Article

PURPOSE: To describe the clinical features of electric powered indoor/outdoor
wheelchair (EPIOC) users with rare diseases (RD) impacting on EPIOC provision and
seating. METHOD: Retrospective review by a consultant in rehabilitation medicine
of electronic and case note records of EPIOC recipients with RDs attending a
specialist wheelchair service between June 2007 and September 2008. Data were
systematically extracted, entered into a database and analysed under three
themes; demographic, diagnostic/clinical (including comorbidity and associated
clinical features (ACFs) of the illness/disability) and wheelchair factors.
RESULTS: Fifty-four (27 male) EPIOC users, mean age 37.3 (SD 18.6, range 11-70)
with RDs were identified and reviewed a mean of 64 (range 0-131) months after
receiving their wheelchair. Diagnoses included 27 types of RDs including
Friedreich's ataxia, motor neurone disease, osteogenesis imperfecta,
arthrogryposis, cerebellar syndromes and others. Nineteen users had between them
36 comorbidities and 30 users had 44 ACFs likely to influence the prescription.
Tilt-in-space was provided to 34 (63%) users and specialised seating to 17 (31%).
Four users had between them complex control or interfacing issues. CONCLUSIONS:
The complex and diverse clinical problems of those with RDs present unique
challenges to the multiprofessional wheelchair team to maintain successful
independent mobility and community living. Implications for Rehabilitation
Powered mobility is a major therapeutic tool for those with rare diseases
enhancing independence, participation, reducing pain and other clinical features.
The challenge for rehabilitation professionals is reconciling the physical
disabilities with the individual's need for function and participation whilst
allowing for disease progression and/or growth. Powered wheelchair users with
rare diseases with a (kypho) scoliosis require a wheelchair system that balances
spine stability and movement to maximise residual upper limb and trunk function.
The role of specialised seating needs careful consideration in supporting joint
derangements and preventing complications such as pressure sores.

Langue : ANGLAIS