Autism spectrum disorder diagnosis

Autism spectrum disorder is the name for a group of developmental and neurological disorder that begins early in childhood and lasts throughout a person’s life ¹. Autism spectrum disorder affects how a person acts and interacts with others, communicates, and learns. It includes what used to be known as Asperger syndrome and pervasive developmental disorders. Autism spectrum disorder is characterized by markedly impaired social interaction, impaired communication, and restricted/repetitive patterns of behavior, interests, and activities ². In addition to challenges caused by core symptoms of the disorder, maladaptive behaviors such as aggression can be associated with autism spectrum disorder and can further disrupt functioning and quality of life ³.

The Diagnostic and Statistical Manual of Mental Disorders 5th edition (DSM-5) criteria for autism spectrum disorder require enduring deficits in social communication and interaction, along with restricted patterns of behavior, interests, or activities, starting in the early developmental period and causing significant functional impairment; intellectual and language impairment may or may not be present ². According to the Centers for Disease Control and Prevention (CDC), the prevalence of autism spectrum disorder among eight-year-old children in the United States in 2016 was 1.85%, representing a 27% increase from 2012 estimates (1.45%) ⁴. The recent increase in autism spectrum disorder prevalence further underscores the need to identify effective interventions to treat and prevent aggression in adults with autism spectrum disorder. Efforts in this regard have been under way for over two decades, using a variety of research approaches.

Autism spectrum disorder diagnosis is usually made by a qualified specialist, such as a pediatrician or via a comprehensive assessment performed by a team of specialists. This may include a pediatrician, psychologist or psychiatrist and sometimes a speech pathologist. The specialists will meet and watch the child to assess his or her communication skills, ability to interact socially and general behaviors.

Diagnosing autism spectrum disorder (ASD) can be difficult, since there is no medical test, like a blood test, to diagnose the disorders. Doctors look at the child’s behavior and development to make a diagnosis.

Autism spectrum disorder can sometimes be detected at 18 months or younger. By age 2, a diagnosis by an experienced professional can be considered very reliable ⁵. However, many children do not receive a final diagnosis until much older. This delay means that children with an autism spectrum disorder might not get the help they need.

Clinicians use a set of standard tests to make a diagnosis. They will see if the child has certain behaviors and social responses.

Children can usually be diagnosed at around two, but sometimes symptoms are subtle and children are not diagnosed until they start school or even until they become adults.

The umbrella term ‘autism spectrum disorder’ (ASD) refers to a group of complex neurodevelopment disorders characterized by repetitive and characteristic patterns of behavior and difficulties with social communication and interaction. The symptoms are present from early childhood and affect daily functioning.

Autism spectrum disorder (ASD) now describes all levels of autism, from those individuals requiring support (level 1), those requiring substantial support (level 2) and those more severely affected and requiring very substantial support (level 3).

The term “spectrum” refers to the wide range of symptoms, skills, and levels of disability in functioning that can occur in people with autism spectrum disorder. Some children and adults with autism spectrum disorder are fully able to perform all activities of daily living while others require substantial support to perform basic activities. The American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders 5th edition (DSM-5) ⁶ includes Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorders not otherwise specified as part of autism spectrum disorder rather than as separate disorders. A diagnosis of autism spectrum disorder includes an assessment of intellectual disability and language impairment.

Diagnosing an autism spectrum disorder takes two steps:

1. Developmental Screening
2. Comprehensive Diagnostic Evaluation

Diagnosis in young children is often a two-stage process

Stage 1: General Developmental Screening During Well-Child Checkups

Developmental screening is a short test to tell if children are learning basic skills when they should, or if they might have delays. During developmental screening the doctor might ask the parent some questions or talk and play with the child during an exam to see how she learns, speaks, behaves, and moves. A delay in any of these areas could be a sign of a problem.

Parents’ experiences and concerns are very important in the screening process for young children. Sometimes the doctor will ask parents questions about the child’s behaviors and combine those answers with information from autism spectrum disorder screening tools, and with his or her observations of the child.

