Establishing a telehealth model addressing paediatric sleep health in remote and rural Northern Territory Australia: Overcoming the distance barrier.

AIM: This study examined the outcomes of a telehealth model for sleep health assessment among Indigenous and non-Indigenous children residing in remote and regional communities at the Top End Northern Territory (NT) of Australia. METHODS: Video telehealth consultation, that included clinical history and relevant physical findings assessed virtually with an interstate paediatric sleep physician was conducted remotely. Polysomnography (PSG) and therapeutic interventions were carried out locally at Darwin, NT. The study participants were children referred between 2015 and 2020. RESULTS: Of the total 812 children referred for sleep assessment, 699 underwent a diagnostic PSG. The majority of patients were female (63%), non-Indigenous (81%) and resided in outer regional areas (88%). Indigenous children were significantly older and resided in remote or very remote locations (22% vs. 10%). Referral patterns differed according to locality and Indigenous status - (non-Indigenous via private (53%), Indigenous via public system (35%)). Receipt of referrals to initial consultation was a median of 16 days and 4 weeks from consult to PSG. Remote children had slightly longer time delay between the referral and initial consult (32 vs. 15 days). Fifty one percent were diagnosed to have OSA, 27% underwent adenotonsillectomy and 2% were prescribed with CPAP therapy. CONCLUSIONS: This study has demonstrated that a telehealth model can be an effective way in overcoming logistical barriers and in providing sleep health services to children in remote and regional Australia. Further innovative efforts are needed to improve the service model and expand the reach for vulnerable children in very remote communities.

Comparison of nocturnal pulse oximetry with polysomnography in children with sleep disordered breathing.

PURPOSE: Polysomnography (PSG) is the gold standard in the diagnosis of obstructive sleep apnea (OSA). However, due to high cost and limited availability, this is difficult to access and often delayed. To evaluate the reliability of overnight oximetry as a screening tool for OSA diagnosis. METHOD: All children suspected of OSA who underwent an overnight oximetry and subsequent PSG between January 2014 and April 2016 were studied retrospectively. The "McGill oximetry scoring" was compared with OSA diagnosis as per the American Association of Sleep Medicine. RESULTS: A total of 110 patients had both oximetry and PSG. Sixty-one children (56%) had normal oximetry, whereas 30 (27%) had McGill grade 2 and 19 (17%) had McGill 3 and 4. Sixty-four percent (64%) of children with normal oximetry had a normal PSG. Seventy percent (70%) of children with McGill 2 had either a normal or mild OSA on PSG. All the children with McGill 3 and 4 had moderate/severe OSA by PSG. The overall sensitivity and specificity of oximetry in identifying OSA were 63% and 78%, respectively, and the positive and negative predictive values (PPV and NPV) were 78% and 64%, respectively. The sensitivity and specificity of McGill 3 and 4 in diagnosing moderate/severe OSA on PSG were 59% and 100%, respectively, and the PPV and NPV were 100% and 78%, respectively. CONCLUSION: Overnight oximetry provides satisfactory diagnostic performance in detecting moderate and severe OSA; however, a normal or McGill 2 score does not rule out OSA and a PSG is required for diagnosis.

Pediatric Average Volume Assured Pressure Support.

Average volume assured pressure support (AVAPS) is a modality of non-invasive ventilation that enables the machine to deliver a pre-set tidal volume by adjusting the inspiratory pressure support within a set range. Data on its use in the pediatric population are limited to case reports and single centre case series. This article reviews paediatric data on use of AVAPS and highlights the need for validation to help develop specific guidelines on use of AVAPS in children.

Three generations of a family diagnosed with congenital central hypoventilation syndrome: A case series.

Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disorder characterized by alveolar hypoventilation and autonomic dysregulation secondary to mutations of the PHOX2B genes. We present five cases from three generations within the same family with varying degrees of phenotypic expression of the PHOX2B gene mutation. The cases were diagnosed following identification of CCHS in index case at birth. This case series underscores the importance of screening first-degree relatives of individuals with confirmed CCHS and alerts the clinicians to maintain a high degree of suspicion in asymptomatic family members given the high degree of phenotypic variability of CCHS.

Average volume-assured pressure support vs conventional bilevel pressure support in pediatric nocturnal hypoventilation: a case series.

STUDY OBJECTIVES: Average volume-assured pressure support (AVAPS) is a modality of noninvasive ventilation that provides a targeted tidal volume by automatically adjusting the inspiratory pressure support within a set range. Pediatric studies evaluating the efficacy of AVAPS in treating nocturnal hypoventilation are confined to case reports. The aim of this study was to compare AVAPS to conventional bilevel positive airway pressure (BPAP) support in improving hypercarbia in a cohort of pediatric patients with nocturnal hypoventilation. METHODS: Retrospective review of patient records at an established tertiary pediatric sleep laboratory over a 6-year period. Ventilatory and sleep study parameters from AVAPS and conventional BPAP titration studies were compared. AVAPS was used only if hypoventilation was not controlled using conventional BPAP. Inspiratory pressures, tidal volumes, and adherence were downloaded on final titrated ventilatory settings. Comparisons were made using paired t test. RESULTS: A total of 19 patients (11 boys, 8 girls; median age 10.5 years, range 1 to 20 years) were identified. Diagnoses included neuromuscular disease (n = 9), obstructive hypoventilation (n = 5), parenchymal lung disease (n = 4), and congenital central hypoventilation syndrome (n = 2). AVAPS demonstrated significant improvement in peak (P = .009) and mean (P = .001). Transcutaneous CO2 parameters compared to conventional bilevel. Oxygenation on AVAPS showed positive trend but did not reach statistical significance. AVAPS delivered higher tidal volumes (P = .04) using similar pressures. There was no statistically significant difference in obstructive apnea-hypopnea index, respiratory arousal index, sleep efficiency, and adherence between AVAPS and conventional BPAP. CONCLUSIONS: AVAPS was an effective alternative to conventional BPAP in improving hypercarbia in our selective cohort of pediatric patients. Prospective, longitudinal studies are needed to evaluate the benefits of AVAPS feature in the pediatric population.

Rapidly evolving narcolepsy-like syndrome coinciding with severe OSA following pharyngoplasty in Prader-Willi syndrome.

Our patient with Prader-Willi syndrome (PWS) not only displayed many typical syndromic features but also presented several unique challenges, with gross velopharyngeal insufficiency necessitating repair and severe obstructive sleep apnea developing thereafter, requiring ongoing non-invasive ventilation. This coincided with development of a narcolepsy-like syndrome, treated with dexamphetamine. Cataplexy, hypnogogic/hypnopompic hallucinations, sleep paralysis were absent and HLA-DQB1*06:02 was negative. Growth hormone (GH) therapy was commenced at 8 months of age and, as recommended, regular polysomnograms were conducted. Adenotonsillar growth on GH therapy is reported as well as several reports of sudden death in PWS patients on GH. Despite GH, lifestyle measures with regular dietician review, and an exercise program, there was progressive excessive weight gain. Our patient also developed moderate tonsil hypertrophy. To our knowledge, this is the first case report of severe obstructive sleep apnea secondary to sphincter pharyngoplasty coinciding with rapidly evolving narcolepsy-like syndrome.