Search Results (221)

Pediatric obstructive sleep-disordered breathing encompasses a wide spectrum of diagnostic clusters, including primary snoring, upper airway resistance syndrome, mild, moderate, and severe obstructive sleep apnea, and obstructive hypoventilation. Even within these classifications, the symptomatic presentation involves a large array of variations, reflecting a wide phenotypic spectrum. Here, we aim to summarize current diagnostic criteria and explore the spectrum of disease, particularly highlighting the phenotypic variation and its potential relevance to therapeutic decisions and overall outcomes. It has become apparent that polysomnographic (PSG) indices do not correlate well with associated morbidities, even though one-night in-lab PSGs are considered the diagnostic gold standard. Novel approaches, including exploration of plasma and urine biomarkers and data-mining the physiological information embedded within the PSG, may enable the extraction of phenotypic information that can then be interpreted in conjunction with clinical data, including history, physical examination findings, risk factors, and associated disease morbidity, so that an individualized treatment plan can be optimally delineated. Full article

Background/Objectives: Sleep-disordered breathing (SDB), including obstructive sleep apnea, is common in children and is associated with mouth breathing, snoring, and neurobehavioral disturbances. In pediatric orthodontic patients, oral habits and craniofacial imbalances may contribute to airway dysfunction, making orthodontic evaluation a potential setting for early identification of SDB. This study aimed to estimate the prevalence of SDB and to evaluate its associations with parent-reported behavioral symptom profiles in a cohort of pediatric orthodontic patients. Methods: A multicenter cross-sectional study was conducted in 186 children aged 7–13 years attending orthodontic clinics in Oradea and Târgu Mureș, Romania. Parents completed a structured questionnaire on oral habits, the 22-item Pediatric Sleep Questionnaire (PSQ), with SDB defined as 8 or more positive responses, and a parent-reported behavioral screening form assessing ADHD symptom subtypes, oppositional-defiant disorder (ODD), conduct disorder, and anxiety/depression. These behavioral outcomes were based on screening measures and were not intended as clinical psychiatric diagnoses. Associations were analyzed using chi-square or Fisher’s exact tests, and multivariable logistic regression analyses were performed adjusting for age, sex, and weight status. Results: Mouth breathing was reported in 61.8% of participants, snoring in 26.9%, and SDB in 13.4%. Positive screens for ADHD-inattentive (p < 0.001), ADHD-hyperactive/impulsive (p < 0.001), ADHD-combined (p < 0.001), ODD (p < 0.001), and anxiety/depression (p < 0.001) were significantly more frequent among children with SDB. In multivariable analysis, SDB remained independently associated with ADHD-combined subtype (OR = 6.22), ADHD-hyperactive/impulsive symptoms (OR = 5.84), oppositional-defiant disorder (OR = 4.91), and anxiety/depression (OR = 4.38). Conclusions: SDB was identified in a meaningful proportion of pediatric orthodontic patients and was significantly associated with multiple screening-defined behavioral symptom domains. These findings support consideration of brief airway- and sleep-oriented screening during orthodontic assessment, particularly in school-aged children presenting with mouth breathing, snoring, or behavioral concerns. Given the cross-sectional and questionnaire-based design, the findings should be interpreted as associative and warrant confirmation in prospective studies using objective sleep measures. Full article

