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Question

A 3-year-old boy presents with parental concerns regarding delayed development, especially speech. On observation, the clinician notes decreased eye contact, inattentiveness, unresponsive to being called and toe walking. What is the most likely diagnosis ?

The correct answer is
Autism Spectrum Disorder

Pediatric Diagnosis: Analyzing Developmental Concerns

The question describes a 3-year-old boy with several developmental issues:

  • Delayed speech development.
  • Decreased eye contact.
  • Inattentiveness.
  • Unresponsive to name.
  • Toe walking.

Differential Diagnosis for Developmental Delay

We must consider the most likely diagnosis based on the presented symptoms:

  • Attention Deficit Hyperactivity Disorder (ADHD): While inattentiveness is present, ADHD typically doesn't explain the decreased eye contact, severe speech delay, or toe walking as core features.
  • Autism Spectrum Disorder (ASD): Core symptoms of ASD include deficits in social communication and social interaction, alongside restricted, repetitive patterns of behavior. The noted symptoms—delayed speech, decreased eye contact, unresponsiveness, and toe walking (a motor stereotype)—are highly consistent with ASD.
  • Cerebral Palsy (CP): CP is primarily a motor disorder affecting movement and posture. While it can co-occur with developmental delays, the specific cluster of social communication deficits and repetitive behaviors described points away from CP being the *most likely* primary diagnosis based solely on this information.
  • Social Communication Disorder (SCD): SCD involves persistent difficulties in the social use of verbal and nonverbal communication. While the child shows social communication issues, ASD also encompasses restricted/repetitive behaviors (like toe walking), making it a more comprehensive fit for the symptom cluster.

Conclusion: Most Likely Diagnosis

The combination of impaired social interaction (decreased eye contact, unresponsiveness), communication deficits (delayed speech), and repetitive motor behaviors (toe walking) strongly suggests Autism Spectrum Disorder.

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Important Questions from Autism and Counselling

  1. Which of the following genetic causes are commonly associated with autism spectrum disorders? 

    1. Angelman syndrome 

    2. Fragile X syndrome 

    3. Tuberous sclerosis 

    4. Williams syndrome 

    Select the correct answer using the code given below.

  2. Atomoxetine is prescribed to children with Autism Spectrum Disorder to control symptoms of :
  3. A 3-year old boy is brought with complaints of staying aloof. He also has delayed speech. Rest of the developmental milestones were attained normally. The most likely diagnosis is:

  4. Which of the following drugs is NOT included in the management of Attention Deficit Hyperactivity disorder?

  5. Consider the following behavioural conditions in a child of school age :
    1. Fidgets with hands or squirms in seat
    2. Easily distracted by extraneous stimuli
    3. Often has difficulty awaiting turn
    4. Does not seem to listen when spoken to directly
    Which of the above diagnostic criteria are suggestive of Inattention (attention deficit) in a child ?
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