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Background: Optimal measurement tools for problematic sleep inertia, common in some central disorders of hypersomnolence (CDH), have not yet been determined. We evaluated the performance of the Sleep Inertia Questionnaire (SIQ) in CDH, and how well it distinguished hypersomnolent groups from controls, and IH (idiopathic hypersomnia) from narcolepsy type 1 (NT1)., Methods: This prospective, bi-centric study included 63 control, 84 IH, 16 NT1, 18 narcolepsy type 2 (NT2), and 88 subjective excessive daytime sleepiness (sEDS) participants, using ICSD-3 criteria. 126 (47.2 %) participants were on any medication at the time of SIQ completion. We assessed construct validity of SIQ scores, and sleep inertia duration (SID), and compared them across diagnoses, controlling for age and center. We derived cutpoints to distinguish hypersomnolent patients from controls and IH from NT1. Sensitivity analyses for depression, chronotype, and medication were performed., Results: The SIQ sum and composite score were significantly lower in controls than in other groups (p < 0.0001), demonstrating outstanding ability to distinguish patients from controls (AUCs 0.92), without differences among hypersomnolent groups. SID (AUC 0.76) was significantly shorter in controls than in all hypersomnolent groups except NT1, and was shorter in NT1 than in IH or sEDS. Optimal SIQ sum cutpoint was 42 (J = 0.71) for patients versus controls. Optimal SID cutpoint in distinguishing IH from NT1 was 25 min (J = 0.39)., Conclusion: The SIQ has excellent ability to distinguish hypersomnolent patients from healthy controls, after controlling for depression, eveningness, and medication. SID is best at distinguishing IH from NT1., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests. Lynn Marie Trotti reports financial support was provided by National Institutes of Health. David T. Plante reports financial support was provided by American Academy of Sleep Medicine Foundation. Dr. Lynn Marie Trotti reports a relationship with American Academy of Sleep Medicine Foundation that includes: board membership and funding grants. Lynn Marie Trotti reports a relationship with American Academy of Sleep Medicine that includes: board membership, speaking and lecture fees, and travel reimbursement. Lynn Marie Trotti reports a relationship with American Board of Sleep Medicine that includes: board membership. Lynn Marie Trotti reports a relationship with Sleep Research Society that includes: speaking and lecture fees. Lynn Marie Trotti reports a relationship with CHEST that includes: speaking and lecture fees and travel reimbursement. Lynn Marie Trotti reports a relationship with Haymarket Medical Education that includes: speaking and lecture fees and travel reimbursement. Lynn Marie Trotti reports a relationship with Per CME that includes: speaking and lecture fees and travel reimbursement. Lynn Marie Trotti reports a relationship with Efficient CME that includes: speaking and lecture fees. Lynn Marie Trotti reports a relationship with Clinical Care Options LLC that includes: speaking and lecture fees and travel reimbursement. David T. Plante reports a relationship with National Institutes of Health that includes: funding grants. David T. Plante reports a relationship with Wisconsin Alumni Research Foundation Inc that includes: funding grants. David T. Plante reports a relationship with Harmony Biosciences that includes: consulting or advisory and funding grants. David T. Plante reports a relationship with Alzheimer's Association that includes: funding grants. David T. Plante reports a relationship with Jazz Pharmaceuticals Inc that includes: consulting or advisory. David T. Plante reports a relationship with Aditium Biosci that includes: consulting or advisory. David T. Plante reports a relationship with Alkermes that includes: consulting or advisory. David T. Plante reports a relationship with Teva Pharmaceutical Australia that includes: consulting or advisory. David T. Plante reports a relationship with American Academy of Sleep Medicine that includes: speaking and lecture fees. David Rye reports a relationship with National Institutes of Health that includes: funding grants. David T. Plante reports a relationship with NextSense that includes: funding grants. David Rye reports a relationship with Jazz Pharmaceuticals Inc that includes: consulting or advisory. David Rye reports a relationship with Takeda that includes: consulting or advisory. Ana Maria Vascan reports a relationship with National Institutes of Health that includes: funding grants. Ana Maria Vascan reports a relationship with Wisconsin Alumni Research Foundation Inc that includes: funding grants. Ana Maria Vascan reports a relationship with NASA that includes: funding grants. Prabhjyot Saini reports a relationship with NextSense that includes: consulting or advisory, funding grants, speaking and lecture fees, and travel reimbursement. Royalty from Cambridge University Press to David T. Plante. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Published by Elsevier B.V.)

