Journal of Clinical Sleep Medicine最新文献

Study Objectives: A decrease in REM time during polysomnography (PSG) in patients with obstructive sleep apnea (OSA) can result in underestimation of apnea hypopnea index (AHI). We propose adjusting AHI to normalized REM% in subjects with REM% ≤15% to avoid under diagnosis of OSA. Methods: All children who completed diagnostic PSG from 2016 to 2023 with REM% of ≤ 15% of total TST were selected for adjustment. AHI Adjustment was done by multiplying AHI by a normalization factor (20%)/REM%). Changes in OSA diagnosis and severity were evaluated before vs after adjustment. Intra class comparison and Bland-Altman plots were used to evaluate agreement level of adjusted AHI vs non-adjusted AHI with REM AHI as the reference. P value <0.05 was significant. Results: Of 389 children reviewed, only 79 (20%) children had low REM% of ≤ 15%. Median (range) age was 12.8(0.9-18) years with Male/female ratio 2.3/1. Mean (SD) sleep efficiency was 64.7% (12.3). Mean (SD) REM% was 10.5% (3.4). Median AHI (range) before AHI adjustment was 1.7(0-44) events/hour vs 4.1 (0-74.4) events/hour after AHI adjustment (P<0.001). Adjusted AHI had better agreement with REM- AHI (ICC=0.691; 95% CI: 0.58,0.80) than non-Adjusted AHI (ICC=0.485; 95% CI: 0.39,0.58). AHI adjustment changed diagnosis from normal to mild OSA in 12 (15%) patients, from mild to moderate OSA in 7(9%) patients, and from moderate to severe OSA in 9 (11%) patients (p=0.044). Conclusions: Adjusting AHI in patients with low REM% to a normalized REM% can help avoid underdiagnosis of OSA and/or underestimation of its severity.

Study Objectives: Continuous positive airway pressure (CPAP) is the treatment of choice for obstructive sleep apnea (OSA); however some people have residual respiratory events or require significantly higher CPAP pressure while on therapy. Our objective was to develop predictive models for CPAP outcomes and assess whether the inclusion of physiological traits enhances prediction. Methods: We constructed predictive models from baseline information for subsequent residual apnea-hypopnea index (AHI) and optimal CPAP pressure. We compared models utilizing clinical variables with those incorporating both clinical and physiological factors. Furthermore, we assessed the performance of regression versus machine learning. All performances, including root mean square error (RSME), R-squared, accuracy, and area under the curve (AUC), were evaluated using a five-fold cross validation with ten repeats. Results: For predicting residual AHI, random forest models outperformed regression models, and models that incorporated both clinical and physiological variables also outperformed models using only clinical variables across all performance metrics. Random forest using both clinical features and physiological traits achieved the best performance. In both regression and random forest models, central apnea index is found to be the most important feature in predicting residual AHI. For predicting CPAP pressure, there was no additional predictive value of physiological traits or random forest modeling. Conclusions: Our findings demonstrated that the combined use of clinical and physiological variables yields the most robust predictive models for residual AHI, with random forest models performing best. These findings support the notion that prediction of OSA therapy outcomes may be improved by more flexible models using machine learning, potentially in combination with physiology-based models.

Neurodevelopmental disorders and sleep disturbances share genetic risk factors. DEAF1 genetic variants are associated with rare syndromes in which sleep disturbances are commonly reported, yet the specific sleep disorders in these patients, and the molecular mechanisms underlying this association, are unknown. We aimed to pinpoint specific biological processes that may be disrupted by pathogenic variants in this gene, comparing a list of DEAF1 regulatory target genes with a list of insomnia-associated genes, and using the intersect gene list as the input for pathway enrichment analysis. Thirty-nine DEAF1 regulatory targets were also identified as insomnia-associated genes, and the intersecting gene list was found to be strongly associated with immune processes, ubiquitin-mediated proteolysis pathways, and regulation of the cell cycle. This preliminary study highlights pathways that may be disrupted by DEAF1 pathogenic mutations and might be putative factors underlying the manifestation of insomnia in patients harboring such variants.

Citation: Guerreiro P, Moysés-Oliveira M, Paschalidis M, et al. Sleep disturbances associated with DEAF1 pathogenic variants. J Clin Sleep Med. 2025;21(1):207-210.

Study objectives: Isolated rapid eye movement sleep behavior disorder is a prodromal synucleinopathy, but its conversion rate and subtypes can vary among different cohorts. We report the clinical characteristics and phenoconversion rate of the large single-center isolated rapid eye movement sleep behavior disorder cohort in Korea and compared it to the Montreal cohort.

