Functional abilities in aging women with Rett syndrome – the Danish cohort

Abstract

Rett 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 position without support. There was profound difficulties communicating, but 85.1% of the women could either consistently point with their hand or eyes to things of their interest.

Conclusions: Women with RTT are very dependent on caregivers who maintain and rehabilitate their functional abilities. They can often walk short distances unassisted, but do have trouble transferring and thus getting up from a chair on their own. They have severe problems communicating and they often perform subtle signs that can be difficult to recognize.

Implications for rehabilitation

• 3/4 of aging RTT women are household ambulators – daily training of motor functions and focus on assisting the initiation of movements are needed lifelong to maintain walking ability and participation in daily activities

• More than half of aging women with RTT can grab on to things – persons with hand function should be motivated to use this ability in the context of eating

• Communication is a difficult task especially for the aging RTT women – Communicative signs, their meaning and how to react to them should be written down for every woman in an easy accessible way to all caregivers

• The majority of aging RTT women can point out things of interest – they should be given the opportunity to participate in choice making

Keywords:

• Aging
• communication
• functional ability
• hand function
• intellectual disability
• MECP2; methyl CpG binding protein 2
• Rett syndrome

Acknowledgements

We thank the women with Rett syndrome for participating in this study. We also thank their families and caregivers who took time off to help with the visits and making the women feel comfortable and safe when meeting our Team.

Disclosure statement

There were no sources of funding or interests to declare.