All children should be screened for developmental delays and disabilities during regular well-child doctor visits at:

• 9 months
• 18 months
• 24 or 30 months
• Additional screening might be needed if a child is at high risk for developmental problems due to preterm birth, low birth weight or other reasons.

Additional screening might be needed if a child is at high risk for autism spectrum disorder or developmental problems. Those at high risk include children who have a family member with autism spectrum disorder, have some autism spectrum disorder behaviors, have older parents, have certain genetic conditions, or who were born at a very low birth weight.

In addition, all children should be screened specifically for autism spectrum disorder (ASD) during regular well-child doctor visits at:

• 18 months
• 24 months
• Additional screening might be needed if a child is at high risk for autism spectrum disorder (ASD) (e.g., having a sister, brother or other family member with an autism spectrum disorder) or if behaviors sometimes associated with autism spectrum disorder (ASD) are present

It is important for doctors to screen all children for developmental delays, but especially to monitor those who are at a higher risk for developmental problems due to preterm birth, low birth weight, or having a brother or sister with an autism spectrum disorder (ASD).

If your child’s doctor does not routinely check your child with this type of developmental screening test, ask that it be done.

If the doctor sees any signs of a problem during this screening process, a comprehensive diagnostic second stage of evaluation is needed.

Stage 2: Comprehensive Diagnostic Evaluation

This second evaluation (Comprehensive Diagnostic Evaluation) is with a team of doctors and other health professionals who are experienced in diagnosing autism spectrum disorder.

This team may include:

• A developmental pediatrician—a doctor who has special training in child development
• A child psychologist and/or child psychiatrist—a doctor who has specialized training in brain development and behavior
• A neuropsychologist—a doctor who focuses on evaluating, diagnosing, and treating neurological, medical, and neurodevelopmental disorders
• A speech-language pathologist—a health professional who has special training in communication difficulties

The evaluation may assess:

• Cognitive level or thinking skills
• Language abilities
• Age-appropriate skills needed to complete daily activities independently, such as eating, dressing, and toileting

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

• Blood tests
• Hearing test

The outcome of the evaluation will result in a formal diagnosis and recommendations for treatment.

Changes to the diagnosis of autism spectrum disorder

In 2013, a revised version of the Diagnostic and Statistical Manual of Mental Disorders (DSM) was released ⁶. This revision changed the way autism is classified and diagnosed. Using the previous version of the DSM, people could be diagnosed with one of several separate conditions:

• Autistic disorder
• Asperger’s’ syndrome
• Pervasive developmental disorder not otherwise specified (PDD-NOS)

In the current revised version of the DSM (the DSM-5), these separate conditions have been combined into one diagnosis called “autism spectrum disorder.” Using the DSM-5, for example, people who were previously diagnosed as having Asperger’s syndrome would now be diagnosed as having autism spectrum disorder. Although the “official” diagnosis of autism spectrum disorder has changed, there is nothing wrong with continuing to use terms such as Asperger’s syndrome to describe oneself or to identify with a peer group.

Diagnosis in older children and adolescents

Autism spectrum disorder symptoms in older children and adolescents who attend school are often first recognized by parents and teachers and then evaluated by the school’s special education team. The school’s team may perform an initial evaluation and then recommend these children visit their primary health care doctor or doctors who specialize in autism spectrum disorder for additional testing.

Parents may talk with these specialists about their child’s social difficulties including problems with subtle communication. These subtle communication issues may include problems understanding tone of voice, facial expressions, or body language. Older children and adolescents may have trouble understanding figures of speech, humor, or sarcasm. Parents may also find that their child has trouble forming friendships with peers.

Diagnosis in adults

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

Adults who notice the signs and symptoms of autism spectrum disorder should talk with a doctor and ask for a referral for an autism spectrum disorder evaluation. While testing for autism spectrum disorder in adults is still being refined, adults can be referred to a neuropsychologist, psychologist, or psychiatrist who has experience with autism spectrum disorder. The expert will ask about concerns, such as:

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

Information about the adult’s developmental history will help in making an accurate diagnosis, so an autism spectrum disorder evaluation may include talking with parents or other family members.

