• 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.

figure 1

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

Department of Central Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, China

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LQ, HW and WN wrote the draft of the manuscript. MC and QW revised this manuscript. All the listed authors have made a substantial, direct, and intellectual contribution to the work, and approved its publication.

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

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Welcome to the website of the  Autism and Developmental Disorders Research Program (ADDRP) , Lucile Packard Children's Hospital at Stanford University.  This Stanford autism research program is based in the  Department of Psychiatry and Behavioral Sciences  at the Stanford University School of Medicine.

ADDRP focuses on improving the quality of life of individuals with autism spectrum disorder and/or intellectual disabilities. Through research methods that range from clinical trials, neuroimaging investigations, behavioral analysis to basic science methods, the researchers at ADDRP are committed to developing effective treatment strategies and identifying the causes of these conditions.

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Acknowledgements

The Stanford Autism and Developmental Disorders Research Program would like to thank the children, as well as their parents and families, for contributing to research. The joint effort to better understand and provide therapies for developmental disorders is not possible without their past and continued involvement.

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Autism spectrum disorder

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Autism spectrum disorder (ASD) refers any one of a group of disorders with an onset typically occurring during the preschool years and characterized by difficulties with social communication and social interactionalong with restricted and repetitive patterns in behaviors, interests, and activities.

Autism, Asperger’s syndrome, and childhood disintegrative disorder are no longer considered distinct diagnoses, and medical or genetic disorders that may be associated with ASD, such as Rett’s syndrome, are identified only as specifiers of the disorder.

Adapted from the APA Dictionary of Psychology

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Knowing me, knowing you: Self defining memories in adolescents with and without an autism spectrum disorder

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Autism Spectrum Disorder Articles

At a glance.

Below is a list of recent scientific articles on autism spectrum disorder (ASD) generated from CDC programs and activities.

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Key findings and scientific articles

Key findings.

These key findings provide brief summaries of some of CDC's latest ASD research.

Key Findings: ADDM Network Expands Surveillance to Identify Healthcare Needs and Transition Planning for Youth

Five of CDC's ADDM Network sites (Arkansas, Georgia, Maryland, Utah, and Wisconsin) began monitoring autism spectrum disorder (ASD) in 2018 among 16-year-old adolescents who were initially identified as having characteristics of ASD in 2010. (Published: February 25, 2023)

Key Findings: Study Shows Linking Statewide Data for ASD Prevalence is Effective

Linking statewide health and education data is an effective way for states to have actionable local ASD prevalence estimates when resources are limited. (Published: January 18, 2023)

Key Findings: CDC Releases First Estimates of the Number of Adults Living with Autism Spectrum Disorder in the United States

This study fills a gap in data on adults living with ASD in the United States because there is not an existing surveillance system to collect this information. (Published May 10, 2020)

CDC scientific articles

These articles are either from CDC-funded research or have at least one CDC author. These articles are listed by year of publication, with the most recent first.

  • Adolescents With Autism Spectrum Disorder: Diagnostic Patterns, Co-occurring Conditions, and Transition Planning. Hughes MM, Shaw KA, Patrick ME, et al. J Adolesc Health. 2023;73(2):271-278.
  • Statewide county-level autism spectrum disorder prevalence estimates—seven U.S. states, 2018. Shaw KA, Williams S, Hughes MM, et al. Ann Epidemiol. 2023;79:39-43.
  • The Prevalence and Characteristics of Children With Profound Autism, 15 Sites, United States, 2000-2016. Hughes MM, Shaw KA, DiRienzo M, et al. Public Health Rep. 2023;138(6):971-980.
  • Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years—Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020. Maenner MJ, Warren Z, Williams AR, et al. MMWR Surveill Summ. 2023;72(2):1-14. Published 2023 Mar 24. [ Easy-Read Summary ]
  • Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years—Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020. Shaw KA, Bilder DA, McArthur D, et al. MMWR Surveill Summ. 2023;72(1):1-15. Published 2023 Mar 24. [ Easy-Read Summary ]
  • Social vulnerability and prevalence of Autism Spectrum Disorder, Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP). Patrick ME, Hughes MM, Ali A, Shaw KA, Maenner MJ. Ann Epidemiol. 2023;83:47-53.e1.
  • Individualized Education Programs and Transition Planning for Adolescents With Autism. Hughes MM, Kirby AV, Davis J, et al. Pediatrics. 2023;152(1):e2022060199. [ Watch Video Abstract ]

" There is no epidemic of autism. It's an epidemic of need." ‎

Two authors provide their commentary on CDC's 2023 Community Report in an article published in ST A T News' First Opinion (March 2023).

Read the full article here.

  • Toileting Resistance Among Preschool-Age Children With and Without Autism Spectrum Disorder. Wiggins LD, Nadler C, Hepburn S, Rosenberg S, Reynolds A, Zubler J. J Dev Behav Pediatr. 2022;43(4):216-223.
  • Defining in Detail and Evaluating Reliability of DSM-5 Criteria for Autism Spectrum Disorder (ASD) Among Children Rice CE, Carpenter LA, Morrier MJ, et al. J Autism Dev Disord. 2022;52(12):5308-5320. [published correction appears in J Autism Dev Disord. 2022 Jan 29;:].
  • Reasons for participation in a child development study: Are cases with developmental diagnoses different from controls? Bradley CB, Tapia AL, DiGuiseppi CG, et al. Paediatr Perinat Epidemiol. 2022;36(3):435-445.
  • Features that best define the heterogeneity and homogeneity of autism in preschool-age children: A multisite case–control analysis replicated across two independent samples. Wiggins LD, Tian LH, Rubenstein E, et al. Autism Res. 2022;15(3):539-550.
  • Progress and Disparities in Early Identification of Autism Spectrum Disorder: Autism and Developmental Disabilities Monitoring Network, 2002–2016. Shaw KA, McArthur D, Hughes MM, et al. J Am Acad Child Adolesc Psychiatry. 2022;61(7):905-914.
  • Peri-Pregnancy Cannabis Use and Autism Spectrum Disorder in the Offspring: Findings from the Study to Explore Early Development. DiGuiseppi C, Crume T, Van Dyke J, et al. J Autism Dev Disord. 2022;52(11):5064-5071.
  • Heterogeneity in Autism Spectrum Disorder Case-Finding Algorithms in United States Health Administrative Database Analyses. Grosse SD, Nichols P, Nyarko K, Maenner M, Danielson ML, Shea L. J Autism Dev Disord. 2022;52(9):4150-4163.
  • Early identification of autism spectrum disorder among children aged 4 years—Autism and Developmental Disabilities Monitoring Network, 11 sites, United States, 2018. Shaw KA, Maenner MJ, Bakian AV, et al. MMWR Surveill Summ. 2021;70(10):1-14. Published 2021 Dec 3.
  • Prevalence and characteristics of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2018. Maenner MJ, Shaw KA, Bakian AV, et al. MMWR Surveill Summ. 2021;70(11):1-16. Published 2021 Dec 3.
  • Comparison of 2 Case Definitions for Ascertaining the Prevalence of Autism Spectrum Disorder Among 8-Year-Old Children. Maenner MJ, Graves SJ, Peacock G, Honein MA, Boyle CA, Dietz PM. Am J Epidemiol. 2021;190(10):2198-2207.
  • Healthcare Costs of Pediatric Autism Spectrum Disorder in the United States, 2003–2015. Zuvekas SH, Grosse SD, Lavelle TA, Maenner MJ, Dietz P, Ji X. J Autism Dev Disord. 2021;51(8):2950-2958.
  • Association between pica and gastrointestinal symptoms in preschoolers with and without autism spectrum disorder: Study to Explore Early Development. Fields VL, Soke GN, Reynolds A, et al. Disabil Health J. 2021;14(3):101052.
  • Health Status and Health Care Use Among Adolescents Identified With and Without Autism in Early Childhood—Four US Sites, 2018–2020. Powell PS, Pazol K, Wiggins LD, et al. MMWR Morb Mortal Wkly Rep. 2021;70(17):605-611. Published 2021 Apr 30.
  • Evaluation of sex differences in preschool children with and without autism spectrum disorder enrolled in the study to explore early development. Wiggins LD, Rubenstein E, Windham G, et al. Res Dev Disabil. 2021;112:103897.
  • A Distinct Three-Factor Structure of Restricted and Repetitive Behaviors in an Epidemiologically Sound Sample of Preschool-Age Children with Autism Spectrum Disorder. Hiruma L, Pretzel RE, Tapia AL, et al. J Autism Dev Disord. 2021;51(10):3456-3468.
  • Spending on Young Children With Autism Spectrum Disorder in Employer-Sponsored Plans, 2011–2017 Grosse SD, Ji X, Nichols P, Zuvekas SH, Rice CE, Yeargin-Allsopp M. Psychiatr Serv. 2021;72(1):16-22. [published correction appears in Psychiatr Serv. 2021 Jan 1;72(1):97].
  • A Preliminary Epidemiology Study of Social (Pragmatic) Communication Disorder Relative to Autism Spectrum Disorder and Developmental Disability Without Social Communication Deficits. Ellis Weismer S, Rubenstein E, Wiggins L, Durkin MS. J Autism Dev Disord. 2021;51(8):2686-2696.
  • CE: From the CDC: Understanding Autism Spectrum Disorder. Christensen D, Zubler J. Am J Nurs. 2020;120(10):30-37.
  • Early Identification of Autism Spectrum Disorder Among Children Aaged 4 Years—Early Autism and Developmental Disability Monitoring Network, Six Sites, United States, 2016. Shaw KA, Maenner MJ, Baio J, et al. MMWR Surveill Summ. 2020;69(3):1-11. Published 2020 Mar 27.
  • Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years—Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016. Maenner MJ, Shaw KA, Baio J, et al. MMWR Surveill Summ. 2020;69(4):1-12. Published 2020 Mar 27. [published correction appears in MMWR Morb Mortal Wkly Rep. 2020 Apr 24;69(16):503].
  • Disparities in Documented Diagnoses of Autism Spectrum Disorder Based on Demographic, Individual, and Service Factors. Wiggins LD, Durkin M, Esler A, et al. Autism Res. 2020;13(3):464-473.

