Multisystem approach for management of OSA in Down syndrome: a case report.

Obstructive sleep apnea (OSA) is common in children with Down syndrome, with reported prevalence rates as high as 69-76%. Multiple factors predispose children with Down syndrome for OSA, including craniofacial hypoplasia (maxillary and mandibular), airway abnormalities, macroglossia, generalized hypotonia, airway hypotonia, adenotonsillar hypertrophy, and obesity. Despite the fact that the pathophysiology for OSA in children with Down syndrome is multifactorial in nature, treatment methods have focused on soft tissue in the upper airway using adenotonsillectomy and/or continuous positive airway pressure therapy. Here we present a case of a patient with Down syndrome whose severe OSA was approached in a multisystem manner, including upper airway soft tissue, orthognathic, maxillofacial, and bariatric surgery, resulting in resolution of the OSA without reliance on a continuous positive airway pressure device. CITATION: Finch CE, Raol N, Roser SM, Leu RM. Multisystem approach for management of OSA in Down syndrome: a case report. J Clin Sleep Med. 2024;20(3):471-473.

Sleep disturbances in parental caregivers and patients with congenital central hypoventilation syndrome.

STUDY OBJECTIVES: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by impaired control of breathing caused by paired-like homeobox 2B (PHOX2B) gene variants, necessitating lifelong assisted ventilation (AV). This study aimed to assess sleep quality in patients with CCHS and their parents using sleep questionnaires. METHODS: Parents of patients with CCHS completed the Pittsburgh Sleep Quality Index (PSQI) regarding their sleep and the Sleep Disturbance Scale for Children (SDSC) regarding their child's sleep. RESULTS: Twenty participants completed the questionnaires. The median (interquartile range) ages of the parents and patients were 41.5 (38.5-51.5) and 11.5 (7.4-16.7) years, respectively. The median (interquartile range) PSQI and SDSC scores were elevated at 6.5 (4-10) and 41.5 (34-51.5), respectively, suggesting that parents and patients with CCHS can experience sleep disturbances and poor sleep quality. There were no significant differences in SDSC (P = 1.0) and PSQI (P = .76) scores for AV with or without tracheostomy. Similarly, there were no significant differences in SDSC (P = .22) and PSQI (P = .34) scores based on PHOX2B genotypes. There was a moderately strong, significant, and positive correlation between the CCHS SDSC scores and parental PSQI scores (r = .48, P = .03), suggesting that sleep disturbances in patients with CCHS were associated with poor parental sleep quality. There was no difference in the median parental sleep duration between those with and without nighttime home nursing (P = .09). CONCLUSIONS: Patients with CCHS and their parents are at risk for sleep disturbances regardless of their AV modality and PHOX2B genotype. In addition to AV management, patients with CCHS and their parents should be assessed for sleep disturbances. CITATION: Finch CE, Leu RM, Harford K-L, Westbrook AL, Kasi AS. Sleep disturbances in parental caregivers and patients with congenital central hypoventilation syndrome. J Clin Sleep Med. 2023;19(3):549-554.

A meta-analysis of diagnostic test performance of peripheral arterial tonometry studies.

STUDY OBJECTIVES: The objective of this meta-analysis was to analyze agreement in apnea-hypopnea index (AHI) determination between peripheral arterial tonometry (PAT) and polysomnography (PSG) studies. METHODS: Mean AHI bias and standard deviation extracted from Bland-Altman plots reported in studies were pooled in a meta-analysis, which was then used to calculate percentage errors of limit agreement in AHI determination by PAT using PSG AHI as the reference. Individual participant data (where reported in studies) were used to compute Cohen's kappa to assess agreement between PSG and PAT on sleep apnea severity and for computing the sensitivity and specificity of PAT at different AHI thresholds using PSG AHI as the reference. RESULTS: From 17 studies and 1,318 participants (all underwent simultaneous PSG and use of the WatchPAT device), a pooled mean AHI bias of 0.30 (standard error [SE], 0.74) and a WatchPAT AHI percentage error of 230% was calculated. The meta-analysis of Cohen's kappa for agreement between PSG and WatchPAT studies for classifying patients with no sleep apnea, mild, moderate, or severe sleep apnea severity was 0.45 (SE, 0.06), 0.29 (SE, 0.05), 0.25 (SE, 0.07), and 0.64 (SE, 0.05), respectively. At AHI thresholds of 5, 15 and 30 events/h, WatchPAT studies showed pooled sensitivities and specificities of 94.11% and 43.47%, 92.21% and 72.39%, and 74.11% and 87.10%, respectively. Likelihood ratios were not significant at any AHI threshold. CONCLUSIONS: The results of this meta-analysis suggest clinically significant discordance between WatchPAT and PSG measurements of AHI, significant sleep apnea severity misclassification by PAT studies, and poor diagnostic test performance. CITATION: Iftikhar IH, Finch CE, Shah AS, Augunstein CA, Ioachimescu OC. A meta-analysis of diagnostic test performance of peripheral arterial tonometry studies. J Clin Sleep Med. 2022;18(4):1093-1102.