title: Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods.
abstract: 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 was aged 6-18 years. Semi-structured telephone interviews were conducted with each parent caregiver (19 mothers, 2 fathers) to investigate aspects of their daughter's life that were satisfying or challenging to her. Qualitative thematic analysis using a grounded theory framework was conducted, and emerging domains compared with those in two generic and three disability parent-report child QOL measures. Ten domains were identified: physical health, body pain, and discomfort, behavioral and emotional well-being, communication skills, movement and mobility, social connectedness, variety of activities, provision of targeted services, stability of daily routines, and the natural environment. The two latter domains were newly identified and each domain contained elements not represented in the comparison measures. Our data articulated important aspects of life beyond the genetic diagnosis. Existing QOL scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome. Our findings support the construction of a new parent-report measure to enable measurement of QOL in this group.
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.
authors.forename: Amy
authors.initials: A
authors.lastname: Epstein
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.
authors.forename: Helen
authors.initials: H
authors.lastname: Leonard
authors.affiliation: The Jack Brockhoff Child Health and Wellbeing Program, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Elise
authors.initials: E
authors.lastname: Davis
authors.affiliation: Department of Developmental Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.
authors.forename: Katrina
authors.initials: K
authors.lastname: Williams
authors.affiliation: Department of Developmental Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.
authors.forename: Dinah
authors.initials: D
authors.lastname: Reddihough
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.
authors.forename: Nada
authors.initials: N
authors.lastname: Murphy
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.
authors.forename: Andrew
authors.initials: A
authors.lastname: Whitehouse
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.|School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia.
authors.forename: Jenny
authors.initials: J
authors.lastname: Downs
mesh_terms: D000203:Activities of Daily Living / Q000523:psychology*; D000293:Adolescent; D001315:Australia; D002648:Child; D003142:Communication; D016208:Databases, Factual; D005260:Female; D015870:Gene Expression; D006304:Health Status; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009154:Mutation; D010146:Pain / Q000503:physiopathology / Q000523:psychology*; D010147:Pain Measurement; D011788:Quality of Life / Q000523:psychology*; D015518:Rett Syndrome / Q000235:genetics / Q000503:physiopathology / Q000523:psychology*; D011795:Surveys and Questionnaires; D016138:Walking / Q000502:physiology
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2
keywords: Rett syndrome; disability; parent-proxy report; qualitative research; quality of life