Hryniewiecka-Jaworska Anna, Sloper Emily, Archer Hayley, Clarke Angus John
Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
All Wales Medical Genomics Service, Canolfan Iechyd Genomig Cymru, Cardiff Edge Business Park, Cardiff, UK.
J Appl Res Intellect Disabil. 2025 Mar;38(2):e70051. doi: 10.1111/jar.70051.
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.
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.
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.
我们报告了不列颠群岛雷特综合征调查（BIRSS）中有关至少40岁女性的纵向数据的历史信息。这些信息，包括对护理质量的评论，由家庭、护理人员和临床医生提供。
有30名临床诊断为雷特综合征（RTT）的女性的信息，其中24名年龄小于50岁。29名女性被诊断为典型RTT，1名被诊断为非典型RTT。在18名接受MECP2突变检测的女性中，14名发现了致病变异。随着时间的推移，严重程度几乎没有增加。
该研究发现：（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出现；（4）一般人群的营养标准通常不适用；（5）通过对医疗和社会护理质量的详细关注，存在多个预防功能衰退的机会。
