Autism Spectrum Disorders

Background

• Autism spectrum disorders (ASD) is a continuum of neurodevelopmental disorders characterized by early-onset impairments in social communication and interaction, as well as by restricted, repetitive interests and behaviors.
• Family history and advanced parental age are risk factors for the development of ASD.
• Vaccines are not a risk factor for ASD.
• ASD may be associated with developmental, medical, or psychiatric conditions including:
  • intellectual and language disabilities, attention deficit hyperactivity disorder (ADHD), tic disorders, and motor abnormalities
  • epilepsy, gastrointestinal disorders, immune dysregulation, sleep disorders, and genetic syndromes
  • anxiety, depression, psychotic disorders, oppositional defiant disorder, eating disorders, and personality disorders
• The specific mechanisms underlying clinical symptoms is unclear. Impaired theory of mind and an impaired ability to understand the mental state of oneself and others may underlie impairments in social communication.

Evaluation

• Diagnosis is made based on a comprehensive assessment of the patient through structured interviews or observational measures, assessment of behavior in community settings (including interviews with teachers, and school or job performance reports), assessment of cognitive function, and medical examination to exclude alternative diagnoses and identify associated conditions.
• Diagnostic features based on Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 include:
  • deficits in social communication and interaction, such as impaired:
    • social-emotional reciprocity including verbal interaction or sharing interests
    • nonverbal communication for social interaction
    • forming, maintaining, and understanding relationships
  • restricted and repetitive behaviors, interests, or activities such as:
    • stereotyped or repetitive movements, use of objects, or speech
    • inflexibility toward change in circumstances, routines, or communication patterns
    • intense focus in narrowly defined interests
    • hyper- or hyporeactivity to sensory input
    • unusual interests in sensory characteristics of environment
• Consider electroencephalogram (EEG), genetic testing, neuroimaging, and/or metabolic profiling if clinical presentation suggests a specific abnormality.
• Screen children for ASD during regular well-child doctor visits at age 18 and 24 months using a validated screening tool, although there is insufficient evidence on the efficacy of screening children for whom no concerns of ASD have been raised by parents.

Management

• The goal of treatment is to increase functional independence and quality of life through:
  • learning and development, improved social skills, and improved communication
  • decreased disability and comorbidity
  • aid to families
• Consider various nonpharmacologic therapy modalities:
  • Parent-mediated interventions may reduce some symptoms of ASD.
  • Some therapist-delivered interventions may improve social skills and communication, but not all methods are effective.
  • Massage therapy might improve communication and reduce symptom severity in children with ASD.
• Medications may be helpful for behavior management, but there is no evidence that medication reliably improves social communication.
  • Antipsychotics such as risperidone or aripiprazole might reduce some symptoms such as significant aggression, tantrums, or self-injury in children and young adults with autism.
  • Selective serotonin reuptake inhibitors (SSRIs) do not appear beneficial in children with ASD, but small positive effects such as decreased aggression, improved obsessive compulsive symptoms, and decreased anxiety have been reported in adults.
  • Associated ADHD can be managed with stimulant medications such as methylphenidate or atomoxetine to reduce some symptoms.