Rett syndrome: Natural history and underlying disease mechanisms

Research output: Contribution to journalArticle

Abstract

Rett syndrome (RS) is a neurological disorder that mainly, and possibly exclusively, affects girls. Diagnosis continues to be based upon a consistent constellation of clinical features observed in all of the patients worldwide. A biological marker has not been identified. In spite of this serious limitation, it is generally agreed that RS is a distinct entity and that it is genetically determined. Although it is associated with loss of function between infancy and the fifth year of life, its course becomes relatively static thereafter, setting it apart from most of the genetic neurodegenerative disorders of childhood. Neuropathological and neurochemical studies call attention to RS as a neurodevelopmental disorder of infancy resulting in failed brain growth. Clarification of its pathogenesis may provide new insight into normal brain development.

Original languageEnglish (US)
Pages (from-to)14-17
Number of pages4
JournalEuropean Child and Adolescent Psychiatry
Volume6
Issue numberSUPPL. 1
StatePublished - 1997

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Rett Syndrome
Natural History
Inborn Genetic Diseases
Brain
Nervous System Diseases
Neurodegenerative Diseases
Biomarkers
Growth

Keywords

  • Microcephaly
  • Neurodevelopmental disorder
  • Rett syndrome
  • Seizures
  • Stereotyped behaviors

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Developmental and Educational Psychology

Cite this

Rett syndrome : Natural history and underlying disease mechanisms. / Naidu, Sakkubai.

In: European Child and Adolescent Psychiatry, Vol. 6, No. SUPPL. 1, 1997, p. 14-17.

Research output: Contribution to journalArticle

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