Clinical and Molecular Characterization of Prader-Willi Syndrome
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To describe the clinical presentations and molecular diagnosis to aid the clinicians in early diagnosis and appropriate management of Prader-Willi syndrome (PWS).
Thirty-four clinically diagnosed PWS cases were enrolled after obtaining informed consent/assent. Demographic details, clinical data and anthropometry were recorded using structured proforma. The facial dysmorphology was evaluated. Appropriate genetic testing was performed to confirm the diagnosis.
At diagnosis, the most common clinical features included obesity (59%) and short stature (53%). Distinct dysmorphic features were observed in 67%. Neonatal hypotonia with feeding difficulty, delayed development in infancy and childhood behavioral problems were reported in 94%, 94% and 74% respectively. Food seeking behavior and hyperphagia was reported in 67%. Seizures were reported in 47%. All children had underdeveloped external genitalia. Growth hormone (GH) deficiency and impaired glucose tolerance were found in 56% and 50% respectively. Sleep related problems were seen in 67%. Skin and rectal picking were reported in 67%. FISH confirmed micro-deletion was found in 64.7% and abnormal methylation in 35%, of which uniparental disomy was confirmed in 14.7%.
Clinical suspicion is vital for early detection of PWS. Confirmation of the diagnosis requires complex multi-tier molecular genetic testing.
KeywordsPrader-Willi syndrome Clinical features Obesity Neurobehavioral problems Genetic testing
The authors wish to acknowledge Dr. Asha Benakappa, Director, IGICH for her support provided in the management of these children. They are thankful to the children and their parents who participated in this study.
GNS was involved in the care of these children and also designing, data collection, analyzing and interpreting the data and writing the manuscript. MM was involved in the care of these children and designing and data collection. RKM was involved in the data processing and analysis. HK is involved in the care of these children and data collection. PSK and JSK were involved in the molecular testing and contributed in writing the manuscript. UH and EL were involved in the methylation testing and contributed in writing the manuscript. PR was involved in the care of these children and also designing, data collection, analyzing and interpreting the data and edited the manuscript. MB was involved in the care of these children and also designing, data collection, analyzing and interpreting the data and writing the manuscript. She has overseen the research and will also be the guarantor of the paper. All authors have reviewed the manuscript. GNS will act as guarantor for the paper.
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