title: 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.
authors.affiliation: Department of Clinical Genetics, Maastricht UMC, Maastricht University, Maastricht, The Netherlands. margje.sinnema@mumc.nl
authors.forename: Margje
authors.initials: M
authors.lastname: Sinnema
authors.forename: Marian A
authors.initials: MA
authors.lastname: Maaskant
authors.forename: Henny M J
authors.initials: HM
authors.lastname: van Schrojenstein Lantman-de Valk
authors.forename: I Caroline
authors.initials: IC
authors.lastname: van Nieuwpoort
authors.forename: Madeleine L
authors.initials: ML
authors.lastname: Drent
authors.forename: Leopold M G
authors.initials: LM
authors.lastname: Curfs
authors.forename: Constance T R M
authors.initials: CT
authors.lastname: Schrander-Stumpel
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015992:Body Mass Index; D015331:Cohort Studies; D003456:Cryptorchidism / Q000150:complications; D048909:Diabetes Complications; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications; D006618:Hip Dislocation, Congenital / Q000150:complications; D006801:Humans; D006973:Hypertension / Q000150:complications; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008572:Menarche; D008875:Middle Aged; D009765:Obesity; D010024:Osteoporosis / Q000150:complications; D011218:Prader-Willi Syndrome / Q000235:genetics / Q000503:physiopathology; D012141:Respiratory Tract Infections / Q000150:complications; D012871:Skin Diseases / Q000150:complications; D013122:Spinal Diseases / Q000150:complications; D020521:Stroke / Q000150:complications