PTEN hamartoma tumour syndrome (PHTS) comprises a group of genetic disorders with varied clinical presentations, including macrocephaly, developmental delay, and increased cancer susceptibility. Recent reports have highlighted the occurrence of tonsil-related issues in PHTS.

Clinical data focusing on tonsil-related pathology and tonsillectomy details (indications, histology and post-operative complications) were collected from 53 patients with PHTS.

Tonsil issues affected 58 per cent of the cohort, with 43 per cent requiring tonsillectomy. Primary indications for tonsillectomy included obstructive sleep apnoea (43 per cent), recurrent tonsillitis (17 per cent) and other causes (17 per cent). Tonsil-related problems were observed both before (45 per cent) and after (55 per cent) PHTS. Tonsillectomy with adenoidectomy was the predominant surgical intervention performed (87 per cent), spanning a broad age range (1–27 years old).

Our findings highlight the complex nature of PHTS and its association with tonsil-related pathology, demonstrating its relevance for ENT surgeons. Early recognition and intervention are pivotal for managing sleep apnoea and the associated health problems.

Obstructive sleep apnea (OSA) is associated with worse outcomes in stroke, Alzheimer’s disease (AD) and Parkinson’s disease (PD), but diagnosis is challenging in these groups. We aimed to compare the prevalence of high risk of OSA based on commonly used questionnaires and self-reported OSA diagnosis: 1. within groups with stroke, AD, PD and the general population (GP); 2. Between neurological groups and GP.

Individuals with stroke, PD and AD were identified in the Canadian Longitudinal Study of Aging (CLSA) by survey. STOP, STOP-BAG, STOP-B28 and GOAL screening tools and OSA self-report were compared by the Chi-squared test. Logistic regression was used to compare high risk/self-report of OSA, in neurological conditions vs. GP, adjusted for confounders.

We studied 30,097 participants with mean age of 62.3 years (SD 10.3) (stroke n = 1791; PD n = 175; AD n = 125). In all groups, a positive GOAL was the most prevalent, while positive STOP was least prevalent among questionnaires. Significant variations in high-risk OSA were observed between different questionnaires across all groups. Under 1.5% of individuals self-reported OSA. While all questionnaires suggested a higher prevalence of OSA in stroke than the GP, for PD and AD, there was heterogeneity depending on questionnaire.

The wide range of prevalences of high risk of OSA resulting from commonly used screening tools underscores the importance of validating them in older adults with neurological disorders. OSA was self-reported in disproportionately small numbers across groups, suggesting that OSA is underdiagnosed in older adults or underreported by patients, which is concerning given its increasingly recognized impact on brain health.

Obstructive sleep apnea (OSA) is a sleep disorder with no widely accepted pharmacological therapy. Cannabinoids have been suggested to reduce OSA severity in small human studies. The purpose of this retrospective cohort study was to explore the association of self-reported cannabis use on OSA severity and sleep parameters in a large cohort of adults undergoing in-laboratory polysomnography.

Sleep and medication data were collected for all consecutive adults who completed diagnostic polysomnography at Sunnybrook Health Sciences Centre from 2010 to 2022. Multivariable linear regression models were employed that adjusted for age, sex, and BMI (minimally adjusted model), as well as medication and comorbidity data (maximally adjusted model). An exploratory subgroup analysis was additionally run in patients with moderate to severe OSA.

Of 6,958 individuals (mean age 54.7 ± 16.3, BMI 29.1 ± 6.8, 51.0% female), 71 reported cannabis use. In our minimally adjusted models, cannabis use predicted a reduced respiratory disturbance index (RDI) (β: −4.8 [95% CI: −9.4, −0.2]; p = 0.042); this association became nonsignificant in the fully adjusted models. In an exploratory analysis of patients with moderate to severe OSA (n = 613), cannabis use (n = 7) predicted increased stage N3 sleep (β: 33.5 [95% CI: 15.6, 51.4]; p < 0.001) and decreased REM sleep (β: 16.0 [95% CI: 0.3, 31.7]; p = 0.046).

Self-reported cannabis use was not associated with OSA severity after adjusting for confounders. In an exploratory subgroup analysis of patients with moderate to severe OSA, cannabis use impacted sleep architecture. Future studies should further explore these findings.

To assess the role of laryngo-tracheo-bronchoscopy in children with obstructive sleep apnoea by identifying airway abnormalities at surgery, that occur separately or in addition to adenotonsillar hypertrophy, and examining the correlation with respiratory parameters.

