Prader–Willi syndrome

Cassidy, Suzanne B.; Driscoll, Daniel J.

doi:10.1038/ejhg.2008.165

Cited by 555 publications

(506 citation statements)

References 69 publications

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“…Infants with PWS demonstrate dramatically reduced nursing and crying, with high rates of hypotonia and hypersomnolence (Cassidy & Driscoll, 2008;Holm et al, 1993;Peters, 2014), supporting this prediction. Here, we ask if comparable effects are present in a domain not previously tested in PWS but potentially relevant to parental investment: music.…”

Section: Genomic Imprinting Is Implicated In the Psychology Of Musicsupporting

confidence: 60%

Genomic Imprinting Is Implicated in the Psychology of Music

et al. 2017

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Why do we sing to babies? Human infants are relatively altricial and need their parents' attention to survive. Infant-directed song may constitute a signal of that attention. In the rare genomic imprinting disorder Prader-Willi syndrome (PWS), typically paternally-expressed genes from chromosome 15q11-q13 are unexpressed, resulting in exaggeration of traits that reduce offspring investment demands on the mother. PWS may thus be associated with a distinctive musical phenotype. We report unusual responses to music in PWS. Subjects (N = 39) moved more during music listening, exhibited greater reductions in heart rate in response to music listening, and displayed a specific deficit in pitch discrimination ability relative to typicallydeveloping adults and children (N = 589). Paternally-expressed genes from 15q11-q13, unexpressed in PWS, may thus increase demands for music and enhance perceptual sensitivity to music. These results implicate genomic imprinting in the psychology of music, informing theories of music's evolutionary history.

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Section: Genomic Imprinting Is Implicated In the Psychology Of Musicsupporting

confidence: 60%

Genomic Imprinting Is Implicated in the Psychology of Music

et al. 2017

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“…Published data on thyroid and adrenal function are limited. In most reports, thyroid and adrenal function are reported to be normal, although secondary hypothyroidism has been described [2,10,23,25,26,27,28]. Remarkably, in a recent study central adrenal insufficiency was demonstrated in 60% of the PWS children [29].…”

Section: Introductionmentioning

confidence: 99%

The GH/IGF-I Axis and Pituitary Function and Size in Adults with Prader-Willi Syndrome

et al. 2011

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Background: In adults with Prader-Willi syndrome (PWS), limited information is available about pituitary function, more specifically the prevalence of growth hormone deficiency (GHD). The aim of this study was to gain more insight into endocrine function in PWS adults, with emphasis on GH secretion. Methods: 15 randomly selected adult PWS individuals were included and 14 healthy brothers and sisters served as a control group. Main outcome measures were IGF-I, IGFBP-3 and peak GH level after a combined GHRH-arginine test. Other pituitary hormone deficits are diagnosed based on serum levels of the concerning hormones. The size of the pituitary gland was measured on MRI images. Results: In PWS adults, IGF-I levels were low and IGFBP-3 levels normal when compared to healthy controls. GHD was diagnosed in 8–38% of the PWS patients, depending on the criteria used. Hypogonadism was present in 87% of the patients. Hypothyroidism and adrenal insufficiency could also be demonstrated. Anterior pituitary size was lower in PWS individuals when compared to healthy controls. Conclusion: In this study, pituitary hormone deficiencies are demonstrated in a considerable number of adults with PWS, hypogonadism and GHD being most prominent. Furthermore, the anterior pituitary is smaller in comparison with healthy controls.

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“…The inclusion of this 4th group would have clearly distinguished whether the differences seen in these youngsters with PWS might be related to GHRT or perhaps to other management factors such as diet or physical activity [5,12]. Nonetheless, this study shows novel data in children with PWS having lower BMC and BMD in the hips compared to obese counterparts but similar to lean controls.…”

Section: Discussionmentioning

confidence: 62%

“…Overall, individuals with PWS present a low lean mass and a relatively high body fat content [5]. Adults with PWS not on GH (especially males) display high fat mass in the legs [6].…”

Section: Introductionmentioning

confidence: 99%

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Update on Body Composition and Bone Density in Children with Prader-Willi Syndrome

et al. 2013

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Aim: To compare body composition in children with Prader-Willi syndrome (PWS) not naïve to growth hormone (GH) with obese and lean controls. Methods: Participants included 12 children with PWS, 12 children with obesity (body fat percentage >95th percentile for age and sex) and 12 lean children (body fat percentage <85th percentile for age and sex) matched by age and height. Fat mass, lean mass, bone mineral content (BMC), bone mineral density (BMD) and BMD z-score for total body, hips and lumbar spine were obtained through dual X-ray absorptiometry. Results: PWS had higher fat percentage in the legs (p = 0.04) but similar leg fat mass (p = 1.00) compared to obese. PWS exhibited lower lean mass in the body (p = 0.04) and legs (p = 0.02) than obese, but similar to lean (p = 1.00 and p = 0.89, respectively). PWS had lower hip BMC (p < 0.01), BMD (p < 0.01) and BMD z-score (p < 0.01) compared to obese but similar to lean. No other differences were found between PWS and obese (p > 0.05 for all). Conclusions: Children with PWS not naïve to GH present differences in fat and lean mass distribution compared to obese controls. BMC and BMD appear unaffected by PWS, except at the hips.

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Prader–Willi syndrome

Cited by 555 publications

References 69 publications

Genomic Imprinting Is Implicated in the Psychology of Music

Genomic Imprinting Is Implicated in the Psychology of Music

The GH/IGF-I Axis and Pituitary Function and Size in Adults with Prader-Willi Syndrome

Update on Body Composition and Bone Density in Children with Prader-Willi Syndrome

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