McGraw-Hill Specialty Board Review Pediatrics, 2nd Edition

Chapter 4. DEVELOPMENT

CASE 22: A 2-MONTH-OLD WITH COLIC AND SUBSEQUENT DEVELOPMENT DELAY

A 2-month-old girl named Sarah presents for a well-child check-up. Her parents report that she is having very difficult evenings. She has periods of crying that last for more than 3 hours. They have occurred in 5 of the last 6 days. Her mother is exhausted and wonders if there is something wrong with the infant formula you recommended.

Sarah was adopted from an international orphanage in early childhood. She weighed 2.14 kg and her gestational age was 34 weeks. It is unknown if she had any complications in utero or at delivery. The mother was cautioned that Sarah might have “development problems.”

The physical examination is normal.

SELECT THE ONE BEST ANSWER

1. All of the following statements about colic are true except

(A) it often begins at 41-42 weeks gestational age

(B) fussiness occurs between 5 and 8 pm

(C) if it occurs only in the evening, it is probably related to food intolerance

(D) colic stops in 90% of children by 4 months

(E) some infants may be hyperirritable and have signs of hyperarousal

2. Which of the following is not helpful and possibly harmful in the management of colic?

(A) a thorough physical examination to rule out a cause for pain or discomfort

(B) extensive laboratory testing

(C) feeding in an upright position with more frequent burping

(D) swaddling

(E) use of a pacifier

3. Which strategy is not useful in managing colic?

(A) provision of close and consistent follow-up

(B) education of the family about crying and discussion of how stressful it is

(C) careful history and physical examinations

(D) social services involvement to evaluate for evidence of neglect or abuse

(E) reassuring parents that there is nothing physically wrong with their child

4. Among the following factors, which is a major risk factor for cerebral palsy (CP)?

(A) cleft palate

(B) breech presentation

(C) small for gestational age (SGA)

(D) emergency cesarean delivery for fetal distress

(E) Apgar of 5 at 1 minute and 6 at 5 minutes

5. Which of the following cranial sonographic abnormalities does not increase the risk for CP in preterm infants?

(A) intraventricular hemorrhage (IVH) grade 3

(B) IVH grade 4

(C) periventricular leukomalacia

(D) IVH grade 1 or grade 2

(E) none of the above

6. At 9 months of age, Sarah has difficulty with rolling. During the pull-to-sit maneuver she comes to a stand. She tries to bat at rings. There are no obvious posture or tone changes when the Moro reflex and the asymmetric tonic neck reflex (fencer’s response) are elicited. Her head circumference is at the 25th percentile. All of the following would likely be found on Sarah’s examination except

(A) brisk lower extremity reflexes

(B) clonus at ankles

(C) ease of moving her foot toward her ear

(D) decreased range of motion at hips

(E) strabismus

7. At 12 months of age, motor delay continues. Sarah cannot get to sit or consistently roll both ways. There is hip abduction to 40 degrees. At what initial routine examination age would difficulty with sitting first reflect a delay?

(A) 4 months

(B) 5 months

(C) 6 months

(D) 9 months

(E) 12 months

8. At 12 months of age, there is intermittent fisting, right greater than left. What fine motor skills are most likely to be observed?

(A) transferring objects between hands

(B) batting at objects

(C) finger feeding

(D) pincer grasping

(E) releasing blocks

9. An audiogram, hip radiograph, cranial magnetic resonance imaging (MRI), and Bayley Developmental Scales are obtained. If the audiogram reveals a hearing loss of more than 60 db, what might you discover?

(A) delays in cooing

(B) difficulty localizing a fire siren directly

(C) previous exposure to high levels of aminoglycosides

(D) parents reporting she does not smile when they call her name

(E) she was too young to test hearing

10. What potential abnormalities that may explain this child’s motor disability are least likely to be found on cranial MRI?

(A) central nervous system (CNS) calcification

(B) craniosynostoses

(C) periventricular leukomalacia

(D) ventriculomegaly

(E) all of the above are likely to be found

11. Sarah’s developmental skills on the Bayley Scales reveal a mental development index (MDI) of 70 and a psychomotor development index (PDI) of less than 50. The normal range is 100 plus or minus 15. What do these scores most likely predict?

(A) transient motor delays

(B) delays that qualify her for Early Intervention

(C) delays that do not qualify her for supplemental security income (SSI) defined in the Welfare Reform Act

(D) delays that will make it difficult to learn any skills beyond these possessed by a normal 1-year-old

(E) none of the above

12. At 15 months of age, Sarah was assessed on the Battelle Developmental Scales. Her gross motor and fine motor skills are at a 6-month developmental age, her receptive language skills are at 12 months, her expressive language skills are at 9 months, and her social and emotional skills are at 15 months. Sarah would be expected to do all of the following except

(A) roll

(B) maintain sitting in tripod

(C) have head control

(D) crawl

(E) roll front to back

13. If Sarah’s fine motor skills are at a 6-month level, which skill should be most challenging for her?

(A) batting at objects

(B) picking up a block

(C) demonstrating a mature pincer when offered a pellet

(D) holding a bottle

(E) none of the above skills should be difficult for her

14. If her social and emotional skills are at a 15-month level, what would be most difficult for Sarah?

(A) physically separating from her mother

(B) recognizing her mother

(C) recognizing her father

(D) sharing toys with her younger cousin

(E) playing peek-a-boo

15. At 18 months of age, Sarah has anterior props and can be placed sitting in her playpen. She fully extends both arms during the parachute maneuver. There is no fisting. She can combat crawl. Her lower extremities adopt a scissoring posture when you check her ability to bear weight. Sarah’s type of CP is best characterized as

(A) hemiplegic

(B) diplegic

(C) triplegic

(D) quadriplegic

(E) none of the above

16. At the age of 2 years, Sarah can say a few words (“Mommy, cookie”), point at five pictures, point at body parts, maintain sitting balance, pull to a stand, finger-feed, drink from a sippy cup, remove socks, and use a spoon. Which skill will be most difficult for Sarah to learn in her preschool years?

