Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition

2020/10/26 by Angela Peron, Maria Paola Canevini, Filippo Ghelma +3 · 11 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Autism #Biology #Epilepsy #Genetics #Genetics and Neurodevelopmental Disorders #MECP2 #Medicine #Neurodevelopmental disorder #Neurogenetic and Muscular Disorders Research #Neurological diseases and metabolism #Pediatrics #Phenotype #Physical therapy #Psychiatry #Rett syndrome #Scoliosis

paper · pdf · doi:10.1136/jmedgenet-2020-107333

openalex publication_date 2020/10/26 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/02

Abstract

BACKGROUND: Rett 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. METHODS: , who were in charge of our clinic. RESULTS: Of 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. CONCLUSION: The 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.

Citations

• Longevity in Rett Syndrome: Analysis of the North American Database
• The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

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