SEED Research

Researchers working on CDC's Study to Explore Early Development (SEED) have published many studies reporting on important findings related to ASD.

For more information on the methods and descriptions of the SEED study sample, SEED publications, and the evaluation of clinical and laboratory methods using SEED data, click the link below.

Featured Article | Summer 2023

Cdc seed study explores prenatal ultrasound use and risk of autism spectrum disorder.

Doctor using ultrasound machine on pregnant person

Prenatal ultrasound use and risk of autism spectrum disorder: Findings from the case-control Study to Explore Early Development (SEED). Christensen D, Pazol K, Overwyk KJ, et al. Paediatr Perinat Epidemiol. 2023;37(6):527-535.

Study findings‎

Many additional studies are underway. We will provide summaries of those studies in the future.

All articles

Search CDC Stacks for articles that have been published by CDC authors within the National Center on Birth Defects and Developmental Disabilities from 1990 to present.

Feature articles and an Easy-Read Summary

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Easy-Read Summary

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Additional resources

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Autism Spectrum Disorder (ASD)

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

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Research articles covering work related to austism spectrum disorders are provided below.

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New Imaging Technique Identifies Autism Markers with 95% Accuracy

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Gender Nonconformity in Play Linked to ASD and Behavioral Problems

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Early Brain Changes May Trigger Autism

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Brain Overgrowth Linked to Autism Symptom Severity

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AI Model Predicts Autism in Toddlers with 80% Accuracy

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20% Increased ASD Risk for Kids with Autistic Siblings

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BPA Exposure in Pregnancy Linked to Autism Risk

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Neurodivergence Linked to Chronic Fatigue in Children

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Umbilical Cord Blood Test Could Predict Autism Risk

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Cancer Drug Shows Promise for Autism Cognitive Function

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Healthy Prenatal Diet Linked to Lower Autism Risk

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CBD and Metformin Show Promise for Autism Disorders

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Chemical Exposure May Lead to Early Puberty in Girls

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How Flickering Light Induces Hallucinations

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AI Determines How the Brain Predicts and Processes Thoughts

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Varied Cognitive Training Boosts Learning and Memory

College of Education and Human Development

Department of Educational Psychology

Research topics: Autism

Identifying, preventing, and developing interventions related to autism spectrum disorder.

Autism spectrum disorder (ASD) and autism are both general terms for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. Research in the Department of Educational Psychology focuses on early identification, prevention measures, and interventions related to ASD.

LeAnne Johnson

Johnson (special education) researches interventions to improve outcomes for a range of preschool and elementary school-aged children who are at high risk given social, emotional, behavioral, and communication needs. Johnson is focused on creating the next generation of intervention studies that support high fidelity implementation of evidence-based interventions within tiered intervention and prevention models. This includes research projects that are designed to test the efficacy of social-communication interventions for children with autism.

Jason Wolff

Wolff (special education) runs a lab funded funded in-part by the National Institute of Mental Health with two goals -- to leverage brain imaging data to characterize factors associated with the early emergence of behavioral excesses and deficits in autism spectrum disorder, and to identify potential neurodevelopmental moderators of response to early intervention. The ultimate goal of this work is to determine how brain and behavioral data may be used to inform the timing and content of early or even preventative interventions.

Panayiota Kendeou

Kendeou (psychological foundations of education) investigates how people learn new knowledge and revise pre-existing incorrect knowledge or misinformation during their reading experiences. She is currently investigating how misinformation that resists correction influences reasoning and decision making in health issues pertaining to ASD (e.g., reliance on ineffective treatments, withholding vaccinations), and explore ways for effective revision.

M.Y. Savana Bak

Bak's research focuses on measurement and analysis of language in children with ASD using language samples collected from the children’s natural environment. She strives to develop practical interventions and identify environmental factors that facilitate language development and increase social interaction in children with ASD.

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Autism Spectrum Disorder

What is asd.

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

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

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

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

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

What are the signs and symptoms of ASD?

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

Social communication / interaction behaviors may include:

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

Restrictive / repetitive behaviors may include:

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

People with ASD may also experience sleep problems and irritability.

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

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

What are the causes and risk factors for ASD?

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

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

How is ASD diagnosed?

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

Diagnosis in young children

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

Stage 1: General developmental screening during well-child checkups

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

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

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

Stage 2: Additional diagnostic evaluation

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

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

The diagnostic evaluation is likely to include:

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

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

  • Blood tests
  • Hearing test

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

Diagnosis in older children and adolescents

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

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

Diagnosis in adults

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

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

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

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

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

What treatment options are available for ASD?

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

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

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

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

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

Behavioral, psychological, and educational interventions

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

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

Other resources

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

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

How can I find a clinical trial for ASD?

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

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

To learn more or find a study, visit:

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

Where can I learn more about ASD?

Free brochures and shareable resources.

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

Federal resources

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

Research and statistics

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

Last Reviewed:  February 2024

Unless otherwise specified, the information on our website and in our publications is in the public domain and may be reused or copied without permission. However, you may not reuse or copy images. Please cite the National Institute of Mental Health as the source. Read our copyright policy to learn more about our guidelines for reusing NIMH content.

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

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

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

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

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

Products & Services

  • Children’s Book: My Life Beyond Autism

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

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

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

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

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

Social communication and interaction

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

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

Patterns of behavior

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

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

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

When to see a doctor

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

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

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

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

There is a problem with information submitted for this request. Review/update the information highlighted below and resubmit the form.

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

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

No link between vaccines and autism spectrum disorder

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

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

Risk factors

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

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

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

Complications

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

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

More Information

  • Autism spectrum disorder and digestive symptoms

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

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

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How patterns of conversation could help identify early signs of autism in children

by Vittorio Tantucci, The Conversation

conversation with child

Autistic children—and adults—often communicate differently to neurotypical people. Key characteristics of autistic speech can include less eye contact , focusing on the details rather than the overall gist of a conversation, and favoring literal meaning: autistic people may find it more challenging to guess if something is being implied rather than said directly .

