Physical health problems in adults with Prader–Willi syndrome

Abstract

Prader-Willi syndrome (PWS) is a genetic disorder which is characterized by severe hypotonia and feeding problems in early infancy. In later childhood and adolescence, this is followed by hyperphagia and extreme obesity if the diet is not strictly controlled. Data on physical health problems in adults with PWS are scarce. We report on the prevalence of physical health problems in a Dutch cohort of adults with PWS in relation to age, BMI, and genetic subtype. Participants (n = 102) were retrieved via the Dutch Prader-Willi Parent Association and through physicians specializing in persons with intellectual disabilities (ID). Details regarding physical health problem spanning the participants' lifespan were collected from caretakers through semi-structured interviews. Cardiovascular problems included diabetes mellitus, hypertension, and cerebrovascular accidents. Respiratory infections were frequent in adulthood. In males, cryptorchidism was almost universal, for which 28/48 males had a history of surgery, mostly orchidopexy. None of the women had a regular menstrual cycle. Sixteen individuals had a diagnosis of osteoporosis. Spinal deformation, hip dysplasia, and foot abnormalities were common. Skinpicking, leg edema, and erysipelas were frequent dermatological problems. The findings in our group support the notion that the prevalence of physical health problems is underestimated. This underscores the importance of developing monitoring programs which would help to recognize physical health problems at an early stage.

Bone Mineral Density in Prader Willi Syndrome: A Search for Genetic Markers

“…Osteoporosis is a recognized clinical feature of PWS [18]. In our study, 70% had reduced BMD, 26% had severely reduced BMD (Z-score<2.5).…”

“…The mean age of the 58 patients younger than 18 was 9.9+3.9 years (3.5-18 years). The mean age of the 38 patients older than 18 were found to be significantly correlated to reduced BMD (p=0.002) ( Table 6a). The minor allele f (Ff and ff) was found to be a risk factor for osteopenia/osteoporosis in this cohort (Table 6b).…”

Issues in Adults Prader-Willi Syndrome

“…Healthcare providers for older adults with PWS should be aware that adult (and older) age onset medical conditions are common in this population 9) . Regular surveillance of health (e.g., following a checklist as proposed by Sinnema et al 10) is recommended in this population. Physicians should be alert for the presence of cardiovascular diseases, diabetes, dermatological, and orthopedic problems.…”

“…The association between PWS and dementia could of course be coincidental. Nevertheless, in order to achieve a better understanding of the prevalence of dementia in older people with PWS, more studies are necessary 10) . Weight loss in adulthood may be associated with improved physical health but not necessarily mental health.…”

Prader–Willi syndrome: genotype, cause, phenotype and management

“…However, Cassidy and Driscoll (2009) and the PWSA(UK) (2012) report that dramatic benefits can be achieved for people with PWS by appropriate care and management, in terms of the phenotype, health and self-image. The severity of the obesity can be managed by early diagnosis, diet restrictions, controlling access to food and tailored exercise programmes (Sinnema et al, 2011b). However, weight control by strictly restricting calorific intake may lead to physiological and psychological stress (Dykens et al, 2011;Grolla et al, 2011).…”