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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.
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.
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
Causes and related factors
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
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.
Treatments and therapies
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:
- Repetitive behavior
- 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
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.
Join a study
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
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.
- 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 2023
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Autism Spectrum Disorder
The National Institute of Mental Health (NIMH) , a component of the National Institutes of Health ( NIH ), is a leading federal funder of research on ASD .
What is autism spectrum disorder?
Autism spectrum disorder (ASD) refers to a group of complex neurodevelopment disorders caused by differences in the brain that affect communication and behavior. According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5)—a guide created by the American Psychiatric Association used to diagnose health conditions involving changes in emotion, thinking, or behavior (or a combination of these)—people with ASD can experience:
- Challenges or differences in communication and interaction with other people
- Restricted interests and repetitive behaviors
- Symptoms that may impact the person's ability to function in school, work, and other areas of life
ASD can be diagnosed at any age but symptoms generally appear in early childhood (often within the first two years of life). Doctors diagnose ASD by looking at a person's behavior and development. The American Academy of Pediatrics recommends that all children get screened for developmental delays and behaviors often associated with ASD at their 18- and 24-month exams.
The term “spectrum” refers to the wide range of symptoms, skills, and levels of ability in functioning that can occur in people with ASD. ASD affects every person differently; some may have only a few symptoms and signs while others have many. Some children and adults with ASD are fully able to perform all activities of daily living and may have gifted learning and cognitive abilities while others require substantial support to perform basic activities. A diagnosis of ASD includes Asperger syndrome, autistic disorder, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified that were once diagnosed as separate disorders.
In addition to differences or challenges with behavior and difficulty communicating and interacting with others, early signs of ASD may include, but are not limited to:
- Avoiding direct eye contact
- Delayed speech and language skills
- Challenges with nonverbal cues such as gestures or body language
- Showing limited interest in other children or caretakers
- Experiencing stress when routines change
Scientists believe that both genetics and environment likely play a role in ASD. ASD occurs in every racial and ethnic group, and across all socioeconomic levels. Males are significantly more likely to develop ASD than females.
People with ASD also have an increased risk of having epilepsy. Children whose language skills regress early in life—before age 3—appear to have a risk of developing epilepsy or seizure-like brain activity. About 20 to 30 percent of children with ASD develop epilepsy by the time they reach adulthood.
Currently, there is no cure for ASD. Symptoms of ASD can last through a person's lifetime, and some may improve with age, treatment, and services. Therapies and educational/behavioral interventions are designed to remedy specific symptoms and can substantially improve those symptoms. While currently approved medications cannot cure ASD or even treat its main symptoms, there are some that can help with related symptoms such as anxiety, depression, and obsessive-compulsive disorder. Medications are available to treat seizures, severe behavioral problems, and impulsivity and hyperactivity.
How can I or my loved one help improve care for people with autism spectrum disorder?
Consider participating in a clinical trial so clinicians and scientists can learn more about ASD and related conditions. Clinical trials are studies that use human volunteers to look for new or better ways to diagnose, treat, or cure diseases and conditions.
All types of volunteers are needed—people with ASD, at-risk individuals, and healthy volunteers—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You . Learn about clinical trials currently looking for people with ASD at Clinicaltrials.gov .
Where can I find more information about autism spectrum disorder? The following resources offer information about ASD and current research: American Academy of Pediatrics Centers for Disease Control and Prevention (CDC) Eunice Kennedy Shriver National Institute of Child Health and Human Development Interagency Autism Coordinating Committee (IACC) National Center for Advancing Translational Sciences National Institute on Deafness and Other Communication Disorders National Institute of Environmental Health Sciences Additional organizations offer information, research news, and other resources about ASD for individuals and caregivers, such as support groups. These organizations include: Association for Science in Autism Treatment Autism National Committee (AUTCOM) Autism Network International (ANI) Autism Research Institute (ARI) Autism Science Foundation Autism Society Autism Speaks, Inc.
New Data on Autism
Click on the following links to learn more about CDC’s data on Autism Spectrum Disorder (ASD).
Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020
Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020
PowerPoint slides that can be used to present CDC’s latest data from the ADDM Network [PPTX, 5.36MB]
A highlight of the most recent scientific findings on ASD.
Higher Autism Prevalence and COVID-19 Disruptions
Informe Comunitario del 2023 sobre el Autismo
An easy-to-read summary of the latest autism data
CDC autism report finds higher prevalence; shifting demographics
Track your child’s development and act early if you have a concern
Videos with asl interpretation, one minute autism update and the role healthcare providers can play, one minute autism update and information for parents and caregivers.
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Conceptual analysis article, research, clinical, and sociological aspects of autism.
- ESPA Research, Unit 133i Business Innovation Centre, The Robert Luff Laboratory, Education & Services for People With Autism Research, Sunderland, United Kingdom
The concept of autism continues to evolve. Not only have the central diagnostic criteria that define autism evolved but understanding of the label and how autism is viewed in research, clinical and sociological terms has also changed. Several key issues have emerged in relation to research, clinical and sociological aspects of autism. Shifts in research focus to encompass the massive heterogeneity covered under the label and appreciation that autism rarely exists in a diagnostic vacuum have brought about new questions and challenges. Diagnostic changes, increasing moves towards early diagnosis and intervention, and a greater appreciation of autism in girls and women and into adulthood and old age have similarly impacted on autism in the clinic. Discussions about autism in socio-political terms have also increased, as exemplified by the rise of ideas such as neurodiversity and an increasingly vocal dialogue with those diagnosed on the autism spectrum. Such changes are to be welcomed, but at the same time bring with them new challenges. Those changes also offer an insight into what might be further to come for the label of autism.
Although there is still debate in some quarters about who first formally defined autism ( 1 ), most people accept that Kanner ( 2 ) should be credited as offering the first recognised description of the condition in the peer-reviewed scientific literature. The core diagnostic features covering issues in areas of social and communicative interaction alongside the presence of restricted and/or repetitive patterns of behaviour ( 3 ) described in his small caseload still remain central parts of the diagnosis today. The core issue of alterations in social cognition affecting emotion recognition and social attention ( 4 ) remain integral to the diagnosis of autism. The additional requirement for such behaviours to significantly impact on various areas of day-to-day functioning completes the diagnostic criteria.
From defining a relatively small group of people, the evolution of the diagnostic criteria for autism has gone hand-in-hand with a corresponding increase in the numbers of people being diagnosed. Prevalence figures that referred to 4.5 per 10,000 ( 5 ) in the 1960s have been replaced by newer estimates suggesting that 1 in 59 children (16 per 1,000) present with an autism spectrum disorder (ASD) in 2014 ( 6 ). The widening of the definition of autism has undoubtedly contributed to the significant increase in the numbers of people being diagnosed. It would be unacceptably speculative however, to define diagnostic changes as being the sole cause of the perceived prevalence increases.
Alongside the growth in numbers of people being diagnosed with autism so there have been changes in other areas related to autism; specifically those related to the research, clinical practice and sociological aspects of autism. Many of the changes have centred on key issues around the acceptance that autism is an extremely heterogeneous condition both in terms of presentation and also in relation to the genetic and biological complexity underlying its existence. That autism rarely exists in some sort of diagnostic vacuum is another part of the changes witnessed over the decades following the description of autism.
In this paper we highlight some of the more widely discussed changes in areas of research, clinical practice and sociological terms in relation to autism. We speculate on how such changes might also further develop the concept of autism in years to come.
As the definition of autism has subtly changed over the years, so ideas and trends in autism research have waxed and waned. The focus on psychology and behaviour as core descriptive features of autism has, in many respects, guided research and clinical views and opinions about the condition. Social cognition, including areas as diverse as social motivation, emotion recognition, social attention and social learning ( 4 ), remains a mainstay of research in this area. The rise of psychoanalysis and related ideas such as attachment theory in the early 20th century for example, played a huge role in the now discredited ideas that maternal bonding or cold parenting were a cause of autism. The seemingly implicit need for psychology to formulate theories has also no doubt played a role in perpetuating all-manner of different grand and unifying reasons on why autism comes about and the core nature of the condition.
As time moved on and science witnessed the rise of psychiatric genetics, where subtle changes to the genetic code were correlated with specific behavioural and psychiatric labels, so autism science also moved in the same direction. Scientific progress allowing the genetic code to be more easily and more cost-effectively read opened up a whole new scientific world in relation to autism and various other labels. It was within this area of genetic science that some particularly important discoveries were made: (a) for the vast majority of people, autism is not a single gene “disorder,” and (b) genetic polymorphisms whilst important, are not the only mechanism that can affect gene expression. Mirroring the role of genetics in other behavioural and psychiatric conditions ( 7 ), the picture that is emerging suggests that yes, there are genetic underpinnings to autism, but identifying such label-specific genetic issues is complicated and indeed, wide-ranging.
What such genetic studies also served to prove is that autism is heterogeneous. They complemented the wide-ranging behavioural profiles that are included under the diagnostic heading of autism. Profiles that ranged from those who are profoundly autistic and who require almost constant attention to meet their daily needs, to those who have jobs, families and are able to navigate the world [seemingly] with little or minimal support for much of the time.
It is this heterogeneity that is perhaps at the core of where autism is now from several different perspectives. A heterogeneity that not only relates to the presentation of the core traits of autism but also to how autism rarely manifests in a diagnostic vacuum ( 8 ). Several authors have talked about autism as part of a wider clinical picture ( 9 , 10 ) and how various behavioural/psychiatric/somatic issues seem to follow the diagnosis. Again, such a shift mirrors what is happening in other areas of science, such as the establishment of the Research Domain Criteria (RDoC) project ( 11 ). RDoC recognised that defining behavioural and psychiatric conditions on the basis of presented signs and symptoms does not necessarily “reflect” the relevant underlying processes and systems that might be important. It recognised that in order to deliver important clinical information about how and why a condition manifests, or the best strategies to intervene, research cannot just singularly start with the label. Science and clinical practice need more information rather than just a blanket descriptive label such as autism.
To talk about autism as a condition that also manifests various over-represented comorbid labels also asks a fundamental question: is the word “comorbidity” entirely accurate when referring to such labels? ( 12 ). Does such comorbidity instead represent something more fundamental to at least some presentations of autism or is it something that should be seen more transiently? Numerous conditions have been detailed to co-occur alongside autism. These include various behavioural and psychiatric diagnoses such as depression, anxiety and attention-deficit hyperactivity disorder (ADHD) ( 13 ). Other more somatic based conditions such as epilepsy ( 14 ), sleep ( 15 ) and various facets of gastrointestinal (GI) functioning ( 16 ) have also been discussed in the peer-reviewed science literature. Some of these co-occurring conditions have been described in the context of specific genetic conditions manifesting autism. Issues with the BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) gene for example, have been discussed in the context of autism, intellectual (learning) disability and epilepsy appearing together ( 17 ). Such a diagnostic combination is not unusual; autism often being described as the primary diagnosis with epilepsy and learning disability seen as “add-ons.” But should this be the case? Other evidence pointing to the possibility that epilepsy might under some circumstances beget autism ( 18 ) suggests that under some circumstances, such co-occurring conditions are so much more than just co-occurring or comorbid.
Other evidence for questioning the label “comorbid” comes from various animal models of autism. Accepting that one has to be particularly careful about extrapolating from animal models of autism to the more complex presentation of autism in humans ( 19 ), various models have suggested that autism may for some, fundamentally coexist with GI or bowel issues ( 20 , 21 ). Such observations have been noted across different animal models and cover important issues such as gut motility for example, that have been talked about in the context of autism ( 22 ).
Similarly, when one talks about the behavioural and psychiatric comorbidity in the context of autism, an analogous question arises about whether comorbidity is the right term. Anxiety and depression represent important research topics in the context of autism. Both issues have long been talked about in the context of autism ( 1 , 13 , 23 ) but only in recent years have their respective “links” to autism been more closely scrutinised.
Depression covers various different types of clinical presentations. Some research has suggested that in the context of autism, depressive illnesses such as bipolar disorder can present atypically ( 24 ). Combined with other study ( 25 ) suggesting that interventions targeting depressive symptoms might also impact on core autistic features, the possibility that autism and depression or depressive symptoms might be more closely linked than hitherto appreciated arises. Likewise with anxiety in mind, similar conclusions could be drawn from the existing research literature that anxiety may be a more central feature of autism. This on the basis of connections observed between traits of the two conditions ( 26 ) alongside shared features such as an intolerance of uncertainty ( 27 ) exerting an important effect.
A greater appreciation of the heterogeneity of autism and consideration of the myriad of other conditions that seem to be over-represented alongside autism pose serious problems to autism research. The use of “autism pure” where research participants are only included into studies on the basis of not having epilepsy or not possessing a diagnosis of ADHD or related condition pose a serious problem when it comes to the generalisation of research results to the wider population. Indeed, with the vast heterogeneity that encompasses autism, one has to question how, in the context of the current blanket diagnosis of autism or ASD, one could ever provide any universal answers about autism.
Autism in the Clinic
As mentioned previously, various subtle shifts in the criteria governing the diagnosis of autism have been witnessed down the years. Such changes have led to increased challenges for clinicians diagnosing autism from several different perspectives. One of the key challenges has come about as a function of the various expansions and contractions of what constitutes autism from a diagnostic point of view. This includes the adoption of autism as a spectrum disorder in more recent diagnostic texts.
