Pediatric Examination and Board Review (49 page)

(B) “time-outs” of 15 minutes alone in her room

(C) loss of dinner

(D) model appropriate behavior and read a book like
Berenstein Bears

(E) make her apologize to each child, clean up the games, and clean her sister’s room for a week

13.
At age 9, Amy reads and performs math at an early second-grade level. She struggles with learning to write a short book report and she seems to have less energy after school. Her teachers are concerned that both her speech and handwriting have deteriorated. Of the following list, what is the most likely finding on evaluation in the office?

(A) hoarse voice and a mild macrocytic anemia

(B) vitamin B
₁₂
deficiency and a mild macrocytic anemia

(C) diabetes

(D) early puberty

(E) hearing loss

14.
All of the following interventions might enhance Amy’s language and communication skills except

(A) singing songs with rhyming words

(B) teaching conversational scripts

(C) using talking books

(D) surgery to decrease her tongue size

(E) all of above would enhance language and communication

15.
Which of the following functional skills should be a priority in Amy’s educational curriculum?

(A) enhance knowledge and understanding of warning signs and labels

(B) teach telling time

(C) teach money management skills for making basic purchases

(D) encourage responsibility for household chores

(E) promote participation in year-long Special Olympics activities

16.
At age 16, Amy has become more withdrawn since her older sister left for college. She does not seem to listen when she is called into another room. During menses, she has more hygiene accidents and she seems more hostile. Her mother has observed her crying alone in her bedroom after her brother went out with friends to a movie. What are some potential medical causes of Amy’s sadness and mood embodied by her crying?

(A) depression

(B) dysmenorrhea

(C) lack of exercise

(D) not having friends

(E) obstructive sleep apnea

17.
What are the issues that need to be considered and discussed involving Amy’s menses and menstrual hygiene?

(A) suggest sterilization

(B) find out how she handles personal hygiene

(C) discuss dating

(D) discuss contraception

(E) B, C, and D

18.
At age 25, Amy lives in a group home. She is employed by a hotel for room cleaning. She has begun to have frequent falls when walking longer distances. She also has had new onset of daytime encopresis. Her father recently died of pancreatic cancer. Her grandmother was recently diagnosed at age 85 with Alzheimer’s disease.

What is a common treatable medical condition in an adult with Down syndrome that can be associated with motor and continency problems?

(A) hypothyroid

(B) B
₁₂
deficiency anemia

(C) hearing loss

(D) depression

(E) cervical spine instability

19.
What are the support goals for Amy at this time?

(A) explain death and establish spiritual routines

(B) establish mentors

(C) access recreational activities

(D) have another person accompany her during medical encounters to explain Amy’s decline of skills

(E) all of the above

20.
Who advocates for Amy if complex medicaldiagnostic or surgical interventions are considered?

(A) family

(B) guardian

(C) state

(D) older sister

(E) Amy herself

21.
All of the following are key issues that should be discussed routinely during health-care visits in young adulthood except

(A) risky behaviors

(B) healthy weight and regular exercise

(C) symptoms of Alzheimer’s disease

(D) symptoms of depression and anxiety

(E) community participation and friendships

ANSWERS

1.
(B)
Eighty percent of children with trisomy 21 are born to women younger than 35 years. Prenatal advances have included maternal prenatal serum markers (low α-fetoprotein, unconjugated estriol, human chorionic gonadotropin, inhibin A, pregnancyassociated plasma protein [PAPP]), ultrasound markers, such as excess nuchal skin, absent nasal bone, femur length, and chorionic villus or early amniocentesis prenatal chromosome testing. Key findings in 90% of children with Down syndrome are midface hypoplasia (depressed nasal bridge, epicanthal folds, small palate with relative macroglossia), small ears, wide space between first and second toes, and central hypotonia. Children with central hypotonia have low tone but not flaccid weakness. The low tone contributes to oral motor deficiencies and delays in postured skills. It does not preclude walking.

