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. 2025 Mar;38(2):e70051.
doi: 10.1111/jar.70051.

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

Anna Hryniewiecka-Jaworska  1 , Emily Sloper  2 , Hayley Archer  2 , Angus John Clarke  1   2
Affiliations

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

Anna Hryniewiecka-Jaworska et al. J Appl Res Intellect Disabil. 2025 Mar.

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.

Keywords: Rett syndrome; health care; middle‐aged; natural history; social care.

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Conflict of interest statement

The authors declare no Conflicts of Interest.

Figures

FIGURE 1
FIGURE 1
Ages of patients at the time of the last completed survey health questionnaire (years).
FIGURE 2
FIGURE 2
Each patient's ‘simplified severity score’ in each decade of life (Smeets et al. 2009).
FIGURE 3
FIGURE 3
Expressive (A) and receptive (B) communication ability at the final data collection point for all women with RTT.
See this image and copyright information in PMC

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