The inclusion of Asperger syndrome in the DSM-IV and ICD-10 diagnostic schedules represented an expansion of the diagnostic criteria covering autism. Asperger syndrome defined by Hans Asperger ( 28 ) as autistic features without significant language impairment and with intelligence in the typical range, was included in the text for various different reasons. Allen Frances, one of the architects of the DSM-IV schedule, mentioned the importance of having a “ specific category to cover the substantial group of patients who failed to meet the stringent criteria for autistic disorder, but nonetheless had substantial distress or impairment from their stereotyped interests, eccentric behaviors, and interpersonal problems ” ( 29 ). It is now widely accepted that the inclusion of Asperger syndrome in diagnostic texts led to an increase in the number of autism diagnoses being given.
More recent revisions to the DSM criteria covering autism—DSM-5—included the removal of Asperger syndrome as a discrete diagnosis on the autism spectrum ( 30 ). Instead, a broader categorisation of autism spectrum disorder (ASD) was adopted. The reasons for the removal of Asperger syndrome from DSM-5 are complex. The removal has however generally been positively greeted as a function of on-going debates about whether there are/were important differences between autism and Asperger syndrome to require a distinction ( 31 ) alongside more recent revelations about the actions of Asperger during World War II ( 32 ). Studies comparing DSM-IV (and its smaller revisions) with DSM-5 have also hinted that the diagnostic differences between the schedules may well-impact on the numbers of people in receipt of a diagnosis ( 33 ).
Shifts in the diagnostic text covering autism represent only one challenge to autism in the clinical sense. Other important factors continue to complicate the practice of diagnosing autism. Another important issue is a greater realisation that although the presence of observable autistic features are a necessary requirement for a diagnosis of autism, such features are also apparent in various other clinical labels. Autistic features have been noted in a range of other conditions including schizophrenia ( 34 ), personality disorders ( 35 ) and eating disorders ( 36 ) for examples. Coupled with the increasingly important observation that autism rarely exists in a diagnostic vacuum, the clinical challenges to accurately diagnosing autism multiply as a result.
The additional suggestion of “behavioural profiles” within the autism spectrum adds to the complexity. Terms such as pathological demand avoidance (PDA) coined by Newson and colleagues ( 37 ) have started to enter some diagnostic processes, despite not yet being formally recognised in diagnostic texts. Including various autistic traits alongside features such as “resisting and avoiding the ordinary demands of life” and the “active use of various strategies to resist demands via social manipulation,” debate continues about the nature of PDA and its diagnostic value ( 38 ).
Early diagnosis and intervention for autism have also witnessed some important clinical changes over the years. Driven by an acceptance of the idea that earlier diagnosis means that early intervention can be put in place to “ameliorate” some of the more life-changing effects of autism, there has been a sharp focus on the ways and means of identifying autism early and/or highlighting those most at risk of a diagnosis. It's long been known that there is a heritable aspect to autism, whether in terms of traits or diagnosis ( 39 ). In this respect, preferential screening for autism in younger siblings when an older child has been diagnosed is not an uncommon clinical sentiment ( 40 ). Other work looking at possible “red flags” for autism, whether in behaviour ( 41 ) or in more physiological terms still continue to find popularity in both research and clinical terms.
But still however, autism continues to confound. As of yet, there are only limited reliable red flags to determine or preclude the future presence of autism ( 42 ). Early behavioural interventions for autism have not yet fulfilled the promise they are said to hold ( 43 ) and autism is not seemingly present in the earliest days of development for all ( 44 , 45 ). There is still a way to go.
Autism in a modern clinical sense is also witnessing change in several other quarters. The traditional focus of autism on children, particularly boys, is being replaced by a wider acceptance that (a) autism can and does manifest in girls and women, and (b) children with autism age and mature to become adults with autism. Even the psychological mainstay of autism—issues with social cognition—is undergoing discussion and revision.
On the issue of autism presentation in females, several important themes are becoming more evident. Discussions about whether there may be subtle differences in the presentation of autism in females compared to males are being voiced, pertinent to the idea that there may be one or more specific female phenotypes of autism ( 46 ). Further characterisation has hinted that sex differences in the core domain of repetitive stereotyped behaviours ( 47 ) for example, may be something important when it comes to assessing autism in females.
Allied to the idea of sex differences in autism presentation, is an increasing emphasis on the notion of camouflaging or masking ( 48 ). This masking assumes that there may active or adaptive processes on-going that allow females to hide some of their core autistic features and which potentially contributes to the under-identification of autism. Although some authors have talked about the potentially negative aspects of masking in terms of the use of cognitive resources to “maintain the mask,” one could also view such as adaptation in a more positive light relating to the learning of such a strategy as a coping mechanism. Both the themes of possible sex differences in presentation and masking add to the clinical complexity of reliably assessing for autism.
Insofar as the growing interest in the presentation of autism in adulthood, there are various other clinical considerations. Alongside the idea that the presentation of autism in childhood might not be the same as autism in adulthood ( 49 ), the increasing number of people receiving a diagnosis in adulthood is a worthy reminder that autism is very much a lifelong condition for many, but not necessarily all ( 50 ). The available research literature also highlights how autism in older adults carries some unique issues ( 51 ) some of which will require clinical attention.
Insofar as the issue of social cognition and autism, previous sweeping generalisations about a deficit in empathy for example, embodying all autism are also being questioned. Discussions are beginning debating issues such as how empathy is measured and whether such measurements in the context of autism are as accurate as once believed ( 52 ). Whether too, the concept of social cognition and all the aspects it encompasses is too generalised in its portrayal of autism, including the notion of the “double empathy problem” ( 53 ) where reciprocity and mutual understanding during interaction are not solely down to the person with autism. Rather, they come about because experiences and understanding differ from an autistic and non-autistic point of view. Such discussions are beginning to have a real impact on the way that autism is perceived.
Autism in Sociological Terms
To talk about autism purely through a research or clinical practice lens does not do justice to the existing peer-reviewed literature in its entirety. Where once autism was the sole domain of medical or academic professionals, so now there is a growing appreciation of autism in socio-political terms too, with numerous voices from the autism spectrum being heard in the scientific literature and beyond.
There are various factors that have contributed to the increased visibility of those diagnosed with autism contributing to the narrative about autism. As mentioned, the fact that children with autism become autistic adults is starting to become more widely appreciated in various circles. The expansion of the diagnostic criteria has also played a strong role too, as the diagnostic boundaries of the autism spectrum were widened to include those with sometimes good vocal communicative abilities. The growth in social media and related communication forms likewise provided a platform for many people to voice their own opinions about what autism means to them and further influence discussions about autism. The idea that autistic people are experts on autism continues to grow ( 54 ).
For some people with autism, the existing narrative about autism based on a deficit model (deficits in socio-communicative abilities for example) is seemingly over-emphasised. The existing medical model of autism focusing such deficits as being centred on the person does not offer a completely satisfying explanation for autism and how its features can disable a person. Autism does not solely exist in a sociological as well as diagnostic vacuum. In this context, the rise and rise of the concept of neurodiversity offered an important alternative to the existing viewpoint.
Although still the topic of some discussion, neurodiversity applied to autism is based on several key tenets: (a) all minds are different, and (b) “ neurodiversity is the idea that neurological differences like autism and ADHD are the result of normal, natural variation in the human genome ” ( 55 ). The adoption of the social model of disability by neurodiversity proponents moves the emphasis on the person as the epicentre of disability to that where societal structures and functions tend to be “ physically, socially and emotionally inhospitable towards autistic people ” ( 56 ). The message is that subtle changes to the social environment could make quite a lot of difference to the disabling features of autism.
Although a popular idea in many quarters, the concept of neurodiversity is not without its critics both from a scientific and sociological point of view ( 57 ). Certain key terms often mentioned alongside neurodiversity (e.g., neurotypical) are not well-defined or are incompatible with the existing research literature ( 58 ). The idea that societal organisation is a primary cause of the disability experienced by those with the most profound types of autism is also problematic in the context of current scientific knowledge and understanding. Other issues such as the increasing use of self-diagnosis ( 59 ) and the seeming under-representation of those with the most profound forms of autism in relation to neurodiversity further complicate the movement and its aims.
The challenges that face the evolving concept of neurodiversity when applied to autism should not however detract from the important effects that it has had and continues to have. Moving away from the idea that autistic people are broken or somehow incomplete as a function of their disability is an important part of the evolution of autism. The idea that autism is something to be researched as stand-alone issue separate from the person is something else that is being slowly being eroded by such a theory.
The concept of autism continues to evolve in relation to research, clinical practice and sociological domains. Such changes offer clues as to the future directions that autism may take and the challenges that lie ahead.
The continuing focus on the huge heterogeneity and comorbidity clusters that define autism are ripe for the introduction of a new taxonomy for describing the condition. A more plural definition—the autisms—could represent one starting position ( 60 ) encompassing a greater appreciation that (a) there is variety in the presentation of the core features of autism, (b) there are seemingly several different genetic and biological pathways that bring someone to a diagnosis of autism, (c) different developmental trajectories are an important facet of the autism spectrum, and (d) the various “comorbidities” that variably present alongside autism may offer important clues about the classification of autism. Some authors have stressed that a multi-dimensional conceptualisation may be more appropriate than a categorical concept ( 61 ) but further investigations are required.
In relation to the proposed pluralisation of the label, several long held “beliefs” about autism are also ripe for further investigation. The idea that autism is innate and presents in the earliest days in all does not universally hold ( 45 ). The finding that some children experience a period of typical development and then regress into autism ( 62 ) is becoming more readily discussed in research and clinical circles, albeit not universally so. Similarly, the belief that autism is a lifelong condition for all is also not borne out by the peer-reviewed literature ( 63 ). Terms such as optimal outcome ( 64 ) might not be wholly appropriate, but do nonetheless, shed light on an important phenomenon noted in at least some cases of autism where diagnostic cut-off points are reached at one point but not another. These and other important areas provide initial support for the adoption of the idea of the plural autisms.
Allied to the notion of “the autisms” is the requirement to overhaul the terminology around the use of the “level of functioning” phrase ( 65 ). “High functioning” is typically used to describe those people on the spectrum who present with some degree of communicative language, possess typical or above-average intelligence and who can seemingly traverse the world with only minimal levels of support. “Low functioning”, conversely, is used to describe those with significant support needs who may also be non-communicative. Aside from the societal implications of labelling someone “low functioning” and the possible connotations stemming from such a label, such functioning categorisation do not seemingly offer as accurate a representation as many people might think. The high-functioning autistic child who for example, has been excluded from school on the basis of their behaviour, cannot be readily labelled “high-functioning” if the presentation of their autistic behaviours has led to such a serious outcome. This on the basis that part of the diagnostic decision to diagnose autism is taken by appreciation of whether or not presented behaviours significantly interfere with day-to-day living ( 3 ). What might replace functioning labels is still a matter for debate. The use of “levels of support requirement” utilised in current diagnostic criteria offer a template for further discussions. Such discussions may also need to recognise that the traits of autism are not static over a lifetime ( 51 ) and support levels may vary as a result.
Whatever terminology is put forward to replace functioning labels, there is a need to address some very apparent differences in the way that parts of the autism spectrum are viewed, represented and included in research. Described as the “understudied populations” by some authors ( 66 ) those with limited verbal communicative language and learning disability have long been disadvantaged in research terms and also in more general depictions of autism. In more recent times, there has been a subtle shift to acknowledge the bias that exists against those with a more profound presentation of autism ( 67 ). Further developments are however required to ensure that such groups are not excluded; not least also to guarantee the generalisability of autism research to the entire spectrum and not just one portion of it.
On the topic of generalisability to the entire autism spectrum, the moves to further involve those diagnosed with autism in research, clinical and sociological discussions presents opportunities and obstacles in equal measure. The application of the International Classification of Functioning, Disability and Health (ICF) to autism ( 68 ) to measure “health-related functioning” represented a key moment in autism participatory research. Taking on board various views and opinions about autism, the development of the ICF core autism sets has allowed those with autism and their significant others to voice their opinions about autism ( 69 ).
Such joint initiatives are to be welcomed on the basis of the multiple perspectives they offer including lived experience of autism. But with such participation, so questions are also raised about how representative such opinions are to the entire autism spectrum ( 70 ). Questions on whether those who are able to participate in such initiatives “can ever truly speak for the entire autism spectrum?” are bound to follow. Questions also about whether such first-hand reports are more important than parental or caregiver input when it comes to individuals on the autism spectrum are likewise important to ask. This bearing in mind that those with autism participating in such initiatives bring with them the same potential biases as researchers and clinicians carry with them about the nature of autism, albeit not necessarily in total agreement.
The translation of research findings into clinical practice represents another important issue that has yet to be suitably addressed. Although covering a sizeable area, several important stumbling blocks have prohibited the move from “bench to bedside” when it comes to autism research. The focus for example, on the overt behavioural presentation of autism, has in some senses continued to hinder the translational progress of more biological-based findings into autism practice. Nowhere is this seemingly more evident than when it comes to the over-representation of gastrointestinal (GI) issues in relation to autism and their management or treatment. Despite multiple findings of such issues being present ( 16 ), very little is seemingly offered despite autism-specific screening and management guidance being in place for nearly a decade at the time of writing ( 71 ). Other quite consistently reported research findings in relation to low functional levels of vitamin D ( 72 ) for example, have similarly not sparked massive shifts in clinical practices. Ignoring such potentially important clinical features contributes to a state of relative health inequality that is experienced by many on the autism spectrum.
