement or criminal justice systems ( 77 ) are also in the ascendancy.

Conclusions

Autism as a diagnostic label continues to evolve in research, clinical practice and sociological terms. Although the core features described by Kanner and others have weathered such evolution, important shifts in knowledge, views and opinions have influenced many important issues around those core behaviours. As well as increasing understanding of autism, many of the changes, past and present, have brought about challenges too.

Author Contributions

All authors contributed equally to the writing and review of this manuscript.

This paper was fully funded by ESPA Research using part of a donation from the Robert Luff Foundation (charity number: 273810). The Foundation played no role in the content, formulation or conclusions reached in this manuscript.

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.

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Keywords: autism, research, clinical, sociological, knowledge, future

Citation: Whiteley P, Carr K and Shattock P (2021) Research, Clinical, and Sociological Aspects of Autism. Front. Psychiatry 12:481546. doi: 10.3389/fpsyt.2021.481546

Received: 28 June 2019; Accepted: 30 March 2021; Published: 29 April 2021.

Reviewed by:

Copyright © 2021 Whiteley, Carr and Shattock. 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: Paul Whiteley, paul.whiteley@espa-research.org.uk

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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Examining the Causes of Autism

Editor’s note:.

Autism is a broad, complex, and increasingly important brain disorder. New data from the Center for Disease Control and Prevention indicate that one in sixty-eight children is born with some degree of autism. Autism is also more common in males by a four to one ratio. Making it especially difficult to discuss in finite, conclusive terms is the fact that there is no biological test for autism; diagnosis is based on behavior, and the only verified treatment is intensive behavior therapy. Our author, one of the nation’s foremost researchers on autism, examines the prenatal factors that contribute to the disorder .

As an autism researcher, I often try to put myself in the shoes of parents who have just been told that their child has autism. More and more families in the United States and around the world are facing this difficult news. The families that I’ve seen go through this often respond emotionally at first. Some go through denial; others are sad or furious. But emotions soon give way to questions. What caused my child’s autism? Was I to blame? Which treatments will help? And what does the future hold?

Autism research has made tremendous progress over the last 20 years, but yet we still can’t provide definitive answers to most of these questions. I find the autism community to be proactive, combative, and opinionated. The complexity and ambiguity of autism has spawned myriad speculations about causes—many of which have little supportive evidence. It seems clear at this point, however, that when all is said and done, we will find that autism has multiple causes that occur in diverse combinations.

To begin with, many people struggle to understand the nature of a condition so wide ranging in its severity. Autism Spectrum Disorder (ASD) or autism is a behaviorally defined neurodevelopmental disorder characterized by 1) persistent deficits in social communication and interaction across multiple contexts, and 2) restricted, repetitive patterns of behavior, interests, or activities. Few would dispute that the causes of ASD include both genetic and environmental factors. Indeed, more than 100 genes are known to confer risk 1 , 2 and 1,000 or more may ultimately be identified. 3 A wide range of potential environmental challenges have also been associated with autism, although studies in this area lag behind genomics research. A short overview of data supports genetic and environmental contributions to ASD etiology. A focus on prenatal events will hopefully clarify that the cause of autism, in the vast majority of cases, occurs prenatally, even if behavioral signs first appear several years after birth.

Twin Studies

Strong evidence against the unfounded view that autism results from neglectful parenting came in 1977 from Folstein and Rutter and the first systematic, detailed study of twin pairs containing at least one child with autism. 4 In this study, 11 of the twin pairs were monozygotic (nearly identical genetics) and 10 were dizygotic (shared approximately half of their genome with each other). The major finding was that four of the monozygotic twin pairs were concordant (both had autism), whereas none of the dyzygotic twins were. Beyond autism, nine of the eleven monozygotic pairs were concordant for some form of cognitive impairment, compared to one of ten of the dyzygotic pairs.

The researchers concluded that autism and other neurodevelopmental disorders have a strong genetic component. But environmental factors must also contribute to autism etiology, they pointed out. For the 17 twin pairs that were discordant for autism—one child had a diagnosis and the other did not—the authors speculated that direct damage to the brain might have affected the diagnosed twin. They identified five features known to be associated with brain damage, such as severe hemolytic disease, a delay in breathing of at least five minutes after birth, and neonatal convulsions. In six of the pairs, one twin—always the autistic one—experienced one or more of these insults. Looking further, they found that one of an expanded list of “biological hazards” (e.g., discrepancies in birth weight, a pathologically narrow umbilical cord) occurred in the autistic twin in 6 of the 11 remaining discordant pairs and never in the non-autistic twin. The authors concluded that “some form of biological impairment, usually in the perinatal period, strongly predisposed to the development of autism.”

