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Search Results (277)

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Keywords = Obstructive Sleep Apnea Syndrome (OSAS)

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38 pages, 471 KiB  
Review
Sleep Disorders and Stroke: Pathophysiological Links, Clinical Implications, and Management Strategies
by Jamir Pitton Rissardo, Ibrahim Khalil, Mohamad Taha, Justin Chen, Reem Sayad and Ana Letícia Fornari Caprara
Med. Sci. 2025, 13(3), 113; https://doi.org/10.3390/medsci13030113 - 5 Aug 2025
Abstract
Sleep disorders and stroke are intricately linked through a complex, bidirectional relationship. Sleep disturbances such as obstructive sleep apnea (OSA), insomnia, and restless legs syndrome (RLS) not only increase the risk of stroke but also frequently emerge as consequences of cerebrovascular events. OSA, [...] Read more.
Sleep disorders and stroke are intricately linked through a complex, bidirectional relationship. Sleep disturbances such as obstructive sleep apnea (OSA), insomnia, and restless legs syndrome (RLS) not only increase the risk of stroke but also frequently emerge as consequences of cerebrovascular events. OSA, in particular, is associated with a two- to three-fold increased risk of incident stroke, primarily through mechanisms involving intermittent hypoxia, systemic inflammation, endothelial dysfunction, and autonomic dysregulation. Conversely, stroke can disrupt sleep architecture and trigger or exacerbate sleep disorders, including insomnia, hypersomnia, circadian rhythm disturbances, and breathing-related sleep disorders. These post-stroke sleep disturbances are common and significantly impair rehabilitation, cognitive recovery, and quality of life, yet they remain underdiagnosed and undertreated. Early identification and management of sleep disorders in stroke patients are essential to optimize recovery and reduce the risk of recurrence. Therapeutic strategies include lifestyle modifications, pharmacological treatments, medical devices such as continuous positive airway pressure (CPAP), and emerging alternatives for CPAP-intolerant individuals. Despite growing awareness, significant knowledge gaps persist, particularly regarding non-OSA sleep disorders and their impact on stroke outcomes. Improved diagnostic tools, broader screening protocols, and greater integration of sleep assessments into stroke care are urgently needed. This narrative review synthesizes current evidence on the interplay between sleep and stroke, emphasizing the importance of personalized, multidisciplinary approaches to diagnosis and treatment. Advancing research in this field holds promise for reducing the global burden of stroke and improving long-term outcomes through targeted sleep interventions. Full article
20 pages, 3151 KiB  
Article
Intermittent Hypoxia Induces Cognitive Dysfunction and Hippocampal Gene Expression Changes in a Mouse Model of Obstructive Sleep Apnea
by Kenta Miyo, Yuki Uchida, Ryota Nakano, Shotaro Kamijo, Masahiro Hosonuma, Yoshitaka Yamazaki, Hikaru Isobe, Fumihiro Ishikawa, Hiroshi Onimaru, Akira Yoshikawa, Shin-Ichi Sakakibara, Tatsunori Oguchi, Takuya Yokoe and Masahiko Izumizaki
Int. J. Mol. Sci. 2025, 26(15), 7495; https://doi.org/10.3390/ijms26157495 (registering DOI) - 3 Aug 2025
Viewed by 67
Abstract
Obstructive sleep apnea syndrome (OSAS) is characterized by cycles of decreased blood oxygen saturation followed by reoxygenation due to transient apnea. Cognitive dysfunction is a complication of OSAS, but its mechanisms remain unclear. Eight-week-old C57BL/6J mice were exposed to intermittent hypoxia (IH) to [...] Read more.
