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 We analysed the medical records and molecular data of women aged ≥18 years with a diagnosis of classic Rett syndrome and/or pathogenic variants in MECP2, CDKL5 and FOXG1, 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.

Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition / A. Peron, M.P. Canevini, F. Ghelma, R. Arancio, M.N. Savini, A. Vignoli. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - 59:1(2022 Jan), pp. 39-45. [10.1136/jmedgenet-2020-107333]

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

A. Peron
Primo
;
M.P. Canevini;F. Ghelma;A. Vignoli
Ultimo
2022

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 We analysed the medical records and molecular data of women aged ≥18 years with a diagnosis of classic Rett syndrome and/or pathogenic variants in MECP2, CDKL5 and FOXG1, 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.
adolescent medicine; and services; child health; genetics; health care facilities; manpower; medical
Settore MED/03 - Genetica Medica
Settore MED/39 - Neuropsichiatria Infantile
gen-2022
26-ott-2020
Article (author)
File in questo prodotto:
File Dimensione Formato  
Peron et al 2020 phenotypes of adult patients with Rett syndrome.pdf

accesso aperto

Descrizione: online first
Tipologia: Publisher's version/PDF
Dimensione 290.07 kB
Formato Adobe PDF
290.07 kB Adobe PDF Visualizza/Apri
39.full.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 301.86 kB
Formato Adobe PDF
301.86 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/779364
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 8
  • ???jsp.display-item.citation.isi??? 7
social impact