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

J Burns; S Ramchandren; M M Ryan; M Shy; R A Ouvrier

doi:10.1212/WNL.0b013e3181eee496

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

Journal article

Open access

Peer reviewed

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

J Burns, S Ramchandren, M M Ryan, M Shy and R A Ouvrier

Neurology, Vol.75(8), pp.726-731

08/24/2010

DOI: 10.1212/WNL.0b013e3181eee496

PMCID: PMC2931653

PMID: 20733147

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Abstract

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.

Quality of Life

Cross-Sectional Studies

Muscular Diseases - epidemiology

Tremor - epidemiology

Humans

Movement Disorders - diagnosis

Child, Preschool

Motor Skills Disorders - epidemiology

Male

Movement Disorders - epidemiology

Tremor - diagnosis

Sleep-Wake Transition Disorders - diagnosis

Gait Disorders, Neurologic - diagnosis

Gait Disorders, Neurologic - epidemiology

Muscular Diseases - diagnosis

Adolescent

Female

Charcot-Marie-Tooth Disease - epidemiology

Child

Motor Skills Disorders - diagnosis

Charcot-Marie-Tooth Disease - diagnosis

Sleep-Wake Transition Disorders - epidemiology

Details

Title: Subtitle: Determinants of reduced health-related quality of life in pediatric inherited neuropathies
Creators: J Burns - Department of Neurology, Wayne State University-Detroit Medical Center, 4201 St. Antoine, UHC 8D, Detroit, MI 48201, USA
S Ramchandren
M M Ryan
M Shy
R A Ouvrier
Resource Type: Journal article
Publication Details: Neurology, Vol.75(8), pp.726-731
DOI: 10.1212/WNL.0b013e3181eee496
PMID: 20733147
PMCID: PMC2931653
NLM abbreviation: Neurology
ISSN: 0028-3878
eISSN: 1526-632X
Publisher: United States
Grant note: U54-NS065712-01 / NINDS NIH HHS K23 NS072279 / NINDS NIH HHS
Language: English
Date published: 08/24/2010
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984014019402771

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