Obstructive sleep apnea syndrome (OSAS) is characterized by cycles of decreased blood oxygen saturation followed by reoxygenation due to transient apnea. Cognitive dysfunction is a complication of OSAS, but its mechanisms remain unclear. Eight-week-old C57BL/6J mice were exposed to intermittent hypoxia (IH) to model OSAS, and cognitive function and hippocampal gene expression were analyzed. Three groups were maintained for 28 days: an IH group (oxygen alternating between 10 and 21% in 2 min cycles, 8 h/day), sustained hypoxia group (SH) (10% oxygen, 8 h/day), and control group (21% oxygen). Behavioral tests and RNA sequencing (RNA-seq) analysis were performed. While Y-maze test results showed no differences, the IH group demonstrated impaired memory and learning in passive avoidance tests compared to control and SH groups. RNA-seq revealed coordinated suppression of mitochondrial function genes and oxidative stress response pathways, specifically in the IH group. RT-qPCR showed decreased Lars2, Hmcn1, and Vstm2l expression in the IH group. Pathway analysis showed the suppression of the KEAP1-NFE2L2 antioxidant pathway in the IH group vs. the SH group. Our findings demonstrate that IH induces cognitive dysfunction through suppression of the KEAP1-NFE2L2 antioxidant pathway and downregulation of mitochondrial genes (Lars2, Vstm2l), leading to oxidative stress and mitochondrial dysfunction. These findings advance our understanding of the molecular basis underlying OSAS-related cognitive impairment. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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13 pages, 456 KiB  
Review
The Role of Obstructive Sleep Apnea in Pulmonary Hypertension Associated with Lung Diseases (Group 3 Pulmonary Hypertension): A Narrative Review
by Athiwat Tripipitsiriwat, Atul Malhotra, Hannah Robertson, Nick H. Kim, Jenny Z. Yang and Janna Raphelson
J. Clin. Med. 2025, 14(15), 5442; https://doi.org/10.3390/jcm14155442 - 1 Aug 2025
Viewed by 519
Abstract
Obstructive sleep apnea (OSA) could increase pulmonary artery pressure. However, the clinical consequences vary, mainly depending on comorbidities. Patients with pulmonary hypertension associated with lung diseases (World Health Organization (WHO) Group 3 pulmonary hypertension) are particularly vulnerable increases in pulmonary artery pressure. Managing [...] Read more.
Obstructive sleep apnea (OSA) could increase pulmonary artery pressure. However, the clinical consequences vary, mainly depending on comorbidities. Patients with pulmonary hypertension associated with lung diseases (World Health Organization (WHO) Group 3 pulmonary hypertension) are particularly vulnerable increases in pulmonary artery pressure. Managing pulmonary hypertension in this specific patient population presents a considerable challenge. While positive airway pressure therapy for OSA has shown promise in improving pulmonary hemodynamics in patients with obesity hypoventilation syndrome and chronic obstructive pulmonary disease, evidence is lacking for similar improvements in those with other pulmonary diseases and hypoventilation disorders. Furthermore, pulmonary-artery-specific therapies may carry a risk of clinical worsening in this group. Weight management and new pharmacotherapy have together emerged as a crucial intervention, demonstrating benefits for both OSA and pulmonary hemodynamics. We reviewed key studies that provide insights into the influence of OSA on WHO Group 3 pulmonary hypertension and the clinical management of both conditions. Full article
(This article belongs to the Section Endocrinology & Metabolism)
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12 pages, 2409 KiB  
Review
Tumors of the Parapharyngeal Space Presenting with Obstructive Sleep Apnea: A Case Report and Literature Review
by Luca Cerri, Francesco Giombi, Michele Cerasuolo, Gian Marco Pace, Anna Losurdo, Giuseppe Lunardi, Francesco Grecchi, Elena Volpini and Luca Malvezzi
J. Pers. Med. 2025, 15(8), 331; https://doi.org/10.3390/jpm15080331 - 28 Jul 2025
Viewed by 261
Abstract
Introduction: Obstructive sleep apnea syndrome (OSAS) is caused by anatomical and non-anatomical factors which lead to upper airway (UA) obstruction during sleep. Intrinsic UA collapse is the most frequent determinant of OSA. In the era of personalized medicine, adopting a tailored diagnostic [...] Read more.
Introduction: Obstructive sleep apnea syndrome (OSAS) is caused by anatomical and non-anatomical factors which lead to upper airway (UA) obstruction during sleep. Intrinsic UA collapse is the most frequent determinant of OSA. In the era of personalized medicine, adopting a tailored diagnostic approach is essential to rule out secondary causes of UA collapse, particularly those stemming from extrinsic anatomical factors. Although being rarely considered in the differential diagnosis, space-occupying lesions of deep cervical spaces such as the parapharyngeal space (PPS) may be responsible for airway obstruction and lead to OSAS. Objective: This study aimed to present an atypical case of OSAS caused by extrinsic PPS compression, outlining the relevance of modern personalized medicine in the diagnostic and therapeutic protocols, and to enhance understanding through a comprehensive literature review. Methods: A 60-year-old female presented with sleep-disordered complaints and was diagnosed with severe OSAS after polysomnography. At physical examination, a swelling of the right posterior oropharyngeal mucosa was noticed. Imaging confirmed the suspicion of a PPS tumor, and transcervical resection was planned. Case presentation was adherent to the CARE checklist. A comprehensive literature review was conducted using the most reliable scientific databases. Results: Surgery was uneventful, and the patient made a full recovery. The histopathology report was consistent with the diagnosis of pleomorphic adenoma. Postoperative outcomes showed marked improvement in polysomnographic parameters and symptom burden. Conclusions: Parapharyngeal space tumors are a rare, often overlooked cause of OSA. This case highlights the role of a personalized head and neck assessment in OSA patients, particularly in identifying structural causes and offering definitive surgical management when indicated. Full article
(This article belongs to the Section Personalized Therapy and Drug Delivery)
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16 pages, 1396 KiB  
Article
Diet Therapy and Probiotics to Improve Sleep Apnea Risk and Quality of Life in Older Adults (>60 Years) with Metabolic Syndrome: A Study from Romania
by Amina Venter, Amin-Florin El-kharoubi, Mousa El-kharoubi, Evelin Claudia Ghitea, Marc Cristian Ghitea, Timea Claudia Ghitea and Ciprian Florian Venter
Geriatrics 2025, 10(4), 100; https://doi.org/10.3390/geriatrics10040100 - 25 Jul 2025
Viewed by 241
Abstract
Background: Metabolic syndrome (MetS) and obstructive sleep apnea (OSA) are prevalent and interrelated conditions in older adults, both contributing to decreased quality of life and increased health risks. Nutritional interventions, including dietary changes and probiotic supplementation, may offer effective non-pharmacological strategies to address [...] Read more.
