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1.
J Sleep Res ; : e12935, 2019 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-31674096

RESUMO

An increasing number of sleep applications are currently available and are being widely used for in-home sleep tracking. The present study assessed four smartphone applications (Sleep Cycle-Accelerometer, SCa; Sleep Cycle-Microphone, SCm; Sense, Se; Smart Alarm, SA) designed for sleep-wake detection through sound and movement sensors, by comparing their performance with polysomnography. Twenty-one healthy participants (six males, 15 females) used the four sleep applications running on iPhone (provided by the experimenter) simultaneously with portable polysomnography recording at home, while sleeping alone for two consecutive nights. Whereas all apps showed a significant correlation with polysomnography-time in bed, only SA offered significant correlations for sleep efficacy. Furthermore, SA seemed to be quite effective in reliable detection of total sleep time and also light sleep; however, it underestimated wake and partially overestimated deep sleep. None of the apps resulted capable of detecting and scoring rapid eye movement sleep. To sum up, SC (functioning through both accelerometer and microphone) and Se did not result sufficiently reliable in sleep-wake detection compared with polysomnography. SA, the only application offering the possibility of an epoch-by-epoch analysis, showed higher accuracy than the other apps in comparison with polysomnography, but it still shows some limitations, particularly regarding wake and deep sleep detection. Developing scoring algorithms specific for smartphone sleep detection and adding external sensors to record other physiological parameters may overcome the present limits of sleep tracking through smart phone apps.

2.
Sleep Med ; 65: 8-12, 2019 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-31706191

RESUMO

STUDY OBJECTIVES: To investigate the prevalence and neurophysiological correlates of obstructive sleep disordered breathing (OSA) in type 1 narcolepsy (NT1) children and adolescents. METHODS: Thirty-eight, drug-naïve, NT1 children and adolescents and 21 age- and sex-balanced clinical controls underwent nocturnal polysomnography (PSG) and multiple sleep latency test (MSLT). According to the rules for pediatric population, an obstructive apnea-hypopnea index (Obstructive AHI) ≥ 1 (comprising obstructive and mixed events), defined comorbid OSA. RESULTS: NT1 children showed higher prevalence of overweight/obesity and severe nocturnal sleep disruption (lower sleep efficiency, and increased N1 sleep stage percentage) coupled with higher motor activity (periodic limb movement index [PLMi] and REM atonia index) compared to clinical controls. Sleep-related respiratory variables did not differ between NT1 and clinical controls (OSA prevalence of 13.2% and 4.8%, respectively). NT1 children with OSA were younger and showed lower N2 sleep stage percentage and higher PLMi than NT1 children without comorbid OSA. Overweight/obesity was not associated with OSA in NT1. CONCLUSIONS: Despite higher body mass index (BMI), OSA prevalence did not differ between children with NT1 and clinical controls. OSA in pediatric NT1 patients is a rare and mild comorbidity, further contributing to nocturnal sleep disruption without effects on daytime sleepiness.

3.
Sleep ; 2019 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-31552425

RESUMO

STUDY OBJECTIVES: To measure the levels of five neurodegenerative biomarkers in the cerebrospinal fluid (CSF) of patients with narcolepsy type 1 (NT1) with variable disease duration. METHODS: Following a standardized protocol of CSF collection and storage, we measured CSF total-and phosphorylated-tau, amyloid-beta 1-40 and 1-42, and neurofilament light chain proteins in 30 non-neurological controls and 36 subjects with NT1, including 14 patients with recent disease onset (i.e. ≤ 12 months, short disease duration group). RESULTS: CSF levels of all biomarkers were similar in NT1 subjects and controls. The comparison between NT1 with short and long disease duration only revealed slightly higher levels of CSF amyloid-beta 40 in the former group (median 9549.5, IQR 7064.2-11525.0 vs. 6870.0, IQR 5133.7-9951.2, p=0.043). CSF storage time did not influence the levels of the tested biomarkers. CONCLUSIONS: The measurement of CSF total-tau, phosphorylated-tau, amyloid-beta 40 and 42, and neurofilament light chain proteins is not informative in NT1.

4.
Ann Clin Transl Neurol ; 6(9): 1872-1876, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31386270

RESUMO

To search for discriminating biomarkers, 30 patients with idiopathic rapid-eye-movements sleep behavior disorder (iRBD) were compared with 17 patients with RBD within narcolepsy type 1. Both groups underwent extensive examinations, including skin biopsy searching for phosphorylated α-synuclein deposits and whole-night video-polysomnography. Skin biopsy was positive for phosphorylated α-synuclein deposits in 86.7% of iRBD patients and in none of narcoleptic patients. The analysis of video-polysomnographic motor events showed differences in their occurrence throughout the night in the two groups. iRBD and RBD due to narcolepsy do have different clinical and pathological findings, confirming a different pathophysiology.