Background and Objectives: Pregnancy causes various physiological and hormonal changes that disrupt sleep architecture and modify respiratory patterns, increasing the risk of sleep-related breathing disorders (SBDs) such as obstructive sleep apnea (OSA) and potentially exacerbating pre-existing conditions. These disorders have been linked to adverse maternal and fetal outcomes. However, current screening tools remain inadequate, and data, including from Portugal, remain limited. This study aimed to assess the prevalence of SBD symptoms suggestive of sleep-disordered breathing during pregnancy, characterize the population, and explore associations with demographic and anthropometric parameters. Materials and Methods: A prospective observational study was conducted from July to December 2024 at Hospital da Luz Lisboa, involving pregnant women ≥ 18 years attending routine consultations. Participants completed a structured questionnaire that assessed demographic and anthropometric data, comorbidities, ten SBD symptoms, and the Epworth Sleepiness Scale (ESS). Results: The cohort included 289 participants, with a mean age of 34.4 years and pre-pregnancy body mass index (BMI) of 23.6 kg/m². On average, women reported 3.1 SBD symptoms, with fatigue (65.4%), memory/concentration impairment (52.2%), and non-restorative sleep (50.5%) being the most common. Excessive daytime sleepiness (ESS >10) was present in 22.8% of the population. Snoring was significantly associated with older age and higher BMI (p = 0.0009 and p < 0.0001, respectively). Both the number of symptoms and ESS scores tended to increase with gestational age, particularly in the third trimester. Women with diabetes had higher odds of reporting snoring, nocturnal dyspnea, and witnessed apneas, with odds ratios of 4.65, 8.77, and 11.38, respectively. Conclusions: SBD symptoms and daytime sleepiness are highly prevalent in pregnancy and typically increase with advancing gestation. These findings emphasize the need for improved clinical strategies to enable early identification and management of SBD in pregnant women, thereby reducing maternal-fetal complications. Full article

Background: Surgical palatal techniques are established alternatives to continuous positive airway pressure (CPAP) in selective patients with obstructive sleep apnea (OSA) with retropalatal airway collapse. Anterior palatoplasty (AP) stiffens and advances the soft palate, whereas radiofrequency-assisted uvulopalatoplasty (RF-UPP) uses thermal ablation to reduce palatal tissue. This study aimed to compare the 6-month efficacy and morbidity of AP vs. RF-UPP in treating mild-to-moderate OSA. Materials and Methods: We conducted a single-center retrospective cohort study (March 2023–March 2025) of 86 adults (mean age ~42 years; 69.8% male) with mild-moderate OSA (apnea–hypopnea index [AHI] 5–30) due to palatal obstruction; 43 patients underwent AP and 43 patients underwent RF-UPP. Polysomnographic AHI, Epworth sleepiness scale (ESS), snoring severity (0–10 visual analog scale, VAS) and sleep-related quality of life (functional outcomes of sleep questionnaire, FOSQ) were analyzed at baseline and 6 months postoperatively. Postoperative pain (0–10 VAS), recovery time, and bleeding events were also assessed. Results: Baseline characteristics were similar between groups (AHI ~22 vs. 21 events/h; ESS ~11 vs. 10; snoring VAS ~8.4 vs. 8.2 in AP vs. RF-UPP, all p > 0.1). At 6 months, the AP group achieved a greater mean AHI reduction than the RF-UPP group (−13.5 ± 7.5 vs. −8.0 ± 7.2, p < 0.001), with post-treatment AHI averaging 8.5 ± 6.0 vs. 13.2 ± 6.5 events/h (AP vs. RF-UPP). AP yielded a higher surgical success rate (34/43 (79.1%) vs. 23/43 (53.5%), p = 0.012), meeting the criteria of ≥50% AHI reduction to <15; p = 0.01. Subjective outcomes improved in both groups, but AP showed greater mean reductions in ESS (−5.5 vs. −3.1 points, p = 0.001) and snoring VAS (−5.7 vs. −3.1, p = 0.002). The improvements in ESS, snoring VAS, and FOSQ scores were observed in both groups, with significantly greater gains after AP. Postoperative pain and time to resumption of normal diet were higher in the AP group. No major complications occurred in either group. Conclusions: Anterior palatoplasty demonstrated superior efficacy to RF-UPP in mild-moderate OSA at the expense of increased postoperative pain and a longer recovery period. AP may offer a greater therapeutic benefit in appropriately selected patients with palatal obstruction. Full article