Getting a correct diagnosis of autism spectrum disorder as an adult can help a person understand past difficulties, identify his or her strengths, and obtain the right kind of help. Studies are now underway to determine the types of services and supports that are most helpful for improving the functioning and community integration of transition-age youth and adults with autism spectrum disorder.

Autism in adulthood

• Over the next decade, an estimated 500,000 teens (50,000 each year) will enter adulthood and age out of school based autism services.
• Teens with autism receive healthcare transition services half as often as those with other special healthcare needs. Young people whose autism is coupled with associated medical problems are even less likely to receive transition support.
• Many young adults with autism do not receive any healthcare for years after they stop seeing a pediatrician.
• More than half of young adults with autism remain unemployed and unenrolled in higher education in the two years after high school. This is a lower rate than that of young adults in other disability categories, including learning disabilities, intellectual disability or speech-language impairment.
• Of the nearly 18,000 people with autism who used state-funded vocational rehabilitation programs in 2014, only 60 percent left the program with a job. Of these, 80 percent worked part-time at a median weekly rate of $160, putting them well below the poverty level.
• Nearly half of 25-year-olds with autism have never held a paying job.

Research demonstrates that job activities that encourage independence reduce autism symptoms and increase daily living skills.

Autism spectrum disorder features

Autism spectrum disorder occurs in every racial and ethnic group and across all socioeconomic levels. However, boys are significantly more likely to develop autism spectrum disorder than girls. The latest 2018 analysis from the Centers for Disease Control and Prevention estimates that 1 in 59 children has autism spectrum disorder (ASD):

• 1 in 37 boys
• 1 in 151 girls

Boys are four times more likely to be diagnosed with autism than girls.

Most children were still being diagnosed after age 4, though autism can be reliably diagnosed as early as age 2.

31% of children with autism spectrum disorder (ASD) have an intellectual disability (intelligence quotient [IQ] <70), 25% are in the borderline range (IQ 71–85), and 44% have IQ scores in the average to above average range (i.e., IQ >85).

• Autism affects all ethnic and socioeconomic groups.
• Minority groups tend to be diagnosed later and less often.

Early intervention affords the best opportunity to support healthy development and deliver benefits across the lifespan.

• Early intervention can improve learning, communication and social skills, as well as underlying brain development.
• Applied behavior analysis (ABA) and therapies based on its principles are the most researched and commonly used behavioral interventions for autism.
• Many children affected by autism also benefit from other interventions such as speech and occupational therapy.
• Developmental regression, or loss of skills, such as language and social interests, affects around 1 in 5 children who will go on to be diagnosed with autism and typically occurs between ages 1 and 3.

The American Academy of Pediatrics recommends that all children be screened for autism at their 18 and 24-month well-child checkup. If you’re not sure if your child has been screened, you can ask for a screening. You can also complete the online screener, print the results, and bring them to your healthcare provider to discuss your concerns.

If the screener shows that your child may have a greater chance of having autism – it is not a diagnosis. You should speak with your child’s healthcare provider about getting a full evaluation from a qualified medical specialist such as a neurologist, behavior pediatrician, or psychiatrist, who can provide a diagnosis.

In the meantime, you don’t need to wait for a diagnosis of autism to receive services to address related developmental delays and learning challenges. You can access these services free of charge through your state’s Early Intervention program (ages birth – 3) or your school district’s Special Education Office (age 3 – 21). Research shows that early intervention can provide the best outcomes.

Even if your child is receiving services through early intervention or your school district, and their screening indicated an increased risk for autism, you do want to get a full evaluation. That evaluation may result in a diagnosis If you get a diagnosis of autism, you want to contact your early intervention provider or school district and let them know. The diagnosis may help to provide access to autism specific treatments.

It’s important to remember that if your child does receive a diagnosis of autism. He or she is the same child as before the diagnosis. The diagnosis provides access to the services that he needs.

What is Asperger Syndrome?

