Developmental Paediatrics

Question 1

Answer 1

Answer: MeCP2

• MeCP2 mutation = Rett
• TSC1 mutation = tuberous sclerosis
  
  • Seizures, ash leaf, shagreen patch, adenoma sebaceum, harmatomas, rhabdomyomas, infantile spasms
• DHCR7 mutation= Smith Lemli Opitz syndrome
  
  • Slow growth, microcephaly, mental retardation, cleft PALATE, heart defects, fused 2nd + 3rd toe, extra fingers + toes, underdeveloped external genitals in males
  • Caused by a deficiency in 7-dehydrocholesterol reductase results in abnormal cholesterol metabolism
  • AR disorder
• UBE3A deletion = Angelman syndrome
  
  • ​UBE3A deletion on chromosome 15
  • 4 ways this can occur
    
    • Deletion positive 70%
    • Mutation 11%
    • Imprinting centre defect 6%
    • Paternal uniparental disomy 3%

Question 2

At what age should a child be able to shake a ratte and make a sound?

Answer 2

6-9 months

Question 3

At what age will kids be able to find a toy that it is sees being hidden under a blanket

Answer 3

9 months

Question 4

Answer 4

Language evaluation

Question 6

Answer 6

Functional speech