Sleep apnea in fragile X premutation carriers with and without FXTAS

Alyssa Hamlin, Ying Liu, Danh V. Nguyen, Flora Tassone, Lin Zhang, Randi J Hagerman

Research output: Contribution to journalArticle

36 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)923-928
Number of pages6
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume156
Issue number8
DOIs
StatePublished - Dec 2011

Fingerprint

Sleep Apnea Syndromes
Intellectual Disability
Messenger RNA
Logistic Models
Odds Ratio
Fragile X Tremor Ataxia Syndrome
Confidence Intervals
Demography

Keywords

  • Fragile X-associated tremor/ataxia syndrome
  • Gait disorders/ataxia
  • Mitochondrial disorders
  • Sleep apnea
  • Trinucleotide repeat diseases

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

Cite this

Sleep apnea in fragile X premutation carriers with and without FXTAS. / Hamlin, Alyssa; Liu, Ying; Nguyen, Danh V.; Tassone, Flora; Zhang, Lin; Hagerman, Randi J.

In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 156, No. 8, 12.2011, p. 923-928.

Research output: Contribution to journalArticle

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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.",
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