These differences may make some communication between autistic children and the adults in their lives difficult. But understanding them can help.

My research with colleagues has explored how autistic and neurotypical children imitate their parents' speech during a conversation .

Imitation is an aspect of language and communication that starts from birth. When people talk with others, they often repeat what they say, mirror their gestures, align with their tone of voice and even their accent.

This takes place as a learning process , but also to conform socially . It displays engagement , signaling to others in the conversation that they are being heard and understood .

The kind of imitation we looked at, known as "resonance" , involves re-using the speech of others during a conversation. Imagine me asking you: "Have you had a nice weekend?" and you responding: "Yes." This is a case where there would be no resonance in your response. You would answer my question but not engage with my words.

Had you instead answered something like: "I had quite an interesting weekend actually, I went to Paris," you would then "resonate" with several words in my question ("weekend," "had") and engage creatively with them (replacing "nice" with "interesting").

Speaking and imitating

In our research, we looked at this form of imitation between children and their mothers. Our study involved a total of 180 Mandarin-speaking children ranging from 37 to 60 months of age (roughly from 3 up to 5 years old).

We included both neurotypical and neurodiverse children, and we looked at their verbal imitation—how they spontaneously re-used and re-formulated the words that had been said to them. We found that autistic children were much less likely to make use of this kind of imitation.

An example from our research is a mother opening a book and saying: "The fox was so scared that it ran away." This was resonated by a her neurotypical daughter in a way to engage with her words: "She was so scared and ran away all in a hurry."

This form of verbal imitation was rarer among autistic children, as they re-used their parents' words much less frequently and creatively.

Resonance involves the ability to quickly "improvise" with the words of others. We found that children diagnosed with autism spectrum disorder are less likely to do this this than neurotypical children. An autistic child often might repeat the same phrase used by their mother, but without embellishing or re-using the words in a creative way.

This is not to say they were not capable of resonating creatively with their mother's words, but that they did it significantly less.

This could be because creativity in autistic people may be more frequently expressed in social isolation , and becomes more challenging during a conversation. Put simply, creativity is not impeded in autism spectrum disorder , but what is more difficult for autistic people is the ability to be creative with the words of others during a conversation.

This finding gives us a new awareness of how parents, clinicians and educators can identify early signs of autism in children's development. It can help parents of autistic children understand why their child's patterns of speech, and how they respond to other people, may be different to neurotypical children.

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Autism and autism spectrum disorder are terms for a group of disorders caused by problems with early-life brain development. Individuals with one of these conditions may have difficulty communicating or interacting socially. They may also have unusual patterns of behavior, interests, and activities.

Until recently, experts identified several different kinds of autism disorders, such as autism, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder. But with the publication in 2013 of the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (known as DSM-5), all autism disorders were merged into the umbrella diagnosis of autism spectrum disorder.

Symptoms of autism spectrum disorder may appear as early as the first year of life. But it may not be until a child is two or three years old—and sometimes older—that signs of autism become apparent.

Although there is no cure for autism spectrum disorder, education, behavioral management, and medications may help individuals with this condition.

Some individuals with autism spectrum disorders are able to live independently. Others struggle to maintain normal social interactions, communication, and behaviors.

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Computer Science > Machine Learning

Title: mcdgln: masked connection-based dynamic graph learning network for autism spectrum disorder.

Abstract: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by complex physiological processes. Previous research has predominantly focused on static cerebral interactions, often neglecting the brain's dynamic nature and the challenges posed by network noise. To address these gaps, we introduce the Masked Connection-based Dynamic Graph Learning Network (MCDGLN). Our approach first segments BOLD signals using sliding temporal windows to capture dynamic brain characteristics. We then employ a specialized weighted edge aggregation (WEA) module, which uses the cross convolution with channel-wise element-wise convolutional kernel, to integrate dynamic functional connectivity and to isolating task-relevant connections. This is followed by topological feature extraction via a hierarchical graph convolutional network (HGCN), with key attributes highlighted by a self-attention module. Crucially, we refine static functional connections using a customized task-specific mask, reducing noise and pruning irrelevant links. The attention-based connection encoder (ACE) then enhances critical connections and compresses static features. The combined features are subsequently used for classification. Applied to the Autism Brain Imaging Data Exchange I (ABIDE I) dataset, our framework achieves a 73.3\% classification accuracy between ASD and Typical Control (TC) groups among 1,035 subjects. The pivotal roles of WEA and ACE in refining connectivity and enhancing classification accuracy underscore their importance in capturing ASD-specific features, offering new insights into the disorder.
Comments: 8 pages, 7 figures
Subjects: Machine Learning (cs.LG); Artificial Intelligence (cs.AI)
Cite as: [cs.LG]
  (or [cs.LG] for this version)
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MSc | Postgraduate Taught

Autism spectrum disorders.

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This programme was developed in consultation with the education, health and social care, and voluntary sectors, as well as individuals affected by Autism Spectrum Disorder (ASD), and is designed to facilitate the professional development of teachers and other related professionals who work, or wish to work, in this area. The course is fully online. The course is hosted by the Centre for Behaviour Analysis at Queen's University Belfast. In line with the needs identified in the Northern Ireland Executive's Autism Strategy and associated Action Plans, the course has been attuned to raising awareness, addressing issues specifically related to children and adults on the autism spectrum, and increasing knowledge and skills in relation to evidence-based interventions. The aim is to enable the study of the theory and practice underpinning the specialist area in order to enhance understanding and ability to engage in research- and evidence-based practice. On completion of the degree, students will have: - developed a breadth of knowledge and understanding of the special needs of children, young people and adults diagnosed with autism - shown evidence of critical reflection on their professional practice and be able to apply relevant research literature to both personal and professional experience - acquired a range of specialised practical skills which will enhance their ability to support pupils and students in a variety of settings - developed teamwork skills required to work in partnership, supporting and advising other colleagues. Please note that there is no practice placement provided as part of this course. Please note that unfortunately this course is not eligible for a Student visa. Closing date for applications: Friday 28th June 2024 at 4pm.

Over 83% of research submitted by colleagues based in the Education Unit of Assessment was judged to be ‘World Leading’ or ‘Internationally Excellent' by a peer review panel (REF2021).

Autism Spectrum Disorders highlights

Student experience.

Flexibility This programme is designed to meet the needs of professionals and is delivered via online learning. Diploma and Certificate exit route options are also available.

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Innovation One of the core modules of the programme is based on the Behavior Analyst Certification Board (BACB) Task Lists (e.g., Fundamental Elements of Behaviour Change). Optional modules that are based on the BACB list also are online (i.e. Behaviour Change and Education; Concepts and Principles of Behaviour Analysis).

Career Development

Employability The programme provides a range of theoretical and practical skills for teaching and supporting pupils, students and residents with autism in a variety of settings; the teamwork skills needed to support and advise colleagues; and the knowledge and understanding of the special needs of individuals with autism.

Credit transfer Students who have completed other Master's-level awards, e.g., PGCE, within the last 10 years are eligible to credit transfer (max. 60 credit points). The credit transfer application must be submitted at the same time as the online programme application as retrospective applications are not accepted.

Student Testimonials

"I would recommend this program to parents and working professionals as the program is very accessible and accommodating for those with busy home and work schedules. It provides a basic framework about the key principles and concepts associated with Autism Spectrum Disorders as well as Applied Behaviour Analysis." Erica Steele

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Students may enrol on a full-time (1 year) or part-time (up to 3 years) basis. Individual modules may be studied as a short course. Part-time students typically complete one or two modules per semester. Full-time students typically complete three modules per semester. The MSc is awarded to students who successfully complete six taught modules (120 CATS points) and a research dissertation (60 CATS points). Exit qualifications are available: students may exit with a Postgraduate Diploma by successfully completing 120 CATS points from taught modules or a Postgraduate Certificate by successfully completing 60 CATS points from taught core modules. The course includes four core/compulsory modules and two optional modules. An Introduction to Research Methods: Children, Young People and Education (online) Fundamental Elements of Behaviour Change (online) Understanding Adults with ASD (online) Understanding Children with ASD (online) Two optional taught modules may be chosen from the Applied Behaviour Analysis (MSc) programme. The topic for the Masters dissertation is to be chosen by the student, in discussion with their supervisor.