Background: Metabolic syndrome (MetS) and obstructive sleep apnea (OSA) are prevalent and interrelated conditions in older adults, both contributing to decreased quality of life and increased health risks. Nutritional interventions, including dietary changes and probiotic supplementation, may offer effective non-pharmacological strategies to address these conditions. This study aimed to evaluate the impact of diet therapy alone and in combination with probiotics on quality of life and sleep apnea risk in older adults (>60 years) with MetS. Methods: In this controlled interventional study, 192 older adults with metabolic syndrome were assigned to one of three groups: control, diet therapy alone, or diet therapy plus probiotic supplementation. Participants were evaluated at baseline and after the intervention period using the SF-36 quality of life questionnaire and an apnea risk screening tool. Clinical and metabolic parameters, including BMI, HOMA index, and visceral fat, were also assessed. Results: Significant improvements in SF-36 scores were observed in both intervention groups compared to the control group (p < 0.05) (mean difference = −5.31, p = 0.016), with the diet + probiotics group showing the greatest enhancement. Participants who reduced their apnea risk also reported higher post-intervention SF-36 scores. The intervention led to reductions in visceral fat, inflammatory markers (CRP), and insulin resistance (HOMA index), which were correlated with improved quality of life. Conclusions: Integrated nutritional strategies, especially the combination of diet and probiotics, significantly improve quality of life and reduce apnea risk in older adults with metabolic syndrome. These findings support the use of personalized, non-pharmacological interventions targeting both metabolic health and sleep-related outcomes in geriatric populations. Full article
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16 pages, 1446 KiB  
Systematic Review
Soft Palate and Pharyngeal Surgery for the Treatment of Snoring: A Systematic Review
by Giovanni Cammaroto, Giuseppe Caccamo, Tommaso Rodella, Diletta Angeletti, Francesca Boscolo Nata, Davide Topazio and Luca Cerritelli
J. Clin. Med. 2025, 14(14), 4964; https://doi.org/10.3390/jcm14144964 - 14 Jul 2025
Viewed by 568
Abstract
Background: Snoring is a common symptom within the spectrum of sleep-disordered breathing, often occurring independently or in association with obstructive sleep apnea syndrome (OSAS). Despite its prevalence, treatment strategies remain variable and lack standardization, particularly regarding surgical interventions. This review aims to [...] Read more.