Without trying to prioritise some areas over others, there are some important topics in relation to autism that are becoming important to autism research and clinical practice. Many of these topics are more “real life” focused; taking into account the impact of autism or autistic traits on daily living skills and functioning. These include issues such as the truly shocking early mortality statistics around autism ( 73 ) and the need for more detailed inquiry into the factors around such risks such as suicide ( 74 ) and self-injury ( 75 ) and wandering/elopement ( 76 ) alongside the considerable influence of conditions such as epilepsy.
Although already previously hinted at in this paper, the nature of the relationship between autism and various “comorbid” conditions observed to be over-represented alongside is starting to become more widely discussed in scientific circles. Whether for example, moves to intervene to mitigate issues such as depression in relation to autism might also have knock-on effects on the presentation of core autistic features is something being considered. Interest in other topics such as employment, ageing, parenting and the worrying issue of contact with law enforcement or criminal justice systems ( 77 ) are also in the ascendancy.
Autism as a diagnostic label continues to evolve in research, clinical practice and sociological terms. Although the core features described by Kanner and others have weathered such evolution, important shifts in knowledge, views and opinions have influenced many important issues around those core behaviours. As well as increasing understanding of autism, many of the changes, past and present, have brought about challenges too.
All authors contributed equally to the writing and review of this manuscript.
This paper was fully funded by ESPA Research using part of a donation from the Robert Luff Foundation (charity number: 273810). The Foundation played no role in the content, formulation or conclusions reached in this manuscript.
Conflict of Interest
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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Keywords: autism, research, clinical, sociological, knowledge, future
Citation: Whiteley P, Carr K and Shattock P (2021) Research, Clinical, and Sociological Aspects of Autism. Front. Psychiatry 12:481546. doi: 10.3389/fpsyt.2021.481546
Received: 28 June 2019; Accepted: 30 March 2021; Published: 29 April 2021.
Copyright © 2021 Whiteley, Carr and Shattock. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
*Correspondence: Paul Whiteley, firstname.lastname@example.org
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- Published: 16 January 2020
Autism spectrum disorder
- Catherine Lord 1 ,
- Traolach S. Brugha 2 ,
- Tony Charman 3 ,
- James Cusack 4 ,
- Guillaume Dumas 5 ,
- Thomas Frazier 6 ,
- Emily J. H. Jones 7 ,
- Rebecca M. Jones 8 , 9 ,
- Andrew Pickles 3 ,
- Matthew W. State 10 ,
- Julie Lounds Taylor 11 &
- Jeremy Veenstra-VanderWeele 12
Nature Reviews Disease Primers volume 6 , Article number: 5 ( 2020 ) Cite this article
- Autism spectrum disorders
- Cognitive neuroscience
Autism spectrum disorder is a construct used to describe individuals with a specific combination of impairments in social communication and repetitive behaviours, highly restricted interests and/or sensory behaviours beginning early in life. The worldwide prevalence of autism is just under 1%, but estimates are higher in high-income countries. Although gross brain pathology is not characteristic of autism, subtle anatomical and functional differences have been observed in post-mortem, neuroimaging and electrophysiological studies. Initially, it was hoped that accurate measurement of behavioural phenotypes would lead to specific genetic subtypes, but genetic findings have mainly applied to heterogeneous groups that are not specific to autism. Psychosocial interventions in children can improve specific behaviours, such as joint attention, language and social engagement, that may affect further development and could reduce symptom severity. However, further research is necessary to identify the long-term needs of people with autism, and treatments and the mechanisms behind them that could result in improved independence and quality of life over time. Families are often the major source of support for people with autism throughout much of life and need to be considered, along with the perspectives of autistic individuals, in both research and practice.
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The authors thank J. McCauley, S. Gaspar, K. Byrne and A. Holbrook from UCLA for help with manuscript preparation. S. Tromans is thanked for his updated review of the epidemiology literature. We recognize the many investigators who contributed research that we cannot cite due to space limitations. C.L. is supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHHD; R01 HD081199), the National Institute of Mental Health (NIMH; R01MH081873-01A1) and the Simons Foundation. T.S.B. is supported by grants from the Health and Social Care Information Centre, Leeds, and the National Institute for Health Research (NIHR HTA; grant ref. NIHR127337). T.C. is supported by grants from Innovative Medicines Initiative 2 (no. 777394), the Medical Research Council (MRC; grants MR/K021389/1) and the NIHR (grant 13/119/18). J.C. is funded by Autistica. G.D. is supported by the Institut Pasteur. T.F. is supported by the Autism Speaks Foundation. E.J.H.J. is supported by grants from the Economic and Social Research Council (ESRC; ES/R009368/1), the Innovative Medicines Initiative 2 (no. 777394), the MRC (MR/K021389/1) and the Simons Foundation (609081). R.M.J. acknowledges the Mortimer D. Sackler Family and the NIMH (R01MH114999). J.L.T. is supported by grants from the FAR fund and the NIMH (R34 MH104428, R03 MH 112783 and R01 MH116058). A.P. is partially supported by the Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King’s College London and the NIHR (NF-SI-0617-10120). M.W.S. is supported by the National Institutes of Health (NIH; MH106934, MH109901, MH110928, MH116487 MH102342, MH111662, MH105575 and MH115747), the Overlook International Foundation and the Simons Foundation. J.V.-V. is supported by the NIH (MH016434 and MH094604), the Simons Foundation and the New York State Psychiatric Institute. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health and Social Care.
Authors and affiliations.
Departments of Psychiatry and School of Education, University of California, Los Angeles, Los Angeles, CA, USA
Department of Health Sciences, University of Leicester, Leicester, UK
Traolach S. Brugha
Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK
Tony Charman & Andrew Pickles
Autistica, London, UK
Institut Pasteur, UMR3571 CNRS, Université de Paris, Paris, France
Autism Speaks, New York, NY, USA
Centre for Brain & Cognitive Development, University of London, London, UK
Emily J. H. Jones
The Sackler Institute for Developmental Psychobiology, New York, NY, USA
Rebecca M. Jones
The Center for Autism and the Developing Brain, White Plains, NY, USA
Department of Psychiatry, Langley Porter Psychiatric Institute and Weill Institute for Neurosciences, University of California, San Francisco, CA, USA
Matthew W. State
Department of Pediatrics and Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA
Julie Lounds Taylor
Department of Psychiatry, Columbia University, New York, NY, USA
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All authors read and edited the full document. Introduction (C.L.), Epidemiology (T.S.B.), Mechanisms/pathophysiology (M.W.S., G.D., R.M.J., T.C. and E.J.H.J.), Diagnosis, screening and prevention (T.C., E.J.H.J. and T.S.B.), Management (T.S.B., T.C., E.J.H.J., J.L.T. and J.V.-V.), Quality of life (J.L.T., J.C. and T.F.), Outlook (C.L. and A.P.), Overview of Primer (C.L.).
Correspondence to Catherine Lord .
C.L. acknowledges the receipt of royalties from Western Psychological Services for the sale of the Autism Diagnostic Interview-Revised (ADIR), the Autism Diagnostic Observation Schedule (ADOS) and the Social Communication Questionnaire (SCQ). T.S.B. has received royalties from Cambridge University Press and Oxford University Press. T.C. has served as a consultant to F. Hoffmann-La Roche. and has received royalties from Guilford Publications and Sage Publications. T.F. has received federal funding research support from, acted as a consultant to, received travel support from, and/or received a speaker’s honorarium from the Brain and Behaviour Research Foundation, Bristol-Myers Squibb, the Cole Family Research Fund, EcoEos, Forest Laboratories, Ingalls Foundation, IntegraGen, Kugona LLC, the National Institutes of Health, Roche Pharma, Shire Development and the Simons Foundation. J.L.T. receives compensation from Sage Publishers for editorial work. A.P. receives royalties from Imperial College Press, Oxford University Press and Western Psychological Services. M.W.S. serves on the scientific advisory boards and has stock or stock options for Arett Pharmaceuticals and BlackThorn Therapeutics. J.V.-V. has consulted or served on an advisory board for Novartis, Roche Pharmaceuticals and SynapDx, has received research funding from Forest, Novartis, Roche Pharmaceuticals, Seaside Therapeutics, SynapDx, and has received an editorial stipend from Springer and Wiley. All other authors declare no competing interests.
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Lord, C., Brugha, T.S., Charman, T. et al. Autism spectrum disorder. Nat Rev Dis Primers 6 , 5 (2020). https://doi.org/10.1038/s41572-019-0138-4
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DOI : https://doi.org/10.1038/s41572-019-0138-4
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Autism spectrum disorder research: knowledge mapping of progress and focus between 2011 and 2022
1 National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), NHC Key Laboratory of Mental Health (Peking University), Peking University Sixth Hospital, Peking University Institute of Mental Health, Beijing, China
2 Translational Medicine Center of Chinese Institute for Brain Research, Beijing, China
3 Guangdong Key Laboratory of Mental Health and Cognitive Science, Institute for Brain Research and Rehabilitation (IBRR), South China Normal University, Guangzhou, China
The original contributions presented in the study are included in the article/ Supplementary material , further inquiries can be directed to the corresponding authors.
In recent years, a large number of studies have focused on autism spectrum disorder (ASD). The present study used bibliometric analysis to describe the state of ASD research over the past decade and identify its trends and research fronts.
Studies on ASD published from 2011 to 2022 were obtained from the Web of Science Core Collection (WoSCC). Bibliometrix, CiteSpace, and VOSviewer were used for bibliometric analysis.
A total of 57,108 studies were included in the systematic search, and articles were published in more than 6,000 journals. The number of publications increased by 181.7% (2,623 in 2011 and 7,390 in 2021). The articles in the field of genetics are widely cited in immunology, clinical research, and psychological research. Keywords co-occurrence analysis revealed that “causative mechanisms,” “clinical features,” and “intervention features” were the three main clusters of ASD research. Over the past decade, genetic variants associated with ASD have gained increasing attention, and immune dysbiosis and gut microbiota are the new development frontiers after 2015.
This study uses a bibliometric approach to visualize and quantitatively describe autism research over the last decade. Neuroscience, genetics, brain imaging studies, and gut microbiome studies improve our understanding of autism. In addition, the microbe-gut-brain axis may be an exciting research direction for ASD in the future. Therefore, through visual analysis of autism literature, this paper shows the development process, research hotspots, and cutting-edge trends in this field to provide theoretical reference for the development of autism in the future.
Autism spectrum disorder (ASD) refers to a group of early-onset, lifelong, heterogeneous neurodevelopmental conditions with complex mechanisms of emergence ( 1 ). The prevalence of ASD has increased from 1 in 69 by 2012 to 1 in 44 by 2018, as reported by the Centers for Disease Control and Prevention for 2012–2018 ( 2 , 3 ). Recent research estimates the male-to-female ratio is closer to 2:1 or 3:1, indicating a higher diagnostic prevalence of autism in males compared to females ( 4 – 6 ). Some studies have shown a high heritability of 80–93% in ASD and reported hundreds of risk gene loci ( 7 ).
Specific autistic characteristics usually appear before the age of 3 years, and some children on the spectrum may have limited nonverbal and verbal communication by the age of 18–24 months ( 8 , 9 ). The diagnosis of ASD is based on the core features of social communication impairment and unusual and repetitive sensory-motor behavior ( 10 ). Some autistic individuals can be definitively diagnosed with autism as early as 2–3 years of age and the mean age of diagnosis for autistic children is still 4–5 years ( 1 , 11 ). It is important to stress that more adults are getting assessed for possible autism ( 5 ). As autism is increasingly diagnosed, multidisciplinary involvement can help have a positive impact on the well-being and quality of life for both children and adults on the spectrum ( 12 ). Several mental diseases also affect autistic individuals, increasing the diagnosis complexity ( 13 ).
Over the past decade, researchers have struggled to explain the neurological etiology, and great progress has been made in the genetics, epigenetics, neuropathology, and neuroimaging of ASD ( 9 ). However, there is a lack of systematic review of field research and discussion of future research hotspots. Bibliometrics ( 14 ) belongs to interdisciplinary research, which has been widely used in science by analyzing highly cited papers, field keyword clustering, and the internal cooperation links of countries, thus providing a comprehensive interpretation of the development process of autism research field ( 15 ).
In some of the previous bibliometrics studies on ASD, a single software was used to focus on a specific field or research aspect of the autism ( 16 – 18 ), and the trend in the past decade has not yet been displayed. The present study comprehensively combines Bibliometrix package, CiteSpace, and VOSviewer to (1) dynamically assess quantitative indicators of ASD research publications and use different index indicators to measure the quality of research; (2) further identify the most contributing countries, institutions, journals, and authors; (3) analyze the citation network architecture; (4) determine the top 100 most cited papers; (5) conduct keyword analysis. Subsequently, bibliometrics was used to understand the current hotspots and trends in the field of ASD research for further in-depth investigation.
Materials and methods
Data collection and search strategies.
