Middle-Aged Women With Rett Syndrome: Longitudinal Profile From the British Isles Rett Syndrome Survey and Suggestions for Care.
Anna Hryniewiecka-Jaworska, Emily Sloper, Hayley Archer and 1 others
PMID 40194792WHAT IT FOUND
Middle-aged women with Rett syndrome usually had severity scores of 9 or below that stayed fairly stable over decades, but some lost walking, speech or hand use later.
Hand stereotypies and sleep problems were often less severe in later life.
Key findings
01Severity scores stayed below 9 for 19 women in all decades, and 24 women had a calculated score of 9 or below.
02Nine women still walking in their 40s lost walking during their 40s or 50s.
03Twenty-four of 29 women with data could use facial expressions, and 23 women maintained good eye contact.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
The data were collected retrospectively and relied on parent, carer or clinician recall, so details may be incomplete or biased. The survey could not update records every 5 years because funding reduced and later stopped, and patients were not clinically reviewed in each decade. The Simplified Severity Score may not have captured all symptoms or all health decline. Only 30 women were included, and the cohort was limited to women known to the survey with at least two data points. Not all women had molecular confirmation; some had clinical diagnosis only, and an alternative diagnosis was possible in a few. The group may over-represent milder survivors, because mortality was higher and older women with better speech may have been missed or not diagnosed. The care recommendations are author suggestions, not tested interventions.
Declared interests
No specific funding was available for the study, and the authors declared no conflicts of interest.
The easy way to misread this
Do not read the care suggestions as tested treatments. This was a retrospective survey of 30 women, and it did not test whether mobility exercise, hand separation, seating changes or feeding advice improve outcomes.