Sleep-disordered breathing in children and adults with intellectual disability: mind the gap!

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. METHOD: 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.

A systematic review of the performance of actigraphy in measuring sleep stages.

The accuracy of actigraphy for sleep staging is assumed to be poor, but examination is limited. This systematic review aimed to assess the performance of actigraphy in sleep stage classification of adults. A systematic search was performed using MEDLINE, Web of Science, Google Scholar, and Embase databases. We identified eight studies that compared sleep architecture estimates between wrist-worn actigraphy and polysomnography. Large heterogeneity was found with respect to how sleep stages were grouped, and the choice of metrics used to evaluate performance. Quantitative synthesis was not possible, so we performed a narrative synthesis of the literature. From the limited number of studies, we found that actigraphy-based sleep staging had some ability to classify different sleep stages compared with polysomnography.

The association between obstructive sleep apnoea and wound healing: a systematic review.

PURPOSE: Obstructive sleep apnoea (OSA) is a common, significantly underdiagnosed sleep-related breathing disorder, characterised by upper airway collapse and resultant intermittent hypoxia. Oxygen plays an important role in collagen synthesis and as a result in wound healing. An association between OSA and wound healing has not been clearly delineated. A systematic review was performed to understand this association. METHODS: Randomised controlled trials, cohort, cross-sectional and case-control studies evaluating the relationship between OSA or OSA-related symptoms and wound healing in adult populations were searched in the systematic review using electronic databases PubMed, EMBASE and Ovid MEDLINE. MAIN RESULTS: A total of 11 cohort studies and 1 case-control study with a total of 58,198,463 subjects were included. Most studies suggest that patients diagnosed with OSA or who are at high risk of having OSA are more likely to suffer from wound complications. Patients with OSA have been found to be at higher risk for post-operative wound infection and wound dehiscence. Contradictory results were obtained on time to heal, with one study concluding that individuals with OSA were more likely to heal earlier when compared to patients without OSA. Quality of evidence, however, was deemed very low due to high risk of bias. CONCLUSIONS: This systematic review did identify an association between OSA and wound healing. However, due to the very low-quality evidence, further research is warranted to better characterise this association and investigate whether or not treating OSA can indeed affect wound healing.

10-year anniversary of the European Somnologist examination - A historic overview and critical appraisal.

The European Somnologist certification programme was developed by the European Sleep Research Society to improve patient care in sleep medicine by providing an independent evaluation of theoretical and practical knowledge. The examination of eligible experts plays a key role in this procedure. A process was started more than 15 years ago to create the European sleep medicine curriculum, eligibility criteria for certification, and sleep centre accreditation criteria. The process was characterised by interdisciplinary collaboration, consensus, and achieving new solutions. During the past 10 years, experience has been gained by the examination and certification of more than 1000 sleep medicine experts from more than 50 countries. The process has continuously been improved. However, as the programme was designed and administered mainly by medical experts in the field, systematic influence from teaching and pedagogic experts was partially underrepresented. The current critical appraisal pinpoints several missing links in the process - mainly as a missing constructive alignment between learning objectives, learning and teaching activities, and the final assessment. A series of suggestions has been made to further improve the ESRS certification programme.

Sleep medicine catalogue of knowledge and skills - Revision.

The 'catalogue of knowledge and skills' for sleep medicine presents the blueprint for a curriculum, a textbook, and an examination on sleep medicine. The first catalogue of knowledge and skills was presented by the European Sleep Research Society in 2014. It was developed following a formal Delphi procedure. A revised version was needed in order to incorporate changes that have occurred in the meantime in the International Classification of Sleep Disorders, updates in the manual for scoring sleep and associated events, and, most important, new knowledge in sleep physiology and pathophysiology. In addition, another major change can be observed in sleep medicine: a paradigm shift in sleep medicine has taken place. Sleep medicine is no longer a small interdisciplinary field in medicine. Sleep medicine has increased in terms of recognition and importance in medical care. Consequently, major medical fields (e.g. pneumology, cardiology, neurology, psychiatry, otorhinolaryngology, paediatrics) recognise that sleep disorders become a necessity for education and for diagnostic assessment in their discipline. This paradigm change is considered in the catalogue of knowledge and skills revision by the addition of new chapters.

Comparison of antibody titers in donor specimens and associated AS-1 leukoreduced donor units.