Background: Snoring is a common symptom within the spectrum of sleep-disordered breathing, often occurring independently or in association with obstructive sleep apnea syndrome (OSAS). Despite its prevalence, treatment strategies remain variable and lack standardization, particularly regarding surgical interventions. This review aims to evaluate and summarize the outcomes of soft palate and pharyngeal surgeries for adult snoring based on recent literature. Methods: A systematic review was conducted using the PubMed database, identifying studies published between 2014 and 2024 that involved adult patients undergoing upper airway surgery for snoring. Inclusion criteria required pre- and postoperative snoring assessment using the Visual Analog Scale (VAS). Studies were categorized by surgical technique (anterior vs. lateral/circumferential), anesthesia type, presence of tonsillectomy, BMI, OSAS severity (based on AHI), and use of Drug-Induced Sleep Endoscopy (DISE). Descriptive analysis was performed on the changes in VAS scores. Results: A total of 43 studies involving 2713 patients were included, with 18 eligible for quantitative analysis (716 patients). Across all patients, mean VAS scores improved from 7.29 to 3.50 (ΔVAS 3.79). Both anterior and lateral/circumferential techniques yielded significant symptom reduction (ΔVAS 4.12 and 3.68, respectively). General anesthesia showed slightly better outcomes than local anesthesia. Notably, tonsillectomy was associated with greater symptom improvement (ΔVAS 5.17 vs. 4.49). Patients with lower BMI and milder OSAS showed higher baseline VAS but similar improvements. Limited objective measures and heterogeneity in surgical protocols were key limitations. Conclusions: Surgical interventions for snoring provide subjective symptom relief regardless of surgical approach or OSAS severity. Tonsillectomy may enhance outcomes. Future efforts should prioritize standardized, objective outcome measures and personalized treatment planning, potentially incorporating DISE and wearable acoustic technologies. Full article
(This article belongs to the Section Otolaryngology)
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21 pages, 1759 KiB  
Review
Three Decades of Managing Pediatric Obstructive Sleep Apnea Syndrome: What’s Old, What’s New
by Beatrice Panetti, Claudia Federico, Giuseppe Francesco Sferrazza Papa, Paola Di Filippo, Armando Di Ludovico, Sabrina Di Pillo, Francesco Chiarelli, Alessandra Scaparrotta and Marina Attanasi
Children 2025, 12(7), 919; https://doi.org/10.3390/children12070919 - 11 Jul 2025
Viewed by 631
Abstract
Obstructive sleep apnea syndrome (OSAS) in children and adolescents is a prevalent and multifactorial disorder associated with significant short- and long-term health consequences. While adenotonsillectomy (AT) remains the first-line treatment, a substantial proportion of patients—especially those with obesity, craniofacial anomalies, or comorbid conditions—exhibit [...] Read more.
Obstructive sleep apnea syndrome (OSAS) in children and adolescents is a prevalent and multifactorial disorder associated with significant short- and long-term health consequences. While adenotonsillectomy (AT) remains the first-line treatment, a substantial proportion of patients—especially those with obesity, craniofacial anomalies, or comorbid conditions—exhibit persistent or recurrent symptoms, underscoring the need for individualized and multimodal approaches. This review provides an updated and comprehensive overview of current and emerging treatments for pediatric OSAS, with a focus on both surgical and non-surgical options, including pharmacological, orthodontic, and myofunctional therapies. A narrative synthesis of recent literature was conducted, including systematic reviews, randomized controlled trials, and large cohort studies published in the last 10 years. The review emphasizes evidence-based indications, mechanisms of action, efficacy outcomes, safety profiles, and limitations of each therapeutic modality. Adjunctive and alternative treatments such as rapid maxillary expansion, mandibular advancement devices, myofunctional therapy, intranasal corticosteroids, leukotriene receptor antagonists, and hypoglossal nerve stimulation show promising results in selected patient populations. Personalized treatment plans based on anatomical, functional, and developmental characteristics are essential to optimize outcomes. Combination therapies appear particularly effective in children with residual disease after AT or with specific phenotypes such as Down syndrome or maxillary constriction. Pediatric OSAS requires a tailored, multidisciplinary approach that evolves with the child’s growth and clinical profile. Understanding the full spectrum of available therapies allows clinicians to move beyond a one-size-fits-all model, offering more precise and durable treatment pathways. Emerging strategies may further redefine the therapeutic landscape in the coming years. Full article
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21 pages, 1384 KiB  
Article
Deep Proteomics Analysis Unravels the Molecular Signatures of Tonsillar B Cells in PFAPA and OSAS in the Pediatric Population
by Feras Kharrat, Nour Balasan, Blendi Ura, Valentina Golino, Pietro Campiglia, Giulia Peri, Erica Valencic, Mohammed Qaisiya, Ronald de Moura, Mariateresa Di Stazio, Barbara Bortot, Alberto Tommasini, Adamo Pio d’Adamo, Egidio Barbi and Domenico Leonardo Grasso
Int. J. Mol. Sci. 2025, 26(14), 6621; https://doi.org/10.3390/ijms26146621 - 10 Jul 2025
Viewed by 363
Abstract
Tonsils are secondary lymphoid organs that play a crucial role in the immunological response, with B cells being a major component involved in both innate and adaptive immunity. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and obstructive sleep apnea syndrome (OSAS) [...] Read more.