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SSESW Professor Karola Dillenburger is a clinical psychologist and Board Certified Behaviour Analyst-Doctoral (BCBA-D). Her main research leadership concerns Applied Behaviour Analysis and evidence-based decision making and intervention in Autism Spectrum Disorders (ASD).

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Learning and teaching.

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Assessments associated with this course are outlined below:

  • There are no written examinations. Modules are assessed by a variety of assessment methods, e.g., written assignments, project reports, online multiple-choice tests, or weekly contributions to online fora. Active student participation is required for all modules. The dissertation is assessed via an extensive piece of written work.

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“The MSc in ASD is aimed at professionals working in education, health and social care, with a specific focus on autism spectrum and special needs. The course is suitable for anyone who works with autistic children, adolescents and/or adults. This course is unique in Northern Ireland and Ireland and is easily accessible for students from further afield. This course can be taken either online, thus allowing for a flexible learning experience and student mobility.” Professor Karola Dillenburger, Programme Director https://www.youtube.com/watch?v=TcU0hIZ-JvA

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The information below is intended as an example only, featuring module details for the current year of study (2024/25). Modules are reviewed on an annual basis and may be subject to future changes – revised details will be published through Programme Specifications ahead of each academic year.

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Fundamental elements of behaviour change.

This module introduces students to the study of fundamentals of and specific procedures for behaviour change. The module is part of the Association for Behavior Analysis International (ABAI) Verified Course Sequence offered at Queen’s University Belfast. Its August 2021 7 contents are based on the BCBA 6th Edition Test Content Outline and it covers the required 60 hours of Behaviorism and Philosophical Foundations (A1-2), Concepts and Principles (B4, 5, 9, 11), Behavior-Change Procedures (G1, 4, 7, 9-17), and Selecting and Implementing Interventions (H1).

Learning Outcomes

Students who successfully complete this module will gain foundational knowledge of the fundamental elements of behaviour change. They will be able to describe basic principles and concepts using scientific terms (e.g., reinforcement, punishment, extinction, prompting, shaping, etc.). Second, students will be able to describe in scientific terms specific behaviour change procedures, such as discrimination training procedures and contingency contracting. Finally, they will be able to apply these procedures in a theoretical setting to achieve behaviour change

On successful completion of this module students will have the following subject specific skills: 1. Describe in scientific terms the fundamental elements of behaviour change procedures. 2. Design a specific behaviour analytic procedure and to achieve behaviour change. They will also have generic, transferable skills such as: 1. Critically analyse and apply creative thinking to problems. 2. Communicate effectively, both in writing and virtually. 3. Work as a member of an interdisciplinary team.

Examination

Module Code

Teaching period, pre-requisite, core/optional, understanding adults with asd.

This module is designed to assist participants to develop and extend their skills in understanding the needs of adults with Autistic Spectrum Disorder and their families. Participants will examine issues of identification, adult diagnosis, mental health, and transitions, as well as challenging behaviours, communication, and sensory issues, relationships, sexuality, self-advocacy, and neuro-diversity. The module will consider the implications of an ASD diagnosis for the nuclear and extended family, including siblings, grandparents, wives/husbands and sons/daughters of adults with ASD, etc.. Implications for schools, homes and employment will also be addressed.

An understanding of the diagnostic criteria and associated features of Autistic Spectrum Disorder. An understanding of the range of individual differences in adults on the autistic spectrum. An understanding of recent issues and debates in regard to adults with ASD.

On successful completion of this module students will have subject specific skills Identifying and assessing adults with ASD Understanding issues related adulthood and ASD, ie transitions, employment, relationships, advocacy Translating theory into practice They will also have generic, transferable skills such as Critically analyse and apply creative thinking to problems, Communicate effectively, both in writing and ‘virtually’,

An Introduction to Research Methods: Children, Young People and Education (online)

This introductory research methods module (online version) is compulsory for all Masters students in the School of Education and assumes no previous experience or knowledge of research methods. The aim of the module is to provide a general research overview and to contextualize the broad range of approaches and debates that are evident within contemporary educational research. The module aims to provide students with an understanding of the theory and an appreciation of the differing perspectives that underpin quantitative and qualitative methodologies. Students will be introduced to the ethical issues related to educational research as well as a range of methodological approaches, within which the key theoretical and practical issues will be addressed.

By the end of the module students will be able to: 1. Critically discuss the historical development and philosophical underpinnings of educational research 2. Identify the key ethical issues involved in educational research 3. Demonstrate critical awareness and understanding by discussing the strengths and weaknesses of quantitative and qualitative approaches to research methods 4. Demonstrate conceptual understanding to formulate a research question and identify an appropriate methodological approach

On successful completion of this module students will have gained the following: i) Key skills - Develop critical, analytical and creative thinking and problem solving skills - Enhance communication and ICT skills ii) Subject specific skills - Understand a range of research approaches in education - Ability to select an appropriate research design to an education-related research problem iii) Employability skills - Awareness of the relevance and applicability of research in the educational setting - Insight into the transferability of research skills to other areas of teaching and learning

Understanding Children with ASD

This module is designed to assist participants to develop and extend their skills in understanding the needs of children (aged 0-18) with ASD and their families. Participants will examine issues of definition, identification, diagnosis and assessment, and early intervention, as well as communication and sensory issues across childhood and adolescence. The module will consider the implications of the ASD diagnosis for the nuclear and extended family, including siblings, grandparents, parents. Implications for teaching and learning in school and home-based programmes as well as transitions between school and home will also be addressed.

An understanding of the diagnostic criteria for Autistic Spectrum Disorder. An understanding of the range of individual differences in children on the autistic spectrum. An understanding of the implications of ASD on family and for education.

Identifying and assessing children with ASD. Translating assessment results into appropriate Individual Education Plans-Care Plans. Translating theory into practice.

Dissertation

The module is concerned with the production of a 15-20k word dissertation. Supervision takes place on a one-to-one basis. The dissertation may be composed of a literature review, systematic review, meta-analysis, secondary data analysis or an empirical study in an area of educational research.

By the end of the module students will be able to: 1. Identify and discuss the ethical issues involved in educational research 2. Discuss the strengths and weaknesses of quantitative and qualitative approaches to research methods 3. Choose an appropriate research design and analysis to address a specific research question

Skills Appropriate selection and use of a range of research methods and analysis techniques; Quantitative and / or qualitative data analysis Data presentation and report writing.

Optional Modules

Behaviour analysis for effective teaching.

The overall proposed course reflects the sustainable development goals for quality education. Course contents will include an introduction to the theory and concepts of the scientific discipline of behaviour analysis and will introduce specific evidence-based applications that can be used in an educational setting. There will be a focus on describing and critically evaluating the scientific background and research methods that are used in behaviour analysis. All of the contents will be based on behaviour analytic principles and derived technologies and will focus on positive supports that can be successfully implemented into an educational setting for an individual or a whole class. These will be recorded and available for viewing at all times for the students for reflection and further learning. Students will be expected to contribute to weekly discussion fora on topics covered in that academic week to aid peer learning and interaction. A 3000-word assignment will be completed at the end of the module focusing on a topic of their choosing from the course contents. This proposed module aligns with the sustainable development goals of higher quality education within the school. The theory and practical examples that are introduced enable students to utilise their learning immediately in a real-life environment thus contributing, in a positive manner, to the academic achievement of learners to realise their potential under their care, thus resulting in long-term educational change. The contents introduce innovative, applied evidence-based teaching methods that will provide students, upon completion, with the resilience to succeed after graduation in their chosen career area. All teaching will be delivered via online platforms thus ensuring that there is no restriction or limitation to students in full-time employment or with family commitments – this flexibility is an important element to ensure that there is no barrier to education. There is a rebalancing of the assessment in this module in that the end assignment will not simply be a summative one; instead, the focus will be on how the module applies to the student’s own working environment thus showing generality of learning from theory to practice. The weekly discussion fora will provide students with an element of self-reflection via formative learning – these will enable them, as a cohort, to identify gaps in their learning and improve on these via supportive feedback from both module convenor and peers. The overall proposed module will help students have the most optimal environment for their learning experience.

