Prader-Willi Syndrome: Clinical Aspects

Abstract

Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient's life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW) child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy.

Thermal dysregulation in Prader-Willi syndrome: a potentially fatal complication in adolescence, not just in infancy

“…PWS is an imprinting genetic disorder caused by loss of expression of paternal chromosome 15q 3. First described in 1956 by Prader et al , PWS is a complex multisystem disorder in which clinical manifestations reflect hypothalamic and autonomic nervous system dysfunction 3–5.…”

“…First described in 1956 by Prader et al , PWS is a complex multisystem disorder in which clinical manifestations reflect hypothalamic and autonomic nervous system dysfunction 3–5. Prevalence has been estimated between 1/15 000 and 1/25 000 live-births 3. While no structural hypothalamic defect has been found in PWS, DiMario and Burleson 5 have demonstrated that the primary disturbance in autonomic regulation exists primarily in parasympathetic function.…”

“…Typically, infants with PWS demonstrate marked axial hypotonia during the neonatal period, with signs of hypogonadism 3 6. These include genital hypoplasia and cryptorchidism.…”

Prader-Willi syndrome and hyperphagia: an update

“…The overeating behaviour seen in patients with PWS was once thought to be related to a "lack of will power". However it is now considered to be related to an abnormal satiety response and increased motivation for food (Elena et al, 2012;Yearwood et al, 2011). To date there are two relevant reviews identifying studies and offering opinion to the possible underlying mechanisms involved in patients with PWS and hyperphagia .…”

Endocrine management of children with Prader–Willi syndrome

“…39 Based on initial results, serum levels of luteinizing hormone, FSH, and gonadal steroids (estradiol or testosterone) should be obtained after gonadotropin-releasing hormone stimulation. For induction of puberty in boys, monthly intramuscular injection of testosterone is used, with a gradual increase to adult doses at the end of puberty.…”