Tonsils are secondary lymphoid organs that play a crucial role in the immunological response, with B cells being a major component involved in both innate and adaptive immunity. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and obstructive sleep apnea syndrome (OSAS) are both common pediatric conditions involving tonsillar pathology. In both syndromes, the molecular pathways dysregulated in tonsillar B cells are still to be understood. The study aimed to unravel and compare the proteomic profiles of tonsillar CD19+ B cells isolated from pediatric patients with PFAPA (n = 6) and OSAS (n = 6) to identify disease-specific molecular signatures. B cells were isolated from the tonsillar tissue using magnetic microbeads (with a purity of 93.50%). Proteomic analysis was performed by nanoLC-MS/MS with both data-dependent (DDA) and data-independent acquisition (DIA) methods, followed by comprehensive bioinformatic analysis. By merging DDA and DIA datasets, a total of 18.078 unique proteins were identified. Differential expression analysis revealed 83 proteins increased and 49 proteins decreased in OSAS B cells compared to PFAPA B cells (fold change ≥ 1.5 or ≤0.6, p < 0.05). Distinct pathway enrichments were highlighted, including alterations in the regulation of PTEN gene transcription, circadian gene expression, inflammasome pathways (IPAF and AIM2), and the metabolism of angiotensinogen to angiotensin. Specific proteins such as p53, Hdac3, RPTOR, MED1, Caspase-1, Cathepsin D, Chymase, and TLR2 (validated by WB) were shown to be differentially expressed. These findings reveal distinct proteomic signatures in tonsillar B cells from patients with PFAPA and OSAS, offering novel insights into the pathophysiology and potential avenues for biomarker discovery. Full article
(This article belongs to the Special Issue Role of Proteomics in Human Diseases and Infections)
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36 pages, 848 KiB  
Review
Oxidative Stress and Inflammation in Hypoxemic Respiratory Diseases and Their Comorbidities: Molecular Insights and Diagnostic Advances in Chronic Obstructive Pulmonary Disease and Sleep Apnea
by Jorge Rodríguez-Pérez, Rosa Andreu-Martínez, Roberto Daza, Lucía Fernández-Arroyo, Ana Hernández-García, Elena Díaz-García, Carolina Cubillos-Zapata, Alicia Lozano-Diez, Aythami Morales, Daniel Ramos, Julián Aragonés, Ángel Cogolludo, Luis del Peso, Francisco García-Río and María J. Calzada
Antioxidants 2025, 14(7), 839; https://doi.org/10.3390/antiox14070839 - 8 Jul 2025
Viewed by 781
Abstract
In chronic respiratory diseases (CRDs), oxidative stress and inflammation are closely linked, driving disease onset, progression, and comorbidities. Oxidative stress activates inflammatory pathways, while chronic inflammation promotes further reactive oxygen species (ROS) production, creating a vicious cycle leading to airway remodeling, reduced lung [...] Read more.
In chronic respiratory diseases (CRDs), oxidative stress and inflammation are closely linked, driving disease onset, progression, and comorbidities. Oxidative stress activates inflammatory pathways, while chronic inflammation promotes further reactive oxygen species (ROS) production, creating a vicious cycle leading to airway remodeling, reduced lung function, and exacerbations. This review highlights the central roles of inflammation and oxidative stress in chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA). In COPD, chronic hypoxemia associates with emphysema, appearing with disease progression. In OSA, beyond systemic consequences, pulmonary inflammation and oxidative stress contribute to lung injury as well. Although COPD and OSA are distinct conditions, some patients present with “overlap syndrome”, a term used in this review to describe the coexistence of both. This combination poses unique diagnostic and therapeutic challenges. We also examine the role of hypoxia and its transcriptional effects via hypoxia-inducible factors (HIFs) in promoting oxidative stress and inflammation. Finally, we explore how artificial intelligence (AI) offers promising tools to improve diagnosis, monitoring, and management of CRDs and may help elucidate mechanistic links between hypoxia, inflammation, and oxidative stress, contributing to more personalized therapeutic strategies. Full article
(This article belongs to the Special Issue Oxidative Stress and Immune Regulation in Respiratory Diseases)
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11 pages, 1292 KiB  
Article
Muscle and Fat Composition in OSA: A CT-Based Study
by Hatice Beyazal Polat, Songül Özyurt, Mustafa Taştan, Fatma Beyazal Çeliker, Mehmet Beyazal, Ünal Şahin, Abdülkadir Özgür, Metin Çeliker and Kamil Konur
J. Clin. Med. 2025, 14(13), 4647; https://doi.org/10.3390/jcm14134647 - 1 Jul 2025
Viewed by 359
Abstract
Background: Obstructive sleep apnea syndrome (OSAS) is associated with altered body composition, including increased fat accumulation and potential reductions in muscle quality. Sarcopenic obesity—a condition marked by simultaneous muscle degradation and adiposity—is of growing concern in OSAS populations. Methods: We conducted a retrospective [...] Read more.
