Journal of Clinical Sleep Medicine最新文献

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Bilateral hypoglossal nerve stimulation for obstructive sleep apnea: a nonrandomized clinical trial. 双侧舌下神经刺激治疗阻塞性睡眠呼吸暂停:一项非随机临床试验。
IF 3.5 3区 医学
Journal of Clinical Sleep Medicine Pub Date : 2025-07-24 DOI: 10.5664/jcsm.11822
B Tucker Woodson, David T Kent, Colin Huntley, Melyssa K Hancock, Douglas J Van Daele, Maurits S Boon, Tod C Huntley, Sam Mickelson, M Boyd Gillespie, Maria V Suurna, Ashutosh Kacker, Asim Roy, Stuart MacKay, Kirk P Withrow, Raj C Dedhia, Phillip Huyett, Clemens Heiser, Sylvie di Nicola, Fatima Makori, Olivier M Vanderveken, Tapan A Padyha, Ulysses J Magalang, Eugene Chio, Eric J Kezirian, Richard Lewis
{"title":"Bilateral hypoglossal nerve stimulation for obstructive sleep apnea: a nonrandomized clinical trial.","authors":"B Tucker Woodson, David T Kent, Colin Huntley, Melyssa K Hancock, Douglas J Van Daele, Maurits S Boon, Tod C Huntley, Sam Mickelson, M Boyd Gillespie, Maria V Suurna, Ashutosh Kacker, Asim Roy, Stuart MacKay, Kirk P Withrow, Raj C Dedhia, Phillip Huyett, Clemens Heiser, Sylvie di Nicola, Fatima Makori, Olivier M Vanderveken, Tapan A Padyha, Ulysses J Magalang, Eugene Chio, Eric J Kezirian, Richard Lewis","doi":"10.5664/jcsm.11822","DOIUrl":"https://doi.org/10.5664/jcsm.11822","url":null,"abstract":"<p><strong>Study objectives: </strong>To evaluate the safety and efficacy of a novel bilateral hypoglossal nerve stimulation (HNS<sub>BL</sub>) device for the treatment of OSA.</p><p><strong>Methods: </strong>Adult patients with moderate-to-severe OSA who refused, failed, or did not tolerate positive airway pressure therapy underwent implantation and nightly use of HNS<sub>BL</sub>. The co-primary endpoints at 12 months were 1) a minimum of 50% reduction in the 4% apnea-hypopnea index (AHI) from baseline with a final AHI of less than 20 events/h, and 2) a minimum of 25% reduction in the 4% oxygen desaturation index (ODI). Objective secondary endpoints included changes in mean AHI, ODI, and sleep time with blood oxygen saturation less than 90% (T90). Subjective secondary endpoints included changes in Epworth sleepiness score (ESS), the short Functional Outcomes of Sleep Questionnaire (FOSQ-10) score, the Symptoms of Nocturnal Obstruction and Related Events (SNORE-25) score, and bedpartner assessment of snoring.</p><p><strong>Results: </strong>HNS<sub>BL</sub> was implanted in 113 participants. Eleven SAEs occurred in 10 (8.7%) participants. The co-primary endpoints were completed by 89 (77.4%) participants. AHI and ODI responses were achieved in 63.5% (73/115, p = 0.002) and 71.3% (82/115, p< 0.001), respectively. Secondary endpoint analysis revealed significant changes in mean AHI (-18.3±11.8 events/h, p<0.001), ODI (-17.7±14.6 events/h, p<0.001), and T90 (6.9±10.7%, p<0.001). Significant changes were observed in all secondary endpoints (p<0.001).</p><p><strong>Conclusions: </strong>This pivotal clinical trial of HNS<sub>BL</sub> demonstrated an acceptable safety profile with clinically significant improvements in OSA severity and quality-of-life metrics. HNS<sub>BL</sub> is a promising new treatment option for select patients with OSA.</p><p><strong>Clinical trial registration: </strong>Registry: ClinicalTrials.gov; Name: Dual-sided Hypoglossal NeRvE StimulAtion for the TreatMent of Obstructive Sleep Apnea (DREAM); Identifier: NCT03868618; URL: https://clinicaltrials.gov/study/NCT03868618.</p>","PeriodicalId":50233,"journal":{"name":"Journal of Clinical Sleep Medicine","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Modified uvulopalatopharyngoplasty in modern obstructive sleep apnea treatment: a narrative review. 改良悬雍垂腭咽成形术在现代阻塞性睡眠呼吸暂停治疗中的应用综述。
IF 3.5 3区 医学
Journal of Clinical Sleep Medicine Pub Date : 2025-07-11 DOI: 10.5664/jcsm.11810
