Medical Considerations in Prader-Willi Syndrome

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome

“…However, given that all males had normal levels of testosterone, and a pattern of hypogonadotrophic hypogonadism is not otherwise observed, this finding may be more related to prenatal hypotonia than to hypogonadotrophic hypogonadism. Because fetal abdominal movements sporadically increase intra-abdominal pressure which promotes testicular descent, a lack of fetal movement due to prenatal hypotonia in SYS would inhibit this process 37. Further investigations will be needed to assess gonadal function in individuals with SYS over time.…”

The impact ofPrader–Willi syndrome on the family's quality of life and caregiving, and the unaffected siblings’ psychosocial adjustment

“…The multiple physical, developmental and behavioural issues of PWS require families to devote considerable time and effort to the care of affected individuals. Management of these manifestations is symptomatic and supportive, and has been discussed in several recent reviews (Eiholzer & Lee ; Goldstone et al . ; Cassidy & Driscoll ; Cassidy & McCandless ; Cataletto et al .…”

“…The multiple physical, developmental and behavioural issues of PWS require families to devote considerable time and effort to the care of affected individuals. Management of these manifestations is symptomatic and supportive, and has been discussed in several recent reviews (Eiholzer & Lee 2006;Goldstone et al 2008;Cassidy & Driscoll 2009;Cassidy & McCandless 2010;Cataletto et al 2011;McCandless 2011). The intellectual disability is distinctive, including specific strengths (especially visual-spatial and long-term memory) and weaknesses (most commonly sequential and abstract thinking, short-term memory) that require an individualised approach (Curfs & Fryns 1992;Dykens et al 1992;Roof et al 2000;Whittington et al 2004;Copet et al 2010).…”

Analysis of Endothelial Protein C Receptor Gene and Metabolic Profile in Prader‐Willi Syndrome and Obese Subjects

“…All these findings are potentially associated with coronary artery disease and thus early sudden death. To date, however, only few cases of coronary artery and atherosclerotic heart diseases have been reported in PWS subjects (24,25,26), but this circumstance may be simply related to the early mortality of PWS, since ischemic heart disease is generally observed after the middle age. In addition, both superficial and deep venous thrombosis are frequently observed in PWS, particularly in patients who have stopped to walk for any reason (27).…”