Functional abilities in aging women with Rett syndrome - the Danish cohort.

AbstractRett syndrome (RTT) is a neurodevelopmental disorder, which mainly affects females and results in multiple disabilities. Many clinical descriptions of the symptoms and functional abilities have been made medically, though mainly in children with RTT. Previous reports have established that even though the syndrome causes severe psychomotor disability, women with RTT can live long into adulthood.Purpose: We aim to describe what to expect from aging women with RTT regarding some of the basic functional abilities that are used in daily activities and that could have an impact on quality of life in these women.Methods: A team of two medical doctors, a physiotherapist and an educational psychological adviser, performed clinical evaluations of 27 women with RTT in Denmark above 30 years of age and confirmed MECP2 mutation.Results: We found that 63% of the women were able to walk outside their homes and only 11% were not able to walk at all. However, 67% could not transfer from sitting to standing positio...