Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of medical genetics. Part A - 1 Mar 2016

Epstein Amy, Leonard Helen, Davis Elise, Williams Katrina, Reddihough Dinah, Murphy Nada, Whitehouse Andrew, Downs Jenny

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Activities of Daily Living
Share to Communication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Health Status

Share to Methyl-CpG-Binding Protein 2

Share to Pain Measurement

Share to Rett Syndrome

Share to Walking

Source

Identifiers

PMID: 26686505
DOI: 10.1002/ajmg.a.37500

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods.PMID 26686505Read ↗

Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families.Semantic proximity Read ↗

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis.Semantic proximity Read ↗

Content validity, face validity and comprehensiveness of generic quality-of-life measures in adults and children with rare genetic conditions and their carers: a think aloud qualitative studySemantic proximity Read ↗

Burden of Illness in Rett Syndrome: Initial Evaluation of a Disorder-Specific Caregiver SurveySemantic proximity Read ↗

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

Clinical severity and quality of life in children and adolescents with Rett syndrome.Semantic proximity Read ↗

Health-related quality of life and family well-being in pediatric patients with genetic conditions and their families: a scoping review protocolSemantic proximity Read ↗

Health-related quality of life in individuals with syndromic autism spectrum disordersSemantic proximity Read ↗

Quality of life in adolescents and adults with CHARGE syndrome.Semantic proximity Read ↗

Instruments for the assessment of quality of life in children and adolescents with Down syndrome: A Scoping reviewSemantic proximity Read ↗

A qualitative investigation of recovery after femoral fracture in Rett syndrome.Semantic proximity Read ↗

Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.