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[Rett's syndrome: study of 15 cases].

J Campos-Castelló1, M Peral Guerra, A Riviere Gómez

  • 1Departamento de Pediatría, Hospital Universitario San Carlos, Madrid.

Anales Espanoles De Pediatria
|April 1, 1988
PubMed
Summary
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This study details 15 cases of Rett syndrome, highlighting key diagnostic criteria and neurological findings. Early dementia, loss of hand skills, and specific EEG abnormalities characterize this rare neurodevelopmental disorder.

Area of Science:

  • Neurology
  • Neurodevelopmental Disorders
  • Genetics

Context:

  • Rett syndrome is a rare neurodevelopmental disorder primarily affecting females.
  • Characterized by specific clinical features and neurological abnormalities.
  • This study examines a cohort of 15 patients meeting established diagnostic criteria.

Purpose:

  • To describe the clinical and electrophysiological characteristics of Rett syndrome.
  • To correlate findings with diagnostic criteria.
  • To identify potential underlying biological markers.

Summary:

  • The study identified 15 female patients diagnosed with Rett syndrome based on Hag-berg criteria.
  • Key features included early dementia, autistic behavior, loss of hand skills, stereotypies, decelerated head growth, and gait apraxia.

Related Experiment Videos

  • EEG revealed frequent multifocal spikes and sharp waves during sleep, with some cases showing peripheral neuropathy or non-specific fragile sites on karyotyping.

    • Impact:

    • Provides a detailed clinical and neurophysiological profile of Rett syndrome.
    • Contributes to a better understanding of the disorder's presentation and diagnostic markers.
    • Informs future research directions for Rett syndrome diagnosis and management.