Pc-Pncb Exam Questions With Correct Answers

BACKGROUND: - 10yo male w/Constitutional Growth Delay QUESTION: Kid asks, "When will I be as tall as my Dad?" A) Eventually, you'll hit a growth spurt B) Little chance you'll be as tall as your dad C) Unsure what final height will be, but should be less than Dad D) Eat well, otherwise you'll always be short {Ans: CORRECT ANSWER(S): A}BACKGROUND: - 10mo w/hypotonia, alopecia, & sz - Labs = ketoacidosis, hyperammoniemia, elevated urine organic acid - Biotinidase deficiency is suspected QUESTION: What is true regarding Biotinidase deficiency? A) Biotin levels are elevated & should not be supplemented B) Hearing/Vision loss occur C) Biotin is a fat soluble B-complex vitamin D) Biotinidase does not participate in the processing of dietary protein-bound biotin {Ans: CORRECT ANSWER(S): B) - Manifestations = sz, hypotonia, ataxia, dev delay, hearing/vision loss, spastic paraparesis, & cutaneous abnormalities (including alopecia) WRONG ANSWERS: A) Tx = biotin supp (prevents dev delay & reverses most symptoms) C) Biotin = water-soluble B-complex vit D) It is involved}QUESTION: Which of the following is correct re: dx of intellectual disability? A) Assess via developmental hx B) Neuropsych = gold std for dx'ing intellectual disability C) Dx using lab findings D)