(A) communicating in sentences

(B) using the toilet

(C) walking with the assistance of braces and rollator

(D) running as fast as peers

(E) pedaling a tricycle

ANSWERS

1. (C) Wessel has listed criteria for colic as crying for more than 3 hours per day, for 3 days or more a week, and for more than 3 weeks. Colic typically begins at 41 to 42 weeks’ gestational age even in preterm infants. Thus a 34-week infant who comes for a checkup at 8 weeks is at the peak age for beginning colic. There are two clinical patterns: (1) paroxysmal fussing, which typically occurs between 5 and 8 pm with the infant seeming content at other times; (2) hyperirritability, which occurs at all hours in response to either external or internal stimuli that are hard for adults to decipher.

2. (B) The key to colic is history and careful physical examination. Any problem that causes pain can also cause irritability but rarely paroxysmal irritability.

3. (D) Major management tools are to empathize, give parents permission to describe the impact of crying on the family’s sense of well-being, and support for feelings of anxiety, guilt, isolation, and fear. In trying various management options, such as formula changes, it is important to emphasize to a parent that this will be a clinical trial that might not work and does not mean the child has an ongoing illness.

4. (C) Both being SGA and of moderately low birthweight status increase the risks for spastic diplegia. Children with SGA can have a range of colic and temperament differences as well as gastroesophageal (GE) reflux and growth delays.

5. (D) Associated factors with CP include congenital cytomegalovirus (CMV), placental abnormalities, or CNS abnormalities originating at 24 to 32 weeks. Ultrasound findings associated with CP can include intraventricular hemorrhage (IVH) 3, IVH 4, and periventricular leukomalacia.

6. (C) Sarah is demonstrating increased tone; thus bringing her foot to her ear is difficult.

7. (D) Piper and colleagues demonstrated that 1% of infants are not sitting by 8 months; thus not sitting at 9 months reflects a delay.

8. (B) As children develop more mature motor skills, their hands become more relaxed and unfisted. They begin to have controlled movements of fingers that allow for higher-level manipulative skills. Persistent hand openness is required for transferring objects between hands, finger feeding, pincer grasping, and releasing blocks. Batting at objects does not require controlled coordination of fingers.

9. (C) Children with 60-db hearing loss can respond to sirens (>100-db sound source). They also smile and coo. In an era of transient otoacoustic emissions and automated auditory brainstem response, no child is too young to be tested. Children who receive aminoglycosides may experience auditory nerve toxicity. However, both genetic testing for common causes of nonsyndromic sensorineural hearing loss and evaluation for genetic vulnerabilities to ototoxicity need to be considered.

10. (B) Craniosynostosis is not associated with CP. Both periventricular leukomalacia and ventriculomegaly reflect white matter injury that contributes to spastic motor disability. Children with CNS calcifications secondary to CMV, toxoplasmosis, or rubella have multiple neurodevelopment impairments including neurosensory, developmental, and motor disabilities. Children with craniosynostosis (Apert, Crouzon, Pfeiffer) have a range of cognitive and learning disorders but not CP.

TABLE 22-1. Cerebral Palsy Syndromes

 

TYPE OF CEREBRAL PALSY

MAJOR RISK GROUPS

CHARACTERISTIC FEATURES

AMBULATION POTENTIAL

ASSOCIATED SENSORY AND DEVELOPMENTAL IMPAIRMENTS

ACTIVITY OF DAILY LIVING FUNCTIONING

 

Diplegia

VLBW with IVH 3-4, PVL, or ventriculomegaly.

Legs involved more than arms. 50% preterm. Increased lower extremity tone is clue.

90% walk. Those not walking at 3 years are at high risk for deformity.

Strabismus, learning, attention, and communicative disorders are common.

Independent in self-care and sphincter control. Major academic challenges in elementary school.

Triplegia

Etiologies overlap with diplegia and hemiplegia.

Combination of diplegia and hemiplegia.

50% walk. High rates of deformities.

Strabismus, cognitive, communicative, learning, and attention disorders are common.

Difficulty with manual dressing tasks, climbing stairs, and perineal hygiene.

Hemiplegia

50% congenital. Intrauterine co-twin demise. Congenital heart surgery.

One side of body, arm more involved than leg. Early hand preference is a clue.

100% walk. Extent of parenchymal brain abnormalities related to cognition.

Visual field cut, cognitive and communicative disorders. High rate of partial seizures.

Difficulty with fasteners for dressing, independent in basic self-care and sphincter control tasks.

Quadriplegia

CNS dysgenesis, meningitis, prolonged cardiopulmonary arrest

Significant involvement of all four limbs. Usually has mixed tone including spastic, and dystonic.

25% walk; however, 100% walk who have sitting balance by 2 years.

Epilepsy and significant mental retardation in 50% (IQ < 50). Deafness and severe visual impairment in 50%.

High rate of self-care, communicative, and continency limitations. Benefits from assistive technologies.

 

Abbreviations: IVH, intraventricular hemorrhage; PVL, periventricular leukomalacia; VLBW, very low birthweight.

11. (B) Most state Early Intervention regulations require a delay of two standard deviations in one area for program eligibility. Sarah meets these criteria on both motor and developmental tasks.

12. (D) Crawling is a 9- to 10-month developmental motor skill. This would be too difficult for Sarah.

13. (C) Children develop a mature pincer between 9 and 11 months. This would be difficult for Sarah at this time.

14. (D) Sharing with others does not become common until after the second birthday.

15. (B) See Table 22-1: Cerebral Palsy Syndromes.

16. (D) Children with diplegia have a 90% probability of becoming ambulatory. They are able to learn selfcare skills. They have higher rates of learning disorders and attentional disorders. Although Sarah will have some gait differences, she should be viewed as a child who will continue to develop learning and adaptive skills.


SUGGESTED READING

Palmer FB, Hoon AH. Cerebral Palsy. In: Augustyn M, Zuckerman B, Caronna EB, eds. Developmental and Behavioral Pediatrics: A Handbook for Primary Care, Philadelphia, PA: Lippincott, Williams & Wilkins; 2011:164-171.

Parker S, Magee T. Colic. In: Augustyn M, Zuckerman B, Caronna EB, eds. Developmental and Behavioral Pediatrics: A Handbook for Primary Care, Philadelphia, PA: Lippincott, Williams & Wilkins; 2011:182-186.

