Abstract:Frequent slow/mixed arousals in SWS and complex behaviors during vPSG are strongly associated with DOAs, and could be promising biomarkers for the diagnosis of non-rapid eye movement parasomnias. Ann Neurol 2018;83:341-351.
“…During N3 sleep, spontaneous startles were associated with sleep terrors and persistent slow postarousal EEG activity, a pattern typically observed in disorders of arousal (DOA), these parasomnias being previously reported in hyperekplexia patients. Both sisters were just above the slow/mixed arousal index but below the threshold of slow wave sleep fragmentation index for DOA . Other motor behaviors involving the face and the upper limbs were found in REM sleep, together with increased phasic and tonic chin mentalis EMG activities in both patients.…”
Section: Discussionmentioning
confidence: 76%
“…Sleep stages, microarousals, periodic limb movements, and respiratory events were scored manually according to standard criteria. A particular attention was paid to motor behaviors, tonic and phasic chin muscle activities during REM sleep, and N3 sleep fragmentation . Results were compared to normative values obtained in 15 healthy controls (10 males, median age 24 years, range 19–30 years).…”
We report sleep phenotypes and polysomnographic findings in two siblings with a novel homozygous variant of the GLRA1 gene causing hereditary hyperekplexia (HH). Both sisters had startles during wakefulness and sleep, sleep terrors, and one had symptoms of REM sleep behavior disorder (RBD). Frequent startles were found in NREM sleep associated with NREM parasomnias in deep sleep. In REM sleep, both had motor behaviors and increased phasic/tonic muscle activities confirming RBD. Clonazepam improved startles, motor behaviors, and muscle activities in REM sleep. Impaired glycinergic transmission in human HH could be involved in the pathophysiology of RBD and NREM parasomnias.
“…During N3 sleep, spontaneous startles were associated with sleep terrors and persistent slow postarousal EEG activity, a pattern typically observed in disorders of arousal (DOA), these parasomnias being previously reported in hyperekplexia patients. Both sisters were just above the slow/mixed arousal index but below the threshold of slow wave sleep fragmentation index for DOA . Other motor behaviors involving the face and the upper limbs were found in REM sleep, together with increased phasic and tonic chin mentalis EMG activities in both patients.…”
Section: Discussionmentioning
confidence: 76%
“…Sleep stages, microarousals, periodic limb movements, and respiratory events were scored manually according to standard criteria. A particular attention was paid to motor behaviors, tonic and phasic chin muscle activities during REM sleep, and N3 sleep fragmentation . Results were compared to normative values obtained in 15 healthy controls (10 males, median age 24 years, range 19–30 years).…”
We report sleep phenotypes and polysomnographic findings in two siblings with a novel homozygous variant of the GLRA1 gene causing hereditary hyperekplexia (HH). Both sisters had startles during wakefulness and sleep, sleep terrors, and one had symptoms of REM sleep behavior disorder (RBD). Frequent startles were found in NREM sleep associated with NREM parasomnias in deep sleep. In REM sleep, both had motor behaviors and increased phasic/tonic muscle activities confirming RBD. Clonazepam improved startles, motor behaviors, and muscle activities in REM sleep. Impaired glycinergic transmission in human HH could be involved in the pathophysiology of RBD and NREM parasomnias.
“…Some EEG markers (hypersynchronous delta sleep activities and spectral analysis) lack specificity, but recently, an index of arousals plus awakenings (greater than 6.8 per N3 time) has proven sensitive (79%) and specific (82%) for distinguishing patients referred for DOA from healthy participants. 6 A slow/mixed arousal index (greater than 2.5 per N3 time) was even more sensitive (94%) and totally specific (100%). However, this analysis requires highly trained sleep scorers and 8 EEG channels.…”
Study Objectives: This case-control study aimed to identify and validate behavioral markers supporting the diagnosis of disorders of arousal (DOA) with video-polysomnography. Methods: All behaviors associated with 1,335 episodes of N3 interruptions were compared in 52 adult patients with DOA vs. 52 participants without DOA (healthy controls and patients with insomnia, hypersomnia or sleep apnea syndrome). Results: Patients with DOA had more frequent (5.1 ± 2.4 vs. 3.4 ± 1.9 interruptions/N3 time) and longer (35.8 ± 33 vs. 23.1 ± 21.4 sec) arousals and awakenings from N3 than controls. In the DOA group, the onset of behaviors was more abrupt, and behaviors including eye opening (69 vs. 16%), head raising (41 vs. 9%), visually exploring the environment (27 vs. 1%), expression of fear/surprise (21 vs. 0%), speaking (18 vs. 0.3%), trunk raising (13 vs. 0.3%), and interacting with the environment (13 vs. 0.5%), were (unlike quiet, comfort behaviors) more frequent than in controls. A cutoff of 2 or more N3 interruptions containing eye opening yielded a sensitivity of 94.2% and a specificity of 76.9% for a DOA diagnosis. This accuracy was confirmed in a second set of data (second night of monitoring). Behaviors including an expression of fear/surprise (67.3%), sitting (32.7%), screaming, and standing up were specific to patients with DOA. Conclusion: A simple, behavioral video marker of behavioral reactions during N3 interruption (i.e., opening the eyes at least two times in the same night) was sensitive, specific and reproducible for discriminating patients with DOA from sleep laboratory controls.
“…Although this occurrence is rare [91], the ICSD-3 [5] states that when PSG does identify arousals out of N3 sleep (usually in the form of confusional arousal, very rarely out-of-bed attempts), this can be considered a contributing factor to the clinical diagnosis of NREM parasomnias. A number of recent studies reported, somewhat surprisingly, episodes of NREM parasomnias in roughly 60% of the monitored patients during a night of PSG monitoring [92,93]. It remains unclear why some studies find a low prevalence of episodes during laboratory PSG assessments, while others find a high prevalence.…”
Our understanding of non-rapid eye movement (NREM) parasomnias has improved considerably over the last two decades, with research that characterises and explores the causes of these disorders. However, our understanding is far from complete. The aim of this paper is to provide an updated review focusing on adult NREM parasomnias and highlighting new areas in NREM parasomnia research from the recent literature. We outline the prevalence, clinical characteristics, role of onset, pathophysiology, role of predisposing, priming and precipitating factors, diagnostic criteria, treatment options and medico-legal implications of adult NREM parasomnias.
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