We comprehensively searched the Web of Science Core Collection (WoSCC) database from 2011 to 2022. WoSCC is a daily updated database covering an abstract index of multidisciplinary literature that exports complete citation data, maintained by Thomson Reuters (New York, NY, USA) ( 19 ). The articles’ data were independently searched by two researchers on May 29, 2022, to avoid bias caused by database updates. The scientometric retrieval process is illustrated in Figure 1 . A total of 68,769 original articles in English language were retrieved, excluding 11,661 irrelevant articles, such as meeting abstracts, editorial materials, corrections, and letters. A total of 57,108 documents were exported, and the retrieved documents would be exported in the form of all records and references.
Flowchart of the screening process.
Grey prediction model
Grey models (GM) are used to construct differential prediction models with limited and incomplete data ( 20 ). The GM (1,1) model, with high accuracy and convenient calculations, is extensively utilized in the energy and medical industries ( 21 ). We used the standard GM (1,1) model to forecast the annual publication volume over the next 5 years. The operation of GM (1,1) model was done by using Python software.
Bibliometric analysis and visualization
The records of the retrieved publications were exported to Bibliometrix, CiteSpace, and VOSviewer for further bibliometric analysis.
Bibliometrix package (running on R4.0.3) was utilized to capture and extract the bibliographic information on selected publications, including topic, author, keywords, and country distribution ( 22 ). The productivity of authors/journals in the field was measured by the number of publications (Np) and assessing metrics, such as the number of citations, publication h-index value, and m-index value. The h-index is used to quantify the scientific output and measure the citation impact, and two people with similar h-index may have a similar impact in the scientific field, even if the total number of papers or total citations are different ( 23 ). The m-index can be used to compare the influence of scholars with different academic career years. The number of citations of a document is a measure of its scientific impact to a certain extent ( 24 ). Bibliometrix package was also used to screen the top 100 articles and explore research trends and hotspots.
VOSviewer is a free computer program to visualize bibliometric maps ( 25 ). The keyword co-occurrence network was constructed using VOSviewer. CiteSpace is based on the Java environment and uses methods, such as co-occurrence analysis and cluster analysis, for the visualization of scientific literature research data in specific disciplines. The visual knowledge maps were constructed using the procedural steps of CiteSpace ( 26 ), including time slicing, threshold, pruning, merging, and mapping; then, the contribution of countries and institutions of ASD over the past decade was assessed based on centrality scores. The co-citation network and dual-map of references were constructed by CiteSpace. A dual-map ( 27 ) overlay is a bipartite overlay analysis method by CiteSspace, which uses the distribution map cited journals in the WoS database as the base map, and the map generated by the cited literature data as the overlay map.
A total of 57,108 articles were included in this study, consisting of 46,574 articles, 2,643 conference papers, and 7,891 reviews. From 2011 to 2022, the number of publications maintained a steady growth rate ( Figure 2A ), and the grey prediction model predicted the trend of increasing publication volume in the next 5 years ( Figure 2B ). The main information for all publications is shown in Supplementary Table S1 .
Global trends in publications of ASD research. (A) Single-year publication output over the past decade. (B) Model forecast curves for publication growth trends.
Distribution of countries and institutions
Autism-related research has been conducted by researchers from a variety of countries and institutions, and articles in this field have been cited 1,231,588 times ( Tables 1 , ,2). 2 ). CiteSpace visualizes collaborative networks between institutions and countries ( Figures 3A , ,B). B ). As shown in the international collaborations network of autism research ( Figure 3C ), the USA and UK are the leading countries working closely with other countries.
Publications in top 10 most productive countries.
Publications in top 10 most productive Institutions.
The distribution of countries and institutions. Map of countries (A) and institutions (B) contributed to publications related to ASD research. (C) Network diagram showing international collaborations involved in ASD research. The nodes represent the countries and institutions; the color depth and size of the circle are positively correlated to the number of posts. The thickness of the curved connecting lines represents the strength of collaboration in the countries and institutions.
Analysis of journals
The h-index combines productivity and impact; typically, a high h-index means a high recognition. As presented in Table 3 , the Journal of Autism and Developmental Disorders, PLOS One, and Molecular Psychiatry were among the top three of the 20 journals with the highest h-index. The Journal of Autism and Developmental Disorders has the highest number of articles (3478) and cited number of publications (90308). Among the top 20, four journals with impact factors >10 include Molecular Psychiatry (IF: 13.437), Biological Psychiatry (IF: 12.810), Proceedings of the National Academy of Sciences of the United States of America (IF: 12.779), Journal of the American Academy of Child and Adolescent Psychiatry (IF: 13.113), which have been cited more than 10,000 times. In addition, 75% of journals belong to Q1 ( Table 3 ). The cited journals provided the knowledge base of the citing journals. The yellow paths illustrate that studies published in “molecular, biology, immunology” journals tended to cite journals primarily in the domains of “molecular, biology, genetics,” and “psychology, education, social.” The paths colored with grass-green paths illustrate that studies published in “medicine, medical, clinical” journals tended to cite journals primarily in the domains of “molecular, biology, and genetics.” The pale blue paths showcase that research published in “psychology, education, health” journals preferred to quote journals mostly in the domains of “molecular, biology, genetics,” “health, nursing, medicine,” and “psychology, education, social ( Figure 4 ).”
Top 20 journals ranked by h_index.
TC: total citation; IF: impact factor.
A dual-map overlay of journals that published work related to ASD. A presentation of citation paths at a disciplinary level on a dual-map overlay. The width of the paths is proportional to the z-score-scale citation frequency. The labels on the map represent the research subjects covered by the journals, and the wavy curve connects the citing articles on the left side of the map and the cited articles on the right side of the map.
Analysis of authors
The top 10 most effective authors who have contributed to autism research are listed in Table 4 . The g-index and m-index are derivatives of the h-index, and if scientists publish at least 10 articles, of which 7 papers have been cited cumulatively 51 (>49), the g-index is 7; the m-index is related to the academic age of the scientists. The large g-index, h-index, and m-index indicate a great influence on the scholar’s academic influence and high academic achievement. Professor Catherine Lord from the USA is ranked first and has made outstanding contributions to autism research over the past 10 years. In terms of the number of publications, Simon Baron-Cohen was the most productive author ( n = 278), followed by Tony Charman ( n = 212) and Christopher Gillberg ( n = 206). In terms of citations in this field, Daniel H. Geschwind was ranked first (18,127 citations), followed by Catherine Lord (14,830 citations) and Joseph D. Buxbaum (14,528 citations).
Top 10 most effective authors contributing to autism research.
TC: total citation; NP: number of papers.
Analysis of reference
The co-citation analysis network of 1,056,125 references ( Figure 5A ) showed that two articles appear simultaneously in the bibliography of the third cited document. The top 20 co-cited references (over the past decade) summarized in ASD studies are listed in Supplementary Table S2 . Most of this highly cited literature focuses on the genetic field, discovering genetic risk loci and associated mutations, constructing mutation networks highly associated with autism, and identifying genes associated with autism synaptic destruction. Some studies indicated that de novo mutations in ASD might partially explain the etiology. Multiple studies have revealed genetic variants associated with ASD, such as rare copy number variants (CNVs), de novo likely gene-disrupting (LGD) mutations, missense or nonsense de novo variants, and de novo duplications. In the cluster network graph, different colors represent varied clusters, and each node represents a cited paper, displaying the distribution of topics in the field ( Figure 5B ). The network is divided into 25 co-citation clusters ( Figure 5B ), primarily related to the diagnosis, etiology, and intervention of autism. The etiological studies include five clusters, de novo mutation, inflammation, gut microbiota, mitochondrial dysfunction, and mouse model. Intervention literature focuses on early intensive behavioral intervention, intranasal oxytocin, video modeling, and multisensory integration. The diagnostic aspects of ASD include neuroimaging functional connectivity and Diagnostic and Statistical Manual of Mental Disorders (DSM-5). In addition, some of the references focus on gender/sex differences and sleep problems. Coronavirus disease 2019 (COVID-19) is a new cluster for autism research.
Mapping on co-cited references. (A) A network map showing the co-cited references. (B) Co-cited clusters with cluster labels.
Co-occurrence analysis of keywords
The co-occurrence analysis of keywords in ASD research articles was performed using VOSviewer software; the keywords that occurred ≥200 times were analyzed after being grouped into four clusters of different colors ( Figure 6A ); the temporal distribution of keywords is summarized in Figure 6B . This map identifies various categories of research: Etiological mechanisms (red), Clinical features (green), Intervention features (blue), and the Asperger cluster (yellow). In the “Etiological mechanisms” cluster, the research includes brain structure and function, genetics, and neuropathology. In the “Clinical features” cluster, the common keywords were “symptoms,” “diagnosis,” “prevalence,” and its comorbidities, including “anxiety” and “sleep.” In the “Intervention features” cluster, the research population of ASD is concentrated in “young children,” “intervention,” and “communication.” These interventions improve the learning and social skills through the involvement of parents and schools.
Keywords co-occurrence network. (A) Cluster analysis of keywords. There are four clusters of keywords: red indicates Cluster 1 ( n = 145), green indicates Cluster 2 ( n = 104), blue indicates Cluster 3 ( n = 78), yellow indicates Cluster 4 ( n = 80). (B) Evolution of keyword frequency. A minimum number of occurrences of a keyword = 200. Overall, 407 keywords met the threshold criteria. The yellow keywords appear later than purple keywords.
The 100 top-cited publications
The screening of the 100 most cited publications on ASD between 2011 and 2022 by Bibliometrix software package, each with >500 citations. The detailed evaluation index information for countries, institutions, journals, and authors ( Supplementary Tables S3 – S6 ).
Taken together, the results indicated that the United States is the country that publishes the most highly cited articles ( n = 64), including single-country publications ( n = 37) and multiple-country publications ( n = 27); most articles are from academic institutions within the USA ( Figures 7A , ,B B ).
Analysis of the 100 top-cited publications Characteristics of 100 top-cited publications. The most relevant countries (A) , affiliations (B) , journals (C) and authors (D) . Trend topics (E) and thematic evolution (F) of 100 top-cited publication. Coupling Map (G) : the coupled analysis of the article, references and keywords is carried out, the centrality of the x -axis is displayed, the y -axis is the impact, and the confidence (conf%) is calculated.
The 100 top-cited ASD publications were published in 48 journals; 17 articles were published in Nature ( n = 17), making it the highest h-index journal in this list ( Supplementary Table S5 ). In addition, 10 articles were published in Cell, and 7 articles were published in Nature Genetics ( Figure 7C ). When considering the individual authors’ academic contributions, Bernie Devlin provided 13 publications, followed by Kathryn Roeder and Stephan J Sanders, with 11 publications each ( Figure 7D ). The details of the top 10 top-cited papers are summarized in Table 5 . An article titled “A general framework for estimating the relative pathogenicity of human genetic variants” published by Martin Kircher in Nature Genetics, received the highest number of citations ( n = 3,353).
Detail of top 10 citation paper.
The 100 top-cited ASD articles encompassed a range of keywords ( Figure 7E ) and displayed the main cluster of themes through specific periods (2011–2022) by analyzing those in the selected literature. The Sankey diagrams of thematic evolution explain the topics that evolved throughout the years ( Figure 7F ). In summary, the core topics of the ASD field in 2011–2014 consisted of the risk of childhood ASD and further developed into the field of human genetic variants, such as CNV and de novo mutations. In the subperiod 2015–2020, the further expansion of studies in this field leads to new clusters, such as “immune system,” “brain development,” and “fecal microbiota.” Genome research in the upper right quadrant, including mutations and risk, is a major and evolving theme. The coupled map showing the brain-gut axis field, including intestinal microbiota and chain fatty acids, located in the lower right corner is crucial for autism research but is not yet well-developed ( Figure 7G ). The research on autism, including animal models, schizophrenia, is a well-developed field, but that on high-functioning autism and diagnosis is a marginal field.
This study used various bibliometric tools and software to analyze the published articles on ASD based on the WoSCC database from 2011 to 2022. By 2022, the annual number of publications and citations of ASD-related research showed an overall upward trend, reflecting the sustained interest and the diversity of areas.
In terms of regional distribution, researchers from different countries and regions have participated in autism research, and international cooperation has been relatively close over the past decade. The scientific research is supported by several countries and institutions, as well as by large-scale international cooperation ( 28 , 29 ). The USA has the highest collaboration performance, especially with UK, Canada, Australia and China. In addition to the limitations of financial aid, ethical, cultural, and racial issues are complex constraints that should be overcome for more diversity in autism research ( 30 , 31 ). We speculated that further collaboration between institutions and countries could promote autism research.
Among the top 20 academic journals, most of the papers were in the Journal of Autism and Developmental Disorders. The frequent publishing of ASD-related papers indicates the interest of readers and journal editors in Autism. Also, substantial studies have been carried out on ASDs, autism, and molecular autism. These journals are ascribed to the field of ASD, focusing on autism research and communication ASD science. However, the analysis of the 10 most cited publications revealed that they were published in such as Nature, Cell, Lancet; these ASD studies were all from high-impact journals.