Piper MC, Darrah J. Motor Assessment of the Developing Infant. Philadelphia, PA: WB Saunders; 1994:114-139.

CASE 23: A 4-YEAR-OLD BOY WITH MOTOR DISABILITY PREPARING TO TRANSITION TO PUBLIC SCHOOL KINDERGARTEN

Casey is a 4-year-old boy getting ready for transition to public school. He has been diagnosed with CP.

Birth history: Pregnancy was complicated by a placental abruption at 36 weeks’ gestation. This occurred during a sailing party in a rural area. It took approximately 6 hours to reach an emergency department and an additional 3 hours to bring together anesthesiology and obstetrics for a cesarean delivery. Casey weighed 7 pounds at birth. The neurologist informed the parents that Casey did suffer brain damage; however, there was a chance that future disability could be minimal.

Developmental history: At 5 months, Casey entered an Early Intervention program. As an infant, he was alert and responsive to social interactions, but his motor control and coordination were poor. By the age of 4 years he could use a touch talker to communicate basic needs and could use a switch to direct his powered wheelchair. His parents, particularly his mother, are very involved with his learning and have a positive partnership with his preschool. An intelligent and well-educated person, his mother communicates and listens to the professionals and provides useful input regarding Casey’s learning styles and ways to promote his development.

Physical examination reveals an alert, social boy in a wheelchair. He laughed when you told him that your favorite summer food was ice cream. His growth is at the 25th percentile. His neurologic examination reveals full extraocular movements, difficulty with putting his tongue to lips, chin, or cheeks on request, and inability to repeat common sounds or words. He can indicate his needs with a picture board. His lower extremity reflexes are 3+ at the knees, and sustained clonus is elicited at the ankles. With eye gaze, he identifies shapes and colors and has prepositional concepts and counting skills.

As Casey prepares his transition to a public school setting, his mother has requested a team meeting with the physical therapist, teacher, and psychologist. She says that Casey has many more capabilities than are shown by his motor skills. She is dissatisfied with timed assessments of Casey and wants the staff to use modifications that will accurately reflect Casey’s abilities. She states that Casey should be mainstreamed with a “sameage” kindergarten class.

SELECT THE ONE BEST ANSWER

1. What characteristic features are not necessary for considering the diagnosis of hypoxemic ischemic encephalopathy?

(A) cord pH lower than 7.1

(B) severe respiratory depression

(C) neonatal seizures

(D) multisystem organ failure

(E) serially abnormal neurologic examination performed in the first 72 hours

2. What types of associated neurodevelopmental disorders rarely accompany CP attributed to hypoxemic ischemic encephalopathy?

(A) epilepsy

(B) mental retardation

(C) learning disability

(D) hearing impairment

(E) feeding disability

3. If a child with CP has a hearing impairment, what is least likely to contribute to the hearing loss phenotype?

(A) peak bilirubin of 15 mg/dL in the newborn period requiring phototherapy for 24 hours

(B) family history of early childhood hearing loss

(C) gray forelock in his grandmother

(D) use of extracorporeal membrane oxygenation (ECMO) for persistent fetal circulation after meconium aspiration syndrome

(E) all of the above are likely to contribute to the hearing impairment

4. If audiologic testing at 10 months revealed a severe and possibly profound bilateral hearing loss with mild abnormalities on tympanometry and the child had no motor or developmental delays, all of the following developmental communication outcomes are likely except

(A) ability to learn sign language

(B) difficulty in learning oral language compared with non–hearing-impaired peers

(C) no speech delay, if the middle ear abnormality is corrected

(D) recognition of spoken words, if cochlear implantation surgery has taken place

(E) A and C are both exceptions

5. When aided binaurally by hearing aids and when given intensive speech/language therapy and audiologic training, increased attention to sound is noted. A follow-up audiogram reveals aided responses in the mild range at 250 Hz and moderate at 500 to 4000 Hz. What might be the consequences of improved speech recognition?

(A) turning to loud sounds

(B) immediately beginning to talk in words

(C) learning to say some single-word approximations

(D) imitating the sounds that animals make

(E) beginning to like the music in a children’s television show

6. Each of the following first-trimester illnesses are commonly associated with hearing loss in the newborn except

(A) toxoplasmosis

(B) CMV

(C) syphilis

(D) rubella

(E) influenza A

7. All of the following syndromes are associated with severe sensorineural hearing loss except

(A) Klinefelter syndrome

(B) Waardenburg syndrome

(C) Hurler syndrome

(D) Usher syndrome

(E) prolonged QT syndrome

8. All of the following diagnostic tools may be helpful in identifying the etiology of hearing loss except

(A) computed tomography (CT) scan of temporal bones

(B) molecular test of connexin-26 mutations

(C) dilated funduscopic examination

(D) electrocardiogram (ECG)

(E) pituitary function tests

9. Of the following family actions, which is least likely to be helpful?

(A) having all family members learn sign language

(B) sending child to an out-of-state residential school

(C) enrolling child in Early Intervention

(D) testing other adult family members

(E) exploring options for cochlear implants

10. When using a touch talker, what output by Casey might indicate that he is above average in developmental skills?

(A) correctly identifying colors

(B) correctly naming shapes

(C) knowing the next word in a song

(D) typing his full name and phone number

(E) none of the above

11. What are the appropriate support services at kindergarten entry that are included in IDEA 1997 (Individual with Disability Education Act), the federal law specifying evaluation and support for children with disabilities?

(A) wheelchair bus transportation

(B) augmentative communication services

(C) adapted physical education

(D) classroom aide

(E) all of the above

12. All of the following are key features of IDEA 1997 except

(A) free public education

(B) least restrictive environment

(C) rehabilitation services that increase a child’s ability to learn

(D) no modifications during standardized testing

(E) no exceptions; all of the above are key features

13. At the age of 5 years, Casey can count to 20, knows the alphabet, can match sounds with letters, and loves books like The Cat in the Hat. All of the following are reasonable short-term goals for Casey except

(A) learning to read

(B) learning addition and subtraction

(C) learning to walk

(D) going to adaptive aquatics

(E) A and D

14. The least important goals for Casey in kindergarten include

(A) learning to take turns in groups

(B) following the teacher’s directions

(C) making friends

(D) learning how to write with a pencil in cursive

(E) B and C

ANSWERS

1. (A) Casey survived an unanticipated catastrophic event. It is important to realize that both the lay public and the American legal system often think that all at-risk obstetric events can be known and effectively prevented and that all neurologic sequelae result in total disability. To attribute CP clinically to hypoxemia and ischemia, there must be a clustering of neonatal indicators, such as blood pH less than 7 and neonatal respiratory depression, as well as associated disorders, such as neonatal seizures and organ dysfunction (cardiac, renal, bone marrow, hepatic) accompanied by sequentially abnormal neurologic examinations.