1. Students will acquire both a theoretical and practical understanding of behaviour analytic supports that could be successfully utilised within an educational setting. 2. Students will be equipped with the necessary skills to implement evidence-based interventions for successful behaviour change/management. 3. Students will be able to critically analyse and report on current trends in educational settings for behaviour management.

1. The skill to identify and understand context and contingencies governing pupil/student behaviour 2. The skill to develop effective positive classroom management procedures 3. The knowledge of how to carry out a functional behaviour assessment 4. The knowledge of how to develop and implement successful individual behaviour change procedures 5. Being able to critically analyse and apply creative thinking to problems 6. Effective written communication skills

Behaviour Change in Education and Supervising Others

This module introduces students to the application of behaviour analysis for effective teaching. The focus of the module is on how to identify and understand the contingencies that govern pupil behaviour using the science of behaviour analysis to aid teaching practices. August 2021 18 Antecedent- and reinforcement-based procedures are suggested over more aversive approaches (e.g., time-out, referrals) for managing disciplinary problems and enhancing learning outcomes for all students. Specific behaviour analytic teaching methods and strategies to improve student learning will be described in detail. This module also focuses on personnel supervision and management – a key topic for those in applied settings who have responsibilities for other staff. Five of the weeks will be dedicated to the area of supervision and students will learn how to establish culturally responsive supervisory relationships, apply evidence-based performance management procedures, and address barriers to supervision. This module is part of the Association for Behavior Analysis International (ABAI) Verified Course Sequence offered at Queen’s University Belfast. Its contents are based on the BCBA 6th Edition Test Content Outline. More specifically, this module covers the required 30 hours of “Personnel Supervision and Management” (Domain I). It also covers select items from Domain A – “Behaviorism and Philosophical Foundations”, Domain B – “Concepts and Principles”, Domain D – “Experimental Design”, and Domain G – “Behavior-Change Procedures”.

Students who complete this module will gain an understanding of the history and philosophical foundations of the scientific discipline of behaviour analysis. They will learn how contingencies govern pupil behaviour and how to arrange the educational environment in order to encourage student learning and reduce disciplinary problems. Students will be introduced to specific evidence-based strategies that can be used in the classroom and they will be able to justify the need for such methods in the educational setting. Finally, students will learn how to effectively supervise and manage others within applied settings using a culturally responsive and evidence based approach to supervision.

On successful completion of this module students will have the following subject specific skills: 1. Explain behaviour from the perspective of radical behaviourism 2. Distinguish among behaviourism, the experimental analysis of behaviour, and applied behaviour analysis (ABA) August 2021 19 3. Describe the seven dimensions of ABA and provide examples of each 4. Define teaching using behavioural terms 5. Identify the key features of the behavioural approach to education 6. Use contingency-based and rule-governed behaviours in the classroom 7. Describe and use various instructional programs and teaching strategies based on the science of behaviour analysis 8. Use Skinner's analysis to teach verbal behaviour 9. Explain the importance of behaviour analytic supervision 10. Develop a culturally responsive supervisory relationship 11. Effectively train and monitor supervisees using empirically validated performance management procedures 12. Use function-based procedures to improve personnel performance 13. Evaluate the effects of supervision and make data-based decisions They will also have generic, transferable skills such as: 1. Critically analyse and apply creative thinking to problems. 2. Communicate effectively, both in writing and virtually. 3. Work as a member of an interdisciplinary team

Concepts and principles of behaviour analysis

This module develops a theoretical and conceptual understanding of the scientific discipline of behaviour analysis. It provides students with a foundational knowledge of the basic concepts and principles, upon which all behavioural applications are derived. Students who successfully complete this module will be able to describe accurately, and critically evaluate, the basic concepts and key principles underpinning the science of behaviour analysis. This module is part of the Association for Behavior August 2021 13 Analysis International (ABAI) Verified Course Sequence offered at Queen’s University Belfast. Its contents are based on the BCBA 6th Edition Test Content Outline and it covers the required 45 hours of "Concepts and Principles" (Domain B). It also covers select items from Domain A – “Behaviorism and Philosophical Foundations”, Domain G - "Behavior-Change Procedures", and Domain H – “Selecting and Implementing Interventions”.

Students who complete this module will gain a foundational knowledge of the theory and concepts of the scientific discipline of behaviour analysis. They will be able to describe accurately, and critically evaluate, the basic concepts and key principles underpinning the science of behaviour analysis.

On successful completion of this module students will have the following subject specific skills: 1. Define and provide examples of the basic concepts of behaviour analysis (e.g., behaviour, response, response class, stimulus, stimulus class) 2. Identify mentalistic explanations of behaviour and avoid their use 3. Describe the respondent and operant conditioning paradigms 4. Differentiate between automatic and socially-mediated contingencies 5. Differentiate between rule-governed and contingency-shaped behaviours 6. Increase behaviours through positive and negative reinforcement 7. Describe the various schedules of reinforcement, including compound schedules 8. Define and provide examples of unconditioned and conditioned motivating operations, and understand their role in operant contingencies 9. Decrease behaviours using non-punishment procedures (i.e., differential reinforcement, noncontingent reinforcement, extinction) 10. Describe the ethical use of positive and negative punishment procedures 11. Describe stimulus control and stimulus discrimination procedures 12. Differentiate between simple and conditional discriminations 13. Describe equivalence-based instruction and processes that promote generative performance August 2021 14 14. Plan for the generalisation and maintenance of behaviour change 15. Define and provide examples of the six verbal operants and listener discriminations 16. Understand the role of multiple control in verbal behaviour They will also have generic, transferable skills such as: 1. Critically analyse and apply creative thinking to problems. 2. Communicate effectively, both in writing and virtually. 3. Work as a member of an interdisciplinary team.

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Introduction.

Graduates from this Master's degree have found it beneficial in their workplace when advising colleagues, influencing policy makers and supporting pupils and students with autism and their families, or seeking professional promotion or diversification. Others progress to doctoral-level studies and research or teaching. Queen's postgraduates reap exceptional benefits. Unique initiatives, such as Degree Plus and Researcher Plus bolster our commitment to employability, while innovative leadership and executive programmes help our students gain key leadership positions both nationally and internationally.

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“We are very fortunate to have such high calibre and expert MSc ASD students available to us, who can contribute enormously to improving the play, learning and social experience of our children with autism.” Joan Henderson, Sólás Educational Charity

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From the CDC: Understanding Autism Spectrum Disorder

Deborah christensen.

Centers for Disease Control and Prevention, Atlanta

Jennifer Zubler

Eagle Global Scientific, San Antonio, TX

Autism spectrum disorder (ASD) is a condition characterized by impaired social communication as well as restricted and repetitive behaviors. It is considered a neurodevelopmental disorder because it is associated with neurologic changes that may begin in prenatal or early postnatal life, alters the typical pattern of child development, and produces chronic signs and symptoms that usually manifest in early childhood and have potential long-term consequences. In past decades, autism was conceptualized as a strictly defined set of behaviors, usually accompanied by intellectual impairment. Today, it is recognized as a spectrum, ranging from mild to severe, in which behaviors vary substantially and the majority of children who fall on the spectrum have average to above average intellectual ability. Here, the authors discuss the risk factors for ASD, its epidemiology, common concurrent conditions, evaluation, diagnosis, treatments, and outcomes.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that typically manifests in early childhood as impaired social communication and restricted, repetitive behaviors and falls on a spectrum ranging from mild to severe. 1 For example, some people with ASD are nonverbal or speak only in simple sentences, while others are verbally skilled but have problems with social communication and pragmatic language, such that they respond inappropriately in conversation, misunderstand nonverbal communication, or lack age-appropriate competency to establish friendships. People with ASD may have difficulty adapting to changes in their routine or environment. Their interests, which are typically intense, may be limited. Some display stereotyped, repetitive motor movements or unusual sensory responses. Current diagnostic criteria for ASD can be found in the Diagnostic and Statistical Manual of Mental Disorders , fifth edition. 1

RISK FACTORS

ASD etiology is not completely understood, but multiple factors likely contribute to ASD development. 2 Neurologic changes that result in ASD may begin in prenatal and early postnatal life, 3 and genetic factors (both rare and common variants) are a source of population variation in ASD-related behaviors. 4 , 5

Sibling recurrence risk.

