Global Developmental Delay: Model Clinical Case and Viva Q&A

Clinical Case of Global Developmental Delay

Patient: Emily, 3 years old

Presenting Complaint:

Parents bring Emily to the pediatric clinic with concerns about her delayed development compared to her peers.

History of Present Illness:

• Emily was born full-term after an uncomplicated pregnancy and delivery.
• Parents noticed she was slower to reach milestones from early infancy.
• At 3 years old, Emily:
  • Has a vocabulary of only about 20 words
  • Cannot form simple sentences
  • Is not toilet trained
  • Has difficulty with fine motor skills like using utensils or drawing
  • Cannot run smoothly or climb stairs without support
  • Shows limited social interaction with peers
• No history of regression in skills
• No family history of developmental disorders or genetic conditions

Physical Examination:

• Weight and height at 10th percentile
• Head circumference at 5th percentile
• Mild hypotonia noted
• No dysmorphic features
• Normal vision and hearing tests

Assessment:

Emily presents with significant delays in multiple developmental domains (language, motor, social, and adaptive skills) without regression, suggesting global developmental delay.

Plan:

1. Comprehensive developmental assessment
2. Genetic testing including chromosomal microarray
3. Metabolic screening
4. MRI of the brain
5. Referrals to speech therapy, occupational therapy, and physical therapy
6. Early intervention program enrollment
7. Follow-up in 3 months to review results and progress

Clinical Presentations of Global Developmental Delay

Clinical Presentations of Global Developmental Delay

1. Classic Global Delay:

   • Delays in all developmental domains: motor, language, cognitive, social, and adaptive skills
   • Consistent lag behind age-appropriate milestones
   • No specific etiology identified

2. Motor-Predominant Delay:

   • Significant delays in gross and fine motor skills
   • Late walking, poor coordination, difficulty with tasks requiring dexterity
   • May be associated with hypotonia or hypertonia
   • Other domains affected to a lesser extent

3. Language-Predominant Delay:

   • Marked delays in receptive and/or expressive language
   • Limited vocabulary, poor sentence formation, difficulty following instructions
   • May be associated with hearing impairment or autism spectrum disorder

4. Cognitive-Predominant Delay:

   • Significant delays in problem-solving, reasoning, and learning
   • Difficulty with age-appropriate puzzles, games, and academic tasks
   • May be associated with genetic syndromes or metabolic disorders

5. Social-Adaptive Predominant Delay:

   • Marked delays in social interaction and adaptive skills
   • Poor eye contact, limited peer interactions, difficulty with self-care tasks
   • May overlap with features of autism spectrum disorder

6. Syndromic Presentation:

   • Global developmental delay associated with specific genetic syndromes
   • May include dysmorphic features, congenital anomalies, or systemic involvement
   • Examples: Down syndrome, Fragile X syndrome, Rett syndrome

7. Metabolic Disorder-Associated Delay:

   • Developmental delays accompanied by metabolic abnormalities
   • May include failure to thrive, organomegaly, or episodic decompensation
   • Examples: Phenylketonuria, mitochondrial disorders

8. Neurological Disorder-Associated Delay:

   • Delays associated with structural brain abnormalities or neurological conditions
   • May present with seizures, abnormal muscle tone, or microcephaly
   • Examples: Cerebral palsy, neural tube defects

9. Environmentally-Induced Delay:

   • Developmental delays due to severe environmental deprivation or toxin exposure
   • May improve with environmental enrichment and supportive interventions
   • Examples: Fetal alcohol spectrum disorders, severe neglect

10. Regressive Developmental Delay:

    • Initial normal development followed by loss of previously acquired skills
    • May be associated with neurodegenerative disorders or epileptic encephalopathies
    • Requires urgent evaluation to identify potentially treatable causes

Knowledge Check: Question and Answers for Medical Students & Professionals

This interactive quiz component covers essential viva questions and answers. It includes 30 high-yield viva questions with detailed answers.

Question 1 of 30

Disclaimer

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