Genetics of Developmental Disorders: MECP2 Mutation
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Questions and Answers

What is the primary reason for the child being brought to the pediatrician?

  • Fever and rash
  • Seizures and tremors
  • Vomiting and diarrhea
  • Developmental regression (correct)

What is the expected growth pattern in a child with Rett syndrome?

  • Normal growth rate
  • Accelerated growth rate
  • Deceleration in head growth (correct)
  • Stunted growth

What is the significance of stereotypical hand movements in this patient?

  • Caused by a viral infection
  • Supports a diagnosis of Rett syndrome (correct)
  • Indicates developmental progress
  • Reflects normal variation in motor skills

What is the genetic basis of Rett syndrome?

<p>Mutation in the MECP2 gene (D)</p> Signup and view all the answers

What is the name of the syndrome characterized by the symptoms described in the case?

<p>Rett syndrome (D)</p> Signup and view all the answers

What is the most likely explanation for the deceleration in head growth in this patient?

<p>Increased apoptosis in the brain due to MECP2 mutation (C)</p> Signup and view all the answers

What is the likely fate of the neurons affected by the MECP2 mutation in this patient?

<p>They will undergo apoptosis leading to neuronal loss (D)</p> Signup and view all the answers

What is the primary mechanism underlying the loss of purposeful hand skills in this patient?

<p>Dysregulation of gene expression leading to neuronal dysfunction (B)</p> Signup and view all the answers

What is the expected impact of the MECP2 mutation on the patient's cognitive development?

<p>It will result in cognitive regression and loss of acquired skills (A)</p> Signup and view all the answers

What is the likely outcome of the patient's communication skills over time?

<p>They will decline and eventually become non-verbal (A)</p> Signup and view all the answers

Study Notes

Developmental Regression in a 3-year-old Girl

  • A 3-year-old girl is brought to the pediatrician due to developmental regression, having previously met developmental milestones but now showing a loss of acquired skills.
  • The child exhibits stereotypical hand movements, including wringing and washing, indicating a potential neurological disorder.
  • There is a loss of purposeful hand skills, suggesting a decline in fine motor abilities.
  • Deceleration in head growth compared to peers is a notable physical finding, indicating a possible neurodevelopmental disorder.
  • Genetic testing reveals a mutation in the MECP2 gene, a key indicator of a specific genetic disorder.
  • The combination of symptoms and genetic mutation points to a likely diagnosis of Rett syndrome.

Developmental Regression in a 3-year-old Girl

  • A 3-year-old girl is brought to the pediatrician due to developmental regression, having previously met developmental milestones but now showing a loss of acquired skills.
  • The child exhibits stereotypical hand movements, including wringing and washing, indicating a potential neurological disorder.
  • There is a loss of purposeful hand skills, suggesting a decline in fine motor abilities.
  • Deceleration in head growth compared to peers is a notable physical finding, indicating a possible neurodevelopmental disorder.
  • Genetic testing reveals a mutation in the MECP2 gene, a key indicator of a specific genetic disorder.
  • The combination of symptoms and genetic mutation points to a likely diagnosis of Rett syndrome.

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Description

A 3-year-old girl's developmental regression is investigated, revealing a mutation in the MECP2 gene. Identify the likely diagnosis. This quiz covers genetic disorders affecting child development.

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