Paediatrics: Fragile X Syndrome: Free MSRA Podcast

⚕️ FREE MSRA PODCAST – Fragile X Syndrome🎧 A clear, high-yield breakdown of this inherited cause of intellectual disability – perfect for exam prep and real-life clinical practice.🧠 Key Learning Points📌 Definition• Genetic disorder causing intellectual disability, behavioural challenges, and physical traits• Most common inherited cause of learning disability• Due to mutation in the FMR1 gene on the X chromosome📌 Causes & Risk Factors• CGG trinucleotide repeat expansion in the FMR1 gene• >200 repeats = full mutation (Fragile X Syndrome)• X-linked dominant inheritance• Risk factors: Family history, female carrier status, unexplained ID, premature ovarian failure📌 Pathophysiology• Full mutation → FMR1 gene methylation → reduced/absent FMRP protein• FMRP is vital for synapse formation and plasticity in the brain• Disruption causes impaired neural connectivity and function📌 Symptoms• Developmental delay, learning disability, autism traits• Long face, large ears, macro-orchidism (in males), hypermobile joints• Anxiety, ADHD, social avoidance, speech delay💡 Mnemonic: FACELIFTF: Facial featuresA: AnxietyC: Connective tissue signsE: Ears (large)L: Large testesI: Intellectual disabilityF: Flapping hands (repetitive behaviour)T: Tone (low)📌 Differential Diagnosis• Autism spectrum disorder• Down syndrome, Prader-Willi, Angelman• Klinefelter, Rett, Sotos syndrome• ADHD, global developmental delay, language disorders📌 Diagnosis• Confirmed by DNA analysis of FMR1 gene• <45 CGG = normal• 55–200 = pre-mutation• >200 = full mutation• Methylation testing confirms gene silencing• PCR, Southern blot, or methylation studies may be used📌 Management• Multidisciplinary: therapy, education, medication• 💡 Mnemonic: TEAMT: Therapy (speech, OT, behavioural)E: Education (special support plans)A: Accommodations (home/school/workplace)M: Medications (stimulants, SSRIs, antipsychotics for symptoms)• Genetic counselling essential for family📌 Complications• Seizures (~15% of males)• Behavioural issues (anxiety, aggression)• Connective tissue signs: flat feet, MVP• Social/communication impairment• Educational/occupational limitations📌 Prognosis• Cognitive and behavioural issues lifelong• Life expectancy is normal• Early diagnosis + intervention = better quality of life📎 More MSRA Resources for Fragile X Syndrome📝 Revision Notes: https://www.passthemsra.com/topic/fragile-x-syndrome-revision-notes/🧠 Flashcards: https://www.passthemsra.com/topic/fragile-x-syndrome-flashcards/💬 Accordion Q&A Notes: https://www.passthemsra.com/topic/fragile-x-syndrome-accordion-qa-notes/🚀 Rapid Quiz: https://www.passthemsra.com/topic/fragile-x-syndrome-rapid-quiz/🎓 Full Course: https://www.passthemsra.com/courses/paediatrics-for-the-msra/#MSRA #MSRARevision #MSRATextbook #MSRAQuiz #MSRAQuestionBank #MSRAFlashcards #MSRAQ&ANotes #MSRAAccordions #MultiSpecialityRecruitmentAssessment #MSRAOnlineRevision #MSRARevisionWebsite #FragileXSyndrome #PaediatricsMSRA