Background: Obstructive sleep apnoea (OSA) is a highly prevalent yet underdiagnosed disorder in patients with cardiovascular disease. Growing evidence suggests a pathophysiological link between OSA and coronary artery disease (CAD); however, the relationship between OSA severity and anatomical complexity of coronary lesions remains incompletely understood. Aim: The aim of this study is to assess the prevalence of OSA in patients undergoing coronary angiography and to evaluate the association between sleep-disordered breathing parameters and the severity of CAD expressed by the SYNTAX score. Methods: This prospective study enrolled 103 consecutive patients referred for invasive coronary angiography. All participants underwent overnight type III cardiorespiratory polygraphy. OSA severity was classified according to the Apnea–Hypopnea Index (AHI). The anatomical complexity of CAD was assessed using the SYNTAX score. Linear regression analyses were performed to determine associations between polysomnographic parameters and SYNTAX score. Results: Significant CAD was diagnosed in 74.8% of patients. OSA was highly prevalent, with severe OSA observed in 36.4% of patients with significant CAD compared to 3.8% in those without significant stenoses (p = 0.003). Patients with significant CAD had higher AHI (18.8 vs. 13.5 events/h; p = 0.003), higher oxygen desaturation index (ODI) (19.3 vs. 12.9 events/h; p = 0.003), and greater mean oxygen desaturation (4.1% vs. 3.8%; p = 0.008). In multivariable regression analysis, AHI (B = 0.329; 95% CI [0.083, 0.576]; p = 0.009) and nicotinism (B = 8.693; 95% CI [2.573, 14.814]; p = 0.006) independently predicted higher SYNTAX scores. Interestingly, each 1% increase in snoring percentage was associated with a 0.203-point reduction in SYNTAX score (95% CI [−0.339, −0.068]; p = 0.004). Conclusions: OSA is highly prevalent in patients undergoing coronary angiography and is independently associated with greater anatomical complexity of CAD. Sleep-disordered breathing, particularly AHI and nocturnal hypoxemia, may represent important non-traditional risk markers of advanced coronary atherosclerosis. Systematic screening for OSA should be considered in patients with suspected or confirmed CAD. Full article

Background/Objectives: Patients with poor sleep are at high risk of developing type II diabetes mellitus (T2DM). Since T2DM is linked to increased risk of obstructive sleep apnea (OSA), and Metformin is commonly used to treat T2DM, we examined how Metformin affects sleep stages in patients with concurrent T2DM and OSA-related symptoms of snoring and fatigue. Patients with T2DM on Metformin progressively develop increased insulin resistance associated with sleep disturbances and poor glycemic control. We therefore explored sleep pattern changes in patients with OSA symptoms and T2DM on Metformin, with a special focus on whether Metformin affects sleep architecture. Methods: Polysomnogram (PSG) data from patients with T2DM on Metformin was evaluated along with data on age, body-mass index (BMI), and biological sex. Data analysis included mean ± standard deviation, t-test with p < 0.05 taken as significant, and linear regression. Results: Patients with a BMI of less than 30 (non-obese) and taking Metformin exhibited a significantly shorter rapid eye movement sleep stage (REM) duration than patients on alternative therapies (p = 0.036). No such difference in REM was found for patients with a BMI of 30 or greater (obese) taking Metformin. While there was also no significant difference in slow-wave sleep stage (N3) duration with Metformin use, linear regression identified a moderate negative correlation between N3 and age in patients taking non-Metformin therapies (R² = 0.4555). No significant correlations between sleep stage duration and patient sex, smoking status, or BMI greater than 30 were identified. Conclusions: Overall, patients with OSA and T2DM on Metformin had lower mean quantities of N3, and REM sleep compared to those not on Metformin. Non-obese patients with T2DM and OSA being treated with Metformin were observed to have less REM sleep, regardless of sex or smoking history. N3 and REM sleep are needed for the timely secretion of growth hormone and memory consolidation. Since Metformin is correlated with differences in N3 and REM sleep, it may contribute to the development of insulin resistance. Future studies are needed to explore potential causes for this relationship and how it may affect the treatment of T2DM. Full article

