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Identifying undiagnosed adults with Rett syndrome: Procedure and clinical implications (pp. 125-133) $45.00
Authors:  Meir Lotan, Cochavit Elefant, and Joav Merrick
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 in 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. 


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Identifying undiagnosed adults with Rett syndrome: Procedure and clinical implications (pp. 125-133)