Article

Wolfram syndrome (WFS), a rare neurodegenerative disorder, is characterized
by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness,
diabetes insipidus, and neurological abnormalities. Although previously
unreported, we hypothesized that neurological complications may be detectable in
relatively early stages of the disease. As the cerebellum and brainstem seem
particularly vulnerable in WFS, we focused on balance functions critically
dependent on these regions. The primary goal of this investigation was to compare
balance in young individuals with WFS, in relatively early stages of the disease,
to an age-matched cohort using a clinically applicable test. METHOD: Balance was
assessed via the mini-BESTest in 13 children, adolescents and young adults with
WFS and 30 typically developing age-matched individuals. RESULTS: A significant
difference was observed between groups in balance as well as in three of four
subcomponents of the mini-BESTest and in two timed tasks related to balance.
Mini-BESTest scores were correlated with age among typically developing
individuals. In the WFS group, mini-BESTest scores were related to overall motor
dysfunction, but not age. INTERPRETATION: Impairments in balance in WFS may occur
earlier in the disease process than previously recognized and appear to be
related to overall neurological progression rather than chronological age.
Recognizing balance impairments and understanding which balance systems
contribute to balance deficits in those with WFS may allow for development of
effective patient-centered treatment paradigms.
CI - Copyright (c) 2012 Elsevier B.V. All rights reserved.

Langue : ANGLAIS