Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome
Except for associations with sleep, the RSBQ measures the behavioural phenotype rather than clinical severity in RTT, as traditionally conceptualised in terms of functional abilities and comorbidities. When designing clinical trials, the RSBQ needs to be complemented by other outcome measures to assess specific core functions and associated comorbidities in RTT.
Authors
- Kingsley Wong (ORCID: https://orcid.org/0000-0001-5178-6080)
- Jenny Downs (ORCID: https://orcid.org/0000-0001-7358-9037)
- Helen Leonard (ORCID: https://orcid.org/0000-0001-6405-5834)
Institutions
- The Kids Research Institute Australia (AU)
- The University of Western Australia (AU)
- Curtin University (AU)
Publication Details
- Journal
- Journal of Neurodevelopmental Disorders
- Published
- 2024-10-25
- DOI
- https://doi.org/10.1186/s11689-024-09575-4
- Citations
- 10
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 5.50
Funders
- ACADIA Pharmaceuticals
- Stan Perron Charitable Foundation