Background: Obstructive sleep apnea syndrome (OSAS) is associated with altered body composition, including increased fat accumulation and potential reductions in muscle quality. Sarcopenic obesity—a condition marked by simultaneous muscle degradation and adiposity—is of growing concern in OSAS populations. Methods: We conducted a retrospective study evaluating thoracoabdominal CT scans of 71 OSAS patients and 34 age- and sex-matched controls. Erector spinae muscle thickness and subcutaneous fat were measured at the L1 vertebral level. Associations with clinical markers such as BMI, CRP, and oxygen saturation were examined. Results: OSAS patients had significantly greater muscle thickness and subcutaneous fat compared to controls (p < 0.01). Muscle thickness was positively correlated with BMI and waist circumference but inversely associated with CRP and oxygen saturation. Despite structural hypertrophy, these findings suggest impaired muscle quality and support the presence of sarcopenic obesity in OSAS. Conclusions: CT-based imaging provides valuable structural insights but may overestimate muscle function, particularly in obese OSAS patients. These results highlight the need to integrate imaging with functional assessments to accurately diagnose sarcopenia and guide individualized management strategies. Full article
(This article belongs to the Section Otolaryngology)
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16 pages, 264 KiB  
Review
Heart Rate Variability (HRV) in Patients with Sleep Apnea and COPD: A Comprehensive Analysis
by Andreea Zabara-Antal, Radu Crisan-Dabija, Raluca-Ioana Arcana, Oana Elena Melinte, Adriana-Loredana Pintilie, Ionela Alina Grosu-Creanga, Mihai Lucian Zabara and Antigona Trofor
J. Clin. Med. 2025, 14(13), 4630; https://doi.org/10.3390/jcm14134630 - 30 Jun 2025
Viewed by 855
Abstract
Background: Obstructive sleep apnea (OSA) and chronic obstructive pulmonary disease (COPD) are prevalent conditions with overlapping clinical features and shared consequences on autonomic function. Heart rate variability (HRV), a non-invasive biomarker of autonomic nervous system activity, may offer diagnostic, prognostic, and therapeutic insights [...] Read more.
Background: Obstructive sleep apnea (OSA) and chronic obstructive pulmonary disease (COPD) are prevalent conditions with overlapping clinical features and shared consequences on autonomic function. Heart rate variability (HRV), a non-invasive biomarker of autonomic nervous system activity, may offer diagnostic, prognostic, and therapeutic insights in this patient population. Methods: A comprehensive literature review was conducted using PubMed, Google Scholar, and MEDLINE to identify peer-reviewed English-language studies published between January 2015 and December 2024. Studies were included if they evaluated HRV parameters in individuals with OSA, COPD, or overlap syndrome, explored HRV as a marker of disease severity or progression. A total of 239 studies were identified; after screening, 41 met the inclusion criteria. Results: The analysis revealed consistent evidence linking reduced HRV with both OSA and COPD severity. HRV alterations were more pronounced in overlap syndrome, reflecting synergistic autonomic dysfunction. HRV showed potential in differentiating disease stages, predicting cardiovascular risk, and evaluating treatment efficacy, particularly for CPAP therapy in OSA. Short-term HRV was particularly sensitive to autonomic changes, while long-term recordings helped track disease progression. Emerging evidence supports the use of HRV derived from wearable technologies as a viable screening tool for health and wellness. Conclusion: HRV is a valuable, non-invasive tool for assessing autonomic dysfunction in OSA, COPD, and their overlap. It offers significant potential for early diagnosis, disease monitoring, and treatment evaluation. Integrating HRV into clinical practice, could enhance diagnostic efficiency, reduce healthcare burden, and improve outcomes in high-risk respiratory populations. Furthermore, longitudinal studies are warranted to standardise HRV thresholds and validate their use in routine screening protocols. Full article
(This article belongs to the Special Issue Clinical Highlights in Chronic Obstructive Pulmonary Disease (COPD))
14 pages, 2086 KiB  
Protocol
Orofacial Myofunctional Therapy: Investigating a Novel Therapeutic Approach for Pediatric Obstructive Sleep Apnea in Children with and Without Down Syndrome—A Study Protocol
by Jolien Verbeke, Iris Meerschman, Karlien Dhondt, Els De Leenheer, Julie Willekens, Kristiane Van Lierde and Sofie Claeys
Children 2025, 12(6), 737; https://doi.org/10.3390/children12060737 - 6 Jun 2025
Viewed by 1780
Abstract
Background/Objectives: Pediatric obstructive sleep apnea (OSA) is a prevalent medical condition, affecting 1–5% of non-syndromic children and 30–90% of children with Down syndrome. Given the severity of the condition and the associated health risks, early and effective treatment is crucial. However, current treatment [...] Read more.