5.
Neurology ; 93(11): e1034-e1044, 2019 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-31405906

RESUMO

OBJECTIVE: To validate polysomnographic markers (sleep latency and sleep-onset REM periods [SOREMPs] at the Multiple Sleep Latency Test [MSLT] and nocturnal polysomnography [PSG]) for pediatric narcolepsy type 1 (NT1) against CSF hypocretin-1 (hcrt-1) deficiency and presence of cataplexy, as no criteria are currently validated in children. METHODS: Clinical, neurophysiologic, and, when available, biological data (HLA-DQB1*06:02 positivity, CSF hcrt-1 levels) of 357 consecutive children below 18 years of age evaluated for suspected narcolepsy were collected. Best MSLT cutoffs were obtained by receiver operating characteristic (ROC) curve analysis by contrasting among patients with available CSF hcrt-1 assay (n = 228) with vs without CSF hcrt-1 deficiency, and further validated in patients without available CSF hcrt-1 against cataplexy (n = 129). RESULTS: Patients with CSF hcrt-1 deficiency were best recognized using a mean MSLT sleep latency ≤8.2 minutes (area under the ROC curve of 0.985), or by at least 2 SOREMPs at the MSLT (area under the ROC curve of 0.975), or the combined PSG + MSLT (area under the ROC curve of 0.977). Although specificity and sensitivity of reference MSLT sleep latency ≤8 minutes and ≥2 SOREMPs (nocturnal SOREMP included) was 100% and 94.87%, the combination of MSLT sleep latency and SOREMP counts did not improve diagnostic accuracy. Age or sex also did not significantly influence these results in our pediatric population. CONCLUSIONS: At least 2 SOREMPs or a mean sleep latency ≤8.2 minutes at the MSLT are valid and reliable markers for pediatric NT1 diagnosis, a result contrasting with adult NT1 criteria. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that for children with suspected narcolepsy, polysomnographic and MSLT markers accurately identify those with narcolepsy type 1.

6.
Sleep ; 2019 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-31353416

RESUMO

STUDY OBJECTIVES: arterial blood pressure (ABP) decreases during sleep compared to wakefulness and this change is blunted in mouse models of and adult patients with narcolepsy type 1 (NT1). We tested whether: 1) pediatric patients with NT1 have similar cardiovascular autonomic abnormalities during nocturnal sleep; and 2) these abnormalities can be linked to hypocretin-1 cerebrospinal fluid concentration (CSF HCRT-1), sleep architecture or muscle activity. METHODS: laboratory polysomnographic studies were performed in 27 consecutive drug-naïve NT1 children or adolescents and in 19 matched controls. Nocturnal sleep architecture and submentalis (SM), tibialis anterior (TA), and hand extensor (HE) electromyographic (EMG) activity were analyzed. Cardiovascular autonomic function was assessed through the analysis of pulse transit time (PTT) and heart period (HP). RESULTS: PTT showed reduced lengthening during total sleep and REM sleep compared to nocturnal wakefulness in NT1 patients than in controls, whereas HP did not. NT1 patients had altered sleep architecture, higher SM EMG during REM sleep, and higher TA and HE EMG during N1-N3 and REM sleep when compared to controls. PTT alterations found in NT1 patients were more severe in subjects with lower CSF HRCT-1, but did not cluster or correlate with sleep architecture alterations or muscle overactivity during sleep. CONCLUSION: our results suggest that pediatric NT1 patients close to disease onset have impaired capability to modulate ABP as a function of nocturnal wake-sleep transitions, possibly as a direct consequence of hypocretin neuron loss. The relevance of this finding for cardiovascular risk later in life remains to be determined.

7.
Sleep Breath ; 2019 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-31290083

RESUMO

Narcolepsy is a disabling, rare, and chronic sleep disorder, currently classified as distinct central nervous system hypersomnia in narcolepsy type 1 (NT1) and narcolepsy type 2 (NT2). Although today a reliable pathogenic hypothesis identifies the cause of NT1 as an autoimmune process destroying hypocretin-producing cells, there is no cure for narcolepsy, and the symptomatic pharmacological available treatments are not entirely effective for all symptoms. Behavioral therapies play a synergistic role in the disease treatment. We here review the available therapeutic options for narcolepsy, including symptomatic pharmacological treatments as well as behavioral and psychosocial interventions that could help clinicians improve the quality of life of patients with narcolepsy in adulthood and childhood.