Thomas M Kaffenberger, Ryan J Soose, B Tucker Woodson, Stuart G MacKay, Edward M Weaver, Charles W Atwood, Patrick J Strollo
{"title":"Modified uvulopalatopharyngoplasty in modern obstructive sleep apnea treatment: a narrative review.","authors":"Thomas M Kaffenberger, Ryan J Soose, B Tucker Woodson, Stuart G MacKay, Edward M Weaver, Charles W Atwood, Patrick J Strollo","doi":"10.5664/jcsm.11810","DOIUrl":"https://doi.org/10.5664/jcsm.11810","url":null,"abstract":"<p><strong>Study objectives: </strong>Obstructive sleep apnea (OSA) is a prevalent disorder associated with significant health risks, often managed with continuous positive airway pressure (CPAP). However, CPAP adherence remains suboptimal, prompting interest in surgical alternatives. Traditional uvulopalatopharyngoplasty (UPPP), introduced in 1981, has demonstrated limited success and notable side effects, leading to skepticism regarding its utility in OSA treatment. However, advancements in patient selection and surgical technique have led to the development of modified UPPP procedures, including expansion sphincter pharyngoplasty, barbed reposition pharyngoplasty, and the Australian modified UPPP.</p><p><strong>Methods: </strong>In this narrative review, we focus on the evolution of the palatal surgery field over the past two decades.</p><p><strong>Results: </strong>Recent randomized controlled trials and observational cohort studies have shown that modified UPPP variants can significantly reduce apnea-hypopnea index (AHI), improve symptoms, and even offer potential cardiovascular benefits. These reconstructive approaches have demonstrated consistently improved success rates, enhanced patient-reported outcomes, and reduced postoperative morbidity compared to traditional excisional UPPP.</p><p><strong>Conclusions: </strong>While controversies persist regarding patient selection, long-term durability, and the role of palate surgery in the era of hypoglossal nerve stimulation, emerging evidence supports modified UPPP as a viable alternative for appropriately selected OSA patients. This review underscores the evolution of palatal surgery, highlighting its role in a personalized, multimodal approach to OSA management, particularly for CPAP-intolerant patients seeking durable and effective treatment.</p>","PeriodicalId":50233,"journal":{"name":"Journal of Clinical Sleep Medicine","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cutting the weight, restoring the breath: bariatric surgery in obesity hypoventilation syndrome. 减轻体重,恢复呼吸:肥胖低通气综合征的减肥手术。
IF 3.5 3区 医学
Journal of Clinical Sleep Medicine Pub Date : 2025-07-11 DOI: 10.5664/jcsm.11830
Nathan C Nowalk, Maria Paola Arellano-Maric, Babak Mokhlesi
{"title":"Cutting the weight, restoring the breath: bariatric surgery in obesity hypoventilation syndrome.","authors":"Nathan C Nowalk, Maria Paola Arellano-Maric, Babak Mokhlesi","doi":"10.5664/jcsm.11830","DOIUrl":"https://doi.org/10.5664/jcsm.11830","url":null,"abstract":"","PeriodicalId":50233,"journal":{"name":"Journal of Clinical Sleep Medicine","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sleep apnea, how do we help thee? Let us count the ways. 睡眠呼吸暂停,我们如何帮助你?让我们细数一下。
IF 3.5 3区 医学
Journal of Clinical Sleep Medicine Pub Date : 2025-07-08 DOI: 10.5664/jcsm.11816
Loretta Colvin, Nancy A Collop
{"title":"Sleep apnea, how do we help thee? Let us count the ways.","authors":"Loretta Colvin, Nancy A Collop","doi":"10.5664/jcsm.11816","DOIUrl":"https://doi.org/10.5664/jcsm.11816","url":null,"abstract":"","PeriodicalId":50233,"journal":{"name":"Journal of Clinical Sleep Medicine","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Changing outcomes: trauma, disordered sleep, and suicide. 改变结果:创伤、睡眠紊乱和自杀。
IF 3.5 3区 医学
Journal of Clinical Sleep Medicine Pub Date : 2025-07-08 DOI: 10.5664/jcsm.11818
J F Pagel