Asperger syndrome, or Asperger’s, is a previously used diagnosis on the autism spectrum. In 2013, it became part of one umbrella diagnosis of autism spectrum disorder (ASD) in the Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) ⁶.

Typical to strong verbal language skills and intellectual ability distinguish Asperger syndrome from other forms of autism.

Asperger syndrome generally involves:

• Difficulty with social interactions
• Restricted interests
• Desire for sameness
• Distinctive strengths

Strengths can include:

• Remarkable focus and persistence
• Aptitude for recognizing patterns
• Attention to detail

Challenges can include:

• Hypersensitivities (to lights, sounds, tastes, etc.)
• Difficulty with the give and take of conversation
• Difficulty with nonverbal conversation skills (distance, loudness, tone, etc.)
• Uncoordinated movements, or clumsiness
• Anxiety and depression

The tendencies described above vary widely among people. Many learn to overcome their challenges by building on strengths.

Though the diagnosis of Asperger syndrome is no longer used, many previously diagnosed people still identify strongly and positively with being an “Aspie.”

Therapies and services

• Cognitive behavioral therapy can help address anxiety and other personal challenges.
• Social skills training classes can help with conversational skills and understanding social cues.
• Speech therapy can help with voice control.
• Physical and occupational therapy can improve coordination.
• Psychoactive medicines can help manage associated anxiety, depression and attention deficit and hyperactivity disorder (ADHD).

What are the signs of autism?

One of the most important things you can do as a parent or caregiver is to learn the early signs of autism and become familiar with the typical developmental milestones that your child should be reaching.

The timing and severity of autism’s early signs vary widely. Some infants show hints in their first months. In others, symptoms become obvious as late as age 2 or 3.

Not all children with autism show all the signs. Many children who don’t have autism show a few. That’s why professional evaluation is crucial.

The following “red flags” may indicate your child is at risk for an autism spectrum disorder. If your child exhibits any of the following, please don’t delay in asking your pediatrician or family doctor for an evaluation:

By 6 months

• Few or no big smiles or other warm, joyful and engaging expressions.
• Limited or no eye contact.

By 9 months

• Little or no back-and-forth sharing of sounds, smiles or other facial expressions

By 12 months

• Little or no babbling
• Little or no back-and-forth gestures such as pointing, showing, reaching or waving
• Little or no response to name.

By 16 months

• Very few or no words.

By 24 months

• Very few or no meaningful, two-word phrases (not including imitating or repeating)

At any age

• Loss of previously acquired speech, babbling or social skills
• Avoidance of eye contact
• Persistent preference for solitude
• Difficulty understanding other people’s feelings
• Delayed language development
• Persistent repetition of words or phrases (echolalia)
• Resistance to minor changes in routine or surroundings
• Restricted interests
• Repetitive behaviors (flapping, rocking, spinning, etc.)
• Unusual and intense reactions to sounds, smells, tastes, textures, lights and/or colors

If you have concerns, get your child screened and contact your healthcare provider.

The Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) can help you determine if a professional should evaluate your child. This simple online autism screen, available here (https://www.autismspeaks.org/screen-your-child), takes only a few minutes. If the answers suggest your child is at risk for autism, please consult with your child’s doctor. Likewise, if you have any other concerns about your child’s development, don’t wait. Speak to your doctor now about screening your child for autism.

What are the symptoms of autism?

Autism’s core symptoms are:

• social communication challenges and
• restricted, repetitive behaviors.

In autism, these symptoms:

• begin in early childhood (though they may go unrecognized)
• persist and
• interfere with daily living.

Specialized healthcare providers diagnose autism using a checklist of criteria in the two categories above. They also assess symptom severity. Autism’s severity scale reflects how much support a person needs for daily function.

Many people with autism have sensory issues. These typically involve over- or under-sensitivities to sounds, lights, touch, tastes, smells, pain and other stimuli.

Autism is also associated with high rates of certain physical and mental health conditions.