BACKGROUND: Donor units with unexpected antibodies to red blood cell (RBC) antigens have transfusion restrictions and are often discarded by collection facilities. This study examined the antibody titer reduction in AS-1 leukoreduced RBC (LR-RBC) units and potential acceptability of these units for unrestricted transfusions. STUDY DESIGN AND METHODS: Donor specimens and AS-1 LR-RBC segment samples from donors with positive antibody screens and group O donors were analyzed. Antibody identifications were performed, and titer results from the matched serum samples and segment supernatants were compared. RESULTS: During the 5-month study, 39 donor samples with positive antibody screens, five random group O donor samples, and the associated LR-RBC unit segments were assessed. The median donor sample and segment supernatant titers were 4 and 1, respectively. Alloantibodies were undetectable in 28% of the donor segment supernatants. The median anti-A and anti-B titers in the group O donor samples were 128 and were reduced to 32 in the donor segment supernatants. All ABO and other antibodies were diluted by the AS-1 to a titer of not more than 32. CONCLUSION: Antibody titers in AS-1 LR-RBC units were significantly decreased compared to donor specimens and were lower than anti-A and -B titers in group O AS-1 LR-RBC units, which are frequently transfused to non-group O recipients. If a "clinically significant" titer for donor alloantibodies was established, blood centers could determine eligibility of units for unrestricted transfusions. This would decrease unnecessary RBC wastage and increase units available for transfusion.

Prevalence of obstructive sleep apnea (OSA) among preschool aged children in the general population: A systematic review.

Untreated pediatric obstructive sleep apnea (OSA) is associated with significant morbidities affecting behavior, neurocognitive development, endocrine and metabolic health. This systematic review evaluated prevalence of OSA reported in population-based studies among preschoolers as early intervention may have positive effects on health and quality of life. Thirty studies were included. High degrees of heterogeneity in methods and definitions were observed between the studies. Seven studies confirmed OSA by implementing objective methods after screening for habitual snoring with only two studies utilizing polysomnography, the reference standard, testing 1.2% of the combined cohorts (n = 82/4575) to confirm disease. Diagnosis of OSA was based on utilizing retired thresholds of the apnea-hypopnea-index (AHI), AHI4%≥5/hour of sleep (hrSleep), reporting prevalence of 1.8% and 6.4%, respectively. The remaining five studies implemented relatively insensitive objective recording methods to confirm disease in a limited number of children (n = 449/2486; 18.0%), estimating prevalence in the range of 0.7%-13.0%. The remaining literature is based on implementing questionnaires only to evaluate OSA. Studies published before 2014 reported 3.3%-9.4% prevalence, while more recent studies published 2016-2023 report higher prevalence, 12.8%-20.4%, when excluding outliers. This trend suggests that prevalence of OSA may possibly have been increasing in preschoolers over the past decade.

A case-control study to investigate the prevalence of obstructive sleep apnea and the utility of the Sleep-Related Breathing Disorder scale of the Pediatric Sleep Questionnaire in children and young people with epilepsy.

STUDY OBJECTIVES: Epilepsy and obstructive sleep apnea syndrome (OSAS) are each relatively common in children. OSAS may affect cognition, such that recognition of OSAS is important for children and young people with epilepsy (CYPWE). Published pilot data reported 55% of CYPWE had symptoms suggestive of OSAS, compared with 7% of typically developing controls. The primary aim of this study was to ascertain OSAS prevalence by polysomnography in CYPWE, with secondary aims being to evaluate the utility of sleep questionnaires in CYPWE. METHODS: CYPWE and age- and sex-matched typically developing controls were studied. A single night of level I attended polysomnography was undertaken, along with questionnaires (Sleep-Related Breathing Disorder scale of the Pediatric Sleep Questionnaire, Pittsburgh Sleep Quality Index, and the childhood and adolescent Epworth Sleepiness Scale). OSAS was defined as obstructive apnea-hypopnea index of ≥ 1 event/h. RESULTS: Polysomnography was performed in 72 children including 48 CYPWE (60% male) and 24 controls (54% male). Mean age (11 years) was similar for CYPWE and controls (P = .42), with slightly higher body mass index z scores (0.7 vs 0.1, P = .03) noted in CYPWE. Mean obstructive apnea-hypopnea index was 0.61 in CYPWE vs 0.42 in controls (P = .62). Despite higher Sleep-Related Breathing Disorder scale of the Pediatric Sleep Questionnaire scores in CYPWE (0.38 vs 0.12, P < .001), no difference in OSAS prevalence (10% vs 4%, P = .78) was found. CYPWE had higher childhood and adolescent Epworth Sleepiness Scale (6 vs 3.5, P = .01) and Pittsburgh Sleep Quality Index (5 vs 3.3, P = .02) scores, indicating greater levels of daytime sleepiness and poorer sleep quality. CONCLUSIONS: The study found no evidence for increased OSAS prevalence in CYPWE, and the utility of the Sleep-Related Breathing Disorder scale of the Pediatric Sleep Questionnaire in predicting OSAS appears limited for CYPWE. CYPWE are, however, demonstrably sleepier and have poorer sleep quality. The cause for these findings remains unclear. CLINICAL TRIAL REGISTRATION: Registry: ClinicalTrials.gov; Name: Investigation of Sleep Quality and Prevalence of Sleep-disordered Breathing in Children and Young People With Epilepsy; URL: https://www.clinicaltrials.gov/study/NCT03103841; Identifier: NCT03103841. CITATION: Urquhart DS, McLellan AE, Hill LE, et al. A case-control study to investigate the prevalence of obstructive sleep apnea and the utility of the Sleep-Related Breathing Disorder scale of the Pediatric Sleep Questionnaire in children and young people with epilepsy. J Clin Sleep Med. 2024;20(7):1039-1047.