From the perspective of authors, some of them have made outstanding contributions to global ASD research. Professor Catherine Lord, the top rank for h-index, m-index analysis conducted by the author, and who developed the two gold standards for autism diagnosis ( 32 , 33 ), are the most influencing factors in the field. ASD is a disease with complex genetic roots. Dr. Catherine Lord has conducted multiple studies using genome-wide association study (GWAS) and gene set analysis to identify variant signatures in autism ( 34 ). A recent meta-analysis showed that 74–93% of ASD risk is heritable, with an analysis of CNVs that highlights the key role of rare and de novo mutations in the etiology of ASD ( 35 ). Variation-affected gene clusters on networks associated with synaptic transmission, neuronal development, and chromatin regulation ( 36 , 37 ). The identification of the cross-disorder genetic risk factors found by assessing SNP heritability in five psychiatric disorders ( 38 ). Five of the top 10 cited papers in Table 5 focus on genetic variation, suggesting that over the past decade, research has shifted from a general concept of genetic risk to the different types of genetic variations associated with autism.
Simon Baron-Cohen of the Autism Research Center at the University of Cambridge was the most published author between 2011 and 2021. He contributed to the mind-blindness hypothesis of autism, developed the autism spectrum quotient (AQ) screening tool for autism, and focused on gender differences in autism ( 39 – 41 ). There are gender/sex differences in the volume and tissue density of brain regions, including the amygdala, hippocampus, and insula, and the heart-blind hypothesis links emotional recognition in individuals with autism to deficits in the amygdala ( 41 – 43 ). Then, Simon et al. backed up the “extreme male brain” theory of autism in a study of 36,000 autistic individuals aged 16–89 ( 44 ). Recently, an increasing number of studies from different perspectives have focused on how sex/gender differences are related to autism ( 4 , 5 , 45 ). In the future, studies of neural dimorphism in brain development in autism need to be conducted across the lifespan to reduce age-induced biases ( 41 ).
Hotspots and Frontiers
Keyword analysis was a major indicator for research trends and hotspot analysis. This study shows that keywords for autism research include etiological mechanism, clinical characteristics, and intervention characteristics. Genetic, environmental, epigenetic, brain structure, neuropathological, and immunological factors have contributed to studying its etiological mechanism ( 46 , 47 ). The studies on the abnormal cortical development in ASD have reported early brain overgrowth ( 48 ), reduced resting cerebral blood flow in the medial PFC and anterior cingulate ( 49 ), focal disruption of neuronal migration ( 50 ), and transcriptomic alterations in the cerebral cortex of autism ( 51 ). Genomics studies have identified several variants and genes that increase susceptibility to autism, affecting biological pathways related to chromatin remodeling, regulation of neuronal function, and synaptic development ( 51 – 54 ). In addition, many autism-related genes are enriched in cortical glutamatergic neurons, and mutations in the genes encoding these proteins result in neuronal excitation-inhibitory balance ( 51 , 55 ). A recent study using single-cell sequencing of the developing human cerebral cortex found strong cell-type-specific enrichment of noncoding mutations in ASD ( 56 ). Interestingly, genes interact with the environment; some studies have shown that environmental exposure during pregnancy is a risk factor for brain development ( 57 ), and there are changes in DNA methylation in the brains of ASD patients, reflecting an underlying epigenetic dysregulation.
Presently, the diagnosis of ASD is mainly based on symptoms and behaviors, but the disease has a high clinical heterogeneity, and the individual differences between patients are obvious ( 58 ). In this study, the keywords of the intervention cluster show the importance of early individualized intervention. Patient data are multidimensional, and individualized diagnoses could be made at multiple levels, such as age, gender, clinical characteristics, and genetic characteristics ( 59 ). Early individual genetic diagnosis aids clinical evaluation, ranging from chromosomal microarray (CMA) to fragile X genetic testing ( 60 ). However, the results of genetic research cannot guide the treatment. Notably, the treatment of autism is dominated by educational practices and behavioral interventions ( 61 ). Medication may address other co-occurring conditions, such as sleep disturbances, epilepsy, and gastrointestinal dysfunction ( 9 ). Professor Catherine Lord pointed out that the future of autism requires coordinated, large-scale research to develop affordable, individualized, staged assessments and interventions for people with ASD ( 62 ). Professor Baron-Cohen noted that increasing the sample size and collecting data from the same individual multiple times could reduce heterogeneity ( 58 ). In addition, screening for objective and valid biomarkers in the future would help to stratify diagnosis and reduce heterogeneity.
According to the keyword trend analysis of 100 highly cited documents, the genetic risk of autism was determined as the hot focus of research, and immune dysregulation and gut microbiome are the new development frontiers after 2015. Patients with ASD have altered immune function, microglia activation was observed in postmortem brain samples, and increased production of inflammatory cytokines and chemokines was observed in cerebrospinal fluid. The microglia are involved in synaptic pruning, and cytokines also affect neuronal migration and axonal projections ( 63 – 65 ). In addition, abnormal peripheral immune responses during pregnancy might affect the developing brain, increasing likelihood of autism ( 66 ). Several studies have pointed to abnormalities in immune-related genes in the brain and peripheral blood of autistic patients ( 51 , 67 , 68 ). Immune dysfunction is involved in the etiology of ASD and mediates the accompanying symptoms of autism. The patients have multiple immune-related diseases, asthma, allergic rhinitis, Crohn’s disease, and gastrointestinal dysfunction ( 69 – 71 ). Children with frequent gastrointestinal symptoms, such as abdominal pain, gas, constipation, or diarrhea, had pronounced social withdrawal and stereotyped behavior ( 70 – 72 ). Several studies suggested that these autism-related gastrointestinal problems might be related to intestinal microbiota composition ( 72 – 74 ). Accumulating evidence suggested that the microbiota-gut-brain axis influences human neurodevelopment, a complex system involving immune, metabolic, and vagal pathways in which bacterial metabolites directly affect the brain by disrupting the gut and blood–brain barrier ( 75 – 78 ). Fecal samples from children with autism contained high Clostridium species and low Bifidobacterium species ( 79 , 80 ). Probiotics can modulate gut microbiota structure and increase the relative abundance of Bifidobacteria , and clinical studies have shown that supplementation with probiotic strains improves attention problems in children with autism ( 81 , 82 ). Recent clinical trials have shown that microbiota transfer therapy improves gastrointestinal symptoms and autism-like behaviors in children with ASD ( 83 , 84 ).
This scientometric study comprehensively analyzes about a decade of global autism research. Research in the field of autism is increasing, with the United States making outstanding contributions, while neuroscience, genetics, brain imaging studies, or studies of the gut microbiome deepen our understanding of the disorder. The study of the brain-gut axis elucidates the mechanism of immunology in autism, and immunological research may be in the renaissance. The current data serve as a valuable resource for studying ASD. However, the future of autism needs further development. In the future, relevant research should be included for a complete representation of the entire autism population, and further collaboration between individuals, institutions, and countries is expected to accelerate the development of autism research.
Data availability statement
MJ, DZ, JL, and LW conceived and designed the study. MJ, TL, XL, KY, and LZ contributed to data collection and data analysis. MJ wrote the original manuscript. DZ, JL, and LW revised the article and contributed to the final version of the manuscript. All authors contributed to the article and approved the submitted version.
This work was supported by grants from the Key-Area Research and Development Program of Guangdong Province (2019B030335001) and the National Natural Science Foundation of China (grant numbers 82171537, 81971283, 82071541, and 81730037).
Conflict of interest
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.
The Supplementary material for this article can be found online at: https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1096769/full#supplementary-material
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What Is Autism Spectrum Disorder?
A Developmental and Neurological Disorder
Autism Spectrum Disorder Traits
What causes autism spectrum disorder.
- Diagnosing Autism Spectrum Disorder
Is There Treatment for Autism Spectrum Disorder?
Living With Autism Spectrum Disorder
- Next in Autism Guide Signs of Autism
Autism spectrum disorder (ASD) is a developmental and neurological disorder. Common characteristics of ASD, often simply called autism, include:
- Difficulty communicating and interacting with others
- Intensely focused or repetitive behaviors
- Traits that can make functioning at school, work, or other activities difficult
This article discusses autism spectrum disorder traits, causes, diagnosis, and treatment options, as well as considerations that go into living with autism or caring for someone who does.
Cavan Images / Getty Images
Why Is It Called Autism Spectrum Disorder?
Autism spectrum disorder (ASD) is named as such because autism exists on a spectrum, and there is a lot of variation in the type and intensity of traits that autistic people experience. There is also variation in skills, ability, and need for support. Some autistic people can perform all activities of daily life on their own, while others need a lot of support to do so.
Autism is a condition that exists on a spectrum, and the types and intensity of traits will vary. In other words, there is no single set of characteristics that defines ASD but there are common traits. For example, about 1 in 3 people with an ASD diagnosis experience an intellectual disability.
Generally, these traits can be grouped into three areas:
- Communication and interaction skills
- Repetitive or intensely focused behaviors
- Other characteristics
Communication and interaction characteristics may include:
- Avoiding eye contact or making little eye contact
- Not responding, or being slow to respond, to your name
- Infrequently sharing interest in, enjoyment of, or emotions with activities or objects (such as not showing things to others)
- Having trouble with back-and-forth conversations
- Having a sing-song or robotic tone of voice
Repetitive or intensely focused behaviors may include:
- Being upset by small changes in routine
- Repeating certain behaviors, including repetition of words or phrases
- Having a lasting and intense interest in certain topics, like numbers or facts
Other autism traits may include:
- Delayed movement or language skills
- Delayed learning or cognitive skills
- Impulsive, inattentive, or hyperactive behavior
There are some common strengths among some autistic people, though they are not necessarily autism traits. These include being strong visual and auditory learners, being able to retain information for a long time, and learning things in detail.
Can You Tell Someone Has Autism Spectrum Disorder by Their Appearance?
Autistic people don’t have a distinct appearance.
The primary cause of ASD is unknown. However, research suggests that genetics, biology, and the environment someone lives in all play a role.
For example, a person’s genetic makeup may combine with environmental factors to affect their development and lead to an autism diagnosis. While certain environmental factors like nutritional deficiencies have been studied for how they may increase the autism risk, such studies have significant limitations and require further investigation.
Autism can affect people from all backgrounds, but some are more at risk. These risk factors include:
- Being assigned male at birth (males are 4 times more likely than assigned females to develop ASD)
- Having certain genetic conditions (e.g., fragile X syndrome or Down syndrome )
- Having older parents
Is Autism Spectrum Disorder Genetic?
Genes are considered an important factor when discussing autism causes. People with a family history of ASD are more likely to have autism or have an autistic child. Having an autistic sibling is also a risk factor for developing autism and being diagnosed with an ASD.
Advances in genetic research have allowed scientists to better understand the genetic background of autism and how certain genetic mutations are associated with certain subtypes of ASD. The more that is known about the possible genetic origins of autism, the more accurate the diagnosis and counseling or treatment can be.
What Tests Diagnose Autism Spectrum Disorder?
Healthcare providers can diagnose autism by assessing a person’s development and behavior. There are many tools to help diagnose ASD, and no single tool by itself should serve as the basis for a diagnosis. Examples of diagnostic tools include:
- Childhood Autism Rating Scale (CARS)
- Autism Diagnosis Interview–Revised (ADI-R)
- Gilliam Autism Rating Scale–Second Edition (GARS-2)
- Autism Diagnostic Observation Schedule–Generic (ADOS-G)
- American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5)
These tools rely on the following two sources of information:
- A healthcare provider’s observation of the child’s behavior
- The parent or caregiver’s description of their child’s development and behavior
Sometimes, a parent/caregiver will be referred to a specialist to help reach a diagnosis.
There are also screening tools to help identify developmental delays. A screening tool is often not specific to a developmental disorder, and the screening does not lead to a diagnosis. The screening simply provides information for follow-up assessment.
Examples of screening tools that may be used to evaluate whether a child is experiencing developmental delays related to ASD include:
- Communication and Symbolic Behavior Scales (CSBS)
- Screening Tool for Autism in Toddlers and Young Children (STAT)
- Parents’ Evaluation of Developmental Status (PEDS)
When Is Autism Spectrum Disorder Typically Diagnosed?
Autism spectrum disorder can usually be reliably diagnosed by age 2, though it may be detected as soon as 18 months or younger. However, some autistic people may not get diagnosed until adolescence or even adulthood. Early diagnosis is crucial to ensuring a child gets started on the help they need.
Delayed Diagnosis in Boys vs. Girls
Children who are assigned female are significantly more likely to have a delayed diagnosis of autism spectrum disorder than their male counterparts.
One study found that not only were girls at a significantly higher age at diagnosis than boys, but they also experienced a longer delay in getting referred to mental health services.
Most of the research has been conducted on male populations, and recent research has suggested that males and females may experience their autism traits differently. This can lead to girls being insufficiently diagnosed. Underdiagnosis among girls means that the significantly higher rates of ASD among boys may not be entirely accurate.
More research is needed on ASD traits and sex differences to ensure that girls are adequately diagnosed and receive the support they need.
Treatment for an autism spectrum disorder may involve multiple medical and behavioral professionals in various settings, like education or at home.
As autism impacts people differently, treatment for autism traits is tailored to the individual. The goal of treatment is to improve function in everyday life and improve quality of life.
