Undiagnosed adults with rett syndrome

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Rett syndrome (RTT) is a developmental disorder affecting mainly females, due to the origin of the affected gene on the X-chromosome. Aim: To identify undiagnosed adults with RTT living in residential centers across Israel. Population: 3,144 adult women with developmental disability residing in residential care centers for individuals with intellectual and developmental disabilities (IDD). Procedure: A national survey was conducted in all 63 residential care centers, were all participants were evaluated through observation (according to the clinical characteristics of RTT), staff interviews and medical record screening. Results: One hundred and seventy four (174) females (6.4% of all female residents) were suspected of RTT ranging in ages 12-76 years. Conclusions: Adults with RTT can be identified and clinically diagnosed by a person familiar with the characteristics of RTT. Identifying these clients will enable the clinician to suggest better care and management for this population, as well as to improve the care given today to young people diagnosed with this disorder in accordance with the prognosis of adults with RTT.

Original languageEnglish
Title of host publicationPublic Health
Subtitle of host publicationSome International Aspects
PublisherNova Science Publishers, Inc.
Pages199-210
Number of pages12
ISBN (Electronic)9781634846301
ISBN (Print)9781634846127
StatePublished - 1 Jan 2016

All Science Journal Classification (ASJC) codes

  • General Medicine

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