A retrospective study was conducted of children with obstructive sleep apnoea who underwent laryngo-tracheo-bronchoscopy intra-operatively, performed by a single ENT surgeon from February 2016 to July 2019. Pre- and post-operative minimum oxygen saturation, apnoea-hypopnoea index, and oxygen desaturation index were recorded.

Sixty-five children were identified; 34 were aged less than three years and 31 were aged three years or more. 77 per cent and 13 per cent respectively had an airway abnormality; the t-test showed a significantly higher mean oxygen desaturation index and lower mean minimum oxygen saturation pre-operatively compared to children without an airway abnormality.

An update of the surgical pathway for children aged less than three years with obstructive sleep apnoea is required to include laryngo-tracheo-bronchoscopy intra-operatively. A t-test analysis of the pre-operative respiratory parameters suggests that airway abnormalities contribute to obstructive sleep apnoea severity.

To compare supraglottoplasty versus non-surgical treatment in children with laryngomalacia and mild, moderate and severe obstructive sleep apnoea.

Patients were classified based on their obstructive apnoea hypopnoea index on initial polysomnogram, which was compared to their post-treatment polysomnogram.

Eighteen patients underwent supraglottoplasty, and 12 patients had non-surgical treatment. The average obstructive apnoea hypopnoea index after supraglottoplasty fell by 12.68 events per hour (p = 0.0039) in the supraglottoplasty group and 3.3 events per hour (p = 0.3) in the non-surgical treatment group. Comparison of the change in obstructive apnoea hypopnoea index in the surgical versus non-surgical groups did not meet statistical significance (p = 0.09).

All patients with laryngomalacia and obstructive sleep apnoea had a statistically significant improvement in obstructive apnoea hypopnoea index after supraglottoplasty irrespective of obstructive sleep apnoea severity, whereas patients who received non-surgical treatment had more variable and unpredictable results. Direct comparison of the change between the two groups did not find supraglottoplasty to be superior to non-surgical treatment. Larger prospective studies are recommended.

To evaluate the effect of surgical intervention on serum insulin-like growth factor 1 levels in patients with obstructive sleep apnoea.

A prospective study was conducted in a tertiary care hospital of adult patients with obstructive sleep apnoea for whom continuous positive airway pressure therapy failed or was refused. All patients underwent polysomnography and serum insulin-like growth factor 1 evaluation pre-operatively and at three months post-operatively. The site of surgery was determined using Müller's manoeuvre and ApneaGraph AG 200.

Fifteen patients were included with a mean age of 38 years: 11 males and 4 females. The mean pre-operative Apnoea–Hypopnoea Index using polysomnography was 53.7 events per hour, and the mean post-operative Apnoea–Hypopnoea Index at three months was 15.3 events per hour (p = 0.0001). The mean pre-operative serum insulin-like growth factor 1 was 160.2 μg/l, while the mean post-operative value was 236.98 μg/l (p = 0.005).

In adult patients with obstructive sleep apnoea for whom continuous positive airway pressure therapy fails, site-specific surgical intervention to treat the obstruction leads to an increase in serum insulin-like growth factor 1 levels.

We investigated the change in limbic structure volumes and intrinsic limbic network in patients with obstructive sleep apnea (OSA) compared to healthy controls.

We enrolled 26 patients with OSA and 30 healthy controls. They underwent three-dimensional T1-weighted magnetic resonance imaging (MRI) on a 3 T MRI scanner. The limbic structures were analyzed volumetrically using the FreeSurfer program. We examined the intrinsic limbic network using the Brain Analysis with Graph Theory program and compared the groups' limbic structure volumes and intrinsic limbic network.

There were significant differences in specific limbic structure volumes between the groups. The volumes in the right amygdala, right hippocampus, right hypothalamus, right nucleus accumbens, left amygdala, left basal forebrain, left hippocampus, left hypothalamus, and left nucleus accumbens in patients with OSA were lower than those in healthy controls (right amygdala, 0.102 vs. 0.113%, p = 0.004; right hippocampus, 0.253 vs. 0.281%, p = 0.002; right hypothalamus, 0.028 vs. 0.032%, p = 0.002; right nucleus accumbens, 0.021 vs. 0.024%, p = 0.019; left amygdala, 0.089 vs. 0.098%, p = 0.007; left basal forebrain, 0.020 vs. 0.022%, p = 0.027; left hippocampus, 0.245 vs. 0.265%, p = 0.021; left hypothalamus, 0.028 vs. 0.031%, p = 0.016; left nucleus accumbens, 0.023 vs. 0.027%, p = 0.002). However, there were no significant differences in network measures between the groups.