Since the Folstein and Rutter paper cited above, there have been a total of 13 twin studies focused on autism. All find genetic and environmental contributions to autism, although conclusions about the proportions of the two factors and interpretations have varied substantially. One research team, 5 for example, concluded that a large proportion of the variance in liability (55 percent for strictly defined autism and 58 percent under a broader definition) can be explained by shared environmental factors, whereas genetic heritability accounts for 37 percent. This somewhat surprising finding—that environmental factors contribute more substantially than genetics—has been challenged by a more recent, large-scale twin study, 6 which found that the largest contribution to autism liability comes from additive genetic effects. And, a recent meta-analysis 7 concludes that the causes of autism are due to strong genetic effects, and that shared environmental influences are seen only if autism is very narrowly defined. A brief synopsis of the history of autism twin studies 8 finds that concordance for monozygotic twins is roughly 45 percent, versus 16 percent for dizygotic twins.

The reason for this short review of autism twin studies is to emphasize that even the best evidence for both genetic and environmental etiologies of autism leads to inconsistent conclusions about their proportional contributions. Moreover, twin studies do not typically consider that the cause of autism may involve genetic and environmental factors working together (the so-called gene by environment effect); i.e., certain environmental exposures only cause autism in individuals with a particular genetic composition. The second point is that if autism had a completely genetic etiology, we would expect a much higher concordance rate in monozygotic twins; the actual rate may reflect, in part, that even monozygotic twins do not share an identical environment prenatally. 9 , 10 Therefore, one must seriously search for environmental factors that either alone, or in combination with genetic predisposition, can increase autism risk. What are these factors?

Maternal Infection

If twin studies provide the best evidence for a genetic basis of autism, then naturally occurring pathogen exposures offer the strongest evidence of environmental etiology. The best example is maternal rubella (German measles) infection during pregnancy. Before development and widespread dissemination of effective vaccines, major pandemics occurred every 10 to 30 years. 11 The last of these was from 1963 to 1965 and infected an estimated 10 percent of pregnant women, resulting in more than 13,000 fetal or early infant deaths; 20,000 infants born with major birth defects and 10,000 to 30,000 infants born with moderate to severe neurodevelopmental disorders. Stella Chess, a child psychiatrist at New York University, studied 243 children exposed to rubella during pregnancy 12 , 13 and found that the largest category of neurodevelopmental disorder was intellectual disability, which affected 37 percent of the sample. Nine of these children were also diagnosed with autism; another, without intellectual disability, had a possible diagnosis; and eight a partial syndrome of autism. These numbers would translate to an autism prevalence of 741 per 10,000 rubella-exposed children, just over seven percent. This is striking in comparison to published prevalence rates, at the time of the study, of two to three per 10,000 in the general population. Fortunately, rubella epidemics have ended due to widespread dissemination of the measles, mumps and rubella vaccines and the association of autism with other viral or bacterial infections is weaker than with rubella. 14

Collier et al 15 have pointed out that nearly 64 percent of women surveyed in the US have experienced an infection during their pregnancies. This obviously does not lead to autism or any other neurodevelopmental disorder in most cases.

Examining prenatal environmental factors is best conducted in very large cohorts of subjects that have excellent health care records. This can be done in Scandinavian countries with their nationalized health care systems, and in large health care providers in the US.

One such study, conducted in Denmark, found no association between maternal bacterial or viral infection during pregnancy and diagnosis of ASD in the offspring, 16 although viral infection during the first trimester, or admission to the hospital due to infection during the second trimester were associated with the diagnosis. In a more recent study 17 Atladottir and colleagues found little evidence, overall, that common infectious diseases or fevers (lasting more than seven days) during pregnancy increased the risk of autism—noting, however, that influenza increased the risk of having an autistic child twofold. Use of antibiotics also increased risk. The link between influenza exposure during fetal life and increased risk for autism is in line with a series of animal studies 18 , 19 suggesting that the influenza virus activates the maternal immune system, which may be harmful to fetal brain development. But the Danish researchers seem to downplay even their statistically significant findings, suggesting that their results do not indicate that either mild infection or the use of antibiotics represent strong risk factors for autism.

A parallel set of studies has been carried out by Zerbo and colleagues in California. The first, 20 based on 1,122 children, found no association between maternal influenza and ASD but (in contrast to Atladottir et al), the occurrence of maternal fever did increase risk. A second study 21 of 2,482 children (407 with ASD) found that mothers of children with ASD were diagnosed with viral infections during pregnancy no more often than mothers of non-autistic children. Maternal bacterial infections during the second trimester and the third trimester, however, were associated with a twofold increase in ASD risk, and two or more infections diagnosed in the third trimester with even higher risk, again suggesting a link with more severe infection during pregnancy. The most recent study, 22 based on a large cohort of children (196,929) born between 2000 and 2010, found that neither maternal influenza infection during pregnancy nor influenza vaccination were associated with increased risk for ASD.

