Making a Diagnosis of Autism Spectrum Disorder - A Closer Look

What important information have you learned from this introduction?

Developmental and Behavioral Concerns
A little girl who is upset
  • History of global development delay (delay in multiple developmental domains), particularly language delay
  • No history of regression
  • Hyperactive
  • Does not follow directions
  • Has extreme tantrums that often include self-injurious behaviors
  • Has difficulty with transitions
  • Does not play with other children at school

Temper Tantrum: ASD video icon

Medical Considerations
A caregiver with two toddler boys

Possible medical causes/contributors to current functioning

  • Normal newborn screen; passed newborn hearing screen
  • History of recurrent otitis media
  • Relevant family history: male cousin in special education

What else do you want to know?

A little girl smiling at her caregiver
  • If he had his hearing tested since the newborn screen
  • If he lets you know what he wants/needs
  • If he makes eye contact
  • If he has joint attention
    • Joint attention is shared enjoyment between two people observing an object or event. The child points to an object and looks alternatively between the object and the other person to direct their attention to the object of interest.
  • If he has “show-and-tell” behavior
    • Will he take a toy to his parents because he thinks it is interesting?
    • Will he point to an object of interest?
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Joint Attention

What is your differential diagnosis at this point?

  • Autism spectrum disorder
  • Hearing problem
  • Speech/language delay
  • Cognitive impairment/global developmental delay

What should you look for on observation and physical exam?

A little girl's pink shoes


  • If and how he interacts with you
  • If and how he interacts with his mother
  • If he makes eye contact with you
  • If and how he communicates
  • If he uses single words, phrases, or sentences
  • If he points to objects in the room
  • If he uses gestures

Physical Exam

  • Make note of growth parameters, including head circumference
  • Note if there are any dysmorphic features
  • Note any motor stereotypies, such as hand flapping, toe walking, or other unusual repetitive behaviors

What should you look for on observation and physical exam?

  • Developmental screening
  • ASD-specific screening
  • Assessment of family support mechanisms