Sleep-Disordered Breathing in Children with Prader-Willi Syndrome in Relation to Growth Hormone Therapy Onset

Zimmermann, Maja; Laemmer, Constanze; Woelfle, Joachim; Fimmers, Rolf; Gohlke, Bettina

doi:10.1159/000506943

Cited by 23 publications

(24 citation statements)

References 33 publications

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“…Two studies investigated the effect of GH treatment on SRBDs in young adults; in both studies, 1 year of GH treatment improved AHI (29,30). Another study showed that OSA in children with PWS developed independently of GH treatment onset during or after the first year of life (31). The authors concluded that GH treatment may safely be initiated early in life, but should be accompanied by regular sleep analysis.…”

Section: Discussionmentioning

confidence: 99%

Effects of growth hormone treatment on sleep-related parameters in adults with Prader-Willi syndrome

HH¹,

Hussain-Alkhateeb²,

Farholt³

et al. 2022

ESPE

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Context: Prader-Willi syndrome (PWS) is a rare, genetic, multisymptom, neurodevelopmental disease due to lack of the expression of the paternal genes in the q11 to q13 region of chromosome 15. The main characteristics of PWS are muscular hypotonia, hyperphagia, obesity, behavioral problems, cognitive disabilities, and endocrine deficiencies, including growth hormone (GH) deficiency. Sleep apnea and abnormal sleep patterns are common in PWS. GH treatment might theoretically have a negative impact on respiration.Objective: Here we present the effect of GH treatment on polysomnographic measurements. Methods: Thirty-seven adults, 15 men and 22 women, with confirmed PWS were randomly assigned to 1 year of GH treatment (n = 19) or placebo (n = 18) followed by 2 years of GH treatment to all. Polysomnographic measurements were performed every

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Section: Discussionmentioning

confidence: 99%

Effects of growth hormone treatment on sleep-related parameters in adults with Prader-Willi syndrome

HH¹,

Hussain-Alkhateeb²,

Farholt³

et al. 2022

ESPE

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“…It is safe to use in both adults and children with PWS. [15][16][17] While GH has been shown to provide cardiovascular benefits to adult patients with PWS, this is mostly related to body composition, lipid profile, sleep-breathing disorders, and pulmonary function. 18 Marzullo et al conducted several studies involving GH's structural effects in adults with PWS.…”

Section: Treatment Considerationsmentioning

confidence: 99%

Novel Case of Prader–Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management

et al. 2022

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We present a patient with a complex phenotype including diagnoses of Ebstein's anomaly and Prader–Willi syndrome (PWS) as well as additional congenital anomalies and genetic variants with potential clinical effects. This is the first reported case of both diagnoses present in the same patient. The diagnosis of Ebstein's anomaly was made on prenatal ultrasound. She presented with neonatal hypotonia, feeding problems, and dysmorphic features, followed by later onset weight gain, leading to a diagnosis of PWS. Further evaluations revealed Blaschkoid hyperpigmentation, laryngeal cleft, and pigmentary retinopathy. Whole exome sequencing determined a likely pathogenic variant in alkaline phosphatase gene and several mitochondrial DNA variants. We discuss the known genetic mechanisms of PWS and compare them to the heterogenous genetic associations of Ebstein's anomaly. The standard of care treatment for PWS is growth hormone therapy, which is associated with right-sided heart failure risks. This case illustrates the need to complete the diagnostic work up in all patients, as well as the necessity of a multidisciplinary approach for optimal outcomes.

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“…A few studies have reported initial worsening of OSA in a some children as early as 6 weeks into therapy. [22,25] However, many of the children who had developed OSA were seen to have an upper or lower respiratory tract infection at the time of performing the PSG. A case report in 2011 described the close association of the development of OSA and rGH therapy in a young girl who developed OSA each time rGH therapy was initiated and had complete resolution of OSA both times when the therapy was withdrawn.…”

Section: Q5 What Are the Treatment Options In Children With Pws And Sdb?mentioning

confidence: 99%

Screening Sleep Abnormalities in Children with Prader–Willi Syndrome: Challenges in the Indian Scenario

Parikh

Olety²

2021

JPED

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There is a high prevalence of sleep-related breathing disorders in the form of obstructive and central sleep apnea as well as spontaneous oxygen desaturation in children with Prader–Willi syndrome (PWS). Most cases are asymptomatic and if untreated go on to develop unfavorable neurodevelopmental, cardiovascular, and cerebrovascular outcomes. Hence, sleep study or polysomnography (PSG) is recommended in all children at the time of diagnosis as well as with the development of certain risk factors including symptoms of sleep apnea, before and after initiation of recombinant growth hormone (rGH) therapy. The use of rGH in children with PWS has been shown to improve central sleep apnea but also shown to be associated with worsening of OSA. PSG is ideally performed in a sleep laboratory. Various types of PSG devices are available depending on the biological parameters that are desired to be monitored. Sleep disorders in children are distinct from those seen in adults and have different diagnostic scoring criteria necessitating a trained pediatric sleep specialist to analyze the PSG recording. Through the clinical case vignette of a 14-year-old girl with PWS, severe obesity, and sleep disordered breathing, this review aims to highlight the need, timing, types, analysis, and interpretation of sleep studies in infants and older children with PWS, particularly in relation to rGH therapy. There is a paucity of literature on sleep studies in children with PWS in the local setting. Thus this review also suggests the need for adapting the existing Western guidelines for PSG in Indian children with PWS.

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Sleep-Disordered Breathing in Children with Prader-Willi Syndrome in Relation to Growth Hormone Therapy Onset

Cited by 23 publications

References 33 publications

Effects of growth hormone treatment on sleep-related parameters in adults with Prader-Willi syndrome

Effects of growth hormone treatment on sleep-related parameters in adults with Prader-Willi syndrome

Novel Case of Prader–Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management

Screening Sleep Abnormalities in Children with Prader–Willi Syndrome: Challenges in the Indian Scenario

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