Methods: This prospective cohort study examined 238 patients with polysomnography confirmed isolated rapid eye movement sleep behavior disorder from Seoul National University Hospital (SNUH) who completed at least 1 follow-up evaluation. We compared the baseline and phenoconversion data of the SNUH cohort to those of 242 isolated rapid eye movement sleep behavior disorder patients in the Montreal cohort.

Results: In the SNUH cohort, age at rapid eye movement sleep behavior disorder diagnosis was similar (66.4 ± 7.8 vs 65.6 ± 8.4, P = .265), but the proportion of men was lower (63.0% vs 74.0%, P = .01), and the duration of follow-up was shorter than that in the Montreal cohort (3.7 ± 2.0 vs 4.8 ± 3.6 years, P < .001). During follow-up, 34 (11.8%) patients in the SNUH cohort converted to neurodegenerative disease: 18 (52.9%) to Parkinson's disease, 9 (26.5%) to dementia with Lewy bodies, and 7 (20.6%) to multiple system atrophy. The conversion rate in the SNUH cohort was 15% after 3 years, 22% after 5 years, and 32% after 7 years, which was significantly lower than that of the Montreal cohort (log-rank test, P = .002). Among phenoconversion subtype, fewer patients in the SNUH group than in the Montreal group converted to dementia with Lewy bodies (Gray's test P = .001).

Conclusions: Through a comparative analysis between the SNUH and Montreal cohorts, we identified a significant difference in phenoconversion rates, particularly for dementia with Lewy bodies patients. These findings underscore the importance of further research into the underlying factors, such as racial and geographical factors contributing to such disparities.

Citation: Byun J-I, Sunwoo J-S, Shin YW, et al. Clinical characteristics and phenoconversion in isolated REM sleep behavior disorder: a prospective single-center study in Korea, compared with Montreal cohort. J Clin Sleep Med. 2025;21(1):81-88.

Little is documented about the frequency and management of allergic reactions to hypoglossal nerve stimulator implants. This case report describes a 69-year-old female with obstructive sleep apnea who received a hypoglossal nerve stimulator device and had an adverse reaction concerning for an allergic reaction to the medical device. The complication was managed via topical steroids, and although the patient's symptoms initially resolved she experiences continued intermittent maculopapular pruritic rashes approximately once per week. This case report details the patient's presentation, including progression and management, while also highlighting the diagnostic challenges in identifying allergic reactions to medical implants and offering considerations for future management.

Citation: Gouldman KP, Yu JL. Allergic reaction to hypoglossal nerve stimulator: a case report. J Clin Sleep Med. 2025;21(1):211-213.

Study objectives: Severe chronic insomnia is a common sleep disorder that is mostly persistent and needs to be treated. Pharmacologic treatment options and guidelines are sparse, particularly for long-term treatment. Our study aimed to investigate a graduated therapy scheme for moderate-to-severe chronic insomnia in practice, considering the effects on self-reported sleep quality and quality of life.

Methods: Patients with moderate-to-severe chronic insomnia were given appropriate medication according to a graduated therapy scheme, ranging from l-tryptophan (as the first choice, least potent) to Z-drugs and combination therapies (as the last option, most potent). Each step of the graduated therapy scheme was tested for at least 4 weeks. Data related to sleep and quality of life were collected in questionnaire form (Insomnia Severity Index, Pittsburgh Sleep Quality Index, Beck Depression Inventory, second edition, and Short Form 36 Health Survey) at baseline and during the course of the treatment after 1, 3, 6, 9, and 12 months.

Results: Of 86 eligible patients, 60.5% started treatment with l-tryptophan and 8.1% with melatonin. After 3 months, 12.5% were still taking l-tryptophan and 12.5% were taking melatonin. There was a significant decrease in mean Insomnia Severity Index, Pittsburgh Sleep Quality Index, Beck Depression Inventory, second edition, and Short Form 36 Health Survey scores after 3 months of treatment for all patients in the study (n = 64). After 6 months, 22.2% were still taking l-tryptophan, melatonin, or agomelatine, and the remainder had switched to more potent drugs such as antidepressants, hypnotics, daridorexant, or combination therapies.

Conclusions: A significant number of patients already responded favorably to mild sleep medications, whereas others demonstrated a need for more potent treatments. Ongoing monitoring will evaluate the long-term effectiveness of both approaches.

Clinical trial registration: Registry: German Clinical Trials Register; Name: Schlafqualität und Lebensqualität mit einer medikamentösen Langzeittherapie bei moderater bis schwerer Insomnie; URL: https://drks.de/search/de/trial/DRKS00033175; Identifier: DRKS00033175.

Citation: Boer J, Toncar T, Stange A, Rosenblum L, Fietze I. Effect of graduated drug therapy for moderate-to-severe chronic insomnia on the severity of disease: an observational study in Germany. J Clin Sleep Med. 2025;21(1):33-45.