OBJECTIVE: The recurrence of obstructive sleep apnoea (OSA) after positive airway pressure (PAP) therapy termination has physiological consequences that may increase cardiovascular (CV) risk. We aimed to determine whether PAP termination is associated with an increased incidence of major adverse CV events (MACE) compared with adherent PAP continuation.
METHODS: Data from the Pays de la Loire Sleep Cohort were linked to the French national health insurance database to identify incident MACE (composite outcome of mortality, stroke and cardiac diseases), and CV active drug (lipid-lowering, antihypertensive and antiplatelet drugs, beta-blockers) adherence (medication possession ratio ≥80%). The association of PAP termination with MACE was evaluated using a time-dependent survival Cox model, with adjustment for confounders including CV active drug status.
RESULTS: After a median follow-up of 8 years, 969 of 4188 included patients (median age 58 years, 69.6% men) experienced MACE, 1485 had terminated PAP while 2703 continued PAP with at least 4 hours/night use. 38% of patients were adherent to all CV drugs in the PAP continuation group versus 28% in the PAP termination group (p<0.0001). After adjustment for confounders, PAP termination was associated with an increased risk of MACE (HR (95% CI): 1.39 (1.20 to 1.62); p<0.0001). PAP termination was not associated with incident heart failure and coronary artery disease.
CONCLUSIONS: In this multicentre clinical-based cohort involving 4188 patients with OSA, PAP termination compared with adherent PAP continuation was associated with an increased risk of MACE. More research is needed to determine whether support programmes on PAP adherence could improve CV outcomes.

UNASSIGNED: Obstructive sleep apnoea (OSA) is part of a spectrum of sleep disorders causing snoring, gasping, and choking while sleeping. In children, OSA can also lead to behavioural issues, hyperactivity, and poor academic performance. Thus, early identification and management of OSA in children is crucial in preventing long-term health problems. The gold standard test for diagnosis is an overnight in-lab polysomnography (PSG). However, due to certain constraints associated with PSG, such as lack of accessibility, high expenses incurred, as well as the need for hospitalization, alternative diagnostic tools are needed. Cephalometry is a non-invasive, affordable diagnostic tool that may offer useful information in the evaluation of OSA. The present systematic review and meta-analysis aimed to evaluate the various cephalometric parameters associated with the diagnosis of OSA in children.
UNASSIGNED: A structured literature search was performed using the search engines PubMed, Scopus, Web of Science, Cochrane, and Google scholar from inception till July 2022. The weighted mean difference (z-test) was calculated using a random effects method (REM).
UNASSIGNED: 16 studies were included in the review and meta-analysis was executed for each cephalometric parameter. The parameters of significance (p < 0.05) in Pediatric OSA with lower heterogeneity were associated with McNamara\'s and Linder-Aronson\'s analysis, the hyoid bone position, a retrognathic mandible, and an acute cranial base angle.
UNASSIGNED: Certain parameters in craniofacial morphology may be reliable diagnostic parameters. Further long-term studies are needed in order to shed more light in this area.

OBJECTIVE: The purpose of this systematic review is to evaluate the modifiable risk factors associated with OSA and analyze extant publications solely focused on prevention of the disease.
METHODS: Studies focused on prevention strategies for OSA and modifiable risk factors were eligible for inclusion. A detailed individual search strategy for each of the following bibliographic databases was developed: Cochrane, EMBASE, MEDLINE, PubMed and LILACS. The references cited in these articles were also crosschecked and a partial grey literature search was undertaken using Google Scholar. The methodology of selected studies was evaluated using the 14-item Quality Assessment Tool for Diagnostic Accuracy Studies.
RESULTS: Search resulted in 720 publications examining risk factors and prevention of OSA, as well as lifestyle modifications. Of these, a thorough assessment of the abstracts and content of each of these manuscripts led to the rejection of all but four papers, the latter being included in this systematic review. In contrast, a search regarding \'Therapeutics\' showed that 23,674 articles on OSA were published, clearly illustrating the imbalance between the efforts in prevention and those focused on therapeutics.
CONCLUSIONS: Notwithstanding the importance and benefits of technological advances in medicine, consideration of the needs of people with OSA and its consequences prompts advocacy for the prevention of the disease. Thus, despite the economic interests that focus only on diagnosis and treatment, strategies preferentially aimed at overall avoidance of OSA emerge as a major priority. Thus, public and healthcare provider education, multidimensional prevention, and early diagnosis of OSA should be encouraged worldwide.