8.
Sleep Breath ; 2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-31154621

RESUMO

PURPOSE: Excessive daytime sleepiness (EDS) is the core complaint of central nervous system (CNS) hypersomnias. In this mini-review, we summarized EDS features in CNS hypersomnias to provide a guide for differential diagnosis purposes. METHODS: A review of recent literature was performed to provide an update in CNS hypersomnias. RESULTS: At clinical evaluation, narcolepsy patients report a good restorative potential of sleep together with the frequent occurrence of dreaming even during short-lasting naps. These features are mirrored by the neurophysiological evidence of REM sleep at sleep onset (SOREMP) during the Multiple Sleep Latency Test (MSLT), a specific marker. Conversely, patients with idiopathic hypersomnia (IH) complain sleep inertia and prolonged nocturnal sleep. Polysomnographic studies show high sleep propensity on the MSLT or high 24-h total sleep time during continuous monitoring. Patients with insufficient sleep syndrome (ISS) can present with variable clinical EDS features in between narcolepsy and IH. ISS diagnosis is based on the clinical evidence of nocturnal sleep curtailment (weekdays versus vacations) associated with the disappearance of EDS complaint after sleep extension. Polysomnographic data are not required, but when the MSLT is performed, ISS patients can present with SOREMP arising from non-REM stage 2 sleep (vs narcolepsy patients entering into SOREM most frequently from wakefulness). Kleine-Levin Syndrome is characterized by recurrent episodes of enormously prolonged sleep time lasting days associated with abnormal cognition and behavior intermixed by asymptomatic periods, a sleep pattern that can be well documented by actigraphy. CONCLUSIONS: Different CNS hypersomnias present with specific features of EDS are useful to guide the clinician to apply and interpret appropriate neurophysiological investigations.

9.
J Sleep Res ; : e12882, 2019 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-31180173

RESUMO

We hypothesized that: (a) the presence of microsleep (MS) during a Maintenance Wakefulness Test (MWT) trial may represent a reliable marker of sleepiness in obstructive sleep apnea (OSA) patients; (b) the number of MSs will be higher in sleepy versus non-sleepy patients with a borderline MWT mean sleep latency; and (c) scoring MS during MWT analysis may help physicians to recognize patients with a higher degree of sleepiness. We analysed the MWT data of 112 treatment-naïve OSA patients: 20 with short sleep latency (SL, sleep latency <12.8 min), 43 with borderline latency (BL, sleep latency between 12.8 and 32.6 min) and 49 with normal latency (NL, sleep latency >32.6 min). Microsleep was identified in all SL, in 42 BL and in 18 NL patients, with a median latency of 5.6 min. Accordingly, patients were classified into two subgroups: group A (n = 43) with microsleep latency <5.6 min and group B (n = 69) with microsleep latency >5.6 min when present. The mean sleep latency in the MWT was 14.5 ± 7.5 min in group A and 34.6 ± 7.4 min in group B (p < 0.0001). The number of microsleep episodes during each MWT trial was higher in group A than in group B. Sleep latency survival curves demonstrated different patterns of sleep latency in these groups (log-rank test <0.0001). This finding was confirmed in a Cox proportional hazard analysis: the presence of a mean MS latency <5.6 min is associated with an increasing risk of falling asleep during the MWT (RR, 1.93; 95 CI 1.04-3.6; p = 0.03). We conclude that the detection of microsleep may help in discriminating OSA patients with and without daytime vigilance impairment.

10.
Brain ; 142(7): 1988-1999, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31143939

RESUMO

Some studies suggest a link between creativity and rapid eye movement sleep. Narcolepsy is characterized by falling asleep directly into rapid eye movement sleep, states of dissociated wakefulness and rapid eye movement sleep (cataplexy, hypnagogic hallucinations, sleep paralysis, rapid eye movement sleep behaviour disorder and lucid dreaming) and a high dream recall frequency. Lucid dreaming (the awareness of dreaming while dreaming) has been correlated with creativity. Given their life-long privileged access to rapid eye movement sleep and dreams, we hypothesized that subjects with narcolepsy may have developed high creative abilities. To test this assumption, 185 subjects with narcolepsy and 126 healthy controls were evaluated for their level of creativity with two questionnaires, the Test of Creative Profile and the Creativity Achievement Questionnaire. Creativity was also objectively tested in 30 controls and 30 subjects with narcolepsy using the Evaluation of Potential Creativity test battery, which measures divergent and convergent modes of creative thinking in the graphic and verbal domains, using concrete and abstract problems. Subjects with narcolepsy obtained higher scores than controls on the Test of Creative Profile (mean ± standard deviation: 58.9 ± 9.6 versus 55.1 ± 10, P = 0.001), in the three creative profiles (Innovative, Imaginative and Researcher) and on the Creative Achievement Questionnaire (10.4 ± 25.7 versus 6.4 ± 7.6, P = 0.047). They also performed better than controls on the objective test of creative performance (4.3 ± 1.5 versus 3.7 ± 1.4; P = 0.009). Most symptoms of narcolepsy (including sleepiness, hypnagogic hallucinations, sleep paralysis, lucid dreaming, and rapid eye movement sleep behaviour disorder, but not cataplexy) were associated with higher scores on the Test of Creative Profile. These results highlight a higher creative potential in subjects with narcolepsy and further support a role of rapid eye movement sleep in creativity.