Background: Chronic rhinosinusitis (CRS) and obstructive sleep apnea (OSA) frequently coexist, sharing inflammatory and anatomical pathways consistent with the “United Airway”. This review examines the synergistic dysfunction linking these conditions. Methods: We conducted a narrative review synthesizing literature on the epidemiology, pathophysiology—including cytokine cascades and microbiome dysbiosis—and therapeutic outcomes of surgical and medical interventions for comorbid CRS and OSA. Results: Large-scale datasets confirm CRS as an independent risk factor for OSA. Pathophysiologically, the disorders are linked by mechanical obstruction, systemic cytokine spillover (IL-6, TNF-a), and nasopharyngeal microbiome dysbiosis (e.g., S. aureus biofilms). Therapeutically, Endoscopic Sinus Surgery (ESS) significantly improves subjective sleep quality (SNOT-22) and reduces CPAP pressure requirements, although it yields only trivial reductions in the Apnea-Hypopnea Index (AHI). Biologics like Dupilumab demonstrate rapid efficacy in improving sleep domains for CRS with nasal polyps. Conclusions: CRS and OSA are inextricably linked via mechanical and inflammatory mechanisms. A holistic “United Airway” management approach—optimizing nasal patency to facilitate CPAP adherence and reduce systemic inflammatory burden—is critical for improving patient outcomes. Full article

Background/Objectives: Obstructive sleep apnea (OSA) is a prevalent disorder in adults, characterized by recurrent upper airway obstruction during sleep, resulting in intermittent hypoxia, sympathetic activation, and sleep fragmentation. It is linked to significant cardiovascular, metabolic, neurocognitive, and psychosocial morbidity. There is increasing evidence that continuous positive airway pressure (CPAP) adherence remains suboptimal in many patients, and in those patients, surgery is often indicated. Methods: This protocol report presents an updated and protocol-driven surgical approach grounded in clinical evidence and experience, highlighting the role of drug-induced sleep endoscopy (DISE) and personalized multi-level interventions for adult patients with OSA. The integration of anatomical phenotyping and DISE-directed planning enables precise surgical targeting. The protocol emphasizes patient selection, individualized treatment based on obstruction patterns, and perioperative optimization. This surgical algorithm improves the success rates and long-term outcomes in patients who are intolerant of CPAP therapy. Results: A DISE-guided and multi-level surgical approach includes uvulopalatoplasty, septoplasty, tongue base reduction, palatoplasty, and maxillomandibular advancement (MMA). Preoperative assessments include BMI and the STOP-BANG and Epworth Sleepiness scales, while postoperative care emphasizes follow-up polysomnography and adjunctive therapies only when necessary. Regional experiences in Saudi Arabia and Canada underscore the importance of standardized evidence-based surgical care. Conclusions: The purpose of this article is to establish a clear protocol for managing patients diagnosed with OSA, drawing on a review of the existing literature and the insights of experienced surgeons in the field of sleep apnea, and to update current protocols with modern evidence. Full article

Background/Objectives: Obstructive sleep apnea (OSA) syndrome is characterized by recurrent upper airway obstruction during sleep and is closely associated with systemic inflammation and cardiometabolic risk. α-Klotho and fibroblast growth factor-23 (FGF-23) are emerging biomarkers with potential roles in vascular homeostasis, inflammation, and metabolic regulation. However, their relevance in OSA remains insufficiently elucidated. The aim of this study was to evaluate serum α-Klotho and FGF-23 levels in patients with OSA and to investigate their associations with disease severity. This represents a novel approach that may provide new insights into the pathophysiological mechanisms linking OSA with cardiometabolic risk. Methods: A total of 133 participants were included in this study and categorized into three groups according to apnea–hypopnea index: 1—simple snoring (n = 44); 2—non-severe OSA (n = 44); and 3—severe OSA (n = 45). Comparisons between two groups were performed using Student’s t-test for normally distributed variables. Comparisons among three or more groups were conducted using one-way ANOVA and the Kruskal–Wallis test. ANCOVA was applied to compare α-Klotho and FGF-23 levels between groups after adjustment for age, BMI, diabetes, hypertension, asthma, COPD, and thyroid disease. The predictive performance of α-Klotho and FGF-23 for severe obstructive sleep apnea was evaluated using ROC curve analysis. Results: Serum α-Klotho levels decreased significantly with increasing OSA severity (p = 0.001). Serum FGF-23 levels increased significantly across AHI groups (p = 0.001). After adjustment for age, BMI, diabetes, hypertension, asthma, thyroid disease, COPD and vitamin D levels, α-Klotho levels were lower in the severe and non-severe OSA group (p = 0.001, both) compared to the simple snoring group, whereas FGF-23 levels were higher in the severe and non-severe OSA group (p = 0.001; both) compared to the simple snoring group. In predicting the risk of severe OSA compared with non-severe OSA, an α-Klotho cut-off value of 280.3 yielded a sensitivity of 84.44% and specificity of 75%, whereas an FGF-23 cut-off value of 75.5 yielded a sensitivity of 62.2% and specificity of 72.7%. Conclusions: Serum α-Klotho levels significantly decrease while FGF-23 levels increase in correlation with OSA severity. α-Klotho exhibited superior predictive performance over FGF-23 in identifying severe OSA, suggesting its potential as a more sensitive biomarker for systemic involvement. These results indicate that the α-Klotho/FGF-23 axis is independently associated with OSA and may play a pivotal role in the pathophysiological mechanisms linking intermittent hypoxia to increased cardiometabolic risk. Full article

