Objective To study the frequency and clinical features of sleep disturbances in amyotrophic lateral sclerosis (ALS) patients and compare sleep disorders between ALS with and without mutations.
Methods In this case–control study, 204 ALS patients and 206 controls were included. We evaluated sleep quality using Pittsburgh Sleep Quality Index (PSQI). Excessive daytime sleepiness (EDS) was diagnosed according to Epworth Sleepiness Scale (ESS). Other characteristics, including rapid eye movement sleep behaviour disorder, restless legs syndrome (RLS), cognitive and psychological impairments, were also evaluated. All ALS patients underwent whole exome sequencing analysis to screen for ALS mutations and were divided into genetic ALS and non-genetic ALS subgroups based on the genetic testing results.
Results A total of 114 men and 90 women ALS patients, with a mean onset age of 53.5±9.9 years, were included in this study. There were 21 mutations detected, contributing to 46.6% of familial amyotrophic lateral sclerosis (FALS) and 7.4% of sporadic amyotrophic lateral sclerosis (SALS). The PQSI and ESS scores were higher in ALS patients than in controls (PSQI 6.0 (3.0,10.0) vs 3.5 (2.0,5.0) (p<0.01); ESS 6.0 (3.0,10.0) vs 4.0 (3.0,8.0) (p<0.01), respectively). RLS was more frequent in ALS patients than in controls (p<0.01). Genetic ALS patients were more likely to show EDS than non-genetic ALS patients (adjusted OR 5.2, p<0.01). Genetic ALS scored lower on Revised ALS Functional Rating Scale, and higher on PSQI and ESS than non-genetic ALS (p<0.01).
Conclusions In the current study, ALS patients with mutations were more likely to have sleep-wake disturbances than were those without mutations. The former group may benefit more from sleep management.
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XS and XZ contributed equally.
Contributors XS: study concept, data acquisition, statistical analyses, interpretation of the results, writing the first version of the manuscript. XZ: genetic testing, data acquisition and interpretation of the results. QL: study concept, ALS diagnosis, revising the manuscript. LC: study concept, ALS diagnosis, writing the final version of the manuscript. YH: RLS diagnosis, interpretation of the results. SL: data acquisition, interpretation of the results. KZ, Z-lW, XY, LS, XZ: genetic testing, data acquisition.
Funding This work was supported by the National Natural Science Foundation of China (Grant number: NSFC81971293), the National Key Research and Development Programme of China (Grant number: 2016YFC0905100, 2016YFC0905103), the Chinese Academy of Medical Sciences (CAMS) Innovation Fund for Medical Sciences (CIFMS) (Grant number: 2016-I2M-1-002, 2016-I2M-1-004) and the Strategic Priority Research Programme of the Chinese Academy of Sciences (Grant number: XDB39000000).
Competing interests None declared.
Patient consent for publication Not required.
Ethics approval This study was approved by the Ethics Committee of Peking Union Medical College Hospital, the number of the approval is B207.
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information. All data relevant to the study are included in the article or uploaded as supplementary information.
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