11.
Ann Clin Transl Neurol ; 6(3): 445-455, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30911568

RESUMO

Objective: Narcolepsy type 1 widely affects the architecture of sleep with frequent fast transition to REM sleep at both nighttime and daytime sleep onset. The occurrence of repeated sleep onset REM periods over the Multiple Sleep Latency Test offers a unique opportunity to identify EEG patterns predictive of successful dream recall after short periods composed of only REM or NREM sleep. It also permits to disentangle state- from trait-like differences in dream recall, by using a within-subjects design. Methods: A consecutive series of 115 first-diagnosed drug-free adult narcolepsy-type 1 patients underwent Multiple Sleep Latency Tests and were asked after each nap opportunity if they had or had not a dream experience. Scalp EEG power and a specific index of cortical activation (delta/beta power ratio), obtained from naps of 43 patients with both presence and absence of dream recall in the same sleep stage, were compared separately for REM and NREM sleep. Results: Successful dream recall was associated with an increased EEG desynchronization in both REM and NREM over partially overlapping cortical areas. Compared to unsuccessful recall, it showed (1) lower delta power over centro-parietal areas during both stages, (2) higher beta power in the same cortical areas during NREM, and (3) lower values in the delta/beta ratio during NREM in most scalp locations. Interpretation: A more activated electrophysiological milieu in both REM and NREM sleep promotes dream recall, strengthening the notion that the parietal areas are crucial not only in generating dream experience, as shown in brain-damaged patients, but also in the memory processing leading to recall.

15.
Neurology ; 2019 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-30635496

RESUMO

OBJECTIVE: To investigate the neuronal correlates of spontaneous laughter in drug-naive pediatric patients with narcolepsy type I (NT1) compared to healthy controls by means of blood oxygen level-dependent (BOLD) MRI. METHODS: Twenty-one children/adolescents with recent onset of NT1 and 21 age- and sex-matched healthy controls were studied with fMRI while viewing funny videos using a naturalistic paradigm. Whole-brain hemodynamic correlates of spontaneous laughter were investigated in each group and compared by use of appropriate second-level general linear model analyses. If recorded, cataplexy events were treated as the effect of no interest at the single-participant level. Correlations analyses between these contrasts and behavioral findings were performed. RESULTS: Emotion-induced laughter occurred in 16 patients (294 events) and 21 controls (357 events). In controls, laughter-related BOLD increases involved a widespread cortical and subcortical network including the bilateral motor and premotor areas, cingulated cortex, insula, and amygdala. In NT1, laughter induced BOLD signal increments in the motor cortex, right thalamus, and left subthalamic nucleus/zona incerta (STN/ZI). STN/ZI and thalamic changes were significantly higher during fMRI sessions with laughter without cataplexy compared to sessions in which laughter was associated with cataplexy. CONCLUSION: Laughter expression in individuals with NT1 involves different brain circuits compared to controls by means of overactivation of cortical and subcortical regions belonging to the volitional control of laughter. The activation of the STN/ZI region observed predominantly in patients with NT1 during laugh episodes without cataplexy suggests that the ZI could act to prevent cataplexy.

16.
Nat Commun ; 9(1): 5229, 2018 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-30523329

RESUMO

Analysis of sleep for the diagnosis of sleep disorders such as Type-1 Narcolepsy (T1N) currently requires visual inspection of polysomnography records by trained scoring technicians. Here, we used neural networks in approximately 3,000 normal and abnormal sleep recordings to automate sleep stage scoring, producing a hypnodensity graph-a probability distribution conveying more information than classical hypnograms. Accuracy of sleep stage scoring was validated in 70 subjects assessed by six scorers. The best model performed better than any individual scorer (87% versus consensus). It also reliably scores sleep down to 5 s instead of 30 s scoring epochs. A T1N marker based on unusual sleep stage overlaps achieved a specificity of 96% and a sensitivity of 91%, validated in independent datasets. Addition of HLA-DQB1*06:02 typing increased specificity to 99%. Our method can reduce time spent in sleep clinics and automates T1N diagnosis. It also opens the possibility of diagnosing T1N using home sleep studies.