Background/Objectives: Nasal reconstruction after non-melanoma skin cancer excision remains challenging due to the need to restore both nasal form and function while ensuring oncologic safety. Beyond surgical success, patient-reported outcomes are increasingly recognized as essential components of postoperative evaluation. The aim of this study was to retrospectively assess oncologic, surgical, and patient-reported outcomes in a real-world cohort of patients undergoing nasal reconstruction following skin cancer excision. Methods: A retrospective cohort study was conducted on 60 patients treated at the University Hospital “G. Martino” (Messina, Italy) between 2019 and 2022. Reconstructive techniques included direct closure, full-thickness skin grafts, local or regional flaps. Oncologic outcomes and postoperative complications were recorded during routine follow-up. Patient-reported outcomes were evaluated using a semi-structured PROM-derived questionnaire adapted from the FACE-Q Skin Cancer Module, NOSE, and SCaFF domains. Internal consistency of the questionnaire was assessed using Cronbach’s alpha. Results: Basal cell carcinoma was the most frequent diagnosis (55%), and the nasal ala, dorsum, and tip were the most commonly involved subunits. Local flaps were performed in 42% of cases. No histologically confirmed recurrences were observed in the flap-reconstructed subgroup during the available follow-up, whereas recurrences were observed in patients managed with non-flap reconstructive approaches. Postoperative complications were uncommon; however, one fatal infectious event occurred in a high-risk patient undergoing complex reconstruction for recurrent disease. The PROM-derived questionnaire demonstrated good internal consistency (Cronbach’s α = 0.82). Functional symptoms were rare, with 93% of patients reporting no snoring or nasal obstruction and 97% reporting no nasal voice alteration. Aesthetic satisfaction was rated as satisfactory or very satisfactory by 63% of patients, and social relationships were not affected in 85%. Patient-perceived recurrence risk (38%) exceeded histologically confirmed recurrence (15%). Conclusions: In this elderly real-world cohort, flap-based nasal reconstruction was associated with generally favorable patient-centered outcomes and low complication rates. The discrepancy between patient-perceived and confirmed recurrence highlights the role of oncologic anxiety. Prospective studies using fully validated PROMs are warranted to support standardized outcome comparison and guide clinical decision-making. Full article