{"title":"Changing outcomes: trauma, disordered sleep, and suicide.","authors":"J F Pagel","doi":"10.5664/jcsm.11818","DOIUrl":"https://doi.org/10.5664/jcsm.11818","url":null,"abstract":"","PeriodicalId":50233,"journal":{"name":"Journal of Clinical Sleep Medicine","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Artificial intelligence may fill the gap of underdiagnosis in sleep medicine: the role of ChatGPT-4. 人工智能可能填补睡眠医学诊断不足的空白:ChatGPT-4的作用。
IF 3.5 3区 医学
Journal of Clinical Sleep Medicine Pub Date : 2025-07-08 DOI: 10.5664/jcsm.11820
Ram Kishun Verma
{"title":"Artificial intelligence may fill the gap of underdiagnosis in sleep medicine: the role of ChatGPT-4.","authors":"Ram Kishun Verma","doi":"10.5664/jcsm.11820","DOIUrl":"https://doi.org/10.5664/jcsm.11820","url":null,"abstract":"","PeriodicalId":50233,"journal":{"name":"Journal of Clinical Sleep Medicine","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The efficacy and safety of an intraoral negative air pressure device in patients with obstructive sleep apnea: a systematic review and meta-analysis. 阻塞性睡眠呼吸暂停患者口服负压装置的有效性和安全性:一项系统综述和荟萃分析。
IF 3.5 3区 医学
Journal of Clinical Sleep Medicine Pub Date : 2025-07-03 DOI: 10.5664/jcsm.11812
Charoiboon Puvatanond, Navarat Kasemsuk, Wish Banhiran
{"title":"The efficacy and safety of an intraoral negative air pressure device in patients with obstructive sleep apnea: a systematic review and meta-analysis.","authors":"Charoiboon Puvatanond, Navarat Kasemsuk, Wish Banhiran","doi":"10.5664/jcsm.11812","DOIUrl":"https://doi.org/10.5664/jcsm.11812","url":null,"abstract":"<p><strong>Study objectives: </strong>To evaluate the efficacy and safety of intraoral negative air pressure devices (INAP) in patients with obstructive sleep apnea (OSA).</p><p><strong>Methods: </strong>A systematic search without language restrictions was conducted in the Ovid Medline, Embase, and Scopus databases to identify all original studies on the effects of INAP devices in adult OSA patients who reported the apnea-hypopnea index (AHI). The final update was made on 7 December 2024. The risk-of-bias assessment tool for nonrandomized studies (RoBANS) was applied for quality assessment. RevMan was used to conduct statistical analysis.</p><p><strong>Results: </strong>Of the 72 originally retrieved articles, 9 studies were included that involved a total of 445 individuals. Meta-analysis of the pooled data showed that, following INAP treatment, the participants had a significant improvement in mean AHI with a mean difference (MD) of 12.4 (95%CI, 7.5 to 17.3), minimum oxygen saturation with MD of -3.6 (95%CI, -5.3 to -1.8), Epworth sleepiness scale with MD of 2.64 (95% CI, 0.23 to 5.05) and oxygen desaturation index (ODI) with MD of 10.8 (95%CI, 7.2 to 14.3). Participants also had a trend of improvement in the percentages of time spent with oxygen saturation ≥90% after treatment but did not reach statistical significance. The most common adverse events related to the device were oral tissue discomfort and irritation. No serious adverse events were reported.</p><p><strong>Conclusions: </strong>Treatment with INAP devices significantly improved AHI and ODI. INAP may be a suitable treatment option for selected patients with OSA.</p><p><strong>Systematic review registration: </strong>Registry: PROSPERO; Identifier: CRD42024510535.</p>","PeriodicalId":50233,"journal":{"name":"Journal of Clinical Sleep Medicine","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rebreathing during CPAP therapy and its implications in obstructive sleep apnea. CPAP治疗期间的再呼吸及其对阻塞性睡眠呼吸暂停的影响。
IF 3.5 3区 医学
Journal of Clinical Sleep Medicine Pub Date : 2025-07-03 DOI: 10.5664/jcsm.11802
William H Noah, David P White, Bernard Hete, Ludovico Messineo