2. (C) Although Casey had severe motor sequelae, he was spared major cognitive, visual, auditory, and learning sequelae.

3. (A) Family history, ECMO, and Mendelian disorders like Waardenburg syndrome (partial albinism, medial displacement of inner canthi, and deafness in 25% follows autosomal dominant inheritance) are known etiologies for congenital hearing loss.

4. (C) Mild tympanographic abnormalities do not cause hearing loss of more than 70 db. Children with severe to profound hearing loss can learn signs or recognize some speech with cochlear implants. They have delays in learning oral language. Although a 25-db hearing loss can occur with persistent middle ear effusion, middle ear surgery alone will not correct the audiogram to normal.

5. (C) Improved speech recognition is initially associated with learning to make speech sounds, especially single words or single-word approximations. A child with moderate hearing loss will turn to loud sounds, imitate sounds of animals, and begin to like children’s songs.

6. (E) Significant sensorineural hearing impairment could be etiologically related to congenital infections, such as rubella, CMV, toxoplasmosis, and syphilis. The peak vulnerability for viral teratogenesis occurs during the first trimester. Embryologically this occurs for the eighth nerve ganglion at 30 days, and cochlear duct and superior colliculus at 16 weeks.

7. (A) Significant sensorineural hearing impairment could be etiologically related to a genetic disorder (prolonged QT, Waardenburg, Usher, hypothyroidism, malformations of the cochlea), geneticmetabolic disorders (Hurler, Cockayne, osteogenesis imperfecta), and molecular disorders (connexin-26 mutations).

8. (E) Pituitary function tests are not indicated for the workup of deafness. However, if growth failure and/or septo-optic dysplasia is present, appropriate endocrine studies are indicated.

9. (B) Infants and toddlers benefit from sign language, Early Intervention, medical and genetic evaluation, and discussions with a pediatric neuro-otologist regarding cochlear implantation.

10. (D) Although 4-year-olds know colors, shapes, and words of songs and rhymes, they do not typically print their names or remember phone numbers until age 5 years.

11. (E) IDEA 97 provides an array of supports for children with disability, including transportation, augmentative communication aids, and both supports and modifications of the curriculum.

12. (D) The Americans with Disability Act provides for appropriate accommodations during testing. IDEA provides for free appropriate public education in the least restrictive environment with supports necessary to access learning.

13. (C) Children who are unable to sit, crawl, or pull to stand at age 5 years are unlikely to walk. All children who can sit at age 2 years can walk. Many children who sit at 4 years can ultimately walk. Casey did not sit at age 2 or 4 years.

14. (D) Casey’s motor control allows him to access switches but not manipulate objects. He will not be able to manipulate crayons if he cannot manipulate common objects like spoons.

Current public school law provides modifications and supports so that Casey can optimize his participation in learning activities with peers. His mother is appropriately ahead of the school system in her request for appropriate learning and educational supports.

The key developmental issue is whether or not the child can hear some speech with amplification. If he cannot, then total communication or coordination of cochlear implantations with intense aural rehabilitation is required.


SUGGESTED READING

Cheney PD, Palmer FB. Cerebral palsy. Ment Retard Dev Disabil Res Rev. 1997;3:109-219.

Gifford KA, Holmes MG, Berstein HH. Hearing loss in children. Pediatr Rev. 2009;30(6):207-215.

Nelson KB. The epidemiology of cerebral palsy in term infants. Ment Retard Dev Disabil Res Rev. 2002;8:146-150.

Palmer FB, Hoon AH. Cerebral Palsy. In: Augustyn M, Zuckerman B, Caronna EB, eds. Developmental and Behavioral Pediatrics: A Handbook for Primary Care, Philadelphia, PA: Lippincott, Williams & Wilkins; 2011:164-171.

Straub K, Orbutz JE. Effects of cerebral palsy on neuropsychological function. J Dev Phys Disabil. 2009;21(2):153-167.

Willis LM, Willis, KE. Hearing Loss and Deafness. In: Augustyn M, Zuckerman B, Caronna EB, eds. Developmental and Behavioral Pediatrics: A Handbook for Primary Care, Philadelphia, PA: Lippincott, Williams & Wilkins; 2011:242-249.

CASE 24: A 1-YEAR-OLD WITH EARLY HANDEDNESS

A 1-year-old boy named Adam presents with motor delay at a physical examination with a new doctor. The mother reports that he has been “left-handed” since 6 months of age. The mother worries that Adam is not able to do the things his older brother was able to do at a similar age.

Adam weighed 6 pounds at birth and was born at 38 weeks’ gestational age. There were no prenatal, perinatal, or postnatal concerns except for his motor delays. Records from his previous doctor note that a strong startle reflex (Moro) was elicited on several occasions in the first 2 months of life.

On physical examination, among other things, you note that his right hand is slightly smaller than his left. He smiles symmetrically. He is able to sit but when pushed to his right, he falls. When prone, his right arm cannot do a marine pushup. In vertical suspension, he weight-bears on his legs. His lower extremity reflexes and tone are normal. There are no birthmarks.

SELECT THE ONE BEST ANSWER

1. What other examination findings might be present?

(A) ease with pronation and supination of the right arm

(B) ease transferring across the midline to take an object from the left hand

(C) difficulty doing a pincer with the right hand

(D) inability to finger-feed with his left hand

(E) C and D

2. What type of motor disorder might this be?

(A) diplegic CP

(B) brachial plexus palsy

(C) hemiplegic CP

(D) Sturge-Weber syndrome

(E) none of the above

3. All of the following supportive tests are indicated except

(A) MRI of brain

(B) electroencephalograph (EEG)

(C) Wood’s lamp examination

(D) urine culture for CMV

(E) plasma amino acid determination

4. Adam’s mother asks you if the MRI and EEG are being ordered to make sure that Adam doesn’t have a brain tumor. What should you tell her?