Types of treatments can be broken down into the following categories:
- Developmental , such as speech and language therapy
- Social-relational , such as social skills groups
- Behavioral , such as applied behavior analysis (ABA)
- Educational , such as the Treatment and Education of Autistic and Related Communication-Handicapped Children (TEACCH) approach
- Psychological , such as cognitive behavioral therapy (CBT)
- Pharmacological , such as medications to treat the inability to focus, though there are no medications to treat core autism traits
- Complementary and alternative medicine (CAM) , such as art therapy or animal therapy
Keep in mind that applied behavior analysis (ABA) can be controversial due to its emphasis on behavior modification and rewards. Some autism advocates find the ABA focus on "fixing" autism traits isn't a treatment approach that respects neurodivergence or places priority on how to help people live authentic and independent lives.
What Kind of Providers Specialize in Autism Spectrum Disorder?
Autistic people may be referred to healthcare providers specializing in behavioral, educational, psychological, and skill-building interventions.
The type of specialist needed to build treatment plans will depend on the individual type and intensity of autism traits. Even when specialists are involved, programs to help autistic people often also require the cooperation of caregivers and other family members.
A pediatric neurologist can be a good first specialist to see.
Complications of Autism Spectrum Disorder
Autistic people may experience a range of other conditions that can impact their daily life and overall quality of life. In addition to their autism traits, these complications can include:
- Epilepsy or seizure disorder
- Gastrointestinal (GI) issues (such as constipation )
- Unusual eating or sleeping habits
- Excessive anxiety , stress, or worry
- Unusual emotional reactions or moods
- More fear than expected or lack of fear
For autistic people and their families, daily life can be challenging. Accessing resources and setting expectations can help.
Tips for Living With Autism Spectrum Disorder
Everyday life isn’t always easy for autistic people and their families. Support comes in a variety of ways, from a variety of people. Even for autistic people with low support needs , life is still challenging.
Below are some tips that may make life for autistic people just a little easier each day:
- Try to maintain basic healthy behaviors, such as exercising and getting plenty of rest, to give yourself a solid foundation in everyday life.
- Regular checkups with your healthcare providers are important. Find providers who are comfortable working with autistic people.
- Changes can be really difficult to face. Plan ahead to give yourself plenty of time to process the transition and what to expect.
- Remember, there are many people who understand autism. Finding a support group can open doors to meeting more people like you and learning from their personal experiences to help you with your own.
The stigma around ASD stems from people’s misunderstanding of the condition and the interpretation of visible traits. For example, a person may notice an autistic child having trouble maintaining a back-and-forth conversation and judge them unfairly.
Stigma affects both the autistic person and their families, who may experience ignorance, discrimination, and prejudice about the ASD diagnosis.
Autism stigma hurts well-being, including physical and mental health, and can lead to fewer social connections. It may also cause autistic people to try to hide their autistic traits.
Reducing stigma and ensuring there are autism-friendly spaces to go to is important for reducing the negative effects on the mental, physical, and social health of autistic people and their families.
Using the Phrase "On the Spectrum"
Sometimes the phrase “on the spectrum” is used to describe others with traits thought to be associated with ASD. Such a phrase should be used carefully, as it can be stigmatizing and inaccurate.
Caring for Someone With Autism Spectrum Disorder
Taking care of an autistic person and meeting their needs can put caregivers and families under a lot of stress mentally, physically, and financially. Learning to communicate with an autistic person is crucial and may be an ongoing process.
Remembering that the person may not find the words to express their feelings is also important. For example, head banging may be an autism trait, or it could be that they have a headache but don’t know how to communicate that. Patience is key.
Because transitions and change can be distressing for autistic people, it can help to make a schedule and keep a routine. When changing schools or other transitions are inevitable, making a plan ahead of time can help make the change easier to handle.
Be sure to take time for play during the day. School, work, and therapy schedules can mean that most of the day is structured. Scheduling a time to play can help everyone unwind. Play looks different for autistic kids and adults, so finding how they like to play may mean trying different things.
Outlook for Autism Spectrum Disorder
Living with autism spectrum disorder or caring for someone who does isn’t easy and can make daily life more difficult.
While it can be very structured and intense, treatment can greatly improve everyday quality of life. The earlier the diagnosis, the better for being able to start treatment and experience its benefits.
Resources for Autism Spectrum Disorder
Besides healthcare providers and the specialized care they can give to an autistic person, some resources can help individuals and families live a little easier. Support groups may be beneficial for finding autistic communities. Autistic people and their families may also be eligible to receive government disability benefits.
There are also many programs for people with disabilities to access resources like employment, housing, community life, and other benefits. Check with your healthcare provider to locate resources and programs specific to autistic people in your area. Also, thanks to technology, you may be able to connect with resources and people outside your immediate area as well.
National Institute of Mental Health. Autism spectrum disorder .
Centers for Disease Control and Prevention. Autism spectrum disorder, family health history, genetics .
Centers for Disease Control and Prevention. Signs and symptoms of autism spectrum disorder .
Modabbernia A, Velthorst E, Reichenberg A. Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses . Mol Autism . 2017;8:13. doi:10.1186/s13229-017-0121-4
Rosti RO, Sadek AA, Vaux KK, Gleeson JG. The genetic landscape of autism spectrum disorders . Dev Med Child Neurol . 2014;56(1):12-18. doi:10.1111/dmcn.12278
Centers for Disease Control and Prevention. Screening and diagnosis of autism spectrum disorder for healthcare providers .
Gesi C, Migliarese G, Torriero S, et al. Gender differences in misdiagnosis and delayed diagnosis among adults with autism spectrum disorder with no language or intellectual disability . Brain Sci . 2021;11(7):912. doi:10.3390/brainsci11070912
Young H, Oreve M-J, Speranza, M. Clinical characteristics and problems diagnosing autism spectrum disorder in girls . Archives de Pédiatrie . 2018;25(6):399-403. doi:10.1016/j.arcped.2018.06.008
Centers for Disease Control and Prevention. Treatment and intervention services for autism spectrum disorder .
Centers for Disease Control and Prevention. Living with autism spectrum disorder .
Turnock A, Langley K, Jones CRG. Understanding stigma in autism: a narrative review and theoretical model . Autism in Adulthood . 2022;4(1):76-91. doi:10.1089/aut.2021.0005
By Emily Brown, MPH Emily is a health communication consultant, writer, and editor at EVR Creative, specializing in public health research and health promotion. With a scientific background and a passion for creative writing, her work illustrates the value of evidence-based information and creativity in advancing public health.
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- Patient Care & Health Information
- Diseases & Conditions
- Autism spectrum disorder
Your child's doctor will look for signs of developmental delays at regular checkups. If your child shows any symptoms of autism spectrum disorder, you'll likely be referred to a specialist who treats children with autism spectrum disorder, such as a child psychiatrist or psychologist, pediatric neurologist, or developmental pediatrician, for an evaluation.
Because autism spectrum disorder varies widely in symptoms and severity, making a diagnosis may be difficult. There isn't a specific medical test to determine the disorder. Instead, a specialist may:
- Observe your child and ask how your child's social interactions, communication skills and behavior have developed and changed over time
- Give your child tests covering hearing, speech, language, developmental level, and social and behavioral issues
- Present structured social and communication interactions to your child and score the performance
- Use the criteria in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), published by the American Psychiatric Association
- Include other specialists in determining a diagnosis
- Recommend genetic testing to identify whether your child has a genetic disorder such as Rett syndrome or fragile X syndrome
No cure exists for autism spectrum disorder, and there is no one-size-fits-all treatment. The goal of treatment is to maximize your child's ability to function by reducing autism spectrum disorder symptoms and supporting development and learning. Early intervention during the preschool years can help your child learn critical social, communication, functional and behavioral skills.
The range of home-based and school-based treatments and interventions for autism spectrum disorder can be overwhelming, and your child's needs may change over time. Your health care provider can recommend options and help identify resources in your area.
If your child is diagnosed with autism spectrum disorder, talk to experts about creating a treatment strategy and build a team of professionals to meet your child's needs.
Treatment options may include:
- Behavior and communication therapies. Many programs address the range of social, language and behavioral difficulties associated with autism spectrum disorder. Some programs focus on reducing problem behaviors and teaching new skills. Other programs focus on teaching children how to act in social situations or communicate better with others. Applied behavior analysis (ABA) can help children learn new skills and generalize these skills to multiple situations through a reward-based motivation system.
- Educational therapies. Children with autism spectrum disorder often respond well to highly structured educational programs. Successful programs typically include a team of specialists and a variety of activities to improve social skills, communication and behavior. Preschool children who receive intensive, individualized behavioral interventions often show good progress.
- Family therapies. Parents and other family members can learn how to play and interact with their children in ways that promote social interaction skills, manage problem behaviors, and teach daily living skills and communication.
- Other therapies. Depending on your child's needs, speech therapy to improve communication skills, occupational therapy to teach activities of daily living, and physical therapy to improve movement and balance may be beneficial. A psychologist can recommend ways to address problem behavior.
- Medications. No medication can improve the core signs of autism spectrum disorder, but specific medications can help control symptoms. For example, certain medications may be prescribed if your child is hyperactive; antipsychotic drugs are sometimes used to treat severe behavioral problems; and antidepressants may be prescribed for anxiety. Keep all health care providers updated on any medications or supplements your child is taking. Some medications and supplements can interact, causing dangerous side effects.
Managing other medical and mental health conditions
In addition to autism spectrum disorder, children, teens and adults can also experience:
- Medical health issues. Children with autism spectrum disorder may also have medical issues, such as epilepsy, sleep disorders, limited food preferences or stomach problems. Ask your child's doctor how to best manage these conditions together.
- Problems with transition to adulthood. Teens and young adults with autism spectrum disorder may have difficulty understanding body changes. Also, social situations become increasingly complex in adolescence, and there may be less tolerance for individual differences. Behavior problems may be challenging during the teen years.
- Other mental health disorders. Teens and adults with autism spectrum disorder often experience other mental health disorders, such as anxiety and depression. Your doctor, mental health professional, and community advocacy and service organizations can offer help.
Planning for the future
Children with autism spectrum disorder typically continue to learn and compensate for problems throughout life, but most will continue to require some level of support. Planning for your child's future opportunities, such as employment, college, living situation, independence and the services required for support can make this process smoother.
- Cognitive behavioral therapy
Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.
Because autism spectrum disorder can't be cured, many parents seek alternative or complementary therapies, but these treatments have little or no research to show that they're effective. You could, unintentionally, reinforce negative behaviors. And some alternative treatments are potentially dangerous.
Talk with your child's doctor about the scientific evidence of any therapy that you're considering for your child.
Examples of complementary and alternative therapies that may offer some benefit when used in combination with evidence-based treatments include:
- Creative therapies. Some parents choose to supplement educational and medical intervention with art therapy or music therapy, which focuses on reducing a child's sensitivity to touch or sound. These therapies may offer some benefit when used along with other treatments.
- Sensory-based therapies. These therapies are based on the unproven theory that people with autism spectrum disorder have a sensory processing disorder that causes problems tolerating or processing sensory information, such as touch, balance and hearing. Therapists use brushes, squeeze toys, trampolines and other materials to stimulate these senses. Research has not shown these therapies to be effective, but it's possible they may offer some benefit when used along with other treatments.
- Massage. While massage may be relaxing, there isn't enough evidence to determine if it improves symptoms of autism spectrum disorder.
- Pet or horse therapy. Pets can provide companionship and recreation, but more research is needed to determine whether interaction with animals improves symptoms of autism spectrum disorder.
Some complementary and alternative therapies may not be harmful, but there's no evidence that they're helpful. Some may also include significant financial cost and be difficult to implement. Examples of these therapies include:
- Special diets. There's no evidence that special diets are an effective treatment for autism spectrum disorder. And for growing children, restrictive diets can lead to nutritional deficiencies. If you decide to pursue a restrictive diet, work with a registered dietitian to create an appropriate meal plan for your child.
- Vitamin supplements and probiotics. Although not harmful when used in normal amounts, there is no evidence they are beneficial for autism spectrum disorder symptoms, and supplements can be expensive. Talk to your doctor about vitamins and other supplements and the appropriate dosage for your child.
- Acupuncture. This therapy has been used with the goal of improving autism spectrum disorder symptoms, but the effectiveness of acupuncture is not supported by research.
Some complementary and alternative treatments do not have evidence that they are beneficial and they're potentially dangerous. Examples of complementary and alternative treatments that are not recommended for autism spectrum disorder include:
- Chelation therapy. This treatment is said to remove mercury and other heavy metals from the body, but there's no known link with autism spectrum disorder. Chelation therapy for autism spectrum disorder is not supported by research evidence and can be very dangerous. In some cases, children treated with chelation therapy have died.
- Hyperbaric oxygen treatments. Hyperbaric oxygen is a treatment that involves breathing oxygen inside a pressurized chamber. This treatment has not been shown to be effective in treating autism spectrum disorder symptoms and is not approved by the Food and Drug Administration (FDA) for this use.
- Intravenous immunoglobulin (IVIG) infusions. There is no evidence that using IVIG infusions improves autism spectrum disorder, and the FDA has not approved immunoglobulin products for this use.
Coping and support
Raising a child with autism spectrum disorder can be physically exhausting and emotionally draining. These suggestions may help:
- Find a team of trusted professionals. A team, coordinated by your doctor, may include social workers, teachers, therapists, and a case manager or service coordinator. These professionals can help identify and evaluate the resources in your area and explain financial services and state and federal programs for children and adults with disabilities.
- Keep records of visits with service providers. Your child may have visits, evaluations and meetings with many people involved in his or her care. Keep an organized file of these meetings and reports to help you decide about treatment options and monitor progress.