Retinal microvascular phenotypes can track small vessel disease burden and CPAP treatment effectiveness in obstructive sleep apnoea.

Optical coherence tomography angiography (OCT-A) retinal imaging enables in vivo visualization of the retinal microvasculature that is developmentally related to the brain and can offer insight on cerebrovascular health. We investigated retinal phenotypes and neuroimaging markers of small vessel disease (SVD) in individuals with obstructive sleep apnoea (OSA). We enrolled 44 participants (mean age 50.1 ± SD 9.1 years) and performed OCT-A imaging before and after continuous positive airway pressure (CPAP) therapy. Pre-treatment analyses using a generalized estimating equations model adjusted for relevant covariates, revealed perivascular spaces (PVS) volume in basal ganglia associated with greater foveal vessel density (fVD) (p-value < 0.001), and smaller foveal avascular zone area (p-value = 0.01), whereas PVS count in centrum semiovale associated with lower retinal vessel radius (p-value = 0.02) and higher vessel tortuosity (p-value = 0.01). A reduction in retinal vessel radius was also observed with increased OSA severity (p-value = 0.05). Post-treatment analyses showed greater CPAP usage was associated with a decrease in fVD (p-value = 0.02), and increased retinal vessel radius (p-value = 0.01). The findings demonstrate for the first time the potential use of OCT-A to monitor CPAP treatment and its possible impact on both retinal and brain vascular health.

Acoustic Screening for Obstructive Sleep Apnea in Home Environments Based on Deep Neural Networks.

Obstructive sleep apnea (OSA) is a chronic and prevalent condition with well-established comorbidities. However, many severe cases remain undiagnosed due to poor access to polysomnography (PSG), the gold standard for Obstructive sleep apnea (OSA) diagnosis. Accurate home-based methods to screen for OSA are needed, which can be applied inexpensively to high-risk subjects to identify those that require PSG to fully assess their condition. A number of methods that analyse speech or breathing sounds to screen for OSA have been previously investigated. However, these methods have constraints that limit their use in home environments (e.g., they require specialised equipment, are not robust to background noise, are obtrusive or depend on tightly controlled conditions). This paper proposes a novel method to screen for OSA, which analyses sleep breathing sounds recorded with a smartphone at home. Audio recordings made over a whole night are divided into segments, each of which is classified for the presence or absence of OSA by a deep neural network. The apnea-hypopnea index estimated from the segments predicted as containing evidence of OSA is then used to screen for the condition. Audio recordings made during home sleep apnea testing from 103 participants for 1 or 2 nights were used to develop and evaluate the proposed system. When screening for moderate OSA the acoustics based system achieved a sensitivity of 0.79 and a specificity of 0.80. The sensitivity and specificity when screening for severe OSA were 0.78 and 0.93, respectively. The system is suitable for implementation on consumer smartphones.

High prevalence of obstructive sleep apnea in pregnant women with class III obesity: a prospective cohort study.