Objective/background: Knowledge of idiopathic hypersomnia symptomatology derives from clinical case series. Web-based registries provide complementary information by allowing larger sample sizes, with greater geographic and social diversity., Patients/methods: Data were obtained from the Hypersomnia Foundation's online registry. Common clinical features of idiopathic hypersomnia and other central disorders of hypersomnolence were queried, for the last thirty days and when symptoms were most severe. Symptoms were compared between idiopathic hypersomnia participants with and without long sleep durations and between participants with idiopathic hypersomnia and those with either form of narcolepsy. Frequency of medication use and residual symptoms on medication were evaluated., Results: Five-hundred sixty-three registry respondents were included, with idiopathic hypersomnia (n = 468), narcolepsy type 2 (n = 44), and narcolepsy type 1 (n = 51). "Brain fog," poor memory, and sleep drunkenness were all present in most idiopathic hypersomnia respondents, with brain fog and sleep drunkenness more commonly endorsed by those with long sleep durations. Eighty-two percent of participants with idiopathic hypersomnia were currently treated with medication, most commonly traditional psychostimulants such as amphetamine salts. Among treated patients, symptoms improved while on medication, but substantial residual hypersomnia symptoms remained. Participants with narcolepsy type 1 were more likely than those with idiopathic hypersomnia to endorse intentional and unintentional daytime naps and automatic behaviors., Conclusions: Symptoms of idiopathic hypersomnia extend well beyond excessive daytime sleepiness, and these symptoms frequently persist despite treatment. These findings highlight the importance of online registries in identifying gaps in the use and effectiveness of current treatments., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Background/objective: Restless legs syndrome (RLS) is a neurological disorder with a strong genetic susceptibility. A painful RLS sub-phenotype has been described previously but the neurobiological basis for this phenotypic variant remains unknown. This study investigated whether any of the six initially discovered genomic loci associating with RLS (BTBD9, MEIS1, PTPRD, MAP2K5/SKOR1, TOX3, and an intergenic region on chromosome 2), were more strongly associated with complaints of painful versus non-painful RLS., Methods: RLS patients (N = 199; Age = 53.1 ± 16.8; 100% Caucasians; 57% women) diagnosed clinically were genotyped for known variants associating with RLS. Definition of painful RLS required that subjects selected "painful" from a list of 14 adjectives to describe their RLS sensory experience and answered positively to a separate question that queried specifically as to whether they perceived their RLS sensations as painful. Genotype association tests employed logistic regression analyses with assumption of an additive genetic model. Analyses were performed using PLINK software v1.07., Results: We identified two RLS patient subgroups: a painful (n = 41) and non-painful (n = 158). Among 10 tested SNPs, only rs3104767 (related to the TOX3 gene locus) was more associated with painful RLS. The minor allele T of SNP rs3104767 was associated with an increased risk of RLS being perceived as painful with an OR of 1.67 [CI = (1.01-2.74); p = 0.049]. Notably, this minor T allele associated with pain sensation in RLS patients in this study was the non-risk allele for RLS in the original RLS genome wide association study, but a similar trend was observed in a recent Parkinson disease sample study., Conclusion: This study might suggest the TOX3 gene variant as a potential genetic substrate for the painful RLS sub-phenotype. This was an exploratory small study and correction for multiple comparisons would have rendered the results not significant. Therefore, the above findings require replication in larger clinical as well as population-based samples of RLS subjects., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Background: Two leading hypotheses for restless legs syndrome (RLS) pathophysiology are dopaminergic dysfunction and sympathetic overactivity. Ocular changes occur with both dopaminergic and sympathetic pathologies, and thus may provide unique insights into the pathophysiology of RLS., Methods: Thirty-five patients with RLS and 35 healthy individuals were enrolled in the study. Peripapillary retinal nerve fiber layer (RNFL), macular, and choroidal thicknesses were measured by optical coherence tomography (OCT)., Results: There were no statistically significant differences between the two groups regarding RNFL and macular thicknesses. The subfoveal, temporal and nasal choroidal thicknesses were significantly thinner in patients with RLS compared with normal subjects (p < 0.05)., Conclusion: Thinning of the choroid is linked to sympathetic overactivity. Our results provide further evidence for sympathetic overactivity in the pathogenesis of RLS., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Objective: The purpose of this study was to enhance our understanding of clinical trends in sleep and rapid eye movement (REM) propensity on the multiple sleep latency test (MSLT). Demographic variables of interest included early childhood/advanced age, gender, race, and REM-suppressant use., Methods: Nocturnal sleep studies and 5-nap MSLTs were retrieved from a large repository of deidentified studies from various US sleep clinics between 2007 and 2015. Studies were signal processed, human-edited, and underwent rigorous quality assurance for inclusion., Results: The final sample consisted of N = 2498 MSLTs (24.2% Black; 34.2% Men; Age 4-89). In adults (age ≥ 21), sleep propensity modestly decreased across nap (90% at nap 1 to 80% at nap 5; p < 0.001). Children ≤12 years were least likely to fall asleep on any nap (∼55% at nap 5). REM propensity troughed at nap 4 (13%) and varied with age. Advanced age (≥60 years; OR: 0.28, p < 0.001), REM-suppressant use (OR:0.52, p < 0.001), and female sex (men OR: 1.48, p = 0.012) was associated with a decreased proportion of ≥2 REMs in adjusted logistic models. Children often demonstrated only 1 REM and generally had long sleep latencies, yielding a low proportion of MSLTs consistent with narcolepsy (11.0% vs. 19.2% and 16.8% in those between 13-20 and 21-59, respectively; p = 0.003)., Conclusions: MSLT outcomes vary greatly across age, gender, and use of psychotropic medication. Demographic variance should be considered when interpreting MSLT results. Robust age effect question the appropriateness of the MSLT as currently designed and implemented for children and older adults., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Introduction: The International Restless Legs Study Group (IRLSSG) has developed the IRLS (International Restless Legs Syndrome Severity Scale) and validated it as a clinician/researcher administered scale to be used when both patient and examiner are present. The IRLSSG recognized the need for a self-completing scale that can be used economically in clinical practice and in large population-based studies. In this study the validity and the reliability of the IRLS as a self-administered scale (sIRLS) is assessed., Methods: Established RLS patients were recruited by eight centers in four countries and consented to participate in this study. The validity of the sIRLS was assessed by patients completing the sIRLS before a clinician administered the IRLS. The reliability of the sIRLS was assessed by patients completing the sIRLS again, two weeks after the first one, provided no change had occurred., Results: Overall, 173 patients were recruited and 164 of them were included in the analyses. The sIRLS showed satisfactory scaling assumptions and no relevant floor or ceiling effect. One factor explained 61.3% of the variance. Cronbach's alpha was 0.93 and the item homogeneity index was 0.59. Intraclass correlation coefficient between the sIRLS and the IRLS was 0.94. The sIRLS standard error of measurement was 3.61 (½ SD at baseline = 4.11). The results mostly overlapped those of the IRLS analyzed in parallel., Discussion: The sIRLS is a reliable, valid and precise instrument that showed tight association with the IRLS. These findings support the use of the sIRLS for self-evaluation of RLS severity. The responses obtained on the sIRLS and the IRLS scale varied slightly. Therefore, we recommend that either the sIRLS or the IRLS scale be used as the only scale for serial measures over time., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Background: Previous studies have demonstrated both clinical and neurochemical similarities between Parkinson's disease (PD) and narcolepsy. The intrusion of REM sleep into the daytime remains a cardinal feature of narcolepsy, but the importance of these intrusions in PD remains unclear. In this study we examined REM sleep during daytime Maintenance of Wakefulness Testing (MWT) in PD patients., Methods: Patients spent 2 consecutive nights and days in the sleep laboratory. During the daytime, we employed a modified MWT procedure in which each daytime nap opportunity (4 per day) was extended to 40 min, regardless of whether the patient was able to sleep or how much the patient slept. We examined each nap opportunity for the presence of REM sleep and time to fall asleep., Results: Eleven of 63 PD patients studied showed 2 or more REM episodes and 10 showed 1 REM episode on their daytime MWTs. Nocturnal sleep characteristics and sleep disorders were unrelated to the presence of daytime REM sleep, however, patients with daytime REM were significantly sleepier during the daytime than those patients without REM. Demographic and clinical variables, including Unified Parkinson's Disease Rating Scale motor scores and levodopa dose equivalents, were unrelated to the presence of REM sleep., Conclusions: A sizeable proportion of PD patients demonstrated REM sleep and daytime sleep tendency during daytime nap testing. These data confirm similarities in REM intrusions between narcolepsy and PD, perhaps suggesting parallel neurodegenerative conditions of hypocretin deficiency., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Few investigations have examined sleep in cervical dystonia (CD) patients. We assessed 43 consecutive CD patients, 19 patients with other focal movement disorders, and 49 healthy, age- and gender-matched controls for the presence of excessive daytime sleepiness (as measured by the Epworth Sleepiness Scale, ESS). All patients were receiving botulinum toxin. We found that a higher percentage of CD patients had abnormal ESS scores of >11 than did either of the two control groups (21% vs. 0% vs. 4%, p < 0.05 for each pairwise comparison with the CD group). Use of anticholinergic medications accounted for some but not all of this increase in sleepiness in the CD group. Age, gender, race, scores on the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) or its subscores (severity, disability, and pain), and other common medication use (benzodiazepines, antidepressants) were not associated with increased ESS scores. This preliminary finding of excessive daytime sleepiness in a substantial portion of CD patients suggests that further investigation into disordered sleep in CD is warranted.

Objective: Night-to-night variability of periodic leg movements (PLMs) in restless legs syndrome (RLS) was examined to define the range of intra-subject values, impact upon diagnosing RLS, and clinical correlates., Methods: Twenty RLS patients were monitored for 10-15 nights using a validated, tri-axial accelerometer worn on the ankle., Results: The mean difference in PLMs index (PLMI) between the lowest and highest night was 25.1/h (range: 3.9-73.8). Inter-subject differences accounted for nearly five times the variance in PLMI relative to between nights within an individual. Based on a single night of recording, PLMI criterion thresholds of 5, 10, and 15/h were exceeded on approximately 70.1%, 51.9% and 34.1% of individual nights among these patients. Based on five randomly sampled nights of recordings, the likelihood that such thresholds were met on at least a single night increased to 91.2%, 80.8% and 62.7%, respectively. Women exhibited greater variability., Conclusions: Variability in PLMs within RLS subjects was substantial, yet individuals' characteristic PLM level represented a quantitative trait. Variability was unrelated to age or scores on scales of RLS severity, sleepiness, functional status, and mood. A larger number of recording nights increased the likelihood that any criterion was reached.