Objective:

This quality improvement project aims to evaluate whether obstructive sleep apnea is under-recognized and/or underdiagnosed in Huntington’s Disease individuals in a single academic center in the United States. 

Background:

Sleep disturbance and circadian rhythm abnormality are often observed in patients with Huntington’s disease (HD) and may influence disease severity, progression and quality of life. However, the prevalence of obstructive sleep apnea (OSA) in this population is not well characterized. 

Design/Methods:

Fifty-two individuals with a confirmed diagnosis of HD were identified within a single academic center between October 2023 and April 2024. Demographic variables (race, sex, age) and clinical data (age at HD diagnosis, CAG repeat length, prior sleep diagnosis) were collected by systematic retrospective chart review. Daytime sleepiness and OSA risk were assessed during routine Neurology outpatient visits via administration of the Epworth Sleepiness Scale (ESS) and STOP-Bang questionnaire (SB). ESS ≥10 indicates excessive sleepiness; SB scores of 5-8 represent high risk of OSA. 

Results:

Of the 52 HD individuals, 41 were symptomatic and 11 were pre-symptomatic. Thirty (57.7%) self-identified as female. Reported race included 33 (63.5%) White, 2 (3.8%) American Indian/Alaskan Native, 1 (1.9%) Asian, and the remainder unknown. The mean age of HD diagnosis was 46.8 years, and the mean CAG repeat length was 43.8. Four individuals (7.7%) scored 5-8 on the SB questionnaire and 16 (30.8%) individuals scored ≥10 on the ESS indicating elevated risk of OSA. Only 4 in our cohort had a documented OSA diagnosis. 

Conclusions:

While OSA prevalence in general U.S. population is estimated at 24-33%, our cohort showed a comparable proportion at high risk yet low rate of formal diagnosis. These findings suggest OSA may be under-recognized and under-treated in HD. Routine screening and referral to sleep medicine should be considered in this population.