STUDY OBJECTIVES: To determine the prevalence of obstructive sleep apnea (OSA) in a cohort of women with class III obesity, and a comparator lean group, in the second and third trimesters of pregnancy. Secondary objectives were to compare characteristics of women with obesity with and without OSA and to assess factors that were predictive of OSA. METHODS: We performed a prospective cohort study involving 33 women with class III obesity (mean body mass index 43.5 ± 3.9 kg/m2) and 39 lean women (body mass index 22.0 ± 1.7 kg/m2) with singleton pregnancies. Participants completed 2 level 3 sleep studies between 12-22 weeks and 32-38 weeks gestation. OSA was defined as a respiratory event index ≥ 5 events/h (≥ 3% desaturation criteria). Levels of interleukin-6, glucose, and C-peptide were quantified in maternal blood. Logistic regression analysis was performed to determine predictors of OSA. RESULTS: OSA was identified in 12 (37.5%) and 14 (50.0%) women with obesity and in 1 (2.6%) and 3 (9.1%) lean women in the second and third trimesters, respectively. Women with obesity with OSA were older than those with no OSA but otherwise had similar characteristics. In unadjusted analysis of women with obesity, increased age, body mass index, homeostatic model assessment of insulin resistance, and history of nonsmoking were associated with increased odds of OSA. In multivariable analysis, only increased age remained significantly associated with OSA. CONCLUSIONS: OSA is highly prevalent in pregnant women with class III obesity. Further research is required to establish effective management strategies for the growing number of women in this high-risk group. CITATION: Johns EC, Hill EA, Williams S, et al. High prevalence of obstructive sleep apnea in pregnant women with class III obesity: a prospective cohort study. J Clin Sleep Med. 2022;18(2):423-432.

Gene expression profiling of placentae from women with obesity and obstructive sleep apnoea.

INTRODUCTION: Obstructive sleep apnoea (OSA), a condition characterised by intermittent hypoxia and reoxygenation during sleep, is associated with an increased risk of adverse pregnancy outcomes including gestational diabetes and hypertensive disorders of pregnancy. The biological mechanisms of these associations are poorly understood. The impact of OSA on placental function has not been well characterised. METHODS: We performed 3' mRNA sequencing on placenta from women with obesity and OSA (n = 11) and women with obesity and no OSA (n = 9). RESULTS: After correcting for multiple testing, there were no statistically significant differences in gene expression between OSA and no OSA groups (adjusted p < 0.05). In unadjusted analyses, 101 genes were differentially expressed in OSA compared to no OSA placentae (p < 0.01). In Reactome pathway and GO term analysis, this included downregulation of genes involved in O-linked glycosylation (B3GNT5 and B3GNT8) and Wnt signalling (TRABD2B and FRZB) pathways. In gene set enrichment analysis, genes within 24 pathways had a non-random distribution in OSA compared to no OSA placentae (adjusted p < 0.05). This included an increase in genes relating to the reversible hydration of carbon dioxide in OSA placentae, a potential novel mechanism contributing to the development of adverse pregnancy outcomes in women with OSA. DISCUSSION: There is overall similarity in the placental transcriptome of women with obesity who do and do not have OSA during pregnancy. Alterations in the reversible hydration of carbon dioxide are a potential mechanism contributing to the development of adverse pregnancy outcomes in maternal OSA, however this finding requires validation in larger cohorts.

Objective and Subjective Prevalence of Obstructive Sleep Apnoea/Hypopnoea Syndrome in UK Adults with Down Syndrome: A Strong Marker for Diurnal Behavioural Disturbances.

Prior to this study, the prevalence of obstructive sleep apnoea/hypopnoea syndrome (OSAHS) in adults with Down syndrome was unknown. We hypothesized that unrecognised OSAHS could have an additional deleterious impact on mood and behavioural disturbances in this group of people. AIMS: To assess the prevalence of OSAHS in adults with Down syndrome in the United Kingdom, subjectively and objectively, and ascertain its association with diurnal behavioural disturbances. METHOD: Cross-sectional questionnaire study with home sleep apnoea testing (HSAT) during 2011-2015 across the four nations of the United Kingdom. Participants were adults aged ≥16 years with Down syndrome. Main outcome measures were: self- or caregiver-completed questionnaire data, including the Pictorial Epworth Sleepiness Scale (pESS), selected domains of the Developmental Behavioural Checklist for Adults (DBC-A), anthropometric measures, and symptoms of OSAHS. Objective prevalence was undertaken in a sample of responders using HSAT. RESULTS: Responses were received from 1321/5270 participants (25%), with 1105 valid responses (21%). Eighty-one participants (7%) reported a prior diagnosis of OSA, of whom 38 were receiving therapy. Using validated algorithms, a diagnosis of OSAHS was probable in 366 participants (35%), who were younger, with higher BMI and higher mean total pESS (p < 0.0001). A total of 23% of participants had a pESS > 10. OSAHS was a strong marker for behavioural disturbances on the DBC-A depression, disruption and anti-social subscales (p < 0.001). Of 149 individuals who underwent HSAT, 42% were diagnosed with OSAHS. CONCLUSIONS: Untreated OSAHS in Down syndrome is common and associated with behavioural and mood disturbances. Improving awareness of OSAHS amongst adults with Down syndrome, their families and healthcare professionals is essential.

