Sleep apnea in fragile X premutation carriers with and without FXTAS

Authors

  • Alyssa Hamlin,

    1. M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, California
    2. Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California
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  • Ying Liu,

    1. Department of Neurology, Dalian Municipal Friendship Hospital, Dalian, People's Republic of China 116001
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  • Danh V. Nguyen,

    1. Department of Public Health Sciences, Division of Biostatistics, University of California at Davis
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  • Flora Tassone,

    1. M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, California
    2. Department of Biochemistry and Molecular Medicine, University of California at Davis, School of Medicine, Davis, California
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  • Lin Zhang,

    1. Department of Neurology, University of California Davis School of Medicine, Sacramento, California
    2. Northern California VA Medical Center, Sacramento, California
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  • Randi J. Hagerman

    Corresponding author
    1. M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, California
    2. Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California
    • M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, CA; Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California, 2825 50th Street Sacramento, CA 95817.
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  • How to Cite this Article: Hamlin A, Liu Y, Nguyen DV, Tassone F, Zhang L, Hagerman RJ. 2011. Sleep Apnea in Fragile X Premutation Carriers With and Without FXTAS. Am J Med Genet Part B 156:923–928.

Abstract

This report seeks to establish the prevalence of sleep apnea in patients with the fragile X mental retardation 1 (FMR1) premutation with and without fragile X-associated tremor/ataxia syndrome (FXTAS) and to determine any correlation between CGG repeat and FMR1 mRNA levels with sleep apnea prevalence. Demographic and medical data from 430 (229 males, 201 females) participants were used in this analysis. Participants included premutation carriers with (n = 118) and without FXTAS (n = 174) as well as controls without the premutation (n = 123). Logistic regression models were employed to estimate the odds ratio of sleep apnea relative to controls, adjusted for age and gender, and also to examine potential association with CGG size and FMR1 mRNA expression level. The observed proportion of sleep apnea in premutation carriers with and without FXTAS and controls are 31.4% (37/118), 8.6% (15/174), and 13.8% (17/123), respectively. The adjusted odds of sleep apnea for premutation carriers with FXTAS is about 3.4 times that compared to controls (odds ratio, OR = 3.4, 95% confidence interval (CI) 1.8–7.4; P = 0.001), and similarly relative to premutation carriers without FXTAS (OR = 2.9, 95% CI 1.2–6.9; P = 0.014). The risk of sleep apnea was not different between controls and premutation carriers without FXTAS. The presence of sleep apnea is not associated with CGG repeat numbers nor FMR1 mRNA expression level among premutation carriers. Our data supports a higher prevalence and risk of sleep apnea in patients with FXTAS. We recommend that all patients diagnosed with FXTAS be screened for sleep apnea given the negative and perhaps accelerative impact sleep apnea may have on their FXTAS progression. © 2011 Wiley Periodicals, Inc.

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