Updated: 12/24/2021

Autism Spectrum Disorders

Review Topic
  • Snapshot
    • A 3-year-old boy is brought to his pediatrician by his mother due to abnormal behavior. She reports that he does not appear to respond to affection, does not look her in the eyes, and constantly lines up his toys. He becomes agitated when she tries to take him away from his toys or if the mother cooks a different meal for dinner. On physical examination, he does not respond to questions and is distracted by the texture of the exam-table cloth.
  • Introduction
    • Clinical definition
      • neurodevelopmental disorder that is characterized by
        • social communication and interaction deficit
        • restricted repetitive patterns of
          • behavior
          • interest
          • activities
      • autism spectrum disorders (ASD) encompasses
        • autistic disorder
        • childhood disintegrative disorder
        • pervasive developmental disorder-not otherwise specified
        • asperger disorder
  • Epidemiology
    • Demographics
      • more common in males
    • Risk factors
      • family history
    • Pathogenesis
      • unclear
      • however, brain structure, connectivity, and function abnormalities have been associated with this neurodevelopmental disorder
    • Associated conditions
      • intellectual disability and other developmental conditions (e.g., attention deficit hyperactivity disorder)
      • anxiety disorders
      • behavioral disorders
      • genetic syndromes (e.g., fragile X syndrome)
  • Presentation
    • Symptoms
      • see diagnostic criteria
  • Differential
    • Language disorder
    • Obsessive compulsive disorder
    • Rett syndrome (this occurs almost exclusively in girls)
    • Reactive attachment disorder
      • key distinguishing factors
        • associated with trauma and severe stressors in childhood
        • poor ability to form social connections with others
        • decreased positive emotions
        • volatile emotions and mood
        • like to control their own routine
    • DSM V criteria
      • social communication and social interaction deficit in many contexts such as
        • lack of social-emotional reciprocity
        • lack of nonverbal communicative behaviors
        • impairment in developing, maintaining, and understanding relationships
      • restricted and repetitive patterns of behavior, interests, or activities such as
        • motor movements that are stereotyped or repetitive (e.g., flipping objects)
        • inflexibility to change
        • restricted and fixated interests
          • these are typically with abnormal intensity or focus
        • hyper- or hyporeactivity or unusual interest in a sensory stimulus (e.g., fascination with lights)
      • these symptoms must be present in the patient's early developmental period in the absence of an organic etiology (e.g., hearing dysfunction)
      • these symptoms cannot be better explained by other conditions (e.g., intellectual developmental disorder)
  • Treatment
    • Conservative
      • behavioral and educational intervention
        • indication
          • used to increase functional independence and quality of life
    • Medical
      • psychopharmacologic agents
        • indication
          • used for targeted symptom improvement
        • example
          • maladaptive behaviors (e.g., irritability, self-injury, and tantrums)
            • aripiprazole or risperidone
  • Prognosis
    • Difficult to determine in early childhood and depends on many factors
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(M2.PD.17.4702) A 5-year-old boy is brought in by his parents for recurrent abdominal pain. The child has been taken out of class 5 times this past week for abdominal pain that resulted in him being sent home. The mother reports that her son's stools have remained unchanged during this time and are brown in color, without blood, and with normal consistency and scent. She also notes that while at home he seems to be his usual self and does not complain of any symptoms. Of note she presents to you that she has been preparing her son's lunches which consist of couscous, vegetables, fried rice, and chicken. The patient denies difficulty with producing stool and does not complain of any functional pain. The child's vitals and labs including BMP and CBC are unremarkable and within normal limits. An abdominal exam is performed and there is no tenderness upon palpation, and the abdomen is soft and non-distended. After a conversation with the child exploring his symptoms, which of the following is the next step in management for this child?

QID: 108412

Increase oral hydration and fiber intake



Check the stool for fecal red blood cells and leukocytes



Perform a stool culture



Begin treatment with ciprofloxacin



Begin cognitive behavioral therapy



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(M2.PD.15.77) A mother brings her 3-year-old son to the doctor because she is worried that he might be harming himself by constantly banging his head on the wall. He has been exhibiting this behavior for a few months. She is also worried because he has started to speak less than he used to and does not respond when his name is called. He seems aloof during playtime with other children and seems to have lost interest in most of his toys. What is the most likely diagnosis?

QID: 106890

Attention deficit hyperactivity disorder



Generalized anxiety disorder



Bipolar disorder



Obsessive-compulsive disorder



Autism spectrum disorder



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