PHAR 562 Lecture Notes - Lecture 14: Seizure Threshold, Malabsorption, Lysosome
2 Nov 2017
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Document Summary
1991 determined that it was caused by mutations that inactivate fmr1 gene which codes for fmr protein. Form of x-linked mr/id discovered by martin and bell in 1943. Most common known inherited form of cognitive disability. Physical: large prominent ears, long face, large head, prominent jaw and forehead, midfacial hypoplasia, hyperflexible joints and large testis. Behavioural problems: anxiety, hyperactivity, distractibility, perseveration, aggression. Medical: otitis, sinusitis, mvp, reflux, sleep apnea, loose stools, allergies. Males average adult iq about 40 with mental age of 5-6yo: range from severe id to normal, mosaics. Iq scores higher when young and declines with age: perhaps some neurodegenerative effects, when there is some type of infection, sometimes it can lead to regression or deterioration in abilities. Achievement and adaptive skills higher: very good at repetitive movement. Most fxs pts can be identified with delay on developmental screens: 9-18mo. Average age of dx still between 3-4yo: no change in the past 10 years.
