Article

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. 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.

Langue : ANGLAIS