You are here

Article Text

Article menu
Download PDFPDF
Genotype-phenotype correlations
Original research
Genotype and sleep independently predict mental health in Rett syndrome: an observational study
  1. Cayla Kay1,
  2. Helen Leonard2,
  3. Jeremy Smith1,
  4. Kingsley Wong2,
  5. Jenny Downs2,3
  1. 1 School of Human Sciences, The University of Western Australia, Perth, Western Australia, Australia
  2. 2 Telethon Kids Institute, The University of Western Australia, Nedlands, Western Australia, Australia
  3. 3 Curtin School of Allied Healt, Curtin University, Perth, Western Australia, Australia
  1. Correspondence to Dr Jenny Downs, The University of Western Australia, Perth, WA 6009, Australia; jenny.downs{at}telethonkids.org.au

Abstract

Background Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.

Methods The International Rett Syndrome Database, InterRett, was the data source for this observational study. Associations between genotype, functional abilities, comorbidities, anxiety and depression were estimated with univariate and multivariate regression models. An additional regression model for anxiety included use of an anxiety medication as a predictor variable.

Results The sample included 210 individuals aged 6–51 years of whom 54 (25.7%) were on psychotropic medication for anxiety or depression. Individuals with the p.Arg294* variant had the highest anxiety scores, as did those with insomnia or excessive daytime sleepiness, irrespective of anxiety medication use. Individuals with the p.Arg306Cys variant had the lowest depression scores, as did those with insomnia or excessive daytime sleepiness.

Conclusion Findings indicated that genotype and sleep have implications for mental health in Rett syndrome, suggesting that anticipatory guidance and proactive management of poor sleep could improve mental health. More research is needed to understand the effects of psychometric medications, which cannot be inferred from this cross-sectional study.

  • Genotype
  • Mental Disorders
  • Movement Disorders
  • Population Characteristics

Data availability statement

Data are available upon reasonable request and with appropriate HREC approval.

https://doi.org/10.1136/jmg-2022-108905

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Data availability statement

    Data are available upon reasonable request and with appropriate HREC approval.

    View Full Text

    Footnotes

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

    • Funding Funding and support for this project were provided by Rettsyndrome.org (previously known as the International Rett Syndrome Foundation). HL was supported by an Australian National Health & Medical Research Council Senior Research Fellowship (APP1117105). JD is supported by a Fellowship from the Stan Perron Charitable Foundation.

    • Competing interests None declared.

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