In conclusion: Some infections during pregnancy, such as German measles, clearly increase the risk of ASD. However, there seems relatively little evidence that today’s widely experienced infectious illnesses, such as influenza, during pregnancy substantially increase the risk of ASD. Perhaps the signal is weak because of gene by environment effects [as seems to be the case for different strains of mice 23 , 24 ]. If so, evidence will need to come from studies that combine large scale epidemiology with sophisticated genomic analyses.

Maternal Antibodies

Autoimmune diseases (in which immune cells erroneously identify cells in the body as foreign and attack them) mediated by circulating antibodies currently affect as much as nine percent of the world’s population, 25 and the notion that autoimmunity may be associated with neurological and psychiatric disorders goes back to the 1930s. Reviewing this contentious area of research, Goldsmith and Rogers 26 conclude that the literature, though conflicting, “contains a large amount of circumstantial, but not conclusive, evidence for immune dysfunction in patients with schizophrenia.” Interestingly, an auto-immune disorder with antibodies directed at the NMDA receptor causes an encephalopathy, which in its early stages can be indistinguishable from schizophrenia. 27

Precedents for antibody-related CNS disorders include Rasmussen encephalitis, stiff-person syndrome, neuromyelitis optica, post streptococcal movement disorders (Sydenham’s chorea and PANDAS), and systemic lupus erythematosus. 28 Judy Van de Water, of UC Davis, the main proponent of the idea that circulating antibodies may cause some forms of autism, first reported in 2008 that 12 percent of mothers of children with ASD have unusual antibodies directed at fetal brain proteins. 29 Based on more specific assays for these antibodies, she has since proposed that Maternal Antibody-Related (MAR) causes may be associated with as many as 22 percent of autism cases, suggesting that this may be a preventable form of ASD. 30 This area of research is exciting because it suggests potential therapeutic targets. Although many questions remain (e.g., how antibodies would enter the fetal brain, what neurodevelopmental processes they may alter), it is entirely possible that circulating antibodies represent prenatal environmental risk factors for ASD.

Efforts to understand the increased prevalence of autism spectrum disorder have led some to wonder whether the use of various drugs during pregnancy might be partly responsible. Historically, a strong case could be made for an association between autism and thalidomide, a potent sedative that was used (for several years around 1960) during pregnancy for the relief of nausea. A study of 100 adult Swedish patients whose mothers had taken thalidomide while pregnant 31 found that at least four had clear autistic characteristics. This was the first evidence that a drug ingested during pregnancy could substantially increase autism risk. More recently, concerns have been raised about valproic acid and serotonin reuptake inhibitors.

Valproic acid, an approved drug since the early 1960s, is primarily prescribed for epilepsy and seizure control, but also used for ailments ranging from migraine headaches to bipolar disorder. Both animal and human epidemiological studies have raised concerns that valproic acid is a teratogen. The largest epidemiological study to date 32 tracked 415 children, 201 of whom were born to mothers who took antiepileptic medication during their pregnancies. Nearly 7.5 percent of the children of the treated women had a neurodevelopmental disorder, primarily some form of autism, versus 1.9 percent in the non-epileptic women.

A recent concern has been the use of serotonin reuptake inhibitors (SSRIs) for the treatment of depression during pregnancy. Serotonin is an important brain neurotransmitter that plays a significant role in functions ranging from sleep to mood to appetite, and whose dysregulation during early fetal life can have serious negative consequences for brain development. 33 As the name implies, SSRIs, which have been in use since the late 1980s, delay the reuptake of serotonin from the synaptic cleft into the presynaptic terminal and thus enhances its effect on the postsynaptic receptors. A recent review and meta-analysis of six case-control studies and four cohort studies concluded that SSRI use during pregnancy 34 was significantly associated with increased risk of ASD in offspring.

The effect was most prominent with use of the drugs during the first and second trimesters of pregnancy. Interestingly, the researchers found that preconceptual exposure to SSRIs was also associated with increased ASD risk—as was the use of non-SSRI antidepressants. They note that a large cohort study found that, while ASD rates in the SSRI-exposed group were significantly higher than in the unexposed group, the rates in the SSRI-exposed group did not significantly differ from those among mothers with unmedicated psychiatric disorder and those who had discontinued SSRIs. It currently appears impossible to disentangle the deleterious effect of SSRIs from the fact of a maternal condition that necessitates the drug. Many authors also comment on the potentially worse effect on pregnancies of untreated maternal depression.

