24/10/2026
Families across Europe face the same gaps in Rett syndrome care 📄
A new study in the Orphanet Journal of Rare Diseases followed 60 caregivers in eight European countries through five-day diaries, plus 30 in depth interviews. Rett UK's Becky Jenner is one of the authors.
What they found:
🔹 88% of caregivers reported difficulty using hands, and 78% reported difficulty communicating
🔹 Needs change with age: scoliosis rises from 45% in children to 92% in adults
🔹 Caregivers of adults spend an average of 41 hours a week on emotional support alone
🔹 Care is fragmented and poorly coordinated, and the transition to adult services is a particular weak point
The authors call for joined-up, multidisciplinary care across the lifespan, with standard care frameworks across Europe.
It's great to be able to contribute in helping to put families' real experiences into the evidence base. These findings will be front of mind as we head to RettForum in Madrid next month (6–8 Nov). We are looking forward to the conversations about turning this into better, more joined-up care.
Read the open-access study: https://doi.org/10.1186/s13023-026-04651-5
Background Rett syndrome is a rare neurodevelopmental disorder associated with functional impairments that emerge in early childhood and persist throughout life. Despite improved understanding of its genetic basis and natural history, therapeutic options remain limited, and care frameworks across Eu...