18.
Front Neurol ; 9: 707, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30197622

RESUMO

Objectives: Regular physical activity is routinely recommended in children and adolescents suffering from narcolepsy type 1 (NT1), but controlled studies analyzing its influence on sleep/wake behavior, metabolic, and anthropometric profile in pediatric NT1 are lacking. Methods: Fifty consecutive drug-naïve NT1 children and adolescents were assessed through actigraphic, clinical, and metabolic evaluations. Patients were compared with respect to their engagement in leisure-time physical activities (LTPA): patients engaged in LTPA (n = 30) and patients not engaged (No-LTPA, n = 20), respectively. Results: LTPA patients presented lower BMI, with different BMI categories distribution and higher HDL cholesterol, when compared with No-LTPA subjects. Increased night-sleep duration, higher sleep quality, and reduction of nap frequency were documented through actigraphy in LTPA subjects. Subjective sleepiness, as measured by ESS-CHAD, was also lower in LTPA subjects while cataplexy frequency proved similar between the two groups. Discussion: In pediatric NT1 patients, regular engagement in LTPA is associated with significant differences on sleepiness, anthropometric and metabolic profile and objectively assessed sleep/wake behavior. Engagement in LTPA is beneficial and should be strongly encouraged in pediatric NT1 patients.

19.
Sleep Med ; 52: 7-13, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30195199

RESUMO

OBJECTIVE: Although being the most specific symptom of narcolepsy type 1 (NT1), cataplexy is currently investigated by clinical interview only, with potential diagnostic pitfalls. Our study aimed at testing the accuracy of an automatic video detection of cataplexy in NT1 patients vs. non-cataplectic subjects undergoing a standardized test with emotional stimulation. METHODS: Fifteen drug-naive NT1 patients and 15 age- and sex-balanced non-cataplectic subjects underwent a standardized video recording procedure including emotional stimulation causing laughter. Video recordings were visually inspected by human scorers to detect three typical cataplexy facial motor patterns (ptosis, mouth opening and head drop), and then analysed by SHIATSU (Semantic-based HIearchical Automatic Tagging of videos by Segmentation using cUts). Expert-based and automatic attack detection was compared in NT1 patients and non-cataplectic subjects. RESULTS: All NT1 patients and none of the non-cataplectic subjects displayed cataplexy during emotional stimulation. Automatic detection correlated well with experts' assessments in NT1 with an overall accuracy of 81%. In non-cataplectic subjects, automatic detection falsely identified cataplexy in two out of 15 (13.3%) subjects who showed active eyes closure during intense laughter as a confounder with ptosis. CONCLUSIONS: Automatic cataplexy detection by applying SHIATSU to a standardized test for video documentation of cataplexy is feasible, with an overall accuracy of 81% compared to human examiners. Further studies are warranted to enlarge the range of elementary motor patterns detected, analyse their temporal/spatial relations and quantify cataplexy for diagnostic purposes.

20.
Sci Rep ; 8(1): 10628, 2018 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-30006563

RESUMO

Narcolepsy is a rare life-long disease that exists in two forms, narcolepsy type-1 (NT1) or type-2 (NT2), but only NT1 is accepted as clearly defined entity. Both types of narcolepsies belong to the group of central hypersomnias (CH), a spectrum of poorly defined diseases with excessive daytime sleepiness as a core feature. Due to the considerable overlap of symptoms and the rarity of the diseases, it is difficult to identify distinct phenotypes of CH. Machine learning (ML) can help to identify phenotypes as it learns to recognize clinical features invisible for humans. Here we apply ML to data from the huge European Narcolepsy Network (EU-NN) that contains hundreds of mixed features of narcolepsy making it difficult to analyze with classical statistics. Stochastic gradient boosting, a supervised learning model with built-in feature selection, results in high performances in testing set. While cataplexy features are recognized as the most influential predictors, machine find additional features, e.g. mean rapid-eye-movement sleep latency of multiple sleep latency test contributes to classify NT1 and NT2 as confirmed by classical statistical analysis. Our results suggest ML can identify features of CH on machine scale from complex databases, thus providing 'ideas' and promising candidates for future diagnostic classifications.

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