Studies have reported that roughly 15% to 20% of younger siblings of children with ASD meet the diagnostic criteria for ASD themselves. 6 , 7 Concordance is higher among monozygotic compared with dizygotic twins. 8 , 9

Other prenatal and perinatal risk factors have been identified, including

  • prenatal exposure to valproic acid 10 or thalidomide, 11 and rubella infection. 12
  • advanced parental age. 13 , 14
  • maternal gestational diabetes and bleeding. 13
  • neonatal complications, including low birth weight and small size for gestational age. 15
  • preterm birth. 16

Although there’s evidence that any of these factors, which can negatively affect prenatal and perinatal health, may increase the risk of ASD, no single prenatal or perinatal factor has been found to have more than a modest association with ASD. 15 Additional reviews and meta-analyses of research on ASD risk factors have been published. 17 – 19 Research into risk factors for ASD is ongoing, including through such case–control studies as the Centers for Disease Control and Prevention (CDC) Study to Explore Early Development (SEED; see www.cdc.gov/ncbddd/autism/seed.html ). Studies have shown that there is no link between receiving vaccines and developing ASD, as is discussed in the evidence-based meta-analysis of case–control and cohort studies by Taylor and colleagues. 20 Additional information on vaccine safety is available from the CDC at www.cdc.gov/vaccinesafety/concerns/autism.html .

EPIDEMIOLOGY

Recent national surveys suggest that 2% to 3% of children ages three through 17 have a current or previous diagnosis of ASD. 21 , 22 A review of data from 2000 through 2014 on eight-year-old children in selected U.S. communities by the CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network showed that ASD prevalence estimates rose more than 150% over this period, from 6.7 per 1,000 in 2000 to 16.8 per 1,000 in 2014. 23

Sex differences.

CDC data show that ASD prevalence is four times greater in boys than in girls. 23 Higher prevalence among boys may be related to differences in biological susceptibility to ASD 24 or to less frequent or incomplete identification of ASD in girls because girls with ASD have less well-recognized symptom profiles or higher intellectual ability, better language skills, and perceived better social skills. 25

Racial/ethnic differences.

Historically, CDC surveillance reports had estimated higher ASD prevalence among white children compared with both Black and Hispanic children, possibly because of a failure to identify ASD among children across all racial and ethnic groups. Although ASD prevalence estimates continue to be higher among white than among Black and Hispanic children, the disparity has narrowed in recent years, possibly as a result of more effective outreach directed at racial and ethnic minority communities and improved access to diagnostic services. 23 , 26

Other contributing factors to the recent rise in estimated ASD prevalence include

  • changes in ASD diagnostic criteria, clinical practices for identifying and diagnosing children with developmental delays, and reporting practices. 27 – 30
  • improved access to ASD services through better insurance coverage. 30 – 32
  • the inclusion of children with high intellectual ability and few or mild ASD symptoms. 26 , 28

The heterogeneity of ASD prevalence estimates across geographic areas 26 further supports the premise that regional differences in evaluation, diagnosis, clinical and reporting practices, and service access may affect calculated prevalence.

Prevalence trends by state.

The CDC has recently introduced an Autism Data Visualization Tool (see www.cdc.gov/ncbddd/autism/data ), which provides information about trends in ASD prevalence by state.

ASD in adults.

The CDC does not collect prevalence data on ASD in adults; however a population-based survey of adults in the United Kingdom (UK) estimated that approximately 1% met the study criteria for ASD, though most had never been formally diagnosed. 33 A follow-up analysis of these data combined with data collected from participants in the Intellectual Disability Case Register study found a similar combined prevalence rate (1.1%) among adults. 34 While ASD is usually diagnosed in childhood, some people first seek diagnosis in adulthood. Another UK study reported on 255 adults referred to the Autism Diagnostic Research Centre for neuropsychological assessment, 100 of whom were subsequently diagnosed with ASD. 35 Only four of these had a learning disability, as identified through the education system or a recent diagnosis (intelligence quotient [IQ] below 70). It’s not clear why those found to have ASD were not diagnosed earlier in life, but the researchers suggest that comorbid psychiatric diagnoses, which affected 58%, may have been factors, as psychiatric conditions such as anxiety and depression may have concealed ASD traits, delaying appropriate referral.

COMMON CONCURRENT CONDITIONS

Although the proportion of children identified with ASD and concurrent intellectual disability has declined over time, 26 suggesting improved identification of ASD in children with a high level of intellectual ability, a substantial proportion of people with ASD have concurrent intellectual disability. The most recent CDC data indicate that nearly one-third of eight-year-old children with ASD had an IQ within the range of intellectual disability (70 or below). 23

Other conditions that commonly occur with ASD include the following 36 :

  • motor abnormalities, up to 79%
  • attention deficit–hyperactivity disorder (ADHD), 28% to 44%
  • gastrointestinal problems, 9% to 70%
  • sleep problems, 50% to 80%
  • aggressive behavior up to 68%
  • anxiety, 42% to 56%
  • depression, 12% to 70%

Associated pediatric conditions may include language delay, which occurs in up to 87% of three-year-olds with ASD, 37 or language regression (for example, children’s loss of their first few words or the development of severely impaired receptive–expressive language). 38 The risk of children with ASD developing epilepsy is greatest before the age of five and around the time of puberty and is greater in children with concurrent intellectual disability. 38

Neuropsychological and medical conditions, like the core features of ASD, may interfere with health, functioning, and relationships with family members and peers. The complex health care needs of people with ASD are best addressed through the medical home model of care, which is defined by the American Academy of Pediatrics (AAP; see https://medicalhomeinfo.aap.org/overview/Pages/Whatisthemedicalhome.aspx ). It is important to consider the person’s ASD and concurrent symptoms when conducting the history and physical evaluation, weighing treatment plans, and coordinating referrals for medical evaluation and care. 39

Risky behavioral issues.

In addition to associated medical conditions, people with ASD, particularly those with intellectual disability, may display risky behaviors such as self-injury (up to 50%) 36 and wandering, which has been reported by parents to occur in 37.7% of children who have both ASD and intellectual disability and 32.7% of children who have ASD without intellectual disability. 40 These behaviors may pose safety risks and generate considerable stress for both people with ASD and their families. The CDC provides safety information and resources on these and other potential dangers facing children with special needs at www.cdc.gov/ncbddd/disabilityandsafety/index.html . Families may also find toolkits from Autism Speaks to help them address challenging behaviors at www.autismspeaks.org/family-services/tool-kits/challenging-behaviors-tool-kit .

Nurses can help facilitate the coordination of treatment and safety approaches to challenging behaviors across home and community settings, including schools. Children with disabilities, including ASD, may be at increased risk for maltreatment, including neglect and physical abuse due to caregiver stress. Nurses should be prepared to recognize the signs of maltreatment and intervene when necessary. The Child Welfare Information Gateway, a service of the Children’s Bureau of the Administration for Children and Families at the U.S. Department of Health and Human Services (HHS), provides several resources for health care professionals on child maltreatment at www.childwelfare.gov/topics/preventing/developing/collaboration/professionals .

EVALUATION AND DIAGNOSIS

Diagnosing ASD can be challenging. To date, there is no biomarker or medical test that can distinguish those with ASD from those without.

To make a diagnosis, health care professionals rely on

  • developmental history.
  • parent, caregiver or self-reported responses to questions about ASD-related behaviors.
  • direct observations of behavior.

