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Reply To: Genetics

#470331

Helen Carey
Participant

Consider focusing on the most common conditions seen clinically. Although Campbell doesn’t have a chapter on genetics, Effgen’s 2nd edition does. They list these as the most common: Angelman, Crid-du-chat, Klinefelter, Prader-Willi, Trisomy 13 and 18 and 21, Turner syndrome, achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, Fragile X, hemophilia, Neurofibromatosis, Lesch-Nyhan syndrome, OI, PKU, Rett, SMA, and tuberous sclerosis. It would be important to understand how children are affected across the ICF for each of these; this includes overall outcomes and prognosis. Keep in mind that there have been significant advances in SMA and DMD in the past few years, which may not be reflected in the exam.