Rett syndrome. Natural history in 70 cases

S. Naidu, M. Murphy, H. W. Moser, A. Rett

Research output: Contribution to journalArticlepeer-review

Abstract

We evaluated, at our institute, 70 females with Rett syndrome between 2 1/2 to 34 1/2 years old. This provided an opportunity of observing the natural history of this condition. The evolution of a subacute encephalopathy of very early onset, maximizing in the second year of life, with slow recovery and devastating sequelae, was recognized. The hyperorality, visual auditory and tactile agnosia with aphasia and seizures resembled symptoms described in human Kluver Bucy syndrome. Over interpretation of behavioral abnormalities as seizures was common. Scoliosis was not a necessary concomitant of age. A consistent biochemical or neurophysiological abnormality was not detectable in understanding the cause and pathogenesis of this disease process. Life span appears to be unaffected though life tables have not yet been established.

Original languageEnglish (US)
Pages (from-to)61-72
Number of pages12
JournalAmerican journal of medical genetics
Volume24
Issue numberSUPPL. 1
StatePublished - Jan 1 1986

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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