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July 02, 2013; 81 (1) Article

Increased prevalence of sleep-disordered breathing in Friedreich ataxia

Louise A. Corben, Michael Ho, Janet Copland, Geneieve Tai, Martin B. Delatycki
First published May 22, 2013, DOI: https://doi.org/10.1212/WNL.0b013e318297ef18
Louise A. Corben
From the Bruce Lefroy Centre for Genetic Health Research (L.A.C., G.T., M.B.D.), Murdoch Childrens Research Institute, Parkville; Monash Lung and Sleep (M.H., J.C.), Monash Health, Clayton; and Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
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Michael Ho
From the Bruce Lefroy Centre for Genetic Health Research (L.A.C., G.T., M.B.D.), Murdoch Childrens Research Institute, Parkville; Monash Lung and Sleep (M.H., J.C.), Monash Health, Clayton; and Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
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Janet Copland
From the Bruce Lefroy Centre for Genetic Health Research (L.A.C., G.T., M.B.D.), Murdoch Childrens Research Institute, Parkville; Monash Lung and Sleep (M.H., J.C.), Monash Health, Clayton; and Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
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Geneieve Tai
From the Bruce Lefroy Centre for Genetic Health Research (L.A.C., G.T., M.B.D.), Murdoch Childrens Research Institute, Parkville; Monash Lung and Sleep (M.H., J.C.), Monash Health, Clayton; and Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
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Martin B. Delatycki
From the Bruce Lefroy Centre for Genetic Health Research (L.A.C., G.T., M.B.D.), Murdoch Childrens Research Institute, Parkville; Monash Lung and Sleep (M.H., J.C.), Monash Health, Clayton; and Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
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Citation
Increased prevalence of sleep-disordered breathing in Friedreich ataxia
Louise A. Corben, Michael Ho, Janet Copland, Geneieve Tai, Martin B. Delatycki
Neurology Jul 2013, 81 (1) 46-51; DOI: 10.1212/WNL.0b013e318297ef18

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Abstract

Objectives: We sought to document the prevalence and nature of sleep-disordered breathing (SDB) in individuals with Friedreich ataxia (FRDA) as well as establish the relationship, if any, between SDB and clinical parameters of FRDA.

Methods: Eighty-two individuals with FRDA were administered the Epworth Sleepiness Scale on an annual basis for up to 3 years. Individuals were referred for a sleep study if they had an Epworth Sleepiness Scale score >8 or had clinical symptoms suggestive of SDB.

Results: From this cohort, 21 individuals underwent a sleep study and 17 were diagnosed with obstructive sleep apnea syndrome, giving a minimum prevalence of 21%, which is greater than that found in the general population (3%–7%). Moreover, the presence of obstructive sleep apnea was significantly correlated with the duration of disease and clinical severity of FRDA.

Conclusion: It is recommended that individuals with FRDA undergo regular screening for obstructive sleep apnea to identify the need for a sleep study and subsequent treatment if SDB is diagnosed.

GLOSSARY

BMI=
body mass index;
CSA=
central sleep apnea;
ESS=
Epworth Sleepiness Scale;
FARS=
Friedreich Ataxia Rating Scale;
FRDA=
Friedreich ataxia;
ODI=
Oxygen Desaturation Index;
OSA=
obstructive sleep apnea;
OSAS=
obstructive sleep apnea syndrome;
RDI=
Respiratory Disturbance Index;
SDB=
sleep-disordered breathing

Footnotes

  • Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Supplemental data at www.neurology.org

  • Received December 19, 2012.
  • Accepted in final form March 13, 2013.
  • © 2013 American Academy of Neurology
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