In sum, a brief review of the literature indicates that ingesting some drugs during pregnancy increases the risk of ASD, suggesting the need for more careful evaluation of drug safety during fetal development prior to widespread medical use.

Environmental Toxicants

Beyond viral and bacterial pathogens and medically prescribed drugs, researchers have begun investigating environmental toxicants. These range from automobile-produced air pollution to cigarette smoke to heavy metals and pesticides. 35 , 36 Small increases in autism risk have been reported if, for example, a family lives closer to a freeway or to an agricultural area during pregnancy. The field of autism environmental epidemiology is still in its infancy and techniques to comprehensively establish a prenatal “exposome” (i.e., all environmental factors affecting a fetus during pregnancy) are still under development. That said, given the unlikelihood that all autism will be explained by genetic factors, the determination of environmental causes, some of which might be avoided or minimized, may have far greater translational impact than the much better funded genetic studies. Strategies for exploring gene-by-environment interactions need to be enhanced with haste.

Postnatal Factors

Since autism is a neurological disorder that undoubtedly reflects altered brain function, it is possible that the insult to the brain occurs after birth. There is currently very little evidence for this. One historical concern was that vaccines, such as the measles, mumps, and rubella (MMR) vaccine, administered initially when the child is about one-year old, might transform a healthy child into one with autism. This fear was fueled by regressive onset in some cases—a child seems fine for the first year or so, then loses social and language function and regresses into a classical autistic syndrome. But we have found that even in children who demonstrate this regressive form of autism, brain changes begin by four to six months, long before behavior changes. 37 Moreover, many large-scale epidemiologic studies have unequivocally demonstrated no link between MMR administration and the risk of ASD (summarized in 38), the same conclusion that the US National Academy of Sciences reached in a thorough review carried out in 2011. 39

The only other postnatal experience that has been linked to the onset of ASD is profound social isolation in institution-reared children, such as those in the Romanian orphanage system. 40 Rutter and colleagues 41 found that nearly 10 percent of children raised in Romanian orphanages and adopted by British families showed some features of autism. These children were very poorly treated in the orphanage (most were underweight and had intellectual disability and various medical problems). While fully qualifying for an autism diagnosis at age 4, they showed substantial improvement and less severe autism symptoms by age 6. Is this truly autism? The authors conclude: “The characteristics of these children with autistic features, although phenomenologically similar in some respects to those found in “ordinary” autism, differed sharply in the marked improvement evident between 4 and 6 years of age and in the degree of social interest... The quasi-autistic pattern seemed to be associated with a prolonged experience of perceptual and experiential privation, with a lack of opportunity to develop attachment relationships, and with cognitive impairment.”

This sad epoch demonstrates both the potential for severely abnormal rearing practices to influence brain regions that are affected by typical causes of autism, and the resilience of the brain in compensating and restoring once the individual is placed in a more normal environment. But it does not provide evidence for the postnatal genesis of autism.

The research picture regarding the causes for Autism Spectrum Disorder remains complex, although there is certainly a very strong genetic component. While there are some genes, such as CHD8, the mutation of which almost always cause autism in a very low percentage of cases 42 most mutations seem to confer small increases in risk. Similarly, while some environmental factors, such as rubella infection or fetal exposure to valproic acid, have been highly associated with autism risk, the increase in risk associated with others, such as living close to a highway, is small. It is very likely that the answer to what causes autism will not reside solely in genetics or in environment but in a combination of the two. Whatever factors go into the mix, they most likely have their effect during fetal life: a person with autism is born with autism.

David G. Amaral , Ph.D., is a Distinguished Professor in the Department of Psychiatry and Behavioral Sciences at UC Davis. He is also the Beneto Foundation Chair and Research Director of the MIND Institute, which is dedicated to studying autism and other neurodevelopmental disorders. As research director, he coordinates a multidisciplinary analysis of children with autism called the Autism Phenome Project to define clinically significant subtypes of autism. More recently, Amaral has become Director of Autism BrainNet, a collaborative effort to solicit postmortem brain tissue to facilitate autism research. In April of 2015, Amaral became editor-in-chief of Autism Research , the journal of the International Society for Autism Research. In 2016, he was appointed to the Interagency Autism Coordinating Committee by the Secretary of Health and Human Services. Amaral received a joint Ph.D. in neuroscience and psychology from the University of Rochester and conducted postdoctoral research at the Department of Anatomy and Neurobiology at Washington University. He also conducted research at the Salk Institute for Biological Studies and served as an adjunct professor in the Department of Psychiatry at UC San Diego.