Functional status, medical impairments, and rehabilitation resources in 84females with Rett syndrome: a snapshot across the world from the parental perspective

Citation
H. Leonard et al., Functional status, medical impairments, and rehabilitation resources in 84females with Rett syndrome: a snapshot across the world from the parental perspective, DISABIL REH, 23(3-4), 2001, pp. 107-117
Citations number
37
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Rehabilitation
Journal title
DISABILITY AND REHABILITATION
ISSN journal
0963-8288 → ACNP
Volume
23
Issue
3-4
Year of publication
2001
Pages
107 - 117
Database
ISI
SICI code
0963-8288(200102/03)23:3-4<107:FSMIAR>2.0.ZU;2-K
Abstract
Purpose: Rett syndrome is a neurological disorder almost exclusively affect ing females. Information on its genetic basis has recently become available . However there is little information on the burden and impact of this diso rder on the family despite the apparent variability in phenotype. The purpo se of this study was to obtain information on the burden and impact of Rett syndrome by examining the functional abilities, medical needs and use of m edical, therapy and accommodation services in the sample. Method: We used the internet to access an opportunistic sample of parents o f 86 females with Rett syndrome. Data on functional status (using the Wee F IM in questionnaire format) morbidity patterns and use of services were col lected. Results: The response indicated that the instrument used would be appropria te for tracking these parameters in a population-based cohort. Subjects wit h Rett syndrome in this pilot sample were completely or partially dependent in all functional domains and significantly more so than children with Dow n syndrome. Conclusion: The complexity of dependency with need for quality medical surv eillance throughout adolescence and adulthood requires accessible centres o f excellence linking families and skilled professionals. We plan to use thi s instrument to obtain a more comprehensive profile of the health, function ing and service use of a total population of children with Rett syndrome.