Prader-Willi Syndrome Association (USA) Database Collection Uncover Areas of Needed Research

Janalee Heinemann, Barbara McManus

Prader-Willi Syndrome Association (USA), Sarasota, FL

Introduction

Prader-Willi Syndrome Association (USA) conducted a solicitation-based survey to update their database with those with the syndrome.. Questions were asked about diagnosis, medication use and major medical concerns. As of April 2005, we have collected information on 1,141 individuals.

Methods

The survey form was mailed to 3,479 addresses and 31% of those mailed did respond. Five hundred seventy three addresses were incorrect. Additional requests were posted on the national website and emailed to support groups hosted by Prader-Willi Syndrome Association (USA). In the three months following the initial request, 86 new people have been identified that were not known to the association. Three responded that their child was deceased. These were deaths that PWSA (USA) was not aware of and have been added to the PWS Study of Deaths Database which currently consists of 176 deceased individuals.

Thirty-percent of respondents had children under age five years. However, the initial statistical information stated in this abstract included all who responded regardless of age. In addition, 31% of those responded did not have an official diagnosis, or more typically did not know the clinical diagnosis/description of their child. Forty-one percent were reported with the 15q deletion, 21% with maternal disomy 15 (UPD), 2% with imprinting defects, 2% were PWS-like and 2% with chromosome 15 translocations. At birth, three sets of identical twins (both with PWS) and 19 sets of fraternal twins (one with PWS) were reported. Other birth related data were: 52% used tube feeding, 27% had emergency C-section, 25% were breech, 22% were premature, and 3% reported the use of assisted reproductive techniques. Data listed under the heading major medical concerns (current or in the past) were: 64% weight-related (obesity), 45% high pain tolerance, 39% sleep apnea, 34% curvature of the spine, 33% severe skin picking, 19% other respiratory complications, 15% pubic or axillary hair before age 8 years, 14% fractures, 13% autistic behavior, 11% gastric/intestinal disorders, 10% seizures, 10% osteoporosis, 9% aspiration, 9% diabetes, 9% hypothyroidism, 8% heart problems, 7% hip dysplasia, 7% other bone problems, 4% gall bladder disease, and 1% mitochondrial disorder. Regarding hormone therapy, 54% at some time had received or are receiving growth hormone and 16% have received other types of hormone replacement therapy.

Percent 0% 17% 27% 30% 26%

BMI Below 18.5 18.5 – 24.9 25.0 – 29.9 30.0 - 39.9 40.0 and above

Weight Status Underweight Normal Overweight Obese Morbid Obese

The collection of clinical information will be ongoing. Many of the medical concerns are age related thus information presented will be broken into age categories. Prader-Willi Syndrome Association (USA) does not claim this information to be collected for scientific purposes, but hopes the scientific community will find the information useful in future research studies and for management of Prader-Willi syndrome.