Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by hyperphagia and food preoccupations. Although dysfunction of the hypothalamus likely has a critical role in hyperphagia, it is only one of several regions involved in the regulation of eating. The purpose of this research was to examine food-related neural circuitry…

Individuals with Prader-Willi syndrome have hyperphagia, a characteristic eating disorder defined by a marked delay in the satiety response when compared to controls. This eating disorder has been particularly difficult to control. The authors taught and evaluated effectiveness of regular exercise alone, regular exercise plus healthy eating, and…

Specific genetic syndromes affect individuals' sexual development, experiences, and fertility. Individuals with specific syndromes can also display inappropriate sexual behavior resulting from vulnerabilities presented by their genetic makeup. Using clinical case studies, we discuss the specific impact that Down, Prader-Willi, and Williams…

Introduction: The present study reports cross-cultural comparisons of body mass index (BMI) and growth in Prader-Willi syndrome, a neurodevelopmental disorder associated with obesity, growth restriction and mild learning disability. Our objectives were to: (1) compare rates of obesity in adults with Prader-Willi syndrome (PWS) in France, with data…

Prader-Willi syndrome (PWS) is a genetic disorder which has widespread developmental consequences including motor, cognitive and language delay. Previous research on PWS children has focused primarily on phonological development and dysfluency. In the present study, the lexical development of a boy with PWS was investigated in a series of 18 play…

Being severely overweight is a distinctive clinical feature of Prader-Willi Syndrome (PWS). This explorative study aims to characterise balance capacity in PWS as compared to non-genetically obese patients (O) and to a group of normal-weight individuals (CG). We enrolled 14 PWS patients: 8 females and 6 males (BMI = 41.3 [plus or minus] 7.3…

Mathematical abilities were tested in people with Prader-Willi syndrome (PWS), using a series of basic mathematical tasks for which normative data are available. The difference between the deletion and the disomy variants of this condition was explored. While a wide phenotypic variation was found, some basic findings emerge clearly. As expected…

Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated…

Compulsive behavior in Prader-Willi syndrome is well-documented, though the neurochemical basis of these behaviors remains unknown. We studied a group of 16 people with Prader-Willi syndrome and a comparison group of 19 people with intellectual disability. Using eye-blink rate as an indirect measure of central nervous system dopamine, we found a…

This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults…

To examine the behavioral and emotional difficulties of 73 children and adolescents with Prader-Willi Syndrome (PWS), mental retardation-only, and dual diagnosis (i.e., mental retardation and psychiatrically disordered) on the Devereux Scales of Mental Disorders (DSMD: Naglieri, LeBuffe, & Pfeiffer, "Devereux Scales of Mental Disorders" (DSMD) San…

Background: In the UK those paid to support adults with intellectual disabilities must manage two potentially conflicting duties that are set out in policy documents as being vital to their role: protecting service users (their duty of care) and recognising service users' autonomy. This study focuses specifically on the support of people with the…

Background and Methods: Unusual water intake and drinking behaviour has occasionally been observed in individuals with Prader-Willi syndrome (PWS). The aim of this study is to explore whether this observation is a part of the PWS phenotype and what the consequences may be. The parents of 51 individuals with PWS (age range 2-40 years) were asked by…

Prader-Willi Syndrome, also called "the eating disease", is a low-incidence handicap which cannot be diagnosed in infancy. Most adults reported in the literature are institutionalized and profoundly retarded. A study of the diagnosis and intervention of two Prader-Willi Syndrome children is presented. (Author/JKS)

Background: Genetic disorders occasionally provide the means to uncover potential mechanisms linking gene expression and physical or cognitive characteristics or behaviour. Prader-Willi syndrome (PWS) is one such genetic disorder in which differences between the two main genetic subtypes have been documented (e.g. higher verbal IQ in one vs.…