{"title":"Rebreathing during CPAP therapy and its implications in obstructive sleep apnea.","authors":"William H Noah, David P White, Bernard Hete, Ludovico Messineo","doi":"10.5664/jcsm.11802","DOIUrl":"https://doi.org/10.5664/jcsm.11802","url":null,"abstract":"<p><p>Elevated environmental CO<sub>2</sub> levels can have important health impacts, including increased anxiety, impaired high-level cognitive performance, reduced sleep quality, and decreased next-day alertness, especially in children. Bedrooms, where people spend a third of their lives, are often poorly ventilated, further exacerbating CO<sub>2</sub> exposure during sleep. These symptoms may be of particular concern for individuals with obstructive sleep apnea (OSA) treated with continuous positive pressure (CPAP) as a result of CO<sub>2</sub> trapping within the mask, which is dependent on environmental levels, and circuit CO<sub>2</sub> rebreathing<sub>.</sub> Additionally, lower inhaled oxygen concentrations may be encountered when exhaled gases are rebreathed from the circuit. Low expiratory PAP, high ventilation levels (e.g., in large individuals or at altitude), and small exhaust valves increase rebreathing risk, which can self-propagate due to patient attempts to compensate by increasing tidal volume. Elevated environmental CO<sub>2</sub> may further exacerbate the clinical consequences of rebreathing, including reduced CPAP adherence. While strategies including higher expiratory PAP or larger exhaust valves help mitigate CO<sub>2</sub> buildup, they can also lead to increased noise which may potentially affect adherence. With this work, we review the available evidence on the thresholds and effects of classroom, office, bedroom and rebreathed CO<sub>2</sub> levels, in healthy and OSA individuals, both adults and children. Importantly, we provide the often-overlooked link between environmental CO<sub>2</sub> concentrations and circuit rebreathing for OSA patients, underscoring the need to optimize current indoor ventilation standards and thresholds for mask-based CO<sub>2</sub> inhalation, as well as CPAP technology to maximize adherence, abate CO<sub>2</sub>/hypoxic exposure, and improve health outcomes.</p>","PeriodicalId":50233,"journal":{"name":"Journal of Clinical Sleep Medicine","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A proof-of-concept study of pitolisant for excessive daytime sleepiness in patients with Prader-Willi syndrome. 一项普瑞德-威利综合征患者日间过度嗜睡的吡托抗药的概念验证研究。
IF 3.5 3区 医学
Journal of Clinical Sleep Medicine Pub Date : 2025-07-03 DOI: 10.5664/jcsm.11800
Amee Revana, Rakesh Bhattacharjee, Jennifer L Miller, Aaron Chidekel, Priya Khanna, Sarayu Ratnam, Grant Runyan, Eric Bauer, Krystle Davis Rapchak, David Seiden, Kumar Budur, Jeffrey M Dayno
{"title":"A proof-of-concept study of pitolisant for excessive daytime sleepiness in patients with Prader-Willi syndrome.","authors":"Amee Revana, Rakesh Bhattacharjee, Jennifer L Miller, Aaron Chidekel, Priya Khanna, Sarayu Ratnam, Grant Runyan, Eric Bauer, Krystle Davis Rapchak, David Seiden, Kumar Budur, Jeffrey M Dayno","doi":"10.5664/jcsm.11800","DOIUrl":"https://doi.org/10.5664/jcsm.11800","url":null,"abstract":"<p><strong>Study objectives: </strong>The majority of patients with Prader-Willi syndrome (PWS) experience excessive daytime sleepiness (EDS). This study evaluated the effects of pitolisant, a histamine 3 (H<sub>3</sub>)-receptor antagonist/inverse agonist that promotes wakefulness, in patients with PWS and EDS.</p><p><strong>Methods: </strong>In this phase 2, randomized, double-blind, placebo-controlled, proof-of-concept study, patients ages 6-65 years with a confirmed diagnosis of PWS with EDS were randomized 1:1:1 to receive lower-dose pitolisant (children/adolescents/adults, 8.9/13.35/17.8 mg), higher-dose pitolisant (children/adolescents/adults, 17.8/26.7/35.6 mg), or matching placebo for 11 weeks (3-week titration/8-week maintenance). The primary endpoint was change from baseline to Week 11 in Epworth Sleepiness Scale for Children and Adolescents (ESS-CHAD; parent/caregiver version) score. Other measures included the Caregiver Global Impression of Severity for EDS, Aberrant Behavior Checklist-C (ABC-C), and Hyperphagia Questionnaire for Clinical Trials (HQ-CT).