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

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 car...

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Autores principales: Peron, Angela, Canevini, Maria Paola, Ghelma, Filippo, Arancio, Rosangela, Savini, Miriam Nella, Vignoli, Aglaia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8685662/
https://www.ncbi.nlm.nih.gov/pubmed/33106377
http://dx.doi.org/10.1136/jmedgenet-2020-107333
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author Peron, Angela
Canevini, Maria Paola
Ghelma, Filippo
Arancio, Rosangela
Savini, Miriam Nella
Vignoli, Aglaia
author_facet Peron, Angela
Canevini, Maria Paola
Ghelma, Filippo
Arancio, Rosangela
Savini, Miriam Nella
Vignoli, Aglaia
author_sort Peron, Angela
collection PubMed
description 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.
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spelling pubmed-86856622022-01-04 Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition Peron, Angela Canevini, Maria Paola Ghelma, Filippo Arancio, Rosangela Savini, Miriam Nella Vignoli, Aglaia J Med Genet Phenotypes 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. BMJ Publishing Group 2022-01 2020-10-26 /pmc/articles/PMC8685662/ /pubmed/33106377 http://dx.doi.org/10.1136/jmedgenet-2020-107333 Text en © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) .
spellingShingle Phenotypes
Peron, Angela
Canevini, Maria Paola
Ghelma, Filippo
Arancio, Rosangela
Savini, Miriam Nella
Vignoli, Aglaia
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition
title Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition
title_full Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition
title_fullStr Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition
title_full_unstemmed Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition
title_short Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition
title_sort phenotypes in adult patients with rett syndrome: results of a 13-year experience and insights into healthcare transition
topic Phenotypes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8685662/
https://www.ncbi.nlm.nih.gov/pubmed/33106377
http://dx.doi.org/10.1136/jmedgenet-2020-107333
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