Nursing 209

N209: Reproductive Health Study Guide • Most common symptom: Severe intellectual disability • May also develop gait disturbance, hyperactivity, and sometimes psychosis • May have a body odor related to the breakdown of phenylalanine; noted in urine and sweat • May also have a skin rash that resembles infantile eczema • Diagnosis is made via newborn screening 24-48 hours after birth; will also observe phenylalanine levels • Treatment: Restriction of dietary phenylalanine for life (adults must also drink special formula for life to meet nutritional needs) • Prognosis: If treatment is begun early in life it can prevent all aspects of disease • If treatment is delayed after 2-3 years of age, it will only control neurological symptoms of hyperactivity and seizures o Medication: Kuvan (works to break down phenylalanine into tyrosine by stimulating phenylalanine hydroxylase enzyme) • Education: o Newborns must drink special formula (may be mixed with breast milk or regular formula for enough phenylalanine for growth) o Diet of low protein natural foods; avoid aspartame (releases phenylalanine when ingested) o Use of protein hydrolysates for breakdown o Amino acids that are free of phenylalanine Cleft Lip/Cleft Palate • Referred to as orofacial clefts • Cleft lip: Develops in weeks 4-7 of pregnancy when the lip andmouth development takes place; an opening occurs in one or both sides of the upper lip. This occurs in approximately 4440 babies each year in the U.S. • Cleft palate: Develops in the weeks 6-9 of pregnancy when the roof of the mouth develops; the tissue in the roof of the mouth does not join together. This occurs in approximately 2650 babies each year in the U.S. • The cause of cleft lip/cleft palate is unknown, but it is thought to be a combination of genetic and teratogenic factors • Thought to have increased incidence in women who smoke, have diabetes, andwho have taken certain epilepsy medications • Diagnosis is made prenatally, but can be made after birth, especially with cleft palate • Often babies are born with both cleft lip and palate • Treatment: o Cleft lip: Surgery is recommended to repair within first 12 months of life o Cleft palate: Repair is recommended in first 18 months of life o May require additional surgeries as they get older

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