(A) the reason we are ordering the MRI is to make sure there is no brain tumor; she is correct

(B) the reason we are ordering an MRI is to understand if there are differences between the right and left sides of Adam’s brain

(C) we are trying to find a brain lesion that could benefit from neurosurgery

(D) if the EEG reveals a focal discharge, then we can treat with anticonvulsants and not worry about motor delay

(E) all of the above

5. Diagnostic studies are done. Adam’s MRI reveals a small left frontal porencephalic cyst. An EEG reveals no seizure activity. Plasma amino acids are normal. Wood’s lamp examination reveals no depigmented macules. An adult neurologist who is a family friend states there has been brain damage that is permanent and nothing can be done. Adam’s mother calls your office in crisis. Which of the following is true?

(A) all children with hemiplegic CP learn to walk

(B) if the lesion involves the left hemisphere, there is poor prognosis for speech

(C) if seizures occur, they are severe

(D) there may be difficulty with both visual fields

(E) Adam will require residential placement

6. Adam’s mother read that hyperbaric oxygen treatments could help children with brain injury. She asks you to write a letter justifying this treatment to the insurance company. The responsibilities of primary care physicians to families with children with hemiplegic CP include

(A) Early Intervention referral

(B) intensive physical therapy (PT) to ensure walking

(C) orthopedic referral for consideration of inhibitive casting of the right upper extremity

(D) writing letters to the insurance companies/public aid to obtain authorization for hyperbaric oxygen treatments

(E) A and C

7. At the age of 8 years, Adam’s intelligence was reevaluated using the Stanford-Binet Intelligence Scale IV Edition. The test resulted in an IQ of 42 (normal 100 ± 15). On the Vineland Adaptive Behavior Scales, he is at a 3- to 4-year developmental level. His articulation skills were at a 31/2-year level. His receptive language skills were at a 41/2-year level and his expressive language skills were at a 31/2-year level. What is Adam’s developmental diagnosis?

(A) mild mental retardation

(B) moderate mental retardation

(C) severe mental retardation

(D) learning disability

(E) none of the above

Questions 8 through 34. Prognostic Belief Scale. Based on the information provided in question 7, use the following probabilities to indicate the degree to which Adam will be able to perform the skills listed below when he matures into adulthood.

(A) 10% or less

(B) 25%

(C) 50%

(D) 90%

(E) 100%

8. Dress and use the toilet independently

9. Enter into a marriage contract

10. Drink from a cup independently

11. Cook a meal unsupervised

12. Raise children

13. Find his own way in unfamiliar surroundings

14. Use a lock and key

15. Indicate symptoms verbally to a physician

16. Budget for monthly expenses

17. Eat with utensils

18. Do his own laundry

19. Make change for a dollar

20. Tell time

21. Have an intimate sexual relationship

22. Fill out a job application

23. Participate in a simple conversation

24. Use public transportation independently

25. Recognize traffic and exit signs

26. Schedule daily activities independently

27. Use a pay telephone

28. Choose appropriate clothes to wear

29. Follow a national news event

30. Act appropriately toward strangers

31. Sustain a friendship with another person

32. Anticipate hazards appropriately

33. Follow a one-stage command

34. Address two people by name

35. Based on the information in question 7, by adulthood, where would Adam most likely live?

(A) in an unsupervised apartment

(B) in a supervised apartment

(C) in a group home

(D) in an institution

(E) in a nursing home

36. Based on the information in question 7, by adulthood, where would Adam most likely work?

(A) in a skilled, competitive employment

(B) in an unskilled, competitive employment

(C) in a supervised, full-time employment

(D) in a supervised, part-time employment

(E) Adam will be incapable of any productive employment

ANSWERS

1. (C) Children with preference for one hand early in childhood are often indicating significant motor control abnormalities. This child would not be doing a pincer (a 9- to 11-month developmental skill) with his right hand.

2. (C) Children with a brachial plexus palsy do not have a symmetric Moro reflex. Children with diplegic CP have indicators of lower extremity spasticity. Children with Sturge-Weber syndrome have facial vascular abnormalities (facial nevus flammeus). Strong hand preference with motor delay on the uninvolved side indicates hemiplegic CP.

3. (D) More than 50% of congenital hemiplegia is of prenatal onset. MRI will often reveal a CNS dysgenesis or a porencephalic cyst. EEG might yield evidence of a partial paroxysmal abnormality. A Wood’s lamp examination will help rule out tuberous sclerosis complex. Plasma amino acids might indicate an increased methionine level, which can be a feature of homocystinuria. In homocystinuria there are increased risks of vascular events, including stroke, dislocated lens, osteoporosis, and mental retardation. Urine for CMV would not be helpful at 1 year because it would not diagnose or exclude congenital CMV.

4. (B) Adam has congenital hemiplegic CP. This may be associated with an intrauterine vascular event, especially the death of a co-twin. The purpose of neuroimaging is to assess if his CNS structures might be asymmetric.

5. (A) The outcome for children with hemiplegic CP in sequential studies involving large cohorts is 100% for ambulation. There is a range of cognitive outcomes based on the extent of the hemispheric lesion. There is enough hemispheric plasticity that language emerges consistent with cognitive skills. Seizures, if they occur, are readily controllable. If there are visual field problems, they are unilateral. Residential placement is neither in Adam’s best interest nor available.

6. (E) Given Adam’s lesion, he will benefit from Early Intervention and quality early childhood educational experiences. Hyperbaric oxygen has not improved motor or functional outcomes in children in randomized clinical trials. Complications of hyperbaric oxygen include perforated ear drums, middle ear effusions, and parental expense. Adam will walk regardless of the intensity of PT. Hyperbaric oxygen is not medically indicated.

7. (B) Adam’s scores are more than 3 standard deviations below the mean, which indicates moderate mental retardation. Table 24-1 indicates the developmental levels of mental retardation, the support required, and the outcomes at key ages.