2.
(C)
The role of the pediatrician is to express concerns, begin the process of clarifying the diagnosis, and share information with families.

3.
(A)
Polyhydramnios, not oligohydramnios, is associated with GI malformations.

4.
(C)
The most common congenital heart malformations in trisomy 21 are VSD, ASD, AV canal, persistent patent ductus arteriosus (PDA), and tetralogy of Fallot. HLHS is rare.

5.
(A)
Children with symptoms of an AV canal defect may have feeding difficulties, difficulty gaining weight, congestive heart failure (CHF), or excessive sweating. Their constipation is part of their hypotonia, not part of the AV canal defect.

6.
(A)
Many children with congenital heart disorders have difficulty with feeding skills. Among children with Down syndrome this may occur whether the child is breast or bottle fed. Involvement of a developmental feeding program that is supportive and fosters communication among all parties (pediatrician, cardiologist, developmental therapist) is helpful.

7.
(B)
Amy is having complex feeding challenges. Involvement of a pediatric developmental feeding team is in order.

8.
(E)
Night awakening can be a result of difficulty in self-soothing, nightmares, sleep onset disorder, and circadian rhythm disorder (often associated with long daytime naps). Seizures after open heart surgery often delay development.

9.
(E)
Children with Down syndrome may have sleep problems, sibling rivalry, and other typical behaviors of childhood. They benefit from management protocols used in kids without Down syndrome.

10.
(C)
Children with Down syndrome benefit from developmental and educational strategies that promote communication, as well as social, adaptive, and educational skills. The literature does not support the normalization of IQ by medical or educational interventions. However, all children with Down syndrome learn.

11.
(E)
The best management of challenging behaviors is time-out and positive reinforcement.

12.
(D)
All social skills can be taught. Children are wired to learn by watching others. Learning appropriate behavior and social scripts from watching others and reading children’s books is a powerful learning tool for children having difficulty with appropriate social skills and behaviors.

13.
(A)
Hoarse voice and a mild macrocytic anemia are both findings of hypothyroidism. Hypothyroidism is common in Down syndrome; children with Down syndrome should have routine thyroid function tests.

14.
(D)
Lingual reduction does not enhance speech in Down syndrome.

15.
(A)
Some knowledge of basic signs helps with community participation.

16.
(A)
Mood disorders are common in all adolescents, especially adolescents with developmental disabilities.

17.
(E)
Sterilization is not an option for handling menses and menstrual hygiene.

18.
(E)
Cervical spine instability can present with changes in bowel and bladder function.

19.
(E)
In young adults with developmental disabilities, loss of a family member requires all of the above.

20.
(B)
Although Amy may participate in these decisions, a designated guardian is the best solution.

21.
(C)
As adults, obesity, mood disorders, hearing impairment, thyroid disorders, and atlantoid-axial instability may contribute to changing performances in functional skills. Symptoms of Alzheimer’s begin to manifest after age 50 years in approximately a third of adults with trisomy 21.

S
UGGESTED
R
EADING

Kaplan-Sanoff M. School Readiness. In: Augustyn M, Zuckerman B, Caronna EB, eds.
Developmental and Behavioral Pediatrics: A Handbook for Primary Care,
Philadelphia, PA: Lippincott, Williams & Wilkins; 2011:322-326.

McBries DM. Disorders of mental development: Down syndrome. In: Wolraich ML, ed.
Disorders of Development and Learning.
3rd ed. Hamilton, Ontario, Canada: BC Decker; 2003.

Pueschel SM. Down Syndrome. In: Augustyn M, Zuckerman B, Caronna EB, eds.
Developmental and Behavioral Pediatrics: A Handbook for Primary Care
, Philadelphia, PA: Lippincott, Williams & Wilkins; 2011:192-195.

Roizen NJ. Down syndrome. In: Batshaw ML, ed.
Children with
Disabilities.
6th ed. Baltimore, PA: Paul H. Brookes; 2007.