Psych CASC / OSCE · Intellectual disability — neurodevelopmental
Explain fragile X diagnosis and family implications — CASC communication station
MRCPsych/FRANZCP-style communication station: explain FXS without blame, allele classes in plain language, no disease-modifying core cure, supports and comorbidity care, cascade counselling including FXPOI/FXTAS concepts.
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Station brief
Format. Communication station, approximately 7–10 minutes active time after reading. You are the dual-diagnosis / CAMHS psychiatry registrar. [1]
Candidate instructions. Explain fragile X syndrome to parents in plain language, cover inheritance and why relatives may need testing, address mother's early menopause carefully, clarify that no medicine cures the gene change, outline school and therapy supports and treatable anxiety/ADHD symptoms, check understanding and offer written information and genetics follow-up. The examiner plays the parents. [1][2]
References4ShowHide
- [1]Hagerman RJ, Berry-Kravis E, Hazlett HC, et al. Fragile X syndrome Nat Rev Dis Primers, 2017.PMID 28960184
- [2]Hunter JE, Berry-Kravis E, Hipp H, Todd PK FMR1 Disorders GeneReviews, 1993.PMID 20301558
- [3]Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study Am J Med Genet, 1999.PMID 10208170
- [4]Cordeiro L, Ballinger E, Hagerman R, Hessl D Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization J Neurodev Disord, 2011.PMID 21475730