TABLE 24-1. Cognitive Adaptive Intellectual Disability

 

DEGREE OF COGNITIVE IMPAIRMENT

PREVALENCE AND CHARACTERISTIC FEATURES

COMMUNICATION AND ACTIVITIES OF DAILY LIVING (ADL)

 

Mild: IQ 55-69 with concurrent adaptive disability and need for intermittent/limited supports.

20-30/1000. Detected most often in kindergarten and early elementary school years. Major risk factors include poverty and low maternal educational achievement.

Independent in communication and all ADL. Capable of reading and writing to fourth- or fifth-grade level. Some resources required to maximize employment options and independent living.

Moderate: IQ 40-54 with concurrent adaptive disability and need for limited/extensive supports.

5/1000. Detected most often in preschool years as language delay. Major known etiologies include chromosome disorders and genetic syndromes.

Independent in all ADL. Communicative of basic needs; able to learn functional-survival academic skills. Will have a spectrum of housing and employment options requiring some supervision.

Severe: IQ 25-39 with concurrent adaptive disability and need for extensive/pervasive supports.

3/1000. Identified before age 3 years. High rates of genetic, biomedical, and neurologic etiologies.

Able to walk. Limited communication. Difficulty with independence in all ADL although can master many basics. Range of behavior difficulties includes terrible 2s, autistic spectrum, hyperactivity. Requires much family support, respite, and creative caretaking. Benefits from day treatment and recreational programs.

Profound: IQ <25 with concurrent adaptive disability and need for pervasive supports and specialized health services.

1-2/1000. Identified prior to age 2 years. Highest rates of genetic, biomedical, and neurologic etiologies.

Most without CP walk. Some can be toilet trained. Need supervision or assistance for most ADL. May be medically frail (eg, epilepsy, aspiration). May require both nursing and humanistic interventions.

 

Abbreviations: ADL, activities of daily living; CP, cerebral palsy.

8. (E) 100% can dress and use the toilet independently

9. (A) Fewer than 10% can enter into a marriage contract

10. (E) 100% can drink from a cup independently

11. (C) 50% can cook a meal unsupervised

12. (A) Fewer than 10% can raise children

13. (A) Fewer than 10% can find their own way in unfamiliar surroundings

14. (C) 50% can use a lock and key

15. (C) 50% can indicate symptoms verbally to a physician

16. (A) Fewer than 10% can budget for monthly expenses

17. (E) 100% can eat with utensils

18. (C) 50% can do their own laundry

19. (A) Fewer than 10% can make change for a dollar

20. (B) 25% can tell time

21. (B) 25% can have an intimate sexual relationship

22. (A) Fewer than 10% can fill out a job application

23. (E) 100% can participate in a simple conversation

24. (D) 90% can use public transportation independently

25. (C) 50% can recognize traffic and exit signs

26. (B) 25% can schedule daily activities independently

27. (B) 25% can use a pay telephone

28. (D) 90% can choose appropriate clothes to wear

29. (C) 50% can follow a national news event

30. (D) 90% can act appropriately toward strangers

31. (E) 100% can sustain a friendship with another person

32. (C) 50% can anticipate hazards appropriately

33. (E) 100% can follow a one-stage command

34. (E) 100% can address two people by name

Adam’s developmental diagnosis over time became one of moderate mental retardation. He has a less than 10% chance of attaining functional literacy but will be independent in self-care, such as eating, dressing, bathing, and continency. Adam will be challenged by adult responsibilities, including marriage, child rearing, budgeting, and driving (Table 24-1).

35. (B) Adam does not require a nursing home. Current social policy has not resulted in any new admissions to institutions. Adam’s most probable living arrangement will be in a supervised apartment.

36. (D) Adam’s most likely employment will be supervised and part time.


SUGGESTED READING

Accardo PJ, Capute AJ. Mental retardation. In: Capute AJ, Accardo PJ, eds. Developmental Disabilities in Infancy and Childhood. Vol 2. 2nd ed. Baltimore, MD: Paul H. Brookes; 1996.

Batshaw ML, Shapiro B. Mental retardation. In: Batshaw ML, ed. Children with Disabilities. 6th ed. Baltimore, MD: Paul H. Brookes; 2007.

Coulter DL. Intellectual Disability: Diagnostic Evaluation. In: Augustyn M, Zuckerman B, Caronna EB, eds. Developmental and Behavioral Pediatrics: A Handbook for Primary Care, Philadelphia, PA: Lippincott, Williams & Wilkins; 2011:254-257.

Palmer FB, Hoon AH. Cerebral Palsy. In: Augustyn M, Zuckerman B, Caronna EB, eds. Developmental and Behavioral Pediatrics: A Handbook for Primary Care, Philadelphia, PA: Lippincott, Williams & Wilkins; 2011:164-171.

CASE 25: A CHILD WITH SPINA BIFIDA

A newborn girl named Anita presents with a lumbar meningomyelocele, noted in the delivery room of a community hospital. Mom is a 29-year-old woman with two normal children. The pregnancy was uneventful. Because of failure of labor to progress after 24 hours, a cesarean delivery was performed using general anesthesia. You are summoned by your emergency beeper and arrive 15 minutes later to the hospital obstetric operative delivery room. The father is in the delivery room looking pale and tearful.

On physical examination, Anita is 6 pounds, robust and has a vigorous cry, a good urine stream, spontaneous knee flexion and extension, and club feet. The delivery room nurses have applied a sterile dressing to Anita’s back.

