Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

Abstract

Background Sleep abnormalities have been reported in Charcot–Marie–Tooth disease (CMT), but data are scanty. We investigated their presence and correlation in a large CMT patients’ series. Methods Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to CMT patients of the Italian registry and controls. ESS score > 10 indicated abnormal daytime somnolence, PSQI score > 5 bad sleep quality. We analyzed correlation with disease severity and characteristics, Hospital Anxiety and Depression Scale (HADS), Modified Fatigue Impact Scale (MFIS), Body Mass Index, drug use. Results ESS and PSQI questionnaires were filled by 257 and 253 CMT patients, respectively, and 58 controls. Median PSQI score was higher in CMT patients than controls (6 vs 4, p = 0.006), with no difference for ESS score. Abnormal somnolence and poor sleep quality occurred in 23% and 56% of patients; such patients had more frequently anxiety/depression, abnormal fatigue, and positive sensory symptoms than those with normal ESS/PSQI. Moreover, patients with PSQI score > 5 had more severe disease (median CMT Examination Score, CMTES, 8 vs 6, p = 0.006) and more frequent use of anxiolytic/antidepressant drugs (29% vs 7%, p < 0.001). Conclusions Bad sleep quality and daytime sleepiness are frequent in CMT and correlated with anxiety, depression and fatigue, confirming that different components affect sleep. Sleep disorders, such as sleep apnea and restless leg syndrome, not specifically investigated here, are other factors known to impact on sleep quality and somnolence. CMT patients’ management must include sleep behavior assessment and evaluation of its correlated factors, including general distress and fatigue.

Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature

“…Either way, axonal damage is believed to predispose individuals to RLS, and female CMT patients are more often affected than males. A recent study by Bellofatto and colleagues confirmed the frequent presence of sleep disorders and daytime sleepiness in patients with CMT ( 29 ). A significant difference in the Pittsburgh Sleep Quality Index (PSQI) was observed between subjects with CMT and controls.…”

“…A significant difference in the Pittsburgh Sleep Quality Index (PSQI) was observed between subjects with CMT and controls. Patients with PSQI >5 also exhibited higher CMTES and greater use of antidepressant and anxiolytic medications ( 29 ). The same authors also assessed the prevalence of fatigue in a large series of CMT patients recruited through the Italian CMT Registry ( 30 ).…”