- Learn about the disorder. There are many myths and misconceptions about autism spectrum disorder. Learning the truth can help you better understand your child and his or her attempts to communicate.
- Take time for yourself and other family members. Caring for a child with autism spectrum disorder can put stress on your personal relationships and your family. To avoid burnout, take time out to relax, exercise or enjoy your favorite activities. Try to schedule one-on-one time with your other children and plan date nights with your spouse or partner — even if it's just watching a movie together after the children go to bed.
- Seek out other families of children with autism spectrum disorder. Other families struggling with the challenges of autism spectrum disorder may have useful advice. Some communities have support groups for parents and siblings of children with the disorder.
- Ask your doctor about new technologies and therapies. Researchers continue to explore new approaches to help children with autism spectrum disorder. See the Centers for Disease Control and Prevention website on autism spectrum disorders for helpful materials and links to resources.
Preparing for your appointment
Your child's health care provider will look for developmental problems at regular checkups. Mention any concerns you have during your appointment. If your child shows any signs of autism spectrum disorder, you'll likely be referred to a specialist who treats children with the disorder for an evaluation.
Bring a family member or friend with you to the appointment, if possible, to help you remember information and for emotional support.
Here's some information to help you prepare for your appointment.
What you can do
Before your child's appointment, make a list of:
- Any medications, including vitamins, herbs and over-the-counter medicines that your child is taking, and their dosages.
- Any concerns you have about your child's development and behavior.
- When your child began talking and reaching developmental milestones. If your child has siblings, also share information about when they reached their milestones.
- A description of how your child plays and interacts with other children, siblings and parents.
- Questions to ask your child's doctor to make the most of your time.
In addition, it may be helpful to bring:
- Notes of any observations from other adults and caregivers, such as babysitters, relatives and teachers. If your child has been evaluated by other health care professionals or an early intervention or school program, bring this assessment.
- A record of developmental milestones for your child, such as a baby book or baby calendar, if you have one.
- A video of your child's unusual behaviors or movements, if you have one.
Questions to ask your child's doctor may include:
- Why do you think my child does (or doesn't) have autism spectrum disorder?
- Is there a way to confirm the diagnosis?
- If my child does have autism spectrum disorder, is there a way to tell how severe it is?
- What changes can I expect to see in my child over time?
- What kind of special therapies or care do children with autism spectrum disorder need?
- How much and what kinds of regular medical care will my child need?
- What kind of support is available to families of children with autism spectrum disorder?
- How can I learn more about autism spectrum disorder?
Don't hesitate to ask other questions during your appointment.
What to expect from your child's doctor
Your child's doctor is likely to ask you a number of questions. Be ready to answer them to reserve time to go over any points you want to focus on. Your doctor may ask:
- What specific behaviors prompted your visit today?
- When did you first notice these signs in your child? Have others noticed signs?
- Have these behaviors been continuous or occasional?
- Does your child have any other symptoms that might seem unrelated to autism spectrum disorder, such as stomach problems?
- Does anything seem to improve your child's symptoms?
- What, if anything, appears to worsen symptoms?
- When did your child first crawl? Walk? Say his or her first word?
- What are some of your child's favorite activities?
- How does your child interact with you, siblings and other children? Does your child show interest in others, make eye contact, smile or want to play with others?
- Does your child have a family history of autism spectrum disorder, language delay, Rett syndrome, obsessive-compulsive disorder, or anxiety or other mood disorders?
- What is your child's education plan? What services does he or she receive through school?
- 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.
- Autism spectrum disorder and digestive symptoms
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October 24, 2023
App aids early screening for autism
At a glance.
- An app that records toddlers’ responses to videos on a tablet detected early signs of autism spectrum disorder with a high level of accuracy.
- This type of digital screening holds promise for improved early detection and intervention for autism.
A toddler plays a bubble-popping game as part of a 10-minute app that can greatly aid in screening children for autism. Duke University
Autism spectrum disorder (ASD) is a complex condition marked by challenges with social communication and the presence of repetitive behaviors. It’s called a “spectrum” condition because the behavioral features and their degree can vary widely in different people. Signs of ASD typically appear in the first two years of life. Early diagnosis and intervention can improve outcomes for people on the autism spectrum. But ASD can be difficult to diagnose.
Children are often screened for ASD at an early age during well-child medical visits. Standard screening is based on a caregiver questionnaire. But this method has proven less accurate in real-world health care settings than in research studies. So scientists have been working to develop accurate, easy-to-use screening tools to improve early detection.
Two years ago, a research team led by Drs. Geraldine Dawson and Guillermo Sapiro at Duke University reported promising results from a prototype mobile app that could detect distinctive eye gaze patterns in toddlers who were later diagnosed with ASD. Data from the app showed that children with ASD were less likely to focus on social content in videos and had difficulty visually tracking conversations.
For their latest study, the researchers developed and tested a new tablet-based app called SenseToKnow. This experimental app collects data not only on the child’s eye gaze but also on facial expressions, attention, head movements, and other behaviors related to ASD. An algorithm combines and quantifies these diverse digital measurements. Machine learning was used to adjust the weight of different measures to improve the app’s predictive abilities.
The app was tested in 475 children, ages 17 months to 3 years, during pediatric well-child visits. During a 10-minute session, the child sat on a caregiver’s lap and interacted with the app. Results appeared online in Nature Medicine on October 2, 2023.
Forty-nine of the toddlers were later diagnosed with ASD, and 98 with developmental delay without ASD. The researchers found that the SenseToKnow app correctly identified about 88% of the children who were later diagnosed with ASD. This ability was similar across different sexes, races, and ethnicities. The app also correctly identified more than 80% of the children who did not have ASD. However, this was lower for Black children (54%) compared to others. Larger studies are now underway to more fully assess the app’s predictive value among diverse populations.
The researchers found that of all the toddlers who screened positive for ASD, only 41% were later diagnosed with the condition, but that was a significant improvement over the 15% found in studies using a caregiver questionnaire alone. When the app’s screening data were combined with data from caregiver questionnaires, the likelihood of a positive screen leading to an ASD diagnosis rose to more than 63%. Screening that relies on integrating data from multiple sources, the researchers note, will likely improve results.
“There is a wide range of expertise amongst health care providers in knowing and being able to recognize all the potential signs of a child being on the autism spectrum,” Dawson explains. “This app could help clinicians focus on the areas in which the child needs help, as well as identify areas of strength.”
—by Vicki Contie
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References: Early detection of autism using digital behavioral phenotyping. Perochon S, Di Martino JM, Carpenter KLH, Compton S, Davis N, Eichner B, Espinosa S, Franz L, Krishnappa Babu PR, Sapiro G, Dawson G. Nat Med . 2023 Oct;29(10):2489-2497. doi: 10.1038/s41591-023-02574-3. Epub 2023 Oct 2. PMID: 37783967.
Funding: NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and National Institute of Mental Health (NIMH); Simons Foundation.
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Suicidality (ideation and attempt), limitations, conclusions, acknowledgments, mental health of youth with autism spectrum disorder and gender dysphoria.
FUNDING: This project is supported by the Health Resources and Services Administration (HRSA)/Maternal and Child Health Bureau (MCHB) of the US Department of Health and Human Services (HHS) under the Autism Secondary Data Analysis Research Program [1 R41MC42490‐01‐00]. HRSA/MCHB had no role in the design and conduct of the study. The information, content and/or conclusions are those of the authors and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA/MCHB, HHS or the U.S. Government.
CONFLICT OF INTEREST DISCLOSURES: Dr Sequeira is a consultant for Pivotal Ventures and the Fenway Institute. Dr Nokoff is a consultant for Neurocrine Biosciences, Inc, and Ionis Pharmaceuticals. Dr Voss was recently a consultant for CVS Caremark. The other authors have indicated they have no potential conflicts of interest to disclose.
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Nicole F. Kahn , Gina M. Sequeira , Valentino Reyes , Michelle M. Garrison , Felice Orlich , Dimitri A. Christakis , Tandy Aye , Lee Ann E. Conard , Nadia Dowshen , Anne E. Kazak , Leena Nahata , Natalie J. Nokoff , Raina V. Voss , Laura P. Richardson; Mental Health of Youth With Autism Spectrum Disorder and Gender Dysphoria. Pediatrics 2023; e2023063289. 10.1542/peds.2023-063289
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Youth with either autism spectrum disorder (ASD) or gender dysphoria (GD) alone have also been shown to be at greater risk for mental health (MH) concerns; however, very little research has considered how cooccurring ASD and GD may exacerbate MH concerns. The purpose of this study was to examine associations between ASD, GD, and MH diagnoses (anxiety, depression, eating disorder, suicidality, and self-harm) among US adolescent populations.
This is a secondary analysis of a large administrative dataset formed by 8 pediatric health system members of the PEDSnet learning health system network. Analyses included descriptive statistics and adjusted mixed logistic regression models testing for associations between combinations of ASD and GD diagnoses and MH diagnoses as recorded in the patient’s electronic medical record.
Based on data from 919 898 patients aged 9 to 18 years, adjusted mixed logistic regression indicated significantly greater odds of each MH diagnosis among those with ASD alone, GD alone, and cooccurring ASD/GD diagnoses compared with those with neither diagnosis. Youth with cooccurring ASD/GD were at significantly greater risk of also having anxiety (average predicted probability, 0.75; 95% confidence interval, 0.68–0.81) or depression diagnoses (average predicted probability, 0.33; 95% confidence interval, 0.24–0.43) compared with youth with ASD alone, GD alone, or neither diagnosis.
Youth with cooccurring ASD/GD are more likely to also be diagnosed with MH concerns, particularly anxiety and depression. This study highlights the need to implement developmentally appropriate, gender-affirming MH services and interventions for youth with cooccurring ASD/GD.
Youth with either autism spectrum disorder (ASD) or gender dysphoria (GD) alone have been shown to be at greater risk for mental health concerns. However, very little research has considered cooccurring ASD/GD and further associations with mental health.
Building on recent research on cooccurring autism spectrum disorder (ASD) gender dysphoria (GD), this study illustrates the increased risk for anxiety and depression that youth with cooccurring ASD/GD experience and highlights the need for developmentally appropriate, gender-affirming mental health services and interventions for these youth.
Autism spectrum disorder (ASD) and gender dysphoria (GD) frequently cooccur, 1 , – 11 and youth with either ASD or GD alone have been shown to be at greater risk for experiencing mental health concerns such as anxiety, depression, eating disorders, suicidal behavior, and self-harm. 6 , 7 , 12 , – 17 Specifically, data suggest that nearly 80% of youth with ASD have at least 1 mental health concern, with at least half having 2 or more. 12 , – 14 , 18 , 19 Similarly, transgender and gender diverse youth have been shown to be at 2- to 3-fold greater risk for mental health concerns compared with their cisgender peers. 6 , 15 , 20
Although there is a relatively robust literature on mental health concerns among those with ASD or GD alone, very little research has considered cooccurring ASD and GD and further associations with mental health. 4 , 21 , – 23 This is exacerbated by the fact that most existing research on cooccurring ASD and GD in pediatric populations has used clinical convenience samples or case studies, 1 , – 4 limiting both the generalizability of the findings and the statistical power needed to consider additional comorbidities associated with these diagnoses. Therefore, the purpose of this study was to better understand associations between ASD, GD, and mental health diagnoses among a large sample of US adolescents. Based on previous research, 4 , 12 , – 16 , 18 , 21 , 22 we hypothesized that youth with cooccurring ASD and GD diagnoses would exhibit more anxiety, depression, eating disorders, suicidality, and self-harm compared with those with only 1 or neither diagnosis.
This secondary analysis used data from a large administrative dataset formed by the PEDSnet learning health system network of 8 pediatric hospital institutions. 24 We included patients in the analysis if they (1) were aged 9 to 18 years and (2) had ≥2 inpatient or outpatient encounters at a PEDSnet member institution between 2009 and the data extraction date (March 2022), with at least 1 encounter in the previous 18 months. Main variables of interest included the presence of ASD, GD, anxiety, depression, eating disorder, suicidality (including ideation and attempt), and self-harm diagnoses as recorded in the patient’s electronic medical record (EMR; see Supplemental Table 4 for included diagnosis codes). Additional variables included sex, age, ethnicity, race, and health insurance type category (private, public, other) as documented in the patient’s EMR, and the PEDSnet institution where the patient was seen. EMR-reported sex represented the sex assigned at birth for most patients and was used to be consistent with previous PEDSnet research. 7 The “other” health insurance category included any insurance type that was not listed as private or public (eg, self-pay, charity).
Analyses were conducted in Stata 17.0 25 and included descriptive statistics and a set of adjusted mixed logistic regression models, modeling each individual mental health diagnosis as the outcome and combinations of ASD and GD diagnoses as the predictor (ASD alone, GD alone, cooccurring ASD/GD, neither). All models adjusted for age, EMR sex, ethnicity and race, health insurance type, and for clustering by PEDSnet institution. Ethnicity and race were included in our models given our recently published work with this cohort 8 and other published studies that suggest the existence of ethnic and racial disparities in access to evaluation and treatment of ASD, 26 , 27 gender dysphoria, 28 , – 30 and other mental health concerns, which are attributable to cultural norms, bias, and structural racism in health care settings. 31 We also calculated average predicted probabilities of each mental health diagnosis by ASD and GD diagnosis category. Finally, we conducted pairwise comparisons to test for statistically significant differences in the odds of each mental health diagnosis between each of the different groups (eg, comparing ASD only with GD only, GD only with ASD + GD). Results were considered statistically significant if the P value was less than .05 after the Bonferroni correction, which accounts for the family-wise error rate when making multiple comparisons.
