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Rett syndrome: natural history and underlying disease mechanisms

S Naidu1

  • 1Neurogenetics Unit, Kennedy Krieger Institute, Baltimore, MD 21205, USA.

European Child & Adolescent Psychiatry
|January 1, 1997
PubMed

Insights

Rett syndrome (RS) is a rare neurological disorder primarily affecting girls, characterized by developmental regression and distinct clinical features. Further research into its pathogenesis could illuminate normal brain development.

Area of Science:

  • Neurology
  • Genetics
  • Developmental Biology

Background:

  • Rett syndrome (RS) is a significant neurological disorder predominantly affecting females.
  • Current diagnosis relies on clinical features, lacking a definitive biological marker.
  • RS is recognized as a distinct, genetically determined condition.

Purpose of the Study:

  • To summarize the current understanding of Rett syndrome.
  • To highlight the neuropathological and neurochemical aspects of RS.
  • To emphasize the potential of RS research for understanding normal brain development.

Main Methods:

  • Clinical observation and diagnosis based on established criteria.
  • Review of neuropathological and neurochemical studies.
  • Genetic analysis to understand the underlying cause.

Main Results:

  • Rett syndrome presents with a consistent set of clinical features globally.
  • A biological marker for RS has not yet been identified.
  • The disorder involves a loss of function in early childhood, followed by a static phase.

Conclusions:

  • Rett syndrome is a distinct neurodevelopmental disorder of infancy characterized by impaired brain growth.
  • Understanding RS pathogenesis offers insights into typical brain development processes.
  • Further investigation is crucial for identifying biomarkers and improving diagnostic accuracy.

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