Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods.

  title={Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods.},
  author={Amy Epstein and Helen Leonard and Elise Davis and Katrina Williams and Dinah Reddihough and Nada Murphy and A J O Whitehouse and Jenny Downs},
  journal={American journal of medical genetics. Part A},
  volume={170 3},
Rett syndrome is a neurodevelopmental disorder mainly affecting females and associated with a mutation on the MECP2 gene. There has been no systematic evaluation of the domains of quality of life (QOL) in Rett syndrome. The aims of this study were to explore QOL in school-aged children with Rett syndrome and compare domains with those identified in other available QOL scales. The sample comprised 21 families registered with the Australian Rett Syndrome Database whose daughter with Rett syndrome… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 1 time. VIEW TWEETS


Publications referenced by this paper.
Showing 1-10 of 45 references

Quality of life of adolescents with cerebral palsy: perspectives of adolescents and parents.

Developmental medicine and child neurology • 2009
View 5 Excerpts
Highly Influenced

Quality of life and its measurement: important principles and guidelines.

Journal of intellectual disability research : JIDR • 2005
View 5 Excerpts
Highly Influenced

Community participation: Conversations with parent-carers of young women with Rett syndrome

EM Walker, F Crawford, H. Leonard
J Intellect Dev Disabil 39:243–252. • 2014
View 1 Excerpt

Gastrointestinal dysmotility in Rett syndrome.

Journal of pediatric gastroenterology and nutrition • 2014
View 2 Excerpts