Social communication challenges

Children and adults with autism have difficulty with verbal and non-verbal communication. For example, they may not understand or appropriately use:

• Spoken language (around a third of people with autism are nonverbal)
• Gestures
• Eye contact
• Facial expressions
• Tone of voice
• Expressions not meant to be taken literally

Additional social challenges can include difficulty with:

• Recognizing emotions and intentions in others
• Recognizing one’s own emotions
• Expressing emotions
• Seeking emotional comfort from others
• Feeling overwhelmed in social situations
• Taking turns in conversation
• Gauging personal space (appropriate distance between people)

Restricted and repetitive behaviors

Restricted and repetitive behaviors vary greatly across the autism spectrum. They can include:

• Repetitive body movements (e.g. rocking, flapping, spinning, running back and forth)
• Repetitive motions with objects (e.g. spinning wheels, shaking sticks, flipping levers)
• Staring at lights or spinning objects
• Ritualistic behaviors (e.g. lining up objects, repeatedly touching objects in a set order)
• Narrow or extreme interests in specific topics
• Need for unvarying routine/resistance to change (e.g. same daily schedule, meal menu, clothes, route to school)

Autism spectrum disorder associated challenges

• An estimated one-third of people with autism are nonverbal.
• 31% of children with autism spectrum disorder have an intellectual disability (intelligence quotient [IQ] <70) with significant challenges in daily function, 25% are in the borderline range (IQ 71–85).
• Nearly half of those with autism wander or bolt from safety.
• Nearly two-thirds of children with autism between the ages of 6 and 15 have been bullied.
• Nearly 28 percent of 8-year-olds with autism spectrum disorder have self-injurious behaviors. Head banging, arm biting and skin scratching are among the most common.
• Drowning remains a leading cause of death for children with autism and accounts for approximately 90 percent of deaths associated with wandering or bolting by those age 14 and younger.

Autism spectrum disorder associated medical and mental health conditions

• Autism can affect the whole body.
• Attention Deficient Hyperactivity Disorder (ADHD) affects an estimated 30 to 61 percent of children with autism.
• More than half of children with autism have one or more chronic sleep problems.
• Anxiety disorders affect an estimated 11 to 40 percent of children and teens on the autism spectrum.
• Depression affects an estimated 7% of children and 26% of adults with autism.
• Children with autism are nearly eight times more likely to suffer from one or more chronic gastrointestinal disorders than are other children.
• As many as one-third of people with autism have epilepsy (seizure disorder).
• Studies suggest that schizophrenia affects between 4 and 35 percent of adults with autism. By contrast, schizophrenia affects an estimated 1.1 percent of the general population.
• Autism-associated health problems extend across the life span – from young children to senior citizens. Nearly a third (32 percent) of 2 to 5 year olds with autism are overweight and 16 percent are obese. By contrast, less than a quarter (23 percent) of 2 to 5 year olds in the general population are overweight and only 10 percent are medically obese.

Risperidone and aripiprazole, the only FDA-approved medications for autism-associated agitation and irritability.

Autism screening

A more comprehensive list of developmental screening tools is available from the American Academy of Pediatrics (https://medicalhomeinfo.aap.org/about/Pages/September-2017.aspx), including descriptions of the tools, sensitivity and specificity. The list includes general screening tools, as well as those for autism spectrum disorder.

Types of Screening Tools

There are many different developmental screening tools. This list is not exhaustive, and other tests may be available.

Selected examples of screening tools for general development and autism spectrum disorder:

• Ages and Stages Questionnaires (ASQ) (https://agesandstages.com/)
  • This is a general developmental screening tool. Parent-completed questionnaire; series of 19 age-specific questionnaires screening communication, gross motor, fine motor, problem-solving, and personal adaptive skills; results in a pass/fail score for domains.
• Communication and Symbolic Behavior Scales (CSBS) (https://firstwords.fsu.edu/pdf/checklist.pdf)
  • Standardized tool for screening of communication and symbolic abilities up to the 24-month level; the Infant Toddler Checklist is a 1-page, parent-completed screening tool.
• Parents’ Evaluation of Developmental Status (PEDS) (https://pedstest.com/)
  • This is a general developmental screening tool. Parent-interview form; screens for developmental and behavioral problems needing further evaluation; single response form used for all ages; may be useful as a surveillance tool.
• Modified Checklist for Autism in Toddlers (MCHAT) (https://mchatscreen.com/)
  • Parent-completed questionnaire designed to identify children at risk for autism in the general population.
• Screening Tool for Autism in Toddlers and Young Children (STAT) (https://vkc.mc.vanderbilt.edu/vkc/triad/stat/)
  • This is an interactive screening tool designed for children when developmental concerns are suspected. It consists of 12 activities assessing play, communication, and imitation skills and takes 20 minutes to administer.

The Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) is a screener that will ask a series of 20 questions about your child’s behavior. The results will let you know if a further evaluation may be needed. You can use the results of the screener to discuss any concerns that you may have with your child’s healthcare provider.

• You can access Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) here: https://www.autismspeaks.org/screen-your-child

Autism spectrum diagnosis

Health care providers look for certain symptoms or groups of symptoms to diagnose autism spectrum disorder (ASD). If you have concerns about your child’s development, talk to his or her health care provider right away. Your doctor then can examine the child and check for specific problems, such as autism.

During these developmental screenings, your health care provider may:

• Ask you specific questions about your child’s actions and behavior
• Ask you to fill out a questionnaire about your child’s behavior
• Speak directly to the child

Your health care provider might use a screening test specifically for autism spectrum disorder (ASD). This test might be the Checklist of Autism in Toddlers (CHAT), the Modified Checklist for Autism in Toddlers Revised (M-CHAT-R), or another test ⁷. See Autism Screening above.

There are many tools to assess autism spectrum disorder in young children, but no single tool should be used as the basis for diagnosis. Diagnostic tools usually rely on two main sources of information—parents’ or caregivers’ descriptions of their child’s development and a professional’s observation of the child’s behavior.

In some cases, the primary care provider might choose to refer the child and family to a specialist for further assessment and diagnosis. Such specialists include neurodevelopmental pediatricians, developmental-behavioral pediatricians, child neurologists, geneticists, and early intervention programs that provide assessment services.

Selected examples of diagnostic tools for autism spectrum disorder (ASD) ⁸:

• Autism Diagnosis Interview – Revised (ADI-R) ⁹
  • A clinical diagnostic instrument for assessing autism in children and adults. The instrument focuses on behavior in three main areas: reciprocal social interaction; communication and language; and restricted and repetitive, stereotyped interests and behaviors. The ADI-R is appropriate for children and adults with mental ages about 18 months and above.
• Autism Diagnostic Observation Schedule – Generic (ADOS-G) ¹⁰
  • A semi-structured, standardized assessment of social interaction, communication, play, and imaginative use of materials for individuals suspected of having autism spectrum disorder. The observational schedule consists of four 30-minute modules, each designed to be administered to different individuals according to their level of expressive language.
• Childhood Autism Rating Scale (CARS) ¹¹
  • Brief assessment suitable for use with any child over 2 years of age. CARS includes items drawn from five prominent systems for diagnosing autism; each item covers a particular characteristic, ability, or behavior.
• Gilliam Autism Rating Scale – Second Edition (GARS-2) (https://www.pearsonclinical.co.uk/Psychology/ChildMentalHealth/ChildAutisticSpectrumDisorders/GilliamAutismRatingScale-SecondEdition(GARS-2)/GilliamAutismRatingScale-SecondEdition(GARS-2).aspx)
  • Assists teachers, parents, and clinicians in identifying and diagnosing autism in individuals ages 3 through 22. It also helps estimate the severity of the child’s disorder.

In addition to the tools above, the American Psychiatric Association’s Diagnostic and Statistical Manual, Fifth Edition (DSM-5) provides standardized criteria to help diagnose autism spectrum disorder ⁶. See American Psychiatric Association’s Diagnostic and Statistical Manual, Fifth Edition (DSM-5) diagnostic criteria below.

In addition, your health care provider may also recommend that your child have a blood test to help rule out some other conditions and problems ¹².

