ArticleJournal of medical genetics2022
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.
Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Non-epileptic paroxysmal events in Rett syndrome: A systematic review of case-based and observational evidence.Developmental medicine and child neurology · 2026Pooled it
- Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline.Journal of intellectual disability research : JIDR · 2026Article
- Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?Epilepsia open · 2025Article
- 'Mind the Gap'-A Survey on Care Gaps and Priorities for the Transition to Adult Healthcare According to Caregivers of Young People With Rare Conditions Associated With Intellectual Disability.Journal of intellectual disability research : JIDR · 2025Article
- Middle-Aged Women With Rett Syndrome: Longitudinal Profile From the British Isles Rett Syndrome Survey and Suggestions for Care.Journal of applied research in intellectual disabilities : JARID · 2025Article
- Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives.Orphanet journal of rare diseases · 2024Article
- Rett syndrome.Nature reviews. Disease primers · 2024Review
- Article
- Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.Orphanet journal of rare diseases · 2024Article
- Gastrointestinal manifestations in pediatric and adult patients with Rett syndrome: an analysis of US claims and physician survey data.Journal of comparative effectiveness research · 2024Article
- Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.Nature reviews. Neurology · 2022Review
- Sex disparate gut microbiome and metabolome perturbations precede disease progression in a mouse model of Rett syndrome.Communications biology · 2021Article
- Potential of Multiscale Astrocyte Imaging for Revealing Mechanisms Underlying Neurodevelopmental Disorders.International journal of molecular sciences · 2021Review
- Characteristics of adult individuals with Rett syndrome treated or untreated with trofinetide in the United States.Frontiers in neurologyArticle
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRett syndrome is a complex genetic disorder with age-specific manifestations and over half of the patients surviving into middle age. However, little information about the phenotype of adult individuals with Rett syndrome is available, and mainly relies on questionnaires completed by caregivers. Here, we assess the clinical manifestations and management of adult patients with Rett syndrome and present our experience in transitioning from the paediatric to the adult clinic.
methodsWe analysed the medical records and molecular data of women aged ≥18 years with a diagnosis of classic Rett syndrome and/or pathogenic variants in
resultsOf the 50 women with classic Rett syndrome, 94% had epilepsy (26% drug-resistant), 20% showed extrapyramidal signs, 40% sleep problems and 36% behavioural disorders. Eighty-six % patients exhibited gastrointestinal problems; 70% had scoliosis and 90% low bone density. Breathing irregularities were diagnosed in 60%. None of the patients had cardiac issues. CDKL5 patients experienced fewer breathing abnormalities than women with classic Rett syndrome.
conclusionThe delineation of an adult phenotype in Rett syndrome demonstrates the importance of a transitional programme and the need of a dedicated multidisciplinary team to optimise the clinical management of these patients.
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