Paediatrics: Prader-Willi Syndrome: Free MSRA Podcast

🍽️ FREE MSRA PODCAST – Prader-Willi Syndrome: Genetics, Features & ManagementThis high-yield episode unpacks everything you need to know about Prader-Willi Syndrome (PWS)—from the unique genetic causes to clinical presentation, diagnosis, complications, and long-term care. Built for MSRA revision or clinical reference!🧠 Key Learning Points📌 Definition• Prader-Willi syndrome (PWS) is a rare genetic disorder caused by loss of function of paternal genes on chromosome 15• Characterised by infant hypotonia, poor feeding early on, then relentless hyperphagia, rapid-onset obesity, developmental delay, hormonal and behavioural issues📌 Causes & Risk Factors• Caused by loss of paternal 15q11-q13 region (most commonly via deletion, or maternal uniparental disomy)• Occasionally due to imprinting centre defects• Most cases are sporadic, not inherited—recurrence risk is usually low, but can be higher with certain imprinting defects📌 Pathophysiology• Lack of key paternal genes disrupts hypothalamic function: appetite regulation, growth hormone, sex hormones, behaviour• Classic example of a genomic imprinting disorder📌 Clinical Features• Neonatal period: – Profound hypotonia (“floppy baby”), weak cry, poor feeding, delayed motor milestones• Early childhood: – Dramatic switch to hyperphagia (insatiable hunger) – Rapid weight gain, severe obesity without strict control – Short stature, small hands/feet, distinct facial features, hypogonadism – Developmental delay, learning difficulties – Behavioural issues: temper tantrums, skin picking, compulsivity, stubbornness – Sleep disturbance (sleep apnoea)• Adolescence/adulthood: – Ongoing obesity, hormonal deficits, osteoporosis, diabetes risk, scoliosis📌 Diagnosis• Gold standard: DNA methylation analysis detects abnormal imprinting on chromosome 15 regardless of mechanism• FISH/genetic microarray can clarify underlying cause (deletion, UPD, imprinting defect)• Hormonal evaluation, developmental and behavioural assessment, sleep studies as indicated📌 Management• Multidisciplinary approach: – Strict nutritional supervision from early age—lock food, calorie control – Growth hormone therapy: improves stature, muscle mass, reduces fat – Physiotherapy, occupational, and speech therapy for motor and developmental support – Tailored education and behavioural interventions – Psychological support, family education – Medications for severe behavioural or mental health issues as needed• Lifelong regular follow-up to monitor growth, complications, and adaptive needs• Transition planning for adult care, supported living where required📌 Complications & Prognosis• Major risk: life-threatening obesity and its sequelae—type 2 diabetes, hypertension, heart disease, respiratory failure• Scoliosis, osteoporosis, sleep apnoea, GI issues, skin problems, behavioural crisis• Reduced life expectancy (average age of death ~30, but variable—better with modern care)• Quality of life and survival much improved by early, coordinated intervention📎 More MSRA Resources for Prader-Willi Syndrome📝 Revision Notes: https://www.passthemsra.com/topic/prader-willi-syndrome-revision-notes/🧠 Flashcards: https://www.passthemsra.com/topic/prader-willi-syndrome-flashcards/💬 Accordion Q&A: https://www.passthemsra.com/topic/prader-willi-syndrome-accordion-qa-notes/🚀 Rapid Quiz: https://www.passthemsra.com/topic/prader-willi-syndrome-rapid-quiz/🎯 Practice Quiz: https://www.passthemsra.com/quizzes/praderwilli-syndrome/🎓 Paediatrics Course: https://www.passthemsra.com/courses/paediatrics-for-the-msra/#MSRA #MSRARevision #MSRATextbook #MSRAQuiz #MSRAQuestionBank #MSRAFlashcards #MSRAQandANotes #MSRAAccordions #Paediatrics #PraderWilliSyndrome #RareDiseases