Rett syndrome in Ireland: a demographic study

Rett syndrome in Ireland: a demographic study

Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals globally. The understanding of the neurobiology of RTT and patient management has been impro...

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Bibliographic Details
Published in:Orphanet journal of rare diseases Vol. 19; no. 1; pp. 34 - 15
Main Authors: Zade, Komal, Campbell, Ciara, Bach, Snow, Fernandes, Hazel, Tropea, Daniela
Format: Journal Article
Language:English
Published: England BioMed Central Ltd 31-01-2024
BioMed Central
BMC
Subjects:
Age
Chromosomes
Clinical trials
Convulsions & seizures
Demographic aspects
Demography
Epilepsy
Genetic aspects
Genetic screening
MECP2 gene
MeCP2 protein
Methyl-CpG binding protein
Mutation
Neural coding
Neurodevelopmental disorder
Neurodevelopmental disorders
Personal information
Phenotypes
Proteins
Questionnaires
Rett syndrome
Risk factors
Scoliosis
Seizures
Ireland
Canada
Sweden
Netherlands
United Kingdom > UK
Belgium
United States > US
Denmark
Poland
Brazil
Italy
Australia
MECP2 gene
Rett syndrome
Neurodevelopmental disorder
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Summary:Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals globally. The understanding of the neurobiology of RTT and patient management has been improved by studies that describe the demographic and clinical presentation of individuals with RTT. However, in Ireland, there is a scarcity of data regarding individuals with RTT, which impedes the ability to fully characterize the Irish RTT population. Together with the Rett Syndrome Association of Ireland (RSAI), we prepared a questionnaire to determine the characteristics of RTT individuals in Ireland. Twenty-five families have participated in the study to date, providing information about demographics, genetics, familial history, clinical features, and regression. The results show that Irish individuals with RTT have comparable presentation with respect to individuals in other countries; however, they had a better response to anti-epileptic drugs, and fewer skeletal deformities were reported. Nonetheless, seizures, involuntary movements and regression were more frequently observed in Irish individuals. One of the main findings of this study is the limited genetic information available to individuals to support the clinical diagnosis of RTT. Despite the limited sample size, this study is the first to characterize the RTT population in Ireland and highlights the importance of having a swift access to genetic testing to sharpen the characterization of the phenotype and increase the visibility of Irish individuals in the international RTT community.
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ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-024-03046-8