Prospective Trial of CPAP in Community-Dwelling Adults with Down Syndrome and Obstructive Sleep Apnea Syndrome.

Adults with Down syndrome (DS) are predisposed to obstructive sleep apnoea (OSA), but the effectiveness and acceptability of continuous positive airway pressure treatment (CPAP) in this group has rarely been formally assessed. This study was designed as a pilot randomised, parallel controlled trial for one month, continuing as an uncontrolled cohort study whereby the control group also received the intervention. Symptomatic, community-dwelling DS individuals exhibiting ≥10 apnoeas/hypopneas per hour in bed on a Type 3 home sleep study were invited to participate in this study, with follow-up at 1, 3, 6, and 12 months from baseline. Measurements of sleepiness, behaviour, cognitive function and general health were undertaken; the primary outcome was a change in the pictorial Epworth Sleepiness Scale (pESS) score. Twenty-eight participants (19 male) were enrolled: age 28 ± 9 year; body mass index 31.5 ± 7.9 kg/m2; 39.6 ± 32.2 apnoeas/hypopneas per hour in bed; pESS 11 ± 6/24. The pilot randomised controlled trial at one month demonstrated no change between the groups. At 12 months, participant (p = 0.001) pESS and Disruptive (p < 0.0001), Anxiety/Antisocial (p = 0.024), and Depressive (p = 0.008) behaviour scores were reduced compared to baseline. Improvement was noted in verbal (p = 0.001) and nonverbal intelligence scores (p = 0.011). General health scores also improved (p = 0.02). At the end of the trial, 19 participants continued on treatment. Use of CPAP in adults with DS and OSA led to a number of significant, sustained improvements in sleepiness and behavioural/emotional outcomes at 12 months.

A Cross-Sectional Comparison of the Prevalence of Obstructive Sleep Apnea Symptoms in Adults With Down Syndrome in Scotland and Japan.

Small studies in Western populations report a high prevalence of obstructive sleep apnea (OSA) in adults with Down syndrome. To date, ethnic differences have not been explored. A questionnaire sent to 2,752 adults with Down syndrome aged ≥16 years in Scotland and Japan (789 valid responses) estimated OSA prevalence based on reported symptoms. Symptoms were common in both countries, with snoring (p = 0.001) and arousals (p = 0.04) more prevalent in Japan. Estimated OSA prevalence in adults with Down syndrome was similar in the two countries, and raised in comparison with the general adult population (19.6% in Scotland and 14.3% in Japan; p = 0.08), though BMI was a confounder. Identification and treatment of OSA is recommended in adults with Down syndrome, regardless of ethnicity.

Utility of the pictorial Epworth sleepiness scale in the adult down syndrome population.

OBJECTIVE/BACKGROUND: The utility of the pictorial Epworth sleepiness scale (pESS) has been assessed by only a few studies in a clinical population. Some of its questions may be inappropriate in certain patient groups. The aim of this study was to assess the utility of the pESS in the adult Down syndrome (DS) population in the United Kingdom (UK). PATIENTS/METHODS: A modified sleep questionnaire including the pESS was administered to 5430 adults with DS living in the UK. Standard statistical analysis was undertaken. RESULTS: Of 1105 valid responses (20.35%), the pESS was incomplete in 129 (11.67%) cases. Of the incomplete responses, "Q1. Likelihood of dozing/falling sleep while sitting and reading?" was most frequently missed (63.6% of 129 responses). CONCLUSIONS: The pESS may not be entirely appropriate in certain populations such as those with intellectual disability where literacy levels may be low. Question modification may be necessary. CLINICAL TRIAL REGISTRATION NUMBER: ISRCTN55685305.

The curious incident of groaning in the night-time.

The first report of catathrenia in a child who has been symptomatic from birth http://ow.ly/XcY830bevOH.

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome.

KEY POINTS: Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors.The prevalence of OSAHS in adults with Down syndrome is estimated at 35-42%. This is up to ten-times higher than in the general adult population.Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome.There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. EDUCATIONAL AIMS: To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS).To examine the prevalence of OSAHS in adults with Down syndrome.To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy.Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2-4% of the general adult population. The "double-hit" of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour. Symptoms of OSAHS should be routinely monitored in this population, with testing and treatment available to all adults with Down syndrome; however, this is not currently commonplace, and health inequalities are evident.