CMT 1A: Determinants of reduced health-related quality of life in pediatric inhe

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Neurology. 2010 Aug 24;75(8):726-31.

Determinants of reduced health-related quality of life in pediatric inherited

neuropathies.

Burns J, Ramchandren S, MM, Shy M, Ouvrier RA.

Department of Neurology, Wayne State University-Detroit Medical Center, 4201 St.

Antoine, UHC 8D, Detroit, MI 48201

Abstract

OBJECTIVE: We have shown that health-related quality of life (QOL) in children

with inherited neuropathies (Charcot-Marie-Tooth disease [CMT]) is significantly

reduced compared to population norms, thus establishing its utility as an

outcome measure in therapeutic trials.

However, the Australian ascorbic acid trial in children with CMT type 1A (CMT1A)

identified no change in QOL scores despite a trend toward improvement in nerve

conduction velocities in the treated group. The objective of this study was to

identify clinical, electrophysiologic, and functional correlates of QOL in

children with CMT1A, to guide future investigations of strategies to improve QOL

and reduce disability in these patients.

METHODS: In this cross-sectional study, a series of multivariate regression

models were developed to determine whether QOL scores could be explained by

demographic and symptom data, standardized measures of gross motor function,

foot/ankle and hand/finger involvement, electrophysiology, and gait

characteristics in 70 children aged 5-16 years with CMT1A.

RESULTS: Independent determinants of reduced QOL in children with CMT1A, from

strongest to weakest, were leg cramps, hand tremor, short step length, reduced

long jump distance, ankle inflexibility, poor agility and endurance, advancing

age, and foot drop. Many of the standardized clinical and electrophysiologic

measures used as endpoints in clinical trials of CMT correlated poorly with QOL.

CONCLUSION: QOL is negatively affected by CMT1A in children. Multivariate

modeling suggests that interventions designed to improve leg cramps, tremor,

agility, endurance, and ankle flexibility might have a substantial effect on QOL

in children with CMT1A.

PMID: 20733147 [PubMed - in process]