Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study

Pavone, Martino; Caldarelli, Valeria; Khirani, Sonia; Colella, Marina Pereira; Ramirez, Adriana; Aubertin, Guillaume; Crinò, Antonino; Brioude, Frédéric; Gastaud, Frédérique; Beydon, Nicole; Boulé, Michèle; Giovannini‐Chami, Lisa; Cutrera, Renato; Fauroux, Brigitte

doi:10.1002/ppul.23177

Cited by 68 publications

(74 citation statements)

References 30 publications

(75 reference statements)

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“…Exome sequencing allows rapid analysis for gene variants associated with disease and is increasingly becoming the next step in the diagnostic evaluation of patients with undiagnosed disorders who have exhausted prior diagnostic steps (Rauch et al 2012). Previous studies, in which the exomes of cases with NDD/ID and their parents were analyzed together, have demonstrated an abundance of de novo mutations as key players (Deciphering Developmental Disorders Study 2015; Ku et al 2013; Rauch et al 2012; Vissers et al 2010).…”

Section: Introductionmentioning

confidence: 99%

“…Previous studies, in which the exomes of cases with NDD/ID and their parents were analyzed together, have demonstrated an abundance of de novo mutations as key players (Deciphering Developmental Disorders Study 2015; Ku et al 2013; Rauch et al 2012; Vissers et al 2010). De novo mutations were also shown to play important roles in specific nonsyndromic neurocognitive phenotypes including schizophrenia and autism (Iossifov et al 2014; McCarthy et al 2014; Ronemus et al 2014; Slager et al 2003; Xu et al 2012).…”

Section: Introductionmentioning

confidence: 99%

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Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

et al. 2017

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Smith–Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases. One candidate variant was located in an alpha helix of Necdin (NDN), phased to the paternally inherited allele. NDN is maternally imprinted within the 15q11.2 Prader–Willi Syndrome (PWS) region. This can help clarify NDN’s role in the PWS phenotype. No definitive pathogenic gene variants were detected in the remaining SMS-like cases, but we report our findings for future comparison. This study provides information about the inheritance pattern and recurrence risk for patients with identified variants and demonstrates clinical and genetic overlap of neurodevelopmental disorders. Identification and characterization of ID-related genes that assist in development of common developmental pathways and/or gene-networks, may inform disease mechanism and treatment strategies.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

et al. 2017

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“…Altered ventilatory control, obesity, airway hypotonia, micrognathia, narrowing of the upper airway, and respiratory muscle weakness all make individuals with PWS vulnerable to developing sleep disordered breathing [3,40]. It is not uncommon for children with PWS to sleep with an overextended neck to help to relieve upper airway obstruction [41], and both obese and non-obese subjects may exhibit severe OSA [10,42]. Hypothyroidism is a treatable condition that contributes to OSA in some patients.…”

Section: Sleep Disordered Breathingmentioning

confidence: 99%

“…For PWS patients with residual OSA persisting after airway surgery, treatment with continuous positive air pressure (CPAP) is recommended [10,74]. Weight loss may also be helpful.…”

Section: Sleep Disordered Breathingmentioning

confidence: 99%

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Disorders of Sleep and Ventilatory Control in Prader-Willi Syndrome

Gillett

Perez

2016

Diseases

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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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Pediatric Pulmonologyyear in review 2015: Part 2

Praud

2016

Pediatr Pulmonol.

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Pediatric Pulmonology covers a broad range of research and scholarly topics related to children's respiratory disorders. For updated perspectives on the rapidly expanding knowledge in our field, we will summarize the past year's publications in our major topic areas, as well as selected publications in these areas from the core clinical journal literature outside our own pages. The current review (Part 2) covers articles on sleep-disordered breathing. Pediatr Pulmonol. 2016;51:740-746. © 2016 Wiley Periodicals, Inc.

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Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study

Abstract: Patients with PWS exhibit a high prevalence of SDB. The lack of association between obesity and SDB leads to hypothesize that hypotonia and/or facial dysmorphic features may play a major role in the occurrence of SDB.

Cited by 68 publications

References 30 publications

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Disorders of Sleep and Ventilatory Control in Prader-Willi Syndrome

Pediatric Pulmonologyyear in review 2015: Part 2

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