Background/Objectives: Pediatric obstructive sleep apnea (OSA) is a prevalent medical condition, affecting 1–5% of non-syndromic children and 30–90% of children with Down syndrome. Given the severity of the condition and the associated health risks, early and effective treatment is crucial. However, current treatment modalities are often invasive or suffer from poor patient adherence. Additionally, adenotonsillectomy, the first-line treatment in pediatric OSA, seems not to be effective in every child, leaving children with residual OSA postoperatively. These challenges are particularly pronounced in high-risk populations, such as children with Down syndrome, highlighting the need for alternative therapeutic strategies. Therefore, a protocol is presented to evaluate the effectiveness of orofacial myofunctional therapy (OMT) as a treatment for OSA in two pediatric populations: (1) Non-syndromic children aged 4–18 years: 10 weeks of OMT. (2) Children with Down syndrome aged 4–18 years: 20 weeks of OMT. Effects of the OMT program will be evaluated on: sleep parameters (e.g., obstructive Apnea–Hyponea Index (oAHI), snoring frequency); orofacial functions (e.g., breathing pattern, tongue position at rest); quality of life outcomes. Methods: A pretest–posttest design will be used to evaluate the effectiveness of OMT in both children with and without Down syndrome and OSA. Both objective measures and patient-reported outcomes are being collected. Results: OMT is expected to improve orofacial functions, reduce OSA severity and symptoms, and enhance quality of life in both non-syndromic and syndromic children. Conclusions: This multidisciplinary research protocol, involving collaboration between ENT specialists and speech-language pathologists, aims to provide a comprehensive understanding of the potential benefits of OMT in treating OSA. Full article
(This article belongs to the Special Issue Current Advances in Paediatric Sleep Medicine)
12 pages, 357 KiB  
Review
Rethinking Otorhinolaryngologic Care Pathways in Children with Down Syndrome: A Multidisciplinary Framework for Early Diagnosis and Management
by Francesco Fabrizio Comisi, Elena Esposito and Salvatore Savasta
J. Clin. Med. 2025, 14(11), 3889; https://doi.org/10.3390/jcm14113889 - 1 Jun 2025
Viewed by 653
Abstract
Background: Children with Down syndrome (DS) are at high risk for a broad spectrum of otorhinolaryngologic (ENT) disorders, including hearing impairment, obstructive sleep apnea (OSA), dysphagia, and language delay. These conditions often coexist and interact with the neurodevelopmental and anatomical features of DS, [...] Read more.
Background: Children with Down syndrome (DS) are at high risk for a broad spectrum of otorhinolaryngologic (ENT) disorders, including hearing impairment, obstructive sleep apnea (OSA), dysphagia, and language delay. These conditions often coexist and interact with the neurodevelopmental and anatomical features of DS, requiring early identification and coordinated management. Despite the clinical burden, ENT involvement in DS remains under-characterized and inconsistently addressed in care pathways. Methods: A narrative review was conducted to provide an integrative overview of ENT manifestations in pediatric patients with DS. A literature search was performed in PubMed, Scopus, and Web of Science, covering studies published between 1979 and 2025. Articles were included if they addressed ENT disorders in children with DS and met clinical relevance criteria. A total of 45 studies were selected and analysed by study design, focus, and contribution to diagnostic or therapeutic frameworks. Results: The majority of included studies were observational in nature, covering key domains such as conductive hearing loss, chronic otitis media with effusion, sleep-disordered breathing, and feeding/swallowing dysfunction. Several articles emphasized the importance of early audiologic and polysomnographic screening. Gaps in standardization and accessibility of multidisciplinary ENT care were consistently reported. A proposed framework for integrated evaluation is discussed. Conclusions: ENT manifestations in pediatric DS are frequent, multifactorial, and clinically impactful. A multidisciplinary, anticipatory model of care is essential for timely diagnosis and targeted intervention. This review highlights the need to formalize ENT pathways within comprehensive care protocols for children with DS. Full article
(This article belongs to the Section Otolaryngology)
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11 pages, 466 KiB  
Article
Gender Differences in Obstructive Sleep Apnea: A Preliminary Clinical and Polysomnographic Investigation
by Alessandra Castelnuovo, Sara Marelli, Salvatore Mazzeo, Francesca Casoni, Paola Proserpio, Alessandro Oldani, Alessandro Bombaci, Elisa Bortolin, Giulia Bruschi, Federica Agosta, Massimo Filippi, Luigi Ferini-Strambi and Maria Salsone
Neurol. Int. 2025, 17(6), 85; https://doi.org/10.3390/neurolint17060085 - 29 May 2025
Viewed by 1198
Abstract
Background/Objectives: Gender differences influence the clinical manifestations, progression, and treatment response in obstructive sleep apnea (OSA) syndrome, suggesting the existence of distinct gender-related phenotypes potentially driven by anatomical, physiological, and hormonal factors. However, the impact of gender on OSA-related cognitive profiles remains unknown. [...] Read more.
