Physical health problems in adults with Prader-Willi syndrome

• Published in: American journal of medical genetics. Part A 2011-09, Vol.155A (9), p.2112-2124
• Main Authors: Sinnema, Margje, Maaskant, Marian A., van Schrojenstein Lantman-de Valk, Henny M.J., Caroline van Nieuwpoort, I., Drent, Madeleine L., Curfs, Leopold M.G., Schrander-Stumpel, Constance T.R.M.
• Format: Article
• Language: English
• Subjects: Adolescence; Adolescent; Adult; Adult and adolescent clinical studies; Aged; ageing; Biological and medical sciences; Body Mass Index; Children; Cohort Studies; Complex syndromes; Cryptorchidism; Cryptorchidism - complications; Data processing; Diabetes Complications; Diabetes mellitus; Diets; Edema; Erysipelas; Female; Foot; Foot Deformities, Congenital - complications; Hip Dislocation, Congenital - complications; Humans; Hyperphagia; Hypertension - complications; Infection; Intellectual deficiency; intellectual disabilities; Intellectual Disability - complications; Leg; Life span; Male; Medical genetics; Medical sciences; Menarche; Menstrual cycle; Mental retardation; Metabolic diseases; Middle Aged; Obesity; Osteoporosis; Osteoporosis - complications; physical health problems; Prader-Willi syndrome; Prader-Willi Syndrome - genetics; Prader-Willi Syndrome - physiopathology; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Respiratory Tract Infections - complications; Skin Diseases - complications; Spinal Diseases - complications; Stroke - complications; Surgery
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.34171

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. © 2011 Wiley‐Liss, Inc.