SELECT THE ONE BEST ANSWER

1. How will you communicate your initial concerns to Anita’s father?

(A) I am concerned that there might be something seriously wrong with Anita’s brain

(B) if Anita’s mother had not run out of prenatal vitamins, this would not have happened

(C) Anita seems to have had a disorder impacting on her spinal cord; even though it looks very abnormal, specialists in pediatric neurosurgery can assist us in management

(D) we should make Anita comfortable but not do anything heroic

(E) you do not communicate any initial concerns; allow the neurosurgeon to evaluate and talk to Anita’s father

2. Known etiologies or associations of neural tube disorders include all of the following except

(A) taking prenatal vitamins before conception

(B) chromosomal disorders

(C) maternal anticonvulsants

(D) first-trimester hyperthermia

(E) multiple malformation syndromes

3. You inform both parents together of your concerns. Which is the most appropriate statement?

(A) Anita has spina bifida and will be severely handicapped

(B) I don’t know how to fix this

(C) the mother might have drunk too much alcohol in early pregnancy

(D) the mother must have had unrecognized diabetes in pregnancy

(E) we are going to transfer Anita to a tertiary care center where specialists will help

4. All of the following pertinent initial findings are reassuring except

(A) the anterior fontanelle is flat

(B) nystagmus is present

(C) there is a vigorous Moro reflex

(D) there is decreased movement of the feet

(E) B and D

5. Associated findings or complications of spina bifida include all of the following except

(A) hydrocephalus

(B) neurogenic bowel and bladder

(C) severe mental retardation

(D) kyphoscoliosis

(E) difficulty with lower extremity sensation

6. At age 41/2, Anita arrives in your office with an aluminum lightweight wheelchair, which she expertly self-propels down the hall. She locks her brakes and, with lightweight braces and crutches, walks to a small table. Which of the following is true?

(A) Anita will not need a wheelchair as a teenager

(B) Anita will learn to do her own bladder catheterization

(C) Anita has no risk for a shunt malfunction

(D) Anita is severely retarded

(E) Anita does not need to take special latex precautions if she has not had a latex allergic reaction

7. In kindergarten, Anita is able to walk with braces and a walker. She sings songs, speaks clearly in 5- or 6-word sentences, and knows colors, the alphabet, and counting. She is able to draw a circle and a cross but not a triangle. She is left-handed. She can construct a 3-piece bridge and a 5-piece gate with blocks. Her drawing of a person consists of a head with two stick legs. She is not yet toilet trained. Anita’s developmental assessment is

(A) severe mental retardation

(B) severe reading disability

(C) mild perceptual delays

(D) pathologic left-handedness

(E) poor self-image

8. All of the following are signs of developmental readiness for daytime toilet training except

(A) can pull pants off

(B) shows awareness of wetness

(C) when the parent sits the child on the toilet every 2 hours, will urinate 25% or more of the time

(D) understands cause and effect

(E) can follow 2-step commands and speaks in 2-word phrases

9. All of the following statements about toileting are true except

(A) stools should be treated with disgust

(B) the most important outcome is the child’s sense of self-esteem and task-mastery

(C) it is wrong to fight, punish, shame, or nag

(D) girls achieve toileting earlier than boys

(E) imitating parents and siblings is helpful

10. Which of the following statements is true?

(A) all children with Down syndrome require diapers in kindergarten

(B) children with spina bifida cannot learn independent catheterization until adolescence

(C) nocturnal enuresis occurs in 25% of 4-year-olds

(D) the lowest rate of success for nocturnal enuresis is with alarms

(E) enuresis does not run in families

11. In preadolescents with chronic illness, indicators of low self-esteem include all of the following except

(A) completing a board game even if one is losing

(B) not trying something for fear of failure

(C) acting silly to minimize feeling like a failure

(D) saying, “I can’t do anything right.”

(E) all of the above are indicators of low self-esteem

ANSWERS

1. (C) Anita has a lower lumbar meningomyelocele. Initial management includes keeping the wound sterile and closure by an experienced pediatric neurosurgeon.

Recent advances include the recognition that folate decreases the primary risk of meningomyelocele and recurrence risk in subsequent pregnancies. The goal of a pediatrician is to be supportive of the family while arranging for supportive consultations. Too many fears are raised by not systematically describing spina bifida, its developmental impact, and its management. It is inappropriate to blame the mother for spina bifida.

2. (A) Prenatal vitamins do not cause spina bifida but are preventive for the disorder in a substantial number of individuals. Maternal anticonvulsants (eg, valproate), chromosomal disorders, first-trimester maternal hyperthermia, and Meckel syndrome (cleft, polydactyly, cystic liver and kidneys) are associated with spina bifida.

3. (E) 90% of children with meningomyelocele have hydrocephalus secondary to Arnold Chiari malformations. Hydrocephalus is currently managed with ventriculoperitoneal shunts.

4. (E) Although a vigorous Moro reflex and a flat anterior fontanelle are reassuring, nystagmus and decreased pedal movement reflect brainstem and spinal cord dysfunction.

5. (C) Unless increased intracranial pressure is present or ventriculitis ensues, cognitive impairments are subtle and mild (ie, learning disabilities, slow learner, mild cognitive impairment).

6. (B) Anita is already demonstrating the problemsolving skills of alternative mobility. With training and support, she will learn clean intermittent catheterization techniques. Anita will need a wheelchair as a teenager. She is always at risk for a shunt malfunction. She is not severely retarded. More than a third of children with spina bifida have latex sensitivity. There have been reports of latex anaphylaxis. A latex-free environment is currently recommended for children with spina bifida.

7. (C) Anita has mild perceptual delays reflected in her difficulty drawing a triangle and not completing more details during her attempt to draw a person.

8. (C) Although having some successes on the toilet is comforting, there should be more than 25% success when put on the toilet every 2 hours.

9. (A) Given children’s imaginations and easily provoked fears, stools should not be demeaned but treated in a matter-of-fact manner.

10. (C) Nocturnal enuresis occurs in 25% of 4-yearolds, 10% of 8-year-olds, and 2% of 13-year-olds.

11. (A) Children with low self-esteem, like Anita, often avoid trying something new, act silly, and are selfderogatory. Finishing a game when one is losing reflects a maturity of learning from one’s mistakes.


SUGGESTED READING

Jacobs RA. Myelodysplasia (spina bifida-myelomeningocele). In: Wolraich ML, ed. Disorders of Development and Learning. 3rd ed. Hamilton, Ontario, Canada: BC Decker; 2003:137-174.

Jacobs RA. Spina bifida. In: Rubin IL, Crocker AC, eds. Medical Care for Children and Adults with Developmental Disabilities. 2nd ed. Baltimore, MD: Paul H. Brookes; 2006:139-152.

Sandler A. Living with Spina Bifida: A Guide for Families and Professionals. Chapel Hill, NC: University of North Carolina Press; 1997.