Concerns initially reported by parents or caregivers of children with ASD often include

  • language delays or unusual language usage.
  • atypical social responses, such as difficulty initiating and sustaining interactions with other children or not responding to their name being called.
  • repetitive behaviors, such as resistance to change.
  • emotional and behavioral reactivity.

High-risk infants.

Data suggest that in high-risk infants (such as those who have an older sibling with ASD), the characteristic signs of ASD, such as social communication difficulties and repetitive behaviors, would usually become apparent between the ages of 18 and 36 months if they too have ASD. 3 However there may be prodromal behaviors that emerge in the first year, including difficulties with emotional regulation, 41 lack of response to bids for attention, inconsistent face gazing, and impaired motor control. 3 These signs may occur before the more easily recognized signs of ASD are apparent and may go unrecognized by parents, caregivers, and health care providers as potential indications of ASD. If, however; parents or caregivers raise concerns about these features with health care providers, it is important that providers take such observations seriously.

Early identification.

Efforts by public, pediatric, and other health organizations have focused on identifying children with ASD as early as possible to facilitate prompt treatment and behavioral intervention. CDC data have indicated that, for nearly all children with ASD, developmental concerns were documented by age 36 months, though there has been little progress in lowering the age of first ASD evaluation. 23 In some cases, ASD can reliably be diagnosed by age two, 37 though the stability of early diagnoses depends on the experience of the diagnosing clinician. Because children with ASD display both typical and atypical behaviors, an average health visit may not allow enough time to observe a child’s atypical behavior 42

Recommendations of the AAP.

To address the complexity of identifying ASD at an early age, the AAP recommends that all children receive ASD-specific screening with a standardized ASD screening test at ages 18 months and 24 months, or whenever concerns arise, and that developmental surveillance occur at each health visit. 39

Developmental surveillance, a flexible, ongoing process of assessment that continues as the child grows, involves the following steps 39 :

  • asking parents or caregivers about concerns they may have regarding their child’s development, and listening and responding to these concerns
  • obtaining and documenting the child’s developmental history
  • noting findings based on informed observation of the child
  • identifying potential risks, strengths, and supportive factors in the child’s medical and life history
  • maintaining an accurate record of the surveillance and screening activities
  • seeking input from and sharing observations and opinions with other health care professionals and educators outside the medical home (for example, with specialty providers or preschool teachers), with the consent of the patient or caregiver

Several online resources are available to assist health care providers in conducting developmental surveillance and to help parents of children in their practice track their child’s developmental milestones (see Developmental Surveillance Resources ).

Developmental Surveillance Resources

  • Developmental Surveillance: What, Why and How, a video for health care providers from the American Academy of Pediatrics (AAP), available at: www.youtube.com/watch?v=sceYLUHhgnU&feature=youtu.be
  • Milestone Tracker, a free app from the Centers for Disease Control and Prevention (CDC) that helps parents identify their children’s developmental milestones and provide support at every stage: www.cdc.gov/MilestoneTracker
  • “Learn the Signs. Act Early” materials from the CDC, which include checklists and videos that can assist providers with developmental surveillance by encouraging parents to monitor their child’s development between health care visits and discuss any concerns: www.cdc.gov/ncbddd/actearly/milestones/index.html
  • Autism Diagnosis Criteria: DSM-5 from Autism Speaks, available at: www.autismspeaks.org/autism-diagnosis-criteria-dsm-5
  • Identifying and Caring for Children with Autism Spectrum Disorder: A Course for Pediatric Clinicians from the AAP, available at: https://shop.aap.org/identifying-and-caring-for-children-with-autism-spectrum-disorder-a-course-for-pediatric-clinicians

Nurses often play a critical role in surveillance, coordination, and championing the efforts of the health care team through the following actions:

  • taking the developmental history
  • eliciting parents’ concerns
  • sharing observations of the child with the primary care provider
  • distributing and scoring age-appropriate screens
  • informing the primary care provider of screening results for discussion with the family
  • submitting and following up on ordered referrals
  • recognizing a pattern of early childhood development consistent with ASD in older children and adults, whose difficulty in developing and maintaining friendships, communicating, and understanding what behaviors are expected in school or on the job may suggest undiagnosed ASD
  • identifying concurrent conditions that often affect people with ASD
  • referring parents of children with ASD, or adults with ASD that was undiagnosed in childhood, to services and specialists

Early intervention and special education.

If ASD risk is indicated on a validated screening tool, or if the provider or parent is concerned the child might have ASD despite normal screening results, the child should be referred promptly for further developmental and medical evaluation as the screening tool may have produced a false negative or the child may have other developmental delays that should be addressed. 43 Children under age three can be referred to the state’s early intervention program (see www.cdc.gov/ncbddd/actearly/parents/states.html for information on early intervention). Patients ages three through 21 can, through the Individuals with Disabilities Education Act (IDEA), receive evaluations and services through their local school district’s special education program. Referral for further developmental evaluation, audiological testing, and assessment for early intervention or special education services can all occur simultaneously. Developmental evaluations may be completed by developmental and behavioral pediatricians, child neurologists, child psychologists, and child psychiatrists.

Currently, there is no curative treatment for ASD, but interventions may reduce troubling symptoms, improving cognition and function, thereby maximizing the ability of people with ASD to participate in the community. Treatment plans are usually multidisciplinary and tailored to the person’s unique strengths and challenges. Some interventions are parent mediated. Behavioral intervention strategies often include social skills training for children and adults and focus on reducing restricted interests and repetitive or challenging behaviors. Occupational, speech, and sensory integration therapy may also be helpful.

For providers who are inexperienced in treating patients with ASD, especially adult patients, it’s important to consider the patient’s ASD diagnosis as one of many variables that affect an individual and to learn how to adapt treatment to accommodate the patient’s strengths, challenges, and differences. 44

ADHD medications.

Although no medications have proven effective in treating the core symptoms of ASD, some may be helpful in reducing concurrent conditions. Medications used to treat ADHD, including methylphenidate (Ritalin and others), atomoxetine (Strattera), and guanfacine (Intuniv), have shown benefit in treating children who have ASD and concurrent ADHD, though they may be less effective and have more adverse effects in these children than in those with ADHD alone. 45 – 47

Two atypical antipsychotic medications, risperidone (Risperdal) and aripiprazole (Abilify), have been shown in randomized controlled trials to reduce irritability or agitation in children and adolescents with ASD, but patients taking these drugs should be monitored for adverse effects, including weight gain and sedation. 48 , 49

Individualized education programs (IEPs).

Children with ASD often have an IEP or a 504 plan through which they may receive behavioral, speech, or occupational therapy, and other services in the school setting. For information about IEPs, visit the IDEA website at https://sites.ed.gov/idea (go to Resources, then Topic Areas). Children with ASD may be taught in a self-contained or general education classroom, be placed in an inclusion classroom that combines elements of both, or spend part of the school day in a general education classroom and part in a self-contained or inclusion classroom.

School nurses may play a role in a child’s treatment plan. For example, they may need to administer medication or assess health problems. School nurses should be aware that children with ASD who experience health problems may have difficulty reporting symptoms of illness or maltreatment and may be challenged by changes in routine such as visiting the nurse’s office, undergoing physical examination, and interacting with unfamiliar staff.

Support for parents.

Providers can direct parents of children with ASD to their state’s free parent support organization, which can be found on the website of Family Voices, a national organization and grassroots network of families of children with special health care needs (see http://familyvoices.org/affiliates ). These state- or territory-based organizations link parents with local resources as well as other parents of children with special needs or developmental disabilities who reside in their community. Families may seek out complementary and alternative therapies and should be encouraged to share and discuss these with their child’s provider.

OUTCOMES IN ADOLESCENCE AND ADULTHOOD

Relatively little is known about how ASD affects outcomes in adulthood, such as level of independence, education, employment, social relationships, community integration, and health status. While for some with ASD, symptom severity decreases over time, 50 studies suggest that outcomes are often poor, especially in the domain of social functioning. 51 A 2012 analysis of data from a nationally representative survey of young adults with ASD, as well as parents and guardians, found that the overall rate of paid employment following high school among young adults with ASD was 55.1%. 52

Poorer health and shorter life spans.