</p><p><strong>Results: </strong>Of 65 patients randomized and treated, 59 (90.8%) completed the double-blind phase. Least-squares (LS) mean improvement from baseline to Week 11 in ESS-CHAD score was greater for higher-dose pitolisant (-5.0) versus placebo (-3.9; LS mean [SE] difference, -1.1 [1.52]), but not for lower-dose pitolisant (-3.5) versus placebo (LS mean [SE] difference, 0.5 [1.6].The largest effect of pitolisant was seen in children (ages 6 to <12 years; LS mean [SE] difference for higher-dose pitolisant versus placebo, -3.5 [1.90]). Improvements were observed across other measures, especially in the higher-dose pitolisant group, including LS mean (SE) change of -5.5 (1.2) on the irritability domain of the ABC-C and -3.1 (1.0) on the HQ-CT. The most common AEs in pitolisant-treated patients (doses pooled) were anxiety, irritability, and headache (11.9% each), consistent with the known safety profile of pitolisant.</p><p><strong>Conclusions: </strong>Results of this proof-of-concept study support further evaluation of pitolisant in patients with PWS and EDS.</p><p><strong>Clinical trial registration: </strong>Registry: ClinicalTrials.gov; Identifier: NCT04257929.</p>","PeriodicalId":50233,"journal":{"name":"Journal of Clinical Sleep Medicine","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome. 图像:先天性中枢性低通气综合征中睡眠相关性低通气的非典型解决。
IF 3.5 3区 医学
Journal of Clinical Sleep Medicine Pub Date : 2025-07-01 DOI: 10.5664/jcsm.11644
Michelle Yoo, Amit Shah, Haitham Shahrour, Hong Li, Ajay S Kasi
{"title":"Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome.","authors":"Michelle Yoo, Amit Shah, Haitham Shahrour, Hong Li, Ajay S Kasi","doi":"10.5664/jcsm.11644","DOIUrl":"10.5664/jcsm.11644","url":null,"abstract":"<p><p>Paired-like homeobox 2B gene variants cause congenital central hypoventilation syndrome (CCHS) characterized by abnormal ventilatory control necessitating lifelong assisted ventilation (AV). We report a 3-year-old female who presented with apnea, hypoxemia, hypoventilation requiring AV, and Hirschsprung's disease during infancy followed by resolution of hypoventilation. At 3 weeks, polysomnography showed obstructive and central sleep apnea, oxygen desaturations, and hypoventilation. A novel, heterozygous, paternal-inherited 2.77-Mb deletion in chromosome 4p14-p13 resulted in deletion of the entire paired-like homeobox 2B gene, confirming the diagnosis of CCHS. Paired-like homeobox 2B whole-gene deletions are categorized as nonpolyalanine repeat mutations. AV via tracheostomy was utilized during sleep. At 2.8 years, diagnostic polysomnography was performed due to suboptimal adherence to AV that demonstrated central sleep apnea without hypoxemia or hypoventilation. There were no signs of chronic hypoventilation such as polycythemia, elevated serum bicarbonate, or pulmonary hypertension. CCHS is characterized by lifelong hypoventilation requiring AV. Despite a classic presentation of CCHS requiring early tracheostomy, polysomnography at 3 years of age indicated an absence of hypoventilation that represents a unique and atypical presentation in CCHS.</p><p><strong>Citation: </strong>Yoo M, Shah A, Shahrour H, Li H, Kasi AS. Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome. <i>J Clin Sleep Med</i>. 2025;21(7):1327-1331.</p>","PeriodicalId":50233,"journal":{"name":"Journal of Clinical Sleep Medicine","volume":" ","pages":"1327-1331"},"PeriodicalIF":3.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12225278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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