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Original research
Determinants of quality of life in Rett syndrome: new findings on associations with genotype
  1. Jonathan Mendoza1,
  2. Jenny Downs1,2,
  3. Kingsley Wong1,
  4. Helen Leonard1
  1. 1Telethon Kids Institute, The University of Western Australia, Nedlands, Western Australia, Australia
  2. 2School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia
  1. Correspondence to Dr Jenny Downs, Telethon Kids Institute, The University of Western Australia, Nedlands, WA 6009, Australia; jenny.downs{at}telethonkids.org.au

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.

  • genotype
  • movement disorders
  • nervous system diseases
  • phenotype
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Footnotes

  • Contributors JM was responsible for the analysis and interpretation of data, drafting the work and revising it critically for important intellectual content. JD was responsible for the conception and design of the work, analysis and interpretation of data, drafting the work and revising it critically for important intellectual content. KW was responsible for analysis and interpretation of data and revising it critically for important intellectual content. HL was responsible for acquisition and interpretation of data, drafting the work and revising it critically for important intellectual content. JD is responsible for the overall content as guarantor.

  • Funding Funding and support for this project was provided by Rettsyndrome.org (previously known as the International Rett Syndrome Foundation) and the National Health and Medical Research Council (#1103745, #1103746). HL is supported by an Australian National Health & Medical Research Council Senior Research Fellowship (APP1117105).

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Ethics approval Ethics approval was provided by The University of Western Australia Human Research Ethics Committee (OHRP Assurance Number: FWA00003534; Study Approval Number RA/4/1/7449).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement Data are available on reasonable request. Deidentified data are available on reasonable request subject to ethics approval from the corresponding author.

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