OBJECTIVE: The association between snoring, a very common condition that increases with age, and dementia risk is controversial. We aimed to investigate the observational and causal relationship between snoring and dementia, and to elucidate the role of body mass index (BMI).
METHODS: Using data from 451,250 participants who were dementia-free at baseline, we examined the association between self-reported snoring and incident dementia using Cox proportional-hazards models. Causal relationship between snoring and Alzheimer\'s disease (AD) was examined using bidirectional two-sample Mendelian randomization (MR) analysis.
RESULTS: During a median follow-up of 13.6 years, 8,325 individuals developed dementia. Snoring was associated with a lower risk of all-cause dementia (hazard ratio [HR] 0.93; 95% confidence interval [CI] 0.89 to 0.98) and AD (HR 0.91; 95% CI 0.84 to 0.97). The association was slightly attenuated after adjusting for BMI, and was stronger in older individuals, APOE ε4 allele carriers, and during shorter follow-up periods. MR analyses suggested no causal effect of snoring on AD, however, genetic liability to AD was associated with a lower risk of snoring. Multivariable MR indicated that the effect of AD on snoring was primarily driven by BMI.
CONCLUSIONS: The phenotypic association between snoring and lower dementia risk likely stems from reverse causation, with genetic predisposition to AD associated with reduced snoring. This may be driven by weight loss in prodromal AD. Increased attention should be paid to reduced snoring and weight loss in older adults as potential early indicators of dementia risk.

When treating patients with orthognathic surgery, there might be a risk of obstructive sleep apnoea (OSA) due to soft tissue changes in the upper airways, especially in patients treated with isolated mandibular setback or mandibular setback in combination with maxillary advancement. In the present study, we assessed respiratory function during sleep with home cardiorespiratory polygraphy in 62 patients who had not been previously been diagnosed with OSA at three times: prior to orthognathic surgery for aesthetic and functional indications, and then 3 months and 1 year after surgery. We evaluated surgical displacement based on measurements in three dimensions using pre- and post-operative computed tomography. There were only minor changes in the respiratory parameters such as the apnoea-hypopnoea index (AHI), the apnoea-hypopnoea index in the supine position (AHIsup), the oxygen saturation index (ODI) and the snore index. There was no significant correlation between surgical displacement and the AHI, AHIsup and ODI. There was a weak but significant correlation between vertical displacement of the anterior mandible and the snore index. Within the limitations of the present study, the risk for iatrogenic obstruction of the upper airways seems to be low in patients without OSA treated with orthognathic surgery.

BACKGROUND: In adults and children with intellectual disability (ID), sleep -disordered breathing (SDB) is thought to be common. However, large epidemiological studies are lacking, and there are few studies on optimal methods of investigation and even fewer randomised, controlled intervention trials of treatment.
METHODS: Peer-reviewed publications from various databases were examined in line with search terms relevant to ID and SDB spanning the years 200-2024.
RESULTS: Findings suggest that, due to comorbid conditions, children and adults with ID may experience both an increased risk of SDB, as well as lower frequency of diagnosis. SDB can compromise the emotional, physical and mental health of individuals with ID. Appropriate treatment when tolerated leads to an improvement in health and well-being and several studies emphasized the importance of consistent follow-up of people with ID - something that is not universally occurring during childhood, in the transition to adulthood and during adulthood itself. As the most frequently occurring form of ID worldwide, we use Down syndrome as a specific example of how diagnosing and treating SDB can lead to improved outcomes.
CONCLUSIONS: This review highlights the importance of identifying SDB in this heterogenous population, recognising the multi-faceted, deleterious consequences of untreated SDB in people with ID, and presents some strategies that can be harnessed to improve diagnosis and management. Until further ID-specific research is available, we urge flexibility in the approach to people with ID and SDB based in guidelines and standard practice developed for the typically developing population.

Background: Respiratory effort is considered important in the context of the diagnosis of obstructive sleep apnoea (OSA), as well as other sleep disorders. However, current monitoring techniques can be obtrusive and interfere with a patient\'s natural sleep. This study examines the reliability of an unobtrusive tracheal sound-based approach to monitor respiratory effort in the context of OSA, using manually marked respiratory inductance plethysmography (RIP) signals as a gold standard for validation. Methods: In total, 150 patients were trained on the use of type III cardiorespiratory polygraphy, which they took to use at home, alongside a neck-worn AcuPebble system. The respiratory effort channels obtained from the tracheal sound recordings were compared to the effort measured by the RIP bands during automatic and manual marking experiments. A total of 133 central apnoeas, 218 obstructive apnoeas, 263 obstructive hypopneas, and 270 normal breathing randomly selected segments were shuffled and blindly marked by a Registered Polysomnographic Technologist (RPSGT) in both types of channels. The RIP signals had previously also been independently marked by another expert clinician in the context of diagnosing those patients, and without access to the effort channel of AcuPebble. The classification achieved with the acoustically obtained effort was assessed with statistical metrics and the average amplitude distributions per respiratory event type for each of the different channels were also studied to assess the overlap between event types. Results: The performance of the acoustic effort channel was evaluated for the events where both scorers were in agreement in the marking of the gold standard reference channel, showing an average sensitivity of 90.5%, a specificity of 98.6%, and an accuracy of 96.8% against the reference standard with blind expert marking. In addition, a comparison using the Embla Remlogic 4.0 automatic software of the reference standard for classification, as opposed to the expert marking, showed that the acoustic channels outperformed the RIP channels (acoustic sensitivity: 71.9%; acoustic specificity: 97.2%; RIP sensitivity: 70.1%; RIP specificity: 76.1%). The amplitude trends across different event types also showed that the acoustic channels exhibited a better differentiation between the amplitude distributions of different event types, which can help when doing manual interpretation. Conclusions: The results prove that the acoustically obtained effort channel extracted using AcuPebble is an accurate, reliable, and more patient-friendly alternative to RIP in the context of OSA.

