Autism Spectrum Disorder

According to from the most recent report from the Centers for Disease Control and Prevention’s (CDC) Autism and Developmental Disabilities Monitoring Network, autism spectrum disorder (autism) affects approximately 1 in 31 children. Autism is a neurodevelopmental disorder that impacts development and daily functioning in the two main areas outlined below.

Differences in social communication and social interaction, including skill deficits in all the following areas:
- Social-emotional reciprocity: difficulty with back-and-forth conversations, sharing interests and emotions, initiating and responding appropriately to social engagement with others
- Nonverbal communication: differences in the use of eye contact, facial expression and gesture use, as well as the ability to understand nonverbal cues from others
- Developing and keeping developmentally appropriate relationships: challenges initiating and sustaining peer relationships, difficulties understanding social norms and expectations
Restricted and repetitive interests and behaviors, including at least two of the following areas:
- Stereotyped speech, repetitive motor movements, repetitive or routine-based play or behaviors
- Behavior rigidity, such as difficulties with unexpected changes, insistence on things being done a certain way, inflexible adherence to rules or routines
- Restricted interests with elevated intensity or focus, or unusual interests for one’s developmental age
- Sensory differences, such as aversions to certain sensory stimuli (such as lights, sounds, odors), or unexpected sensory seeking behavior, such as watching things spin, or seeking out deep pressure, or certain textures

Due to infinite possible combinations of skill differences and behavioral patterns, individuals with autism comprise an extremely heterogeneous group, which is summarized in a famous quote by Stephen Shore, MD: “If you’ve met one person with autism, you’ve met one person with autism.” 

Screening and diagnosis of autism

Trained healthcare professionals can reliably diagnose autism spectrum disorder in children as young as age 2, although most are not diagnosed until after age 4. Screening and diagnosis of autism has progressed significantly in recent decades, particularly through the efforts of the CDC and the American Academy of Pediatrics (AAP). Freely available tools like the Modified Assessment for Autism in Toddlers (M-CHAT) help providers and caregivers identify young children who may benefit from more thorough evaluation, though not all children need this for a diagnosis of autism to be made. Many autistic children can be accurately identified within their primary care office, where early diagnosis can provide access to important therapies and interventions.

For children with more complicated diagnostic pictures, a comprehensive developmental evaluation may be warranted to accurately diagnose autism. These evaluations often include use of well-researched tools like the Autism Diagnostic Observation Schedule (2nd Ed; ADOS-2), the results of which must be considered along with other important information obtained through additional symptom-focused questionnaires and developmental interviews that are conducted by trained professionals.

Resources made available to pediatricians and families through the AAP’s Autism Initiatives can increase the awareness and developmental monitoring that is critical to improving outcomes for youth with autism. And when a diagnosis of autism is made, the toolkits available through Autism Speaks (search “toolkits”) can be a helpful resource for families.

Despite advancements in detection of autism overall, there are still disparities in the rate of recognition and diagnosis in ethnic and racial minorities, as well as in females, which results in missed and delayed diagnoses for individuals in these groups. For example, autism is diagnosed more frequently in boys than in girls (4 in 100 boys and 1 in100 girls), though this is not believed to be a true difference in prevalence. Rather, differences in the symptom presentation between males and females has resulted in missed or late diagnoses for autistic females, who often tend to have better imitation, play and social motivation than their male counterparts.

When an autism diagnosis is missed or mislabeled, this can result in delayed access to appropriate care (such as females who are labeled as having “borderline personality” problems or minorities labeled with conduct or “severe emotional” disorders). Additionally, missed diagnoses or mislabeling can often lead to increased mental health concerns, such as exacerbated presentations of anxiety and depression.

Co-occurring challenges

Executive functioning abilities: In addition to the two core diagnostic criteria highlighted above, autism is also known to impact an individual’s executive functioning abilities, which may be displayed as difficulties in planning, initiating, organizing and self-monitoring their behavior in order to reach goals. Children may also have difficulties controlling their behavior due to challenges with impulse control and flexible thinking, such as accepting and shifting between ideas and activities to fit different situations.
Mental health concerns: By late childhood and adolescence, the majority of autistic youth will also experience co-occurring mental health challenges. Children and adolescents with autism experience  anxiety disorders (high fear and avoidance behavior), mood disturbances (like depression or extreme mood swings), or behavioral challenges (such as hyperactivity, problems with attention and focus, “oppositional” behaviors, aggression or self-directed harm) more often than their non-autistic peers. These co-occurring concerns can both reflect and interact with core social communication deficits (like difficulty understanding, labeling and describing emotions) and behavioral differences (such as difficulty regulating reactions to fit social norms), which results in under-recognition and lack of appropriate treatment for their mental health concerns.
Medical conditions: Understanding the behavioral difficulties and skill deficits in autism is often further complicated by numerous medical conditions that are often observed in these individuals, like neurological conditions or chronic gastrointestinal issues and sleep problems. Some of these may be related to other genetic syndromes that are associated with autism (e.g., tuberous sclerosis, Fragile X, Cornelia de Lange, and Down, Angelman and Williams syndromes).
Intellectual disability: About one-third of individuals with autism also have an intellectual disability that can impact prognosis for treatment outcomes depending on the degree of cognitive and adaptive skill impairment.

Treatment recommendations

Evidence-based treatments for autism can be reviewed in a number of scholarly articles, including this systemic review from 2021. Of the interventions with the most support are behavioral interventions, such as those using interventions based in applied behavior analysis (ABA), and other interventions that focus specifically on building skills in core deficit areas like language, social skill and self-management training.

Due to the vastness of pseudoscientific, ineffective and potentially even harmful proposed “treatments” for autism that have circulated, it is critical that practitioners guide families in making evidence-based decisions when seeking care. Reliable information available through organizations like the Association for Science in Autism Treatment are recommended, such as the article Making Sense of Autism Treatment: Weighing the Evidence.

For individuals with autism and co-occurring mental health conditions, modified cognitive behavioral interventions are also recognized as evidence-based interventions for improving understanding of emotions, emotional expression and self-monitoring of behavioral responses. Psychiatric medication management is also recommended for helping youth with autism who may be experiencing functionally impairing levels of emotional and behavioral difficulties.

Involving caregivers in treatment of autistic youth using coordinated skills training and coaching is critical for the maintenance of skills over time as well as generalization of skills across settings, which is accomplished through practice, rehearsal and compassionate support.

Finally, improving outcomes for children and adolescents with autism also involves significant care coordination among the providers involved in their care, which often includes physicians (primary care and specialists), therapists (behavioral, speech-language, occupational, mental health, etc.) and education teams.