We demonstrate that the volumes of several limbic structures in patients with OSA are significantly lower than those in healthy controls. However, there are no alterations to the intrinsic limbic network. These findings suggest that OSA is one of the risk factors for cognitive impairments.

Tonsillectomy is one of the commonest operations in children. Routinely collected national data were used to assess variations in the paediatric tonsillectomy rate across Scotland, and to determine if socio-economic deprivation is the cause.

The Scottish Morbidity Records were reviewed for all children (0–16 years) undergoing tonsillectomy from 2001 to 2018.

The mean annual tonsillectomy rate was 2.64 per 1000 children. Rates in each health board area varied from 1.24 to 3.9 per 1000. Half of this variation resulted from transfers between regions. There was a 1.75-fold difference between tonsillectomy rates in the most and least deprived population quintiles, but this did not account for the geographical variation.

Half the variance in paediatric tonsillectomy rates is associated with children being transferred between regions for treatment. After accounting for this, there is a 1.5-fold difference in rate between health board areas, which is not related to socio-economic deprivation and is currently unexplained.

Serious device-related complications for hypoglossal nerve stimulators are rare, but surgeons should implement a prompt and systematic approach to quickly troubleshoot a non-functioning device.

Records were queried at a single academic tertiary referral centre between January 2019 and June 2021.

The authors present four cases of non-functioning hypoglossal nerve stimulator devices: one case in which migration of the stimulation lead required a revision implantation, one in which the implantable pulse generator was found to be non-functional intra-operatively, one case of an intramuscular sensory lead tract causing pain and one case of implantable pulse generator failure that was probably triggered by implantable cardiac device discharge. In this study, computed tomography imaging was critical to the diagnosis for the first and third cases.

Given the limited complication reporting available for hypoglossal nerve stimulators, these cases highlight management and unique imaging findings. The authors present an algorithm to work-up non-functioning hypoglossal nerve stimulator devices.

More young children are undergoing tonsillectomy, driven by sleep-disordered breathing concerns. Their specific risks are not well described.

A retrospective review was conducted of children aged 1–23 months undergoing tonsillectomy at one institution between 2014 and 2018.

A total of 157 children were identified (3.9 per cent of all tonsillectomies in those aged 0–16 years). Sixty-seven per cent were male. The youngest child was six months old; the smallest weighed 6.9 kg. Sixty-eight (43.3 per cent) had co-morbidities. The indication for tonsillectomy was sleep-disordered breathing in 94 per cent; 29.9 per cent had co-existing airway lesions, mostly laryngomalacia and tracheobronchomalacia. Of the children, 83.4 per cent were managed post-operatively on the surgical ward, and 63.7 per cent stayed 1 night. Emergency paediatric intensive care unit admission occurred in 3.8 per cent. Early respiratory complications and emergency paediatric intensive care unit admission were more common if the patient was medically complex, aged less than 18 months or weighed less than 12 kg. Re-operation for bleeding occurred in 1.9 per cent.

Most children stay 1 night on a general ward, with an uneventful course. Complications are occasionally severe, mostly in the very young and medically complex.

Behavioural modification through increasing nutritional awareness, along with customised dietary changes and education about physical inactivity, for obese snorers and mildly sleep apnoeic patients would help improve their quality of life.

A one-year prospective interventional study enrolled snorers and/or mild obstructive sleep apnoea sufferers, with 36 patients each in the test group and control group. Nutritional information and tailor-made diet charts were given to the 36 test subjects. The severity of snoring and daytime sleepiness after 6 and 12 months was compared using the Epworth Sleepiness Scale and Thornton Snoring Scale as measures of quality of life.

Subjective scores on both scales showed highly significant improvement (p ≤ 0.001) in the test group. No significant improvement was seen in the control group.

Awareness of basic nutrition and customised diet plans help to achieve behavioural modification in the long term, resulting in a better quality of life.

This study aimed to review the funding policies of clinical commissioning groups for treatment of obstructive sleep apnoea in England.