CASE 26: A 3-YEAR-OLD WITH SPEECH DELAY

A 36-month-old boy named Max with developmental delay presents for a 3-year-old physical examination. His mother, Madeleine, is 28 years old. The family has just moved into this area. She reports that Max sat at 9 months and walked at 18 months. He can walk up and down steps, and he kicks and throws a ball. A psychologist’s examination indicated that Max can build a tower of 8 blocks, string 4 beads, and scribble on paper with crayons. He can draw a vertical line but fails to copy a circle. Max began saying single words at 2 years but still has significant immature jargon use and has not yet combined two words into phrases. Max can identify three body parts, point to familiar objects in books (cat, ball, car), and follow simple commands such as “sit down,” “get the doll,” and “come here.” He likes to roll a ball back and forth with his dad, can remove all his clothes, tries to imitate what adults do in chores, and is not toilet trained. The psychologist who evaluated Max 3 months ago told the mother his IQ equivalent was 72 plus or minus 5.

SELECT THE ONE BEST ANSWER

1. The developmental areas most delayed for Max are

(A) motor

(B) speech

(C) language and development

(D) social-emotional

(E) A and D

2. Max’s developmental skills are like those of a

(A) 12-month-old

(B) 18-month-old

(C) 24-month-old

(D) 27-month-old

(E) 30-month-old

3. If a child has a preschool IQ of 67, what will he be like at age 7?

(A) unable to talk in sentences

(B) in diapers

(C) not able to count

(D) just starting school because he was too slow at ages 5-6

(E) attending second grade in his community with special education and resource supports

4. Children with mild mental retardation

(A) have an IQ score more than 2 standard deviations below the mean

(B) do not have adaptive delays

(C) cannot learn to read

(D) cannot participate in mainstream education

(E) are ineligible for Special Olympics

5. Children with severe language disorders (standard scores <60, normal 100 ± 15)

(A) never learn to speak in sentences

(B) cannot learn to read

(C) never have attention deficit hyperactivity disorder (ADHD)

(D) may have 10-point IQ changes if language skills increase

(E) A and B

6. Children with classical autism

(A) do not walk until age 4

(B) cannot learn any self-care skills

(C) have difficulty communicating in sentences and carrying on a conversation

(D) always have challenging behavior

(E) have excellent joint attention at age 12 months

7. The goals of Early Intervention for children with preschool developmental and language delay include all of the following except

(A) family supports

(B) promotion of communication skills

(C) prevention of cognitive decline

(D) promotion of self-care and social skills

(E) A and D

8. At age 11, Max’s mother brings his previous school evaluations

Psychological: At the age of 6 years, 2 months, he was administered the Stanford-Binet Intelligence Scale. The test resulted in a mental age of 4 years, 8 months, equivalent to an IQ of 75.

Speech-Language: At the age of 7 years, 10 months, he was evaluated for speech and language. Mildly to moderately delayed articulation skills at an approximate 4-year mental age were revealed. His receptive skills were at a 5-year mental age. At the same time, his hearing was evaluated and the results indicated that his hearing was normal bilaterally.

Medical History: His history reveals no evidence of seizures, convulsions, or other significant illnesses. His vision is normal. His physical growth has kept him above the 95th percentile.

Academic Functioning: At the age of 7 years, 8 months, he was evaluated in school, where he had been placed in a special education class for children with academic difficulties. His teacher reported that he interacted well with peers, evidenced by his ability to share and work in groups. He could count to 50 but had difficulty remembering sounds associated with letters. In reading, it was reported that he could recognize 15 letters of the alphabet. An assessment of his handwriting skills stated that he could print his first name neatly.

Social History: Max lives with both natural parents and two brothers, age 6 and 8, both of whom have normal intellectual capabilities. His father is employed as a maintenance worker with the highway commission. His mother is not employed outside the home.

What is Max’s developmental diagnosis?

(A) slow learner with borderline intelligence

(B) attention deficit disorder

(C) mild mental retardation

(D) learning disabilities

(E) moderate mental retardation

9. If, at the age of 10, Max reads at a third-grade level, what is his capability for becoming literate (fifthgrade reading level)?

(A) 0%

(B) 50%

(C) 90%

(D) 100%

(E) there is no way to predict

Questions 10 through 29: Young adult prognoses. Use the following probabilities to indicate the degree to which Max will be able to perform the skills listed below when he matures into adulthood.

(A) less than 10%

(B) 25%

(C) 50%

(D) 90%

(E) 100%

10. Enter into a marriage contract

11. Cook a meal unsupervised

12. Raise children

13. Use a lock and key

14. Indicate symptoms verbally to a physician

15. Budget for monthly expenses

16. Do own laundry

17. Make change for a dollar

18. Tell time

19. Have an intimate sexual relationship

20. Fill out a job application

21. Use public transportation independently

22. Recognize traffic and exit signs

23. Schedule daily activities independently

24. Use a pay telephone

25. Choose appropriate clothes to wear

26. Follow a national news event

27. Act appropriately toward strangers

28. Sustain a friendship with another person

29. Anticipate hazards appropriately

30. Vocational Placement: By adulthood, where would Max most likely work?

(A) in skilled, competitive employment

(B) in unskilled, competitive employment

(C) in supervised, full-time employment

(D) in supervised, part-time employment

(E) he would be incapable of any productive employment

ANSWERS

1. (C) Max presented with motor delay followed by challenges in language understanding and use as well as delays in problem-solving and adaptive skills. Children with preschool global developmental delay have standard scores of 2 standard deviations below the mean in two or more areas. They also have delays in communication skills.

2. (C) Twenty-four-month-olds can string beads, imitate strokes, and know body parts.

3. (E) Children with mild mental retardation are toilet trained, talk in sentences, and can count at age 7. All children, whatever the severity of their developmental delays, can attend school from ages 3-21. Max will be attending second grade, but he will require supports.

4. (A) Children with mild mental retardation have IQ scores 2 standard deviations below the mean, with concurrent adaptive delays. They learn to read, and they can participate in both mainstream education services and Special Olympics.

5. (D) Children with severe language disorder can learn to talk in sentences. They also may learn to read. They can have ADHD. Because IQ tests are strongly verbally mediated, as children’s language output improves, their IQ may rise.

6. (C) Children with autism may walk on time but struggle with joint attention. They learn self