The role of body position during sleep, particularly the supine position, is now recognized as an important factor in the development of sleep-disordered breathing such as snoring, apnea, and hypopnea. This pilot study aimed to evaluate the efficacy of a new wearable vibrotactile device (SoftSleep) in reducing sleep time in the supine position without negatively affecting total sleep duration or perceived sleep quality. This pilot study included 20 healthy volunteers. Sleep was monitored over two consecutive nights: the first night without positional therapy (PT) and the second night using a PT device. The primary outcome measures were total sleep time, sleep duration in the supine position, number of position changes, and subjective sleep quality (using the modified Pittsburgh Sleep Quality Index). Use of SoftSleep showed a significant reduction in the mean proportion of sleep in the supine position from 56.01% to 7.84% (p < 0.001). Total sleep time did not change significantly (7:39 ± 1:33 vs. 7:42 ± 1:19; p > 0.05). A moderate increase in the number of position changes was not accompanied by a deterioration in subjective sleep quality: 90% of participants rated their sleep with the device as very good or fairly good. Only three participants reported brief awakenings, which did not affect their overall perception of nighttime rest. These results indicate that the SoftSleep device effectively promotes sleep in a non-supine position without altering sleep quality or subjective perception of sleep. The high tolerability of the device confirms its potential for further clinical evaluation in patients with positional sleep apnea. Full article

Background: Obstructive sleep apnea (OSA) is associated with increased cardiovascular morbidity; however, its relationship with subclinical coronary atherosclerosis detected incidentally on routine chest computed tomography (CT) remains incompletely defined. We aimed to evaluate the association between questionnaire-based OSA risk and moderate-to-severe coronary artery calcification (CAC) in patients without known cardiac disease undergoing non-contrast chest CT for non-cardiac indications. Methods: In this prospective cross-sectional study, 268 consecutive adults undergoing routine non-contrast chest CT were included. OSA risk was assessed using the Berlin Questionnaire (BQ) and a modified BQ (mBQ), excluding hypertension and obesity components. CAC was quantified using the Agatston method on non-gated CT images, and moderate-to-severe CAC was defined as a score > 100. Multivariable logistic regression models were adjusted for age, sex, smoking status, alcohol use, obesity, lung disease, diabetes mellitus and hypertension. Results: Moderate-to-severe CAC was substantially more prevalent among patients at high risk for OSA than among those at low risk (43.1% vs. 12.0%, p < 0.001). In unadjusted analyses, high-risk OSA was strongly associated with CAC > 100. After multivariable adjustment, BQ-defined high-risk OSA remained independently associated with moderate-to-severe CAC (adjusted odds ratio [OR] 2.74, 95% confidence interval [CI] 1.29–5.78, p = 0.008). Similar results were observed with the mBQ (adjusted OR 2.62, 95% CI 1.27–5.41, p = 0.009). Increased snoring intensity was also independently associated with CAC > 100 (adjusted OR 2.25, 95% CI 1.07–4.72, p = 0.032). Conclusions: Questionnaire-defined high-risk OSA is independently associated with moderate-to-severe incidental CAC detected on routine chest CT. These findings support the integration of sleep-related risk assessment into opportunistic cardiovascular imaging frameworks and highlight the potential role of thoracic CT in multidimensional cardiovascular risk stratification. Full article

Pediatric obstructive sleep apnea (OSA) is a prevalent and underdiagnosed condition associated with significant neurocognitive, behavioral, and systemic consequences. Sleep-related breathing disorders (SRBDs) in children range from primary snoring to OSA, with even mild forms increasingly linked to adverse outcomes. Given their frequent contact with pediatric patients, pediatric dentists and orthodontists are uniquely positioned to contribute to early identification and management within a multidisciplinary framework. Objectives: This narrative review aimed to summarize and critically appraise current evidence to clarify the clinical role, scope of practice, and responsibilities of pediatric dentists and orthodontists within the multidisciplinary management of pediatric obstructive sleep apnea. A comprehensive literature search was conducted in PubMed, Scopus, Web of Science, and EMBASE up to 1 November 2025. Review articles addressing the involvement of pediatric dentists and orthodontists in pediatric OSA were included. No restriction was applied to language or publication year. Two authors independently performed study selection and data extraction. The methodological quality and data extraction of the studies were structured according to the SANRA scale. Ten studies were deemed suitable for inclusion in the current review. After examination of the full texts, the available evidence was filtered into specific clinical domains aimed at clarifying the role of the pediatric dentist and orthodontist in the management of pediatric obstructive sleep apnea (OSA). Qualitative thematic analysis of the included studies identified three main areas in which pediatric dentists and orthodontists contribute to the management of pediatric OSA. The first area involves screening through recognition of clinical signs and symptoms, use of validated questionnaires, and identification of craniofacial and occlusal features associated with increased airway risk. The second area concerns participation in the diagnostic–therapeutic pathway and multidisciplinary care, including timely referral, clinical documentation, and collaboration with pediatricians, otolaryngologists, and sleep specialists. The third area relates to orthodontic treatments such as rapid maxillary expansion and mandibular advancement appliances, which may provide adjunctive benefits in selected patients, although current evidence is limited by heterogeneity and growth-related confounding factors. Pediatric dentists and orthodontists play a pivotal yet complementary role in the management of pediatric OSA. In particular, all the involved specialists are encouraged to actively participate in the screening process, interdisciplinary communication, and diagnostic and therapeutic decision-making processes. Full article