All study procedures were reviewed and approved by the Seattle Children’s institutional review board.
Among the 919 898 patients meeting inclusion criteria, the mean age was 13.6 years (SD = 2.6). Just over half (50.8%) were reported as male in the EMR, 15.9% identified as Hispanic/Latino/a/x/e ethnicity, 55.2% identified as white, 40.3% used private insurance, and 32.5% used public insurance ( Table 1 ).
Sample Demographics ( n = 919 868)
Ethnicity and race categories are not mutually exclusive. Demographics of youth with gender dysphoria (GD) alone, autism spectrum disorder (ASD) alone, and ASD + GD have been presented elsewhere. 8
With respect to ASD and GD diagnoses, 4.4% ( n = 40 249) had an ASD diagnosis alone, 0.5% ( n = 4925) had a GD diagnosis alone, 0.05% ( n = 464) had both ASD and GD diagnoses, and 95.0% had neither diagnosis ( n = 874 230; Table 2 ). In the overall sample, 15.8% had an anxiety diagnosis, 4.6% had a depression diagnosis, 1.3% had an eating disorder diagnosis, 3.0% had a suicidality diagnosis, and 1.1% had a self-harm diagnosis; however, the prevalence of each mental health diagnosis was higher among those with ASD and/or GD, and greatest among those with cooccurring ASD and GD ( Table 2 ).
Prevalence of Mental Health Diagnoses by ASD and GD Diagnosis Categories
The average predicted probabilities of each mental health diagnosis by ASD and GD category from the adjusted mixed logistic regression are illustrated in Fig 1 . Broadly, the predicted probability of each mental health diagnosis was highest among those with cooccurring ASD and GD diagnoses and lowest among those with neither diagnosis.
Average predicted probabilities of each mental health diagnosis by ASD and GD diagnosis category. All models adjusted for age, EMR sex, ethnicity and race, health insurance type, and for clustering by PEDSnet institution. EMR, electronic medical record; Pr(MH), average predicted probability of mental health diagnosis.
Results of the pairwise comparisons between ASD and GD diagnosis groups using the Bonferroni correction for multiple tests are presented in Table 3 . In general, those with ASD alone, GD alone, and cooccurring ASD and GD showed significantly greater odds of each mental health diagnosis compared with those with neither ASD nor GD.
Pairwise Comparisons of Adjusted ORs and 95% CIs of Mental Health Diagnoses by ASD and GD Diagnosis Categories
Odds of row category compared with odds of column category; right side of the table represents the inverse of the left side. All models adjusted for age, EMR sex, ethnicity and race, health insurance type, and for clustering by PEDSnet institution. aOR, adjusted OR; CI, confidence interval; ASD, autism spectrum disorder; GD, gender dysphoria.
*Significant pairwise comparisons at the P < .05 level after Bonferroni correction.
Youth with only an ASD diagnosis had 4.46 times greater odds (95% CI, 4.33–4.59), youth with only a GD diagnosis had 6.07 times greater odds (95% CI, 5.61–6.57), and youth with cooccurring ASD and GD diagnoses had 19.31 times greater odds (95% CI, 14.11–26.42) of also having an anxiety diagnosis compared with those with neither ASD nor GD diagnoses. Youth with only a GD diagnosis also had significantly greater odds of an anxiety diagnosis compared with those with only an ASD diagnosis (adjusted OR [aOR], 1.36; 95% CI, 1.25–1.48), and youth with cooccurring ASD and GD diagnoses had significantly greater odds of an anxiety diagnosis compared with both youth with only an ASD diagnosis (aOR, 4.33; 95% CI, 3.16–5.93) and only a GD diagnosis (aOR, 3.18; 95% CI, 2.30–4.39).
Youth with only an ASD diagnosis had 1.89 times greater odds (95% CI, 1.78–2.01), youth with only a GD diagnosis had 11.47 times greater odds (95% CI, 10.53–12.50), and youth with cooccurring ASD and GD diagnoses had 18.81 times greater odds (95% CI, 14.34–24.68) of also having a depression diagnosis compared with those with neither ASD nor GD diagnoses. Similar to the results for anxiety, youth with only a GD diagnosis also had significantly greater odds of a depression diagnosis compared with those with only an ASD diagnosis (aOR, 6.07; 95% CI, 5.47–6.73), and youth with cooccurring ASD and GD diagnoses had significantly greater odds of a depression diagnosis compared with both youth with only an ASD diagnosis (aOR, 9.95; 95% CI, 7.54–13.13) and only a GD diagnosis (aOR, 1.64; 95% CI, 1.23–2.18).
Youth with only an ASD diagnosis had 5.22 times greater odds (95% CI, 4.84–5.62), youth with only a GD diagnosis had 4.70 times greater odds (95% CI, 4.08–5.41), and youth with cooccurring ASD and GD diagnoses had 5.97 times greater odds (95% CI, 3.94–9.05) of also having an eating disorder diagnosis compared with those with neither ASD nor GD diagnoses. No other differences emerged between youth with only ASD, only GD, and cooccurring ASD and GD diagnoses.
Youth with only an ASD diagnosis had 2.15 times greater odds (95% CI, 2.01–2.31), youth with only a GD diagnosis had 8.48 times greater odds (95% CI, 7.71–9.32), and youth with cooccurring ASD and GD diagnoses had 11.22 times greater odds (95% CI, 8.46–14.89) of also having a suicidality diagnosis compared with those with neither ASD nor GD diagnoses. Youth with only a GD diagnosis (aOR, 3.94; 95% CI, 3.51–4.41) and with cooccurring ASD and GD diagnoses (aOR, 5.21; 95% CI, 3.90–6.96) each had significantly greater odds of a suicidality diagnoses compared with youth with only an ASD diagnosis. There was no significant difference in the odds of a suicidality diagnosis when comparing youth with only a GD diagnosis and those with cooccurring ASD and GD diagnoses.
Youth with only an ASD diagnosis had 4.32 times greater odds (95% CI, 3.95–4.74), youth with only a GD diagnosis had 9.64 times greater odds (95% CI, 8.56–10.86), and youth with cooccurring ASD and GD diagnoses had 11.27 times greater odds (95% CI, 7.95–15.98) of also having a self-harm diagnosis compared with those with neither ASD nor GD diagnoses. Similar to the results for suicidality, youth with only a GD diagnosis (aOR, 2.23; 95% CI, 1.93–2.58) and with cooccurring ASD and GD diagnoses (aOR, 2.61; 95% CI, 1.82–3.73) each had significantly greater odds of a self-harm diagnoses compared with youth with only an ASD diagnosis, and no statistically significant difference emerged when comparing the odds of self-harm diagnosis among youth with only a GD diagnosis and those with cooccurring ASD and GD diagnoses.
The results of this study build on our previous research focused on demographic differences in cooccurring ASD and GD, showing that youth with cooccurring ASD and GD diagnoses are more likely to be diagnosed with anxiety and depression compared with their peers with 1 or neither of these diagnoses. Importantly, such research helps to better understand the cumulative impact of these diagnoses and can be used to inform collaborations between health care providers who specialize in ASD and gender-affirming care to create developmentally appropriate, gender-affirming services and support for youth with cooccurring ASD and GD. 32 , 33
In line with previous research, 22 we found that although youth with either ASD or GD alone were significantly more likely than youth with neither diagnosis to have anxiety or depression diagnoses, youth with cooccurring ASD and GD were significantly more likely to have these diagnoses compared with youth with only 1 of these diagnoses. Research suggests that the association between ASD and mental health concerns may be attributable to difficulties with sensory processing, executive functioning, and communication, all of which can contribute to social isolation and emotional dysregulation. 33 Similarly, gender-diverse youth face markedly elevated rates of marginalization, victimization, and social isolation related to their gender identity, which play a major role in the development of mental health concerns such as anxiety and depression. 34 Given these findings, providers should remain aware of these heightened risks and be prepared to implement mental health screening, interventions, and supports that meet the needs of this population.
With regards to eating disorders, we found that youth with 1 or both ASD and GD diagnoses were significantly more likely than youth with neither diagnosis to have an eating disorder diagnosis. These findings support current research showing the increased prevalence of disordered eating behaviors among youth with either ASD or GD. 7 , 14 , 21 However, in our cohort, youth with cooccurring ASD and GD were not more likely to have an eating disorder compared with youth with ASD or GD alone. This contradicts the limited available research showing that transgender youth and young adults (ages 14–25 years) with ASD are more likely to report having previously received an eating disorder diagnosis compared with transgender youth without ASD. 22 One reason for this discrepancy could be that our study focused on younger youth (ages 9–18 years), who may go on to receive an eating disorder diagnosis before age 25 years. As a result, further research is needed to understand when youth with cooccurring ASD and GD may be at greatest risk for eating disorders to identify appropriate preventive interventions.
Our results for suicidality and self-harm diagnoses followed similar patterns. Youth with cooccurring ASD and GD, as well as those with only one of these diagnoses, were also more likely to have suicidality or self-harm diagnoses compared with those with neither ASD nor GD. This, too, is in line with previous research on suicidality and self-harm among populations with either ASD or GD. 7 , 13 , 16 , 17 Furthermore, although youth with a GD diagnosis or with cooccurring ASD and GD were more likely to have these diagnoses compared with youth with only an ASD diagnosis, we did not observe such differences between youth with GD only and youth with ASD and GD, suggesting that gender dysphoria may be driving these associations with suicidality and self-harm. These findings suggest the critical need for gender-affirming care services that include suicide screening tools and other preventive interventions for youth experiencing GD.
Our study has several limitations. First, although our use of the PEDSnet database allowed us to understand mental health concerns among youth with 2 relatively uncommon diagnoses, we were still limited by small numbers in some subgroups, particularly when considering less prevalent mental health diagnoses. Similarly, we were unable to test for variation by demographic characteristics, particularly ethnicity and race and insurance status, which we have found in our previous work to be associated with a lower likelihood of cooccurring ASD and GD diagnoses. 8
We must also acknowledge potential quality and accuracy concerns when using EMR data. For example, significant barriers to receiving timely and accurate diagnoses of ASD, GD, and other mental health concerns exist. Thus, it is possible that patients were misclassified in our analysis because of undiagnosed ASD, GD, and/or mental health conditions, leading to an underestimation of their true prevalence. In addition, because PEDSnet diagnosis data are extracted from billing codes and problem lists, we did not have access to medical histories or individual clinician notes that may have documented these concerns. Furthermore, a diagnosis may not be recorded at a PEDSnet institution because of receiving care in another location, lack of provider diagnosis code placement, or the fear of stigma or discrimination should these diagnoses be documented in their records.
Furthermore, our study focused on the presence of these diagnoses in the EMR and thus should not be interpreted as ongoing access to ASD services, gender-affirming care, or mental health care. Importantly, many youth currently face significant delays in accessing timely and effective mental health care, and this can be especially true for youth with GD and ASD. 22 , 35 The combination of social and communication differences and stigma experienced by youth with ASD and GD may also influence their ability to seek and engage in mental health services. 36 Because of these differences, providers and families may have difficulty recognizing the severity or significance of mental health symptoms. 37 Youth with GD may also be hesitant to disclose their identity to providers because of previous negative experiences in health care settings. 38 , – 40 Additionally, mental health evaluations have been, and continue to be, used to determine eligibility for access to gender-affirming medical care, which may make youth less likely to disclose their mental health concerns. 34 , 41 It is therefore important to continue developing research to understand the intersection of ASD, GD, and mental health concerns, as well as variations in access to care, to design and provide services that meet the mental health needs of youth with cooccurring ASD and GD.
Youth with cooccurring ASD and GD diagnoses are more likely to be diagnosed with mental health concerns compared with their peers, particularly anxiety and depression. In addition to guiding future research, the results of this project highlight the clear need for collaborations between ASD and gender-affirming care providers to provide more robust mental health services that are both developmentally appropriate and gender-affirming for youth with cooccurring ASD and GD.
The research reported in this publication was conducted using PEDSnet, A National Pediatric Learning Health System, and includes data from the following PEDSnet institutions: Children’s Hospital Colorado, Children’s Hospital of Philadelphia, Cincinnati Children’s Hospital Medical Center, Nationwide Children’s Hospital, Nemours Children’s Health, Seattle Children’s Hospital, Stanford Children’s Health, and Ann and Robert H. Lurie Children’s Hospital of Chicago. Thank you to the PEDSnet Data Coordinating Center for providing us with these data. Thank you to Daksha Ranade and Victoria Soucek for their assistance in accessing and preparing the data for analysis.:
Dr Kahn conceptualized and designed the study, drafted the initial manuscript, and reviewed and revised the manuscript; Drs Sequeira, Garrison, Orlich, Christakis, and Richardson and Mx Reyes assisted in conceptualizing the study and reviewed and revised the manuscript; Drs Aye, Conard, Dowshen, Kazak, Nahata, Nokoff, and Voss critically reviewed and revised the manuscript; and all authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
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