Published policies from a randomly selected sample of 60 out of 190 clinical commissioning groups were reviewed.

Continuous positive airway pressure was funded based on a clinical assessment or according to criteria that were in line with national guidelines in most clinical commissioning groups (49 of 60), with 11 clinical commissioning groups offering no policy. Mandibular advancement devices, tonsillectomy and nasal surgery were funded based on a clinical assessment or certain criteria in 16, 25 and 16 clinical commissioning groups, respectively. In contrast, only one clinical commissioning group provided funding for soft palate, tongue base or mandibular surgery. Hypoglossal nerve stimulation was not mentioned in any clinical commissioning group's policy.

Although most clinical commissioning groups provide funding for the use of continuous positive airway pressure, the availability of funding for other obstructive sleep apnoea treatment modalities is heterogeneous, leaving continuous positive airway pressure intolerant patients with limited therapeutic options in some regions.

To describe the utility of sleep nasendoscopy in determining the level of upper airway obstruction compared to microlaryngotracheobronchoscopy.

A retrospective observational study was conducted at a tertiary level paediatric hospital. Patients clinically diagnosed with upper airway obstruction warranting surgical intervention (i.e. with obstructive sleep apnoea or laryngomalacia) were included. These patients underwent sleep nasendoscopy in the anaesthetic room; microlaryngotracheobronchoscopy was subsequently performed and findings were compared.

Twenty-seven patients were included in the study. Sleep nasendoscopy was able to induce stridor or stertor, and to detect obstruction at the level of palate and pharynx, including tongue base collapse, that was not observed with microlaryngotracheobronchoscopy. Only 47 per cent of patients who had prolapse or indrawing of arytenoids on sleep nasendoscopy had similar findings on microlaryngotracheobronchoscopy. However, microlaryngotracheobronchoscopy was better in diagnosing shortened aryepiglottic folds.

This study demonstrates the utility of sleep nasendoscopy in determining the level and severity of obstruction by mimicking physiological sleep dynamics of the upper airway.

To evaluate the upper airway morphology changes associated with ageing in adult Chinese patients with obstructive sleep apnoea.

A total of 124 male patients diagnosed with obstructive sleep apnoea by overnight polysomnography, who underwent upper airway computed tomography, were enrolled. The linear dimensions, cross-sectional area and volume of the upper airway region and the surrounding bony frame were measured. The association between ageing and upper airway morphology was analysed.

Soft palate length, minimum cross-sectional area of the retroglossal region, lateral dimensions at the minimum cross-sectional area of the retropalatal and retroglossal regions, nasopharyngeal volume, and average cross-sectional area of the nasopharyngeal region were found to significantly increase with ageing in all patients, while the upper airway shape flattened with ageing. The volume of the retropalatal region increased with ageing among the patients with a body mass index of less than 24 kg/m2. The volume of parapharyngeal fat pad increased with ageing among patients with a body mass index greater than 28 kg/m2.

A number of dimensional, cross-sectional and volumetric parameters of the pharynx increased with age, indicating that non-anatomical factors may play a more important role in the pathogenesis of obstructive sleep apnoea in aged patients.

Defining the risk factors for Eustachian tube dysfunction can facilitate its prevention. It is hypothesised that Eustachian tube dysfunction as measured by the Eustachian Tube Dysfunction Questionnaire-7 is associated with obstructive sleep apnoea syndrome.

The questionnaire was systematically translated into Hebrew and validated in the accepted manner. This questionnaire was applied to obstructive sleep apnoea syndrome patients before and after expansion sphincter pharyngoplasty, in pre-set time intervals. The results were compared to those of controls from the general population.

Thirty-one patients (males:females = 19:12) were enrolled in the obstructive sleep apnoea syndrome group. Mean age was 43 years (range, 31–55 years) and mean body mass index was 28 kg/m2 (range, 27–30 kg/m2). Median apnoea-hypopnea index (pre-operatively) was 34 events per hour. The questionnaire scores in expansion sphincter pharyngoplasty candidates were significantly worse than in controls (p < 0.001). Expansion sphincter pharyngoplasty did not change Eustachian tube function in the long term, but was associated with additional self-limiting Eustachian tube dysfunction in the first two post-operative months.

Eustachian tube dysfunction is significantly worse in patients with obstructive sleep apnoea syndrome compared to controls. Expansion sphincter pharyngoplasty is not associated with Eustachian tube function improvement.