Background/Objectives: Gender differences influence the clinical manifestations, progression, and treatment response in obstructive sleep apnea (OSA) syndrome, suggesting the existence of distinct gender-related phenotypes potentially driven by anatomical, physiological, and hormonal factors. However, the impact of gender on OSA-related cognitive profiles remains unknown. This study aimed to investigate the neuropsychological and polysomnographic (PSG) differences between OSA females and males in order to detect the impact of gender on clinical manifestation and PSG features. Methods: Data were collected from 28 OSA patients (14 females and 14 males matched for age, education, and disease severity). All patients performed a complete neuropsychological evaluation, Epworth sleepiness scale, and whole-night PSG. To evaluate the relationship between specific sleep profiles and cognitive performance, PSG parameters were correlated to scores obtained on neuropsychological tests. Results: Both male and female groups performed within the normal range across all administered neuropsychological tests, according to Italian normative values. Compared with OSA males, female patients showed significantly lower values on the Rey–Osterrieth Complex Figure (ROCF) Recall Test. By contrast, no significant statistical clinical difference emerged between the two OSA groups in terms of clinical manifestation and sleep parameters. Conclusions: This study improves the knowledge on gender-related cognitive impairment in OSA patients. Our preliminary findings demonstrate that the ROCF Recall Test may be altered in OSA females, but not in males. Further longitudinal studies are needed to investigate whether OSA female patients will develop a frank dementia over time. Full article
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Article
Pulmonary Function and Nocturnal Hypoxemia Patterns in Patients with Obstructive Sleep Apnea
by Claudia Lucia Toma, Filip Radu, Dragos-Cosmin Zaharia, Ionela Belaconi and Stefan Dumitrache-Rujinski
J. Clin. Med. 2025, 14(10), 3589; https://doi.org/10.3390/jcm14103589 - 21 May 2025
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Abstract
Background/Objective: Obesity is a documented risk factor for impaired pulmonary function and abnormal oxyhaemoglobin levels during sleep. This functional impairment becomes more significant when there are additional respiratory pathologies, such as obstructive sleep apnea (OSA) and/or chronic obstructive pulmonary disease (COPD). Overnight pulse [...] Read more.
Background/Objective: Obesity is a documented risk factor for impaired pulmonary function and abnormal oxyhaemoglobin levels during sleep. This functional impairment becomes more significant when there are additional respiratory pathologies, such as obstructive sleep apnea (OSA) and/or chronic obstructive pulmonary disease (COPD). Overnight pulse oximetry may offer an effective evaluation of nocturnal oxyhaemoglobin levels/waveform patterns. We evaluated the correlation between obesity, overnight pulse oximetry (parameters, waveform patterns) and pulmonary function in patients diagnosed with moderate–severe OSA and normal oxyhaemoglobin saturation levels during waking hours. We also compared the overnight oxyhaemoglobin saturation levels between patients with OSA alone and those with associated COPD. Methods: This was a retrospective, transversal, non-interventional study on consecutive patients with moderate–severe OSA diagnosed using overnight cardiorespiratory polygraphy over a period of 18 months. After analyzing the study population’s characteristics, the patients were divided into two subgroups: one consisting of patients with OSA alone (Group A), and the second with coexisting OSA and COPD (Group B). Results: Seventy-six patients were included in the study, and 18% were diagnosed with COPD. A higher body mass index (BMI) correlated with a higher number of ≥3% SpO2 drops/h (ODI3) and percentage of time with oxyhaemoglobin saturation < 90% (t90) and a lower average nocturnal oxyhaemoglobin saturation (avgSpO2). ODI3 correlated negatively with avgSpO2 and positively with t90. After eliminating BMI as a confounding factor, lower values of forced expiratory volume in the first second (FEV1) were associated with lower avgSpO2 and higher t90. FEV1 did not corelate with ODI3. After dividing the study population into the two subgroups, patients from Group B had a tendency towards lower average nocturnal SpO2 levels compared to Group A. Conclusions: Different phenotypes/patterns of nocturnal hypoxemia can be identified using quantitative and qualitative analyses of overnight pulse oximetry: repetitive, consecutive obstructive respiratory events with a characteristic intermittent (saw-tooth) hypoxemia pattern and alveolar hypoventilation, resulting in a continuous (plateau) hypoxemia pattern. According to our findings, nocturnal hypoxemia is more important at lower FEV1 values (correlating with lower avgSpO2/higher t90, but not with ODI3). The presence of a continuous hypoxemia pattern in patients with OSA may suggest that pulmonary function tests should be performed in order to differentiate patients with alveolar hypoventilation secondary to obesity (restrictive syndrome) from those with associated COPD (obstructive syndrome). This can have an impact on the management of the case and the therapeutic approach (positive pressure therapy with/without supplemental oxygen). Full article
(This article belongs to the Section Respiratory Medicine)
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