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dc.contributor.authorMendoza, J.
dc.contributor.authorDowns, Jennepher
dc.contributor.authorWong, K.
dc.contributor.authorLeonard, H.
dc.date.accessioned2021-12-11T08:45:07Z
dc.date.available2021-12-11T08:45:07Z
dc.date.issued2021
dc.identifier.citationMendoza, J. and Downs, J. and Wong, K. and Leonard, H. 2021. Determinants of quality of life in Rett syndrome: New findings on associations with genotype. Journal of Medical Genetics. 58 (9): pp. 637-644.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/86907
dc.identifier.doi10.1136/jmedgenet-2020-107120
dc.description.abstract

Background: Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.

Methods: The International Rett Syndrome Database, InterRett, was used as a sampling frame for this observational study. Information was collected to describe functional abilities (walking and feeding), health (Sleep Disorder Scale for Children, the Rett Syndrome Behavioural Questionnaire), parental health (12-item Short Form Health Survey) sociodemographic factors (parental employment and education) and quality of life (Quality of Life Inventory-Disability) for 210 individuals with Rett syndrome. Univariate and multivariate regressions were used to analyse the relationships between the independent variables and quality of life.

Results: Compared with individuals with the p.Arg270∗ mutation, those with the p.Arg294∗ mutation type had the poorest quality of life (coeff -12.81, 95% CI -23.49 to 2.12), despite this being recognised as a clinically milder genotype. Overall better walking and feeding skills and seizure parameters were more associated with better quality of life and poor sleep and behavioural difficulties with poorer quality of life.

Conclusions: These findings suggest that genotype, functioning and health each have implications for quality of life and should be considered when counselling families and planning clinical and support management strategies.

dc.languageEnglish
dc.publisherBMJ PUBLISHING GROUP
dc.relation.sponsoredbyhttp://purl.org/au-research/grants/nhmrc/1103745
dc.relation.sponsoredbyhttp://purl.org/au-research/grants/nhmrc/1103746
dc.relation.sponsoredbyhttp://purl.org/au-research/grants/nhmrc/1117105
dc.subjectScience & Technology
dc.subjectLife Sciences & Biomedicine
dc.subjectGenetics & Heredity
dc.subjectgenotype
dc.subjectmovement disorders
dc.subjectnervous system diseases
dc.subjectphenotype
dc.subjectSLEEP DISTURBANCES
dc.subjectEPILEPSY
dc.subjectCHILDREN
dc.subjectHEALTH
dc.subjectQUESTIONNAIRE
dc.subjectCONSTRUCTION
dc.subjectCHILDHOOD
dc.subjectPHENOTYPE
dc.subjectFRAMEWORK
dc.subjectSEVERITY
dc.titleDeterminants of quality of life in Rett syndrome: New findings on associations with genotype
dc.typeJournal Article
dcterms.source.volume58
dcterms.source.number9
dcterms.source.startPage637
dcterms.source.endPage644
dcterms.source.issn0022-2593
dcterms.source.titleJournal of Medical Genetics
dc.date.updated2021-12-11T08:45:07Z
curtin.note

This article has been accepted for publication in Journal of Medical Genetics, 2021 following peer review, and the Version of Record can be accessed online at http://dx.doi.org/10.1136/jmedgenet-2020-107120.

curtin.departmentCurtin School of Allied Health
curtin.accessStatusOpen access
curtin.facultyFaculty of Health Sciences
curtin.contributor.orcidDowns, Jennepher [0000-0001-7358-9037]
dcterms.source.eissn1468-6244
curtin.contributor.scopusauthoridDowns, Jennepher [35336321200]


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