Prader–Willi Syndrome and diagnostic protocols: a preliminary study in Romania Sindromul Prader–Willi si protocoale de diagnostic: studiu preliminar in Romania

Prader Willi Syndrome (PWS) is a neurometabolic genetic disorder affecting 1/12.000-1/15.000 newborns. Molecular mechanisms that could lead to this disorder include chromosomal deletions, uniparental disomy (UPD), intragenic mutations, and epigenetic modifications in the process of imprinting and rarely reciprocal translocations. A common defect is noticed in all cases: loss of parental contribution for the functioning of specific genes in normal conditions, due to genetic instability of the critical region 15q11-q13. Objectives of the study concerned the implementation of molecular genetic/ epigenetic methods of investigation and development of an interdisciplinary clinical investigation algorithm specific for the disease (geneticist, pediatrician, endocrinologist, psychiatrist, neurologist, psychologist, orthopedist, pneumologist, nutritionist) aiming for early recognition of the clinical features, resulting in early diagnosis and early intervention. Materials and methods: a multicentric study started in 2008, being included in a research project (CNMP / Partnerships, 2008-2011), and coordinated by UMF Timisoara. So far, 9 suspected cases of PWS have been investigated and in 3 cases family members have been tested (brother, sister, parents, grandparents). Results: The investigation protocol applied, including multidisciplinary clinical evaluation, laboratory investigations, and specific genetic and epigenetic tests relevant for the subtypes of PWS, allowed accurate diagnosis of patients. This approach was applied for the first time in our country. Conclusions: Early recognition and diagnosis is essential in PWS, as complex treatment applied in due time leads to prevention of obesity installation and other redoubtable complications. This is possible by interdisciplinary approach and detection of molecular mechanisms involved, allowing an appropriate