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      Disorders of Sleep and Ventilatory Control in Prader-Willi Syndrome

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          Abstract

          Prader-Willi syndrome (PWS) is an imprinted genetic disorder conferred by loss of paternal gene expression from chromosome 15q11.2-q13. Individuals with PWS have impairments in ventilatory control and are predisposed toward sleep disordered breathing due to a combination of characteristic craniofacial features, obesity, hypotonia, and hypothalamic dysfunction. Children with PWS progress from failure to thrive during infancy to hyperphagia and morbid obesity during later childhood and onward. Similarly, the phenotype of sleep disordered breathing in PWS patients also evolves over time from predominantly central sleep apnea in infants to obstructive sleep apnea (OSA) in older children. Behavioral difficulties are common and may make establishing effective therapy with continuous positive airway pressure (CPAP) more challenging when OSA persists after adenotonsillectomy. Excessive daytime sleepiness (EDS) is also common in patients with PWS and may continue after OSA is effectively treated. We describe here the characteristic ventilatory control deficits, sleep disordered breathing, and excessive daytime sleepiness seen in individuals with PWS. We review respiratory issues that may contribute to sudden death events in PWS patients during sleep and wakefulness. We also discuss therapeutic options for treating sleep disordered breathing including adenotonsillectomy, weight loss, and CPAP. Lastly, we discuss the benefits and safety considerations related to growth hormone therapy.

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          Most cited references81

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          Overweight, obesity, and incident asthma: a meta-analysis of prospective epidemiologic studies.

          Although obesity has been implicated as an asthma risk factor, there is heterogeneity in the published literature regarding its role in asthma incidence, particularly in men. To quantify the relationship between categories of body mass index (BMI) and incident asthma in adults and to evaluate the impact of sex on this relationship. Online bibliographic databases were searched for prospective studies evaluating BMI and incident asthma in adults. Independent observers extracted data regarding annualized asthma incidence from studies meeting predetermined criteria, within defined categories of normal weight (BMI or= 30). Data were analyzed by inverse-variance-weighted, random-effects meta-analysis. Stratified analysis between BMI categories and within sex was performed. Seven studies (n=333,102 subjects) met inclusion criteria. Compared with normal weight, overweight and obesity (BMI >or= 25) conferred increased odds of incident asthma, with an odds ratio (OR) of 1.51 (95% confidence interval [CI], 1.27-1.80). A dose-response effect of elevated BMI on asthma incidence was observed; the OR for incident asthma for normal-weight versus overweight subjects was 1.38 (95% CI, 1.17-1.62) and was further elevated for normal weight versus obesity (OR, 1.92; 95% CI, 1.43-2.59; p<0.0001 for the trend). A similar increase in the OR of incident asthma due to overweight and obesity was observed in men (OR, 1.46; 95% CI, 1.05-2.02) and women (OR, 1.68; 95% CI, 1.45-1.94; p=0.232 for the comparison). Overweight and obesity are associated with a dose-dependent increase in the odds of incident asthma in men and women, suggesting asthma incidence could be reduced by interventions targeting overweight and obesity.
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            Hypocretin (orexin) deficiency in human narcolepsy.

            Alterations in the hypocretin receptor 2 and preprohypocretin genes produce narcolepsy in animal models. Hypocretin was undetectable in seven out of nine people with narcolepsy, indicating abnormal hypocretin transmission.
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              Epidemiology of pediatric obstructive sleep apnea.

              Pediatric obstructive sleep apnea (OSA) has become widely recognized only in the last few decades as a likely cause of significant morbidity among children. Many of the clinical characteristics of pediatric OSA, and the determinants of its epidemiology, differ from those of adult OSA. We systematically reviewed studies on the epidemiology of conditions considered part of a pediatric sleep-disordered breathing (SDB) continuum, ranging from primary snoring to OSA. We highlight a number of methodologic challenges, including widely variable methodologies for collection of questionnaire data about symptomatology, definitions of habitual snoring, criteria for advancing to further diagnostic testing, and objective diagnostic criteria for SDB or OSA. In the face of these limitations, estimated population prevalences are as follows: parent-reported "always" snoring, 1.5 to 6%; parent-reported apneic events during sleep, 0.2 to 4%; SDB by varying constellations of parent-reported symptoms on questionnaire, 4 to 11%; OSA diagnosed by varying criteria on diagnostic studies, 1 to 4%. Overall prevalence of parent-reported snoring by any definition in meta-analysis was 7.45% (95% confidence interval, 5.75-9.61). A reasonable preponderance of evidence now suggests that SDB is more common among boys than girls, and among children who are heavier than others, with emerging data to suggest a higher prevalence among African Americans. Less convincing data exist to prove differences in prevalence based on age. We conclude by outlining specific future research needs in the epidemiology of pediatric SDB.
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                Author and article information

                Contributors
                Role: Academic Editor
                Journal
                Diseases
                Diseases
                diseases
                Diseases
                MDPI
                2079-9721
                08 July 2016
                September 2016
                : 4
                : 3
                : 23
                Affiliations
                Division of Pediatric Pulmonology and Sleep Medicine, Children’s Hospital Los Angeles, 4650 Sunset Blvd, Mailstop #83, Los Angeles, CA 90027, USA; iaperez@ 123456chla.usc.edu
                Author notes
                [* ]Correspondence: egillett@ 123456chla.usc.edu ; Tel.: +1-323-361-2101
                Article
                diseases-04-00023
                10.3390/diseases4030023
                5456282
                28933403
                d559df8a-f9ab-4e3d-9d58-05a10e1f9e2d
                © 2016 by the authors.

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                : 03 May 2016
                : 04 July 2016
                Categories
                Review

                prader-willi syndrome,obstructive sleep apnea,sleep disorders,ventilatory control,obesity,growth hormone,adenotonsillectomy,non-invasive ventilation,bariatric surgery,hypocretin

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