Middle-Aged Women With Rett Syndrome: Longitudinal Profile From the British Isles Rett Syndrome Survey and Suggestions for Care

IF 2.1 3区医学 Q2 PSYCHOLOGY, EDUCATIONAL

Journal of Applied Research in Intellectual Disabilities Pub Date : 2025-04-07 DOI:10.1111/jar.70051

Anna Hryniewiecka-Jaworska, Emily Sloper, Hayley Archer, Angus John Clarke

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Abstract

Background and Methods

We report historical information from longitudinal data held in the British Isles Rett Syndrome Survey (BIRSS) concerning women of at least 40 years. This information, including comments on the quality of care, has been provided by families, carers, and clinicians.

Results

Information was available on 30 women with a clinical diagnosis of Rett syndrome (RTT), of whom 24 were < 50 years. Twenty-nine women were diagnosed with classic RTT and one with atypical RTT. Of 18 women tested for MECP2 mutations, pathogenic variants were identified in 14. There was little increase in severity over time.

Conclusions

The study found that: (1) milder phenotypes were common; (2) depression may be under-recognised; (3) menopause does not seem to occur early; (4) nutrition standards from the general population will often be inapplicable; (5) multiple opportunities exist to prevent functional decline through detailed attention to the quality of the medical and social care.

Abstract Image

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背景与方法我们报告了英国雷特综合征调查（BIRSS）中关于至少 40 岁女性的纵向数据中的历史信息。这些信息包括家属、照护者和临床医生对护理质量的评价。结果我们获得了 30 名临床诊断为雷特综合征（RTT）的妇女的信息，其中 24 名妇女的年龄为 50 岁。29 名女性被诊断为典型 RTT，1 名为非典型 RTT。在接受 MECP2 基因突变检测的 18 名女性中，14 人的致病变体被确定。随着时间的推移，严重程度几乎没有增加。结论研究发现(1）较轻的表型很常见；（2）抑郁症可能未得到充分认识；（3）更年期似乎不会提前到来；（4）普通人群的营养标准往往不适用；（5）通过详细关注医疗和社会护理的质量，有多种机会预防功能衰退。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Applied Research in Intellectual Disabilities Multiple-

CiteScore

4.70

自引率

12.50%

发文量

期刊介绍： JARID is an international, peer-reviewed journal which draws together findings derived from original applied research in intellectual disabilities. The journal is an important forum for the dissemination of ideas to promote valued lifestyles for people with intellectual disabilities. It reports on research from the UK and overseas by authors from all relevant professional disciplines. It is aimed at an international, multi-disciplinary readership. Topics covered include community living, quality of life, challenging behaviour, communication, sexuality, medication, ageing, supported employment, family issues, mental health, physical health, autism, economic issues, social networks, staff stress, staff training, epidemiology and service provision.