OBJECTIVE: This study aims to explore the common genetic basis between respiratory diseases and to identify shared molecular and biological mechanisms.
METHODS: This genome-wide pleiotropic association study uses multiple statistical methods to systematically analyse the shared genetic basis between five respiratory diseases (asthma, chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis, lung cancer and snoring) using the largest publicly available genome wide association studies summary statistics. The missions of this study are to evaluate global and local genetic correlations, to identify pleiotropic loci, to elucidate biological pathways at the multiomics level and to explore causal relationships between respiratory diseases. Data were collected from 27 November 2022 to 30 March 2023 and analysed from 14 April 2023 to 13 July 2023.
METHODS: The primary outcomes are shared genetic loci, pleiotropic genes, biological pathways and estimates of genetic correlations and causal effects.
RESULTS: Significant genetic correlations were found for 10 paired traits in 5 respiratory diseases. Cross-Phenotype Association identified 12 400 significant potential pleiotropic single-nucleotide polymorphism at 156 independent pleiotropic loci. In addition, multitrait colocalisation analysis identified 15 colocalised loci and a subset of colocalised traits. Gene-based analyses identified 432 potential pleiotropic genes and were further validated at the transcriptome and protein levels. Both pathway enrichment and single-cell enrichment analyses supported the role of the immune system in respiratory diseases. Additionally, five pairs of respiratory diseases have a causal relationship.
CONCLUSIONS: This study reveals the common genetic basis and pleiotropic genes among respiratory diseases. It provides strong evidence for further therapeutic strategies and risk prediction for the phenomenon of respiratory disease comorbidity.

OBJECTIVE: Pulmonary vein isolation (PVI) is the corner stone of modern rhythm control strategies in patients with atrial fibrillation (AF). Sleep-disordered breathing (SDB) is prevalent in more than 50% of patients undergoing AF ablation, and studies have indicated a greater recurrence rate after PVI in patients with SDB. Herein, we study the effect of catheter-based PVI on AF in a pig model for SDB.
RESULTS: In 11 sedated spontaneously breathing pigs, obstructive apnoeas were simulated by 75 s of intermittent negative upper airway pressure (INAP) applied by a negative pressure device connected to the endotracheal tube. Intermittent negative upper airway pressures were performed before and after PVI. AF-inducibility and atrial effective refractory periods (aERPs) were determined before and during INAP by programmed atrial stimulation. Pulmonary vein isolation prolonged the aERP by 48 ± 27 ms in the right atrium (RA) (P < 0.0001) and by 40 ± 34 ms in the left atrium (LA) (P = 0.0004). Following PVI, AF-inducibility dropped from 28 ± 26% to 0% (P = 0.0009). Intermittent negative upper airway pressure was associated with a transient aERP-shortening (ΔaERP) in both atria, which was not prevented by PVI (INAP indued ΔaERP after PVI in the RA: -57 ± 34 ms, P = 0.0002; in the LA: -42 ± 24 ms, P < 0.0001). Intermittent negative upper airway pressure was associated with a transient increase in AF-inducibility (from 28 ± 26% to 69 ± 21%; P = 0.0008), which was not attenuated by PVI [INAP-associated AF-inducibility after PVI: 58 ± 33% (P = 0.5)].
CONCLUSIONS: Transient atrial arrhythmogenic changes related to acute obstructive respiratory events are not prevented by electrical isolation of the pulmonary veins, which partially explains the increased AF recurrence in patients with SDB after PVI procedures.

Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition. However, many people are lost to follow-up after the transition from paediatric to adult care, and there is no standardised approach for management in adults, despite the recent availability of international consensus guidelines. To address this, the European Achondroplasia Forum has developed a patient-held checklist to support adults with achondroplasia in managing their health. The checklist highlights key symptoms of spinal stenosis and obstructive sleep apnoea, both among the most frequent and potentially severe medical complications in adults with achondroplasia. The checklist acts as a framework to support individuals and their primary care provider in completing a routine review. General advice on issues such as blood pressure, pain, hearing, weight, adaptive aids, and psychosocial aspects are also included. The checklist provides key symptoms to be aware of, in addition to action points so that people can approach their primary care provider and be directed to the appropriate specialist, if needed. Additionally, the European Achondroplasia Forum offers some ideas on implementing the checklist during the transition from paediatric to adult care, thus ensuring the existing multidisciplinary team model in place during childhood can support in engaging individuals and empowering them to take responsibility for their own care as they move into adulthood.