There is evidence that adults with ASD have poorer health and shorter life spans than adults without ASD. 53 A medical record review conducted at a large northern California health care system reported that adults with recent ASD diagnoses had higher frequencies of seizures, hypertension, dyslipidemia, sleep disorders, and psychiatric conditions than sex-and age-matched controls. 54 Another study conducted in the same health care system reported that while utilization of health care services was higher for adults with ASD compared with adults with ADHD and adults with neither condition, women with ASD were less likely to receive gynecologic care and be screened for cervical cancer. 55 Premature mortality among adults with ASD is associated with a variety of medical conditions, including epilepsy, particularly in those with concurrent intellectual disability. 53 , 56 Substantially higher mortality from suicide has been found in people with ASD, especially women and those without concurrent intellectual disability. 53 , 57

Adolescent transition to adult medical care.

Pediatric nurses can help adolescents with ASD prepare for the transition to adult medical care. Adult primary care nurses should be aware of the increasing numbers of people diagnosed with ASD as children who are coming into adult medical care, in addition to those who were diagnosed in adulthood, both of whom will require assistance with medical management and referrals, as well as anticipatory guidance regarding health conditions. Got Transition ( www.gottransition.org ) provides toolkits and other resources for adolescents, young adults, parents, caregivers, and health care providers helping families with this transition.

BEYOND PATIENT CARE: NECESSARY NURSING RESEARCH

ASD is more commonly diagnosed today than it was in the past. In addition to teaching parents and caregivers about developmental milestones, conducting surveillance and screening, assisting with referrals, advocating for appropriate diagnoses, monitoring the effectiveness of treatment plans, and helping families navigate the complex systems of services and resources available for people with ASD, nurses should realize that there is a pressing need for research into interventions and services that can help support people with ASD in securing postsecondary education or training, participating in the workforce, obtaining housing, accessing transportation, and managing their health. A broad range of topics related to ASD outcomes and other issues relevant to primary care are covered in a recent HHS report to Congress, available at www.hhs.gov/sites/default/files/2017AutismReport.pdf .

The authors and planners have disclosed no potential conflicts of interest, financial or otherwise.

For three additional continuing nursing education activities on the topic of autism, go to www.nursingcenter.com .

Contributor Information

Deborah Christensen, Centers for Disease Control and Prevention, Atlanta.

Jennifer Zubler, Eagle Global Scientific, San Antonio, TX.

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    The Stanford Autism and Developmental Disorders Research Program would like to thank the children, as well as their parents and families, for contributing to research. ... 11/14/2013: Stanford drug trial seeks participants with autism spectrum disorder. 8/13/2012: Stanford researchers investigate the emotional side of autism. 5/29/2012: ...

  12. Autism spectrum disorder

    Autism spectrum disorder (ASD) refers to any one of a group of disorders with an onset typically occurring during the preschool years and characterized by varying but often marked difficulties in communication and social interaction. ... Topics in Psychology. Explore how scientific research by psychologists can inform our professional lives ...

  13. Autism Spectrum Disorder Articles

    Key findings, feature articles, and scientific articles about autism spectrum disorder (ASD). ... Related Topics: 2023 Community Report on Autism | Autism ... Esler A, et al. Autism Res. 2020;13(3):464-473. SEED Research. Researchers working on CDC's Study to Explore Early Development (SEED) have published many studies reporting on important ...

  14. Autism News

    20% Increased ASD Risk for Kids with Autistic Siblings. New research indicates that 20% of children with an older sibling diagnosed with autism are also likely to be diagnosed with autism spectrum disorder (ASD), with this rate increasing to 36% when there are multiple siblings with ASD.

  15. Research topics: Autism

    Autism spectrum disorder (ASD) and autism are both general terms for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. Research in the Department of Educational Psychology focuses on early ...

  16. Autism News and Editorials

    Motor Skills and Executive Function in Autism. Megan MacDonald, Ph.D., and Megan McClelland, Ph.D., discuss emerging research on the. 1 2 Next. Check out the latest articles on autism research and news updates and editorials from the autism research institute.

  17. Autism Spectrum Disorder

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

  18. Autism spectrum disorder research: knowledge mapping of progress and

    Introduction. Autism spectrum disorder (ASD) refers to a group of early-onset, lifelong, heterogeneous neurodevelopmental conditions with complex mechanisms of emergence ().The prevalence of ASD has increased from 1 in 69 by 2012 to 1 in 44 by 2018, as reported by the Centers for Disease Control and Prevention for 2012-2018 (2, 3).Recent research estimates the male-to-female ratio is closer ...

  19. Trends and topics in autism spectrum disorders research

    Abstract. The field of autism spectrum disorders (ASDs) is expanding at an exponential rate. New topics for study are forming and journals are emerging rapidly to handle the ever-increasing volume of publications. This study was undertaken to provide an overview of past and current research trends. Representative studies were evaluated for type ...

  20. Autism spectrum disorder

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

  21. How patterns of conversation could help identify early signs of autism

    Put simply, creativity is not impeded in autism spectrum disorder, but what is more difficult for autistic people is the ability to be creative with the words of others during a conversation.

  22. Autism

    Autism. Autism and autism spectrum disorder are terms for a group of disorders caused by problems with early-life brain development. Individuals with one of these conditions may have difficulty communicating or interacting socially. They may also have unusual patterns of behavior, interests, and activities. Until recently, experts identified ...

  23. [2409.06163] MCDGLN: Masked Connection-based Dynamic Graph Learning

    Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by complex physiological processes. Previous research has predominantly focused on static cerebral interactions, often neglecting the brain's dynamic nature and the challenges posed by network noise. To address these gaps, we introduce the Masked Connection-based Dynamic Graph Learning Network (MCDGLN). Our approach ...

  24. Future Directions for Research in Autism Spectrum Disorders

    Abstract. This article suggests future directions for research aimed at improved understanding of the etiology and pathophysiology of autism spectrum disorder (ASD) as well as pharmacologic and psychosocial interventions for ASD across the lifespan. The past few years have witnessed unprecedented transformations in the understanding of ASD ...

  25. Trauma diagnoses during emergency psychiatric evaluation among youth

    Increased risk of acute stress disorder and post-traumatic stress disorder in children and adolescents with autism spectrum disorder: A nation-wide cohort study in Taiwan. Frontiers in Psychiatry , 15, Article 1329836.

  26. Autism Spectrum Disorders

    Over 83% of research submitted by colleagues based in the Education Unit of Assessment was judged to be 'World Leading' or 'Internationally Excellent' by a peer review panel (REF2021). ... It provides a basic framework about the key principles and concepts associated with Autism Spectrum Disorders as well as Applied Behaviour Analysis ...

  27. A descriptive study of young people with Autism Spectrum Disorder

    It examines the demographic features, clinical comorbidities and threat profile of this cohort and compares cases with and without a diagnosis of Autism Spectrum Disorder (ASD). The findings suggest that young people with ASD are significantly overrepresented, compared to the population rate, with late diagnosis and complex, unmet needs.

  28. From the CDC: Understanding Autism Spectrum Disorder

    Autism spectrum disorder (ASD) is a condition characterized by impaired social communication as well as restricted and repetitive behaviors. It is considered a neurodevelopmental disorder because it is associated with neurologic changes that may begin in prenatal or early postnatal life, alters the typical pattern of child development, and produces chronic signs and symptoms that usually ...

  29. Exploring Autism Gender Disparities: Research Paper Guidelines

    The advancement of autism prevention or therapy is the significance of this research. 3. An immense amount of research findings B. Applied literature— Repeat for each study 1. Males are diagnosed with autism spectrum disorder (ASD) at a greater incidence than females, which is one of the most consistent findings in ASD research. 2.

  30. Understanding Autism Spectrum Disorder: Symptoms, Causes, and

    2 Autism Spectrum Disorder Blog for Parents and Family Members Autism is a complicated neurodevelopmental disorder that affects how people interact with the outside environment and other people. It is also known as Autism Spectrum Disorder (ASD). It is called a spectrum because it encompasses a broad variety of behaviors, difficulties, and abilities.