In contrast to even a decade ago, giant steps have been made toward increased community inclusion, choice, and self-determination for persons with mental retardation. As workers put these goals into practice, they are sometimes faced with uncomfortable exceptions to the rule: persons for whom increased decision-making leads to unhealthy and even life-threatening consequences. Prader-Willi syndr...

Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS). We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly ...

This is the first population based study to estimate the birth prevalence of DNA proven Prader-Willi syndrome. Thirty infants were reported to the Australian Paediatric Surveillance Unit between 1998 and 2000, a prevalence of 4 per 100,000 live births or approximately 1/25,000 live births per annum.

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

In a family in which the father carried a balanced translocation between chromosomes 15 and 22 two of his children had Prader-Willi syndrome and an unbalanced chromosome complement, having lost the proximal bands from the long arm of chromosome 15. His four other surviving children were normal but carried a balanced translocation.

Genomic rearrangements of chromosome 15q11-q13 cause diverse phenotypes including autism, Prader-Willi syndrome (PWS), and Angelman syndrome (AS). This region is subject to genomic imprinting and characterized by complex combinations of low copy repeat elements. Prader-Willi and Angelman syndrome are caused primarily by 15q11-13 deletions of paternal and maternal origin, respectively. Autism is...

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

Prader-Willi syndrome, induced by a function changes of paternal genes in the subcentrometric region of the chromosome 15 (q11.2q13), is the most common genetic cause of obesity resulting from hyperphagia. Behavioural disturbancies with compulsions in which psychiatric interventions are necessary, are relatively frequently seen. In this paper we reviewed the recent data of the clinical diagnosi...

Background/Aims FGF21 (fibroblast growth factor 21) is a novel metabolic regulator that has beneficial effects on glucose homeostasis and insulin sensitivity. In human obesity, serum FGF21 level was increased. The aims of this study were comparing fasting serum levels of FGF21 in Prader-Willi syndrome (PWS) and obese control children and finding correlations these levels with insulin sensitivit...