Depending on the results of the blood test and the developmental and other screenings, your child’s health care provider will either:

• Rule out autism or
• Refer your child to a specialist in child development or another specialized field to diagnose the child with autism. The specialist will then do a number of tests to figure out whether your child has autism or another condition. These will include tests of your child’s communication abilities and observation of the child’s behaviors.

American Psychiatric Association’s Diagnostic and Statistical Manual, Fifth Edition (DSM-5) Autism Diagnostic Criteria

Because the diagnostic criteria for autism spectrum disorder (ASD) changed in 2013 (see below), ongoing research will help ensure that these screening tests are accurately identifying children who meet the new criteria for autism spectrum disorder (ASD).

The American Psychiatric Association, a professional society of psychiatrists, updated the criteria for an autism diagnosis in May 2013. The criteria are published in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) ⁶.

Diagnostic Criteria for Autism Spectrum Disorder

A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive; see text):

1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.
2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.
3. Deficits in developing, maintaining, and understand relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.

Specify current severity:

Severity is based on social communication impairments and restricted, repetitive patterns of behavior.

B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text):

1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypes, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day).
3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).
4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment (e.g. apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement).

Specify current severity:

Severity is based on social communication impairments and restricted, repetitive patterns of behavior.

• C. Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life).
• D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.
• E. These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level.

Note: Individuals with a well-established DSM-4 diagnosis of autistic disorder, Asperger’s disorder, or pervasive developmental disorder not otherwise specified should be given the diagnosis of autism spectrum disorder. Individuals who have marked deficits in social communication, but whose symptoms do not otherwise meet criteria for autism spectrum disorder, should be evaluated for social (pragmatic) communication disorder.

Specify if:

• With or without accompanying intellectual impairment
• With or without accompanying language impairment
• Associated with a known medical or genetic condition or environmental factor
• Associated with another neurodevelopmental, mental, or behavioral disorder
• With catatonia (refer to the criteria for catatonia associated with another mental disorder)

Social (Pragmatic) Communication Disorder

Diagnostic Criteria

A. Persistent difficulties in the social use of verbal and nonverbal communication as manifested by all of the following:

1. Deficits in using communication for social purposes, such as greeting and sharing information, in a manner that is appropriate for the social context.
2. Impairment of the ability to change communication to match context or the needs of the listener, such as speaking differently in a classroom than on the playground, talking differently to a child than to an adult, and avoiding use of overly formal language.
3. Difficulties following rules for conversation and storytelling, such as taking turns in conversation, rephrasing when misunderstood, and knowing how to use verbal and nonverbal signals to regulate interaction.
4. Difficulties understanding what is not explicitly stated (e.g., making inferences) and nonliteral or ambiguous meanings of language (e.g., idioms, humor, metaphors, multiple meanings that depend on the context for interpretation).

B. The deficits result in functional limitations in effective communication, social participation, social relationships, academic achievement, or occupational performance, individually or in combination.

C. The onset of the symptoms is in the early developmental period (but deficits may not become fully manifest until social communication demands exceed limited capacities).

D. The symptoms are not attributable to another medical or neurological condition or to low abilities in the domains or word structure and grammar, and are not better explained by autism spectrum disorder, intellectual disability (intellectual developmental disorder), global developmental delay, or another mental disorder.

According to the DSM-5 criteria ⁶, a person has autism spectrum disorder if he or she:

• Has problems with communication and social interactions, namely:
  • Doesn’t respond appropriately to social and emotional cues
  • Has deficits in nonverbal communication during social interactions
  • Has trouble developing friendships, keeping friends, and understanding relationships
• Has at least two types of repetitive behavioral patterns. These might include repetitive movements, inflexible routines, very restricted interests, or unusual responses to certain sensory inputs, such as the way a particular object feels.

There are various tools that specialists commonly use to diagnose autism. The only tool that currently fits the revised DSM-5 criteria is the Autism Diagnostic Observation Schedule (ADOS-2). However, it alone is not enough to make a diagnosis of autism spectrum disorder. Existing diagnostic tools are being modified to better fit the DSM-5 criteria.

