Physical Health Problems in Adults With Prader-Willi Syndrome

Margje Sinnema*, Marian A. Maaskant, Henny M. J. van Schrojenstein Lantman-de Valk, I. Caroline van Nieuwpoort, Madeleine L. Drent, Leopold M. G. Curfs, Constance T. R. M. Schrander-Stumpel

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.
Original languageEnglish
Pages (from-to)2112-2124
JournalAmerican Journal of Medical Genetics Part A
Issue number9
Publication statusPublished - Sept 2011


  • Prader-Willi syndrome
  • physical health problems
  • ageing
  • intellectual disabilities

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