Pediatrics Final Exam 2022/2021 with all correct answers.

Pediatrics Final Exam 2022/2021 with all correct answers. 1. Down's syndrome: chromosomal (3 copies of chromosome 21) PRESENTATION: developmental delay, memory issues, flattened nose bridge, hearing + vision impairment, increased cervical spine mobility. dx: prenatal screening; may appear "floppy" at birth INTERVENTIONS: supportive care + preventing complications. complications: heart defects, GI abnormalities, immune disorders, obesity, dental issues, sleep apnea, spinal problems, hypothyroidism, hearing + vision loss. 2. PKU: rare, inherited metabolic disorder; autosomal recessive. liver enzyme deficiency - the body cannot process phenylaline and elevated levels of phenylaline can lead to permanent brain damage. PRESENTATION: irritability, n/v, musty smell, seizures. if it is left untreated, the child can develop skin rashes, microcephaly, developmental delay, intellectual disability and hyperactivity. INTERVENTIONS: a meal plan low in phenylaline (low protein). avoid eggs, dairy, meat, poultry, fish, nuts, and beans. 3. Fragile X: most common cause of intellectual disability; x-linked dominant inheritance (boys have more severe sx because they only have 1 x chromosome). PRESENTATION: subtle sx during childhood with dysmorphic features and a developmental delay. adolescent boys may have a large head, long face, prominent ears/ chin/ forehead, and flexible joints as well as flat feet and enlarged testicles. cognitive deficits: speech + behavioral problems (hand flapping, biting, short attention span, no eye contact). DX: genetic testing 4. Turner's syndrome: only affects females because of the absence of the 2nd sex chromosome. monosomy x or x mosaicism. most cases are NOT inherited. PRESENTATION: short stature, slow growth, thick-webbed neck, broad chest with widely spaced nipples, low set ears, edema of hands and feet. DX: genetic testing INTERVENTIONS: manage chronic middle ear infections, hearing loss, autoimmune disorders, heart/ liver/ kidney abnormalities, spatial relationships, and EF difficulties. TX: growth hormone and estrogen therapy