During an Autism Diagnostic Observation Schedule (ADOS-2) assessment, the specialist interacts directly with your child in social and play activities. For example, the specialist will see whether your child responds to his or her name and how he or she performs in pretend play, such as with dolls. The specialist is looking for specific characteristics that are hallmarks of autism spectrum disorder. To be diagnosed with autism spectrum disorder, a child must have had symptoms since an early age ⁶.

As part of the diagnosis, the specialist will also note whether your child has ⁶:

• Any genetic disorder that is known to cause autism spectrum disorder or its symptoms, including Fragile X syndrome or Rett syndrome; your child might receive a genetic test to detect these types of disorders.
• A language disability and the level of disability
• Intellectual disability and the level of disability
• Any medical conditions common among those with autism spectrum disorder, such as seizures, anxiety, depression, or problems with the digestive system

Depending on your child’s unique symptoms and needs, the team of specialists may also want to give your child a range of other tests. If your child shows symptoms of seizures, a brain specialist, or neurologist, might use electrical sensors to observe your child’s brain activity.

Your child may need other tests to determine how best to treat the symptoms of autism spectrum disorder. A hearing specialist, or audiologist, might test your child’s hearing, which can sometimes seem poor in children with autism spectrum disorder. Other tests might include tests of muscle strength and tests of your child’s ability to control movement.

References

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2. American Psychiatric Association Diagnostic and statistical manual of mental disorders. 5th ed Arlington, VA: APA, 2013.
3. Carroll D, Hallett V, McDougle CJ, Aman MG, McCracken JT, Tierney E, Arnold LE, Sukhodolsky DG, Lecavalier L, Handen BL, Swiezy N, Johnson C, Bearss K, Vitiello B, Scahill L. Examination of aggression and self-injury in children with autism spectrum disorders and serious behavioral problems. Child Adolesc Psychiatr Clin N Am. 2014 Jan;23(1):57-72. doi: 10.1016/j.chc.2013.08.002
4. Maenner MJ, Shaw KA, Baio J; EdS1, Washington A, Patrick M, DiRienzo M, Christensen DL, Wiggins LD, Pettygrove S, Andrews JG, Lopez M, Hudson A, Baroud T, Schwenk Y, White T, Rosenberg CR, Lee LC, Harrington RA, Huston M, Hewitt A; PhD-7, Esler A, Hall-Lande J, Poynter JN, Hallas-Muchow L, Constantino JN, Fitzgerald RT, Zahorodny W, Shenouda J, Daniels JL, Warren Z, Vehorn A, Salinas A, Durkin MS, Dietz PM. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years – Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016. MMWR Surveill Summ. 2020 Mar 27;69(4):1-12. doi: 10.15585/mmwr.ss6904a1. Erratum in: MMWR Morb Mortal Wkly Rep. 2020 Apr 24;69(16):503.
5. Lord C, Risi S, DiLavore PS, Shulman C, Thurm A, Pickles A.External Autism from 2 to 9 years of age. Arch Gen Psychiatry. 2006 Jun;63(6):694-701.
6. American Psychiatric Association, DSM-5 Task Force. Diagnostic and Statistical Manual of Mental Disorders: DSM-5. 5th ed. American Psychiatric Association: Arlington, VA; 2013.
7. Myers, S. M., & Johnson, C. P.; American Academy of Pediatrics Council on Children with Disabilities. (2007). Management of children with autism spectrum disorders. Pediatrics, 120(5), 1162–1182.
8. Screening and Diagnosis of Autism Spectrum Disorder for Healthcare Providers. https://www.cdc.gov/ncbddd/autism/hcp-screening.html#DiagnosticTools
9. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994 Oct;24(5):659-85. https://www.ncbi.nlm.nih.gov/pubmed/7814313
10. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000 Jun;30(3):205-23. https://www.ncbi.nlm.nih.gov/pubmed/11055457
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12. Johnson, C. P., & Myers, S. M.; American Academy of Pediatrics Council on Children with Disabilities. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120(5), 1183–1215.