For nearly 2 years, Dr. Nicolette Weisensel has collaborated with Dr. Merlin Butler from the University of Kansas to study the “PWS Genetic Subtypes and Clinical Neuropsychiatric Diagnosis in Adults.” In April 2015, she attended the 3rd Asia-Pacific Prader-Willi Syndrome Conference at Melbourne, Australia to present the results of their shared research. Dr. Weisensel is particularly excited about this conference; it provides the platform for first unveiling different subtypes of PWS correlation to psychiatric diagnosis with the residents on-campus.
The aim of their study is to discover the differential between different subtypes that contribute medically in following residents as they age. Subtypes will determine correlation/link to conditions such as dementia, heart issues, etc., so that proper preventive care can be delivered to individuals with PWS.
Below are preliminary genetic subtyping results of 71 people tested with PWS:
1. 5% imprinting defect
2. 55% 15q11 – q 13 deletion
a). 14 had large Type I deletion
b). 22 had smaller Type II deletion
3. 41% UPD (Uniparental Disomy). This group was
further divided into subtypes:
a). 10 had Segmental Isodisomy
b). 5 had Isodisomy
c). 12 had Heterodisomy
4. 4 are yet to be classified
According to Dr. Weisensel, “Preliminarily, there have not been any specific differences in neuropsychiatric diagnosis in any of the groups or sub groups. However, these are only preliminary results and further data analysis is ongoing except when comparing Type I deletion to Type II deletion. Type I deletion had statistically significant more neuropsychiatric diagnosis than Type II deletion. This mirrors what has been found in similar research. These percentages are clearly different than those found in the population at large. Individuals with PWS which likely reflects to a greater tendency with neuropsychiatric diagnosis should be referred for residential care”.
Dr. W’s future projects will be an extension of the above mentioned project as follows:
1. Data analysis.
2. Contact parents of individuals with UPD – Heterodisomy Subtype and ask them to submit a saliva sample in helping define the Heterodisomy Subtype.
3. Continue to present at PWS conferences as data flows from their study.
Challenges that Dr. Weisensel faced were funding for the study and participation. Few clients refused to participate, which Dr. Weisensel thinks is a good rate of participation. She believes participation should be encouraged, to advance understanding and knowledge of the treatment.
PWHO wants to thank participants and all involved in the study!