Down Syndrome PREP questions: 1.

You are attending a delivery at term for a women who received limited prenatal care. Upon reviewing the chart while awaiting the delivery, you find that she first presented for prenatal care at the beginning of the second trimester. Limited screening was done, but you note that the maternal serum alpha feta-protein concentration measured at 16 weeks gestation was described as low. Ultrasonography was scheduled, but the mother did not show up for the appointment. She was lost to follow-up after that time, and no further details are available. Of the following, the MOST likely potential diagnosis for the infant is: a. Anencephaly b. Omphalocele c. Spina Bifida d. TE fistula e. Trisomy 21 2. A couple comes to you with questions following the diagnosis of Trisomy 21 in their now 18 week fetus. They ask what medical problems may be anticipated for a child who has Down Syndrome. Of the following, the medical problem that is encountered MOST frequently in infants who have Trisomy 21 is: a. A cardiac defect b. Duodenal atresia c. Hypotonia d. Polycythemia e. Strabismus 3. You are evaluating a newborn 6 hours after his birth. Labor & delivery are uncomplicated, but amniocentesis performed during the pregnancy revealed trisomy 21. Fetal echo at 20 weeks showed normal findings. The infant is currently sleeping & is well perfused, with a heart rate of 140 beats/min and no audible murmurs. His physical features are consistent with Down syndrome. Of the following, the MOST appropriate diagnostic study to perform is: a. Barium swallow b. Cervical spine radiography c. Echocardiography d. Head ultrasound e. Radiography of the abdomen 4. A 7 y/o patient who has Down syndrome is brought to the clinic by her mother, who is worried that the child has an increasingly abnormal gait and worsening clumsiness. At age 3 years, she

was screened for cervical instability with flexion/extension cervical spine films, which showed normal results. On physical exam today, you note that she has an unsteady gait, and she has brisk deep tendon reflexes diffusely. These represent a change from 9 months ago when your neurologic examination showed only slightly diminished tone. Of the following, the MOST likely cause of these symptoms and signs in a child who has Down syndrome is: a. Cerebellar medulloblastoma b. Chiari I malformation c. Leukemia involving the CNS d. Subluxation of the atlantoaxial joint e. Transverse myelitis of the cervical cord 5. A neighbor approaches you regarding her concerns about her newborn grandson. Her 23 y/o daughter had an uneventful pregnancy, labor, and delivery and all of her prenatal tests were normal. The baby has been in the newborn nursery for 3 days and he is feeding poorly. He just cant seem to get the hang of sucking. She thinks his probably just lazy and she describes him as feeling like a rag doll when she holds him. She has noticed that he has a lot of skin at the back of his neck, and his fifth fingers are crooked. She thinks his penis is small. You suggest that she alert the babys physician of her concerns. Of the following, the MOST likely diagnosis is: a. 22q11 deletion b. Achondroplasia c. Cri-du-chat syndrome d. Down syndrome e. Prader-Willi syndrome

Answers: #1) PREP 2012, #159: E Content specifications: o Know the significance of abnormal AFP concentrations o Know the measurement of maternal serum AFP concentration is useful screening test for neural tube defects Low AFP: Down syndrome (trisomy 21) & trisomy 18 High AFP: Neural tube defects (anencephaly & spina bifida), ventral wall defects (omphalocele), sometimes with TE fistulas #2) PREP 2011, #103: C Content specifications: o Know the associated medical problems in children with Down Syndrome Hypotonia occurs up to 90%, but the degree varies from child to child 12% are born with GI abnormalities- esophageal atresia, TE fistula, Hirschprung disease, pyloric stenosis, duodenal atresia (4%) 50% are born with cardiac abnormalities- AV canal (50%), VSD( 33%) 18% are born with polycythemia 60% are born with eye abnormalities- cataracts, lacrimal duct stenosis, nystagmus, and refractive error #3) PREP 2009, #21: C Content specifications: o Recognize the increased risk and plan appropriate evaluation of congenital heart disease in a newborn infant with congenital anomalies such as trisomy 18, 21, or fetal alcohol syndrome Perform fetal echo regardless if one was completed prenatally Obtain lab confirmation (FISH), GDS (especially for thyroid), CBC, OAE or BAER Physical exam evaluation for cataracts, duodenal atresia, stridor/wheezing. Observe for feeding difficulties, apnea/breadycardia, reflux, constipation

#4) PREP 2008, #104: D No longer recommended to provide routine surveillance in asymptomatic children Special Olympics has special recommendations, avoid contact sports & trampoline Symptomatic children should undergo evaluation in neutral position with cervical x-ray. If abnormalities noted should be immediately referred to pediatric neurosurgeon/orhto without flexion/extension films #5) PREP 2008, #136: D Content specifications: o Know the physical features of a newborn with Down syndrome o Hypotonia (90%), poor moro reflex (85%), joint hyperextensibility(80%), flat facial profile (90%), upslanting palpebral fissures (80%), dsymorphic ear pinnae (60%), excess nuchal skin, incurving (Clinodactyly) of 5th fingers (50%), and small phallus with reduced testicular volume