Rett syndrome in Ireland: a demographic study
Abstract Background 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 manag...
| Những tác giả chính: | , , , , |
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| Định dạng: | Bài viết |
| Ngôn ngữ: | English |
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BMC
2024-01-01
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| Loạt: | Orphanet Journal of Rare Diseases |
| Những chủ đề: | |
| Truy cập trực tuyến: | https://doi.org/10.1186/s13023-024-03046-8 |
| _version_ | 1827326231482204160 |
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| author | Komal Zade Ciara Campbell Snow Bach Hazel Fernandes Daniela Tropea |
| author_facet | Komal Zade Ciara Campbell Snow Bach Hazel Fernandes Daniela Tropea |
| author_sort | Komal Zade |
| collection | DOAJ |
| description | Abstract Background 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. Results 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. Conclusions 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. Graphical abstract |
| first_indexed | 2024-03-07T14:41:36Z |
| format | Article |
| id | doaj.art-477ba84cb9b4473883b4d5d9546fddc1 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-07T14:41:36Z |
| publishDate | 2024-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-477ba84cb9b4473883b4d5d9546fddc12024-03-05T20:20:27ZengBMCOrphanet Journal of Rare Diseases1750-11722024-01-0119111510.1186/s13023-024-03046-8Rett syndrome in Ireland: a demographic studyKomal Zade0Ciara Campbell1Snow Bach2Hazel Fernandes3Daniela Tropea4Department of Psychiatry, School of Medicine, Trinity Centre for Health Sciences, Trinity College Dublin, St James HospitalDepartment of Psychiatry, School of Medicine, Trinity Centre for Health Sciences, Trinity College Dublin, St James HospitalDepartment of Psychiatry, School of Medicine, Trinity Centre for Health Sciences, Trinity College Dublin, St James HospitalConsultant Child and Adolescent Psychiatrist, Barnet, Enfield and Haringey Mental Health NHS TrustDepartment of Psychiatry, School of Medicine, Trinity Centre for Health Sciences, Trinity College Dublin, St James HospitalAbstract Background 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. Results 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. Conclusions 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. Graphical abstracthttps://doi.org/10.1186/s13023-024-03046-8Rett syndromeMECP2 geneNeurodevelopmental disorder |
| spellingShingle | Komal Zade Ciara Campbell Snow Bach Hazel Fernandes Daniela Tropea Rett syndrome in Ireland: a demographic study Orphanet Journal of Rare Diseases Rett syndrome MECP2 gene Neurodevelopmental disorder |
| title | Rett syndrome in Ireland: a demographic study |
| title_full | Rett syndrome in Ireland: a demographic study |
| title_fullStr | Rett syndrome in Ireland: a demographic study |
| title_full_unstemmed | Rett syndrome in Ireland: a demographic study |
| title_short | Rett syndrome in Ireland: a demographic study |
| title_sort | rett syndrome in ireland a demographic study |
| topic | Rett syndrome MECP2 gene Neurodevelopmental disorder |
| url | https://doi.org/10.1186/s13023-024-03046-8 |
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