Background/Objectives: Pediatric sleep-disordered breathing (SDB) is influenced by craniofacial morphology and host susceptibility. Evidence integrating cephalometric airway features with targeted genetic variation in symptomatic skeletal Class II children remains limited. We explored whether children with skeletal Class II mandibular retrognathia and SDB symptoms harbor selected genetic variants and whether carriers show distinct cephalometric airway characteristics. Methods: This cross-sectional study included 48 children with skeletal Class II malocclusion, mandibular retrognathia, and snoring/mouth-breathing symptoms. Craniofacial and airway parameters were assessed on lateral cephalograms. SDB burden was evaluated by a baseline home sleep study (respiratory event index, REI). Targeted sequencing screened TNFRSF1A, PSTPIP1, SLC6A4 (5HTT), ACE, APOE, IRS1, and additionally PHOX2B and PMP22. Exploratory group comparisons used Student’s t-test. Results: Variants were identified in 13/48 participants (27%) in TNFRSF1A, PSTPIP1, SLC6A4, ACE, APOE, and IRS1; none were detected in PHOX2B or PMP22. C3–H was higher in variant carriers (39.90 ± 6.40 vs. 36.48 ± 3.95 mm; p < 0.05). HH1 (perpendicular distance from the hyoid bone to the C3–RGN line) was higher but not significant (16.99 ± 7.58 vs. 14.61 ± 5.25 mm; p > 0.05). Conclusions: In this clinically screened pediatric skeletal Class II cohort with SDB symptoms, selected genetic variants co-occurred with specific hyoid–cervical cephalometric features. Given the cross-sectional design, absence of a control group, and small number of carriers, findings are exploratory and require replication in larger, controlled cohorts with standardized phenotyping. Full article

Obstructive sleep apnea (OSA) is a common disorder caused by recurrent upper airway obstruction during sleep, affecting individuals across the lifespan. In children, OSA commonly results from adenotonsillar hypertrophy and may resolve spontaneously or following surgical intervention. Among adolescents and adults, OSA is more frequently associated with modifiable lifestyle factors, particularly obesity. The natural history of OSA may evolve from intermittent snoring and mild disease to moderate or severe forms if left untreated, leading to reduced health-related quality of life and overall health deterioration. Early identification of OSA, especially in mild and moderate cases, allows timely interventions to improve OSA-associated indices and may prevent progression to severe disease. Continuous positive airway pressure therapy remains the treatment of choice for adults, providing effective symptom control and reducing long-term complications, although adherence rates vary. In obese patients, sustained weight reduction represents the most effective disease-modifying strategy: a ≥5% weight loss is associated with an approximately 80% reduction in progression risk, while bariatric surgery achieves remission in up to 60–65% of cases at one year. Emerging anti-obesity pharmacotherapies have also demonstrated clinically meaningful reductions in the apnea–hypopnea index. Comorbid conditions such as hypertension, type 2 diabetes, and depression exacerbate OSA severity, impair treatment response, and complicate overall disease management. This review uniquely integrates pediatric and adult longitudinal data, treatment-modified trajectories, and emerging therapeutic approaches to provide a life-course perspective on OSA natural history, highlighting opportunities for early, phenotype-directed intervention to possibly alter disease course and long-term outcomes. Full article