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Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers
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Childhood Neuro-developmental Disorder (Rett Syndrome): A Case Report.

S M Rahman1, G K Kundu, S Akhter

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Rett syndrome, a neurodevelopmental disorder, caused a 5.5-year-old girl to regress after 17 months. This case highlights the importance of early diagnosis for this rare condition.

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Rett syndrome is a rare neurodevelopmental disorder affecting early brain development.
  • It is characterized by normal early development followed by regression of skills.
  • The condition primarily impacts girls and is often associated with genetic mutations.

Observation:

  • A 5.5-year-old girl presented with a history of normal development until 17 months of age.
  • Following this period, she experienced developmental regression, losing acquired purposeful hand movements.
  • Stereotyped hand movements and epilepsy were observed as key clinical features.

Findings:

  • The case report details a unique presentation of Rett syndrome in a Bangladeshi child.
  • The patient exhibited classic symptoms including loss of hand skills and onset of seizures.
  • This represents the first documented case of Rett syndrome reported from Bangladesh.

Implications:

  • Increased physician awareness, particularly among pediatricians, is crucial for early Rett syndrome diagnosis.
  • Prompt diagnosis facilitates timely intervention and management strategies.
  • Reporting rare cases aids in understanding the global prevalence and presentation of Rett syndrome.