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Zorluk: KolayChildhood and Neurodevelopmental Disorders

A 3-year-old boy is brought to the clinic by his parents due to concerns about his speech and behavior. He has a vocabulary of only 5 to 10 words and does not use two-word phrases. The parents report that he rarely makes eye contact and does not point to objects to share interest. He prefers to play alone and spends hours lining up his toy cars in a specific order. If the cars are moved by someone else, he becomes extremely agitated and cries inconsolably. His motor development is age-appropriate; he runs well, walks up stairs, and feeds himself with a spoon. A recent audiometry evaluation showed normal hearing. Which of the following is the most likely diagnosis?

  1. A
    Social (pragmatic) communication disorder
  2. B
    Normal developmental variation
  3. Autism spectrum disorderCevap
  4. D
    Childhood-onset schizophrenia
  5. E
    Global developmental delay

Cevap

Autism spectrum disorder
The correct answer is autism spectrum disorder because the patient clearly demonstrates the two mandatory diagnostic domains: (1) deficits in social communication and social interaction (evidenced by severely delayed speech, lack of eye contact, and failure to point or share interest), and (2) restricted, repetitive patterns of behavior (evidenced by lining up toy cars and exhibiting extreme distress when the routine is disrupted). The presentation in early childhood and the functional impairment further support this diagnosis.

Adım Adım Çözüm

1
Evaluate the patient's language and social milestones.
The patient has significantly delayed speech for a 3-year-old (normal is >200 words and short sentences) and lacks joint attention (no pointing or eye contact).
This identifies core deficits in social communication and interaction.
2
Analyze the patient's behavior and play patterns.
The patient spends hours lining up toys and exhibits extreme distress with minor changes in routine.
This identifies the presence of restricted, repetitive patterns of behavior.
3
Rule out alternative causes for the presentation.
Hearing is normal (ruling out deafness as a cause for speech delay) and motor milestones are intact (ruling out global developmental delay).
Ensures the symptoms are not better explained by other developmental or physical anomalies.
4
Synthesize the clinical findings.
The combination of social communication deficits and restricted, repetitive behaviors confirms the diagnosis.
These represent the two core diagnostic domains required for autism spectrum disorder.

Anahtar Kavram

The diagnosis of autism spectrum disorder (ASD) requires two core features: deficits in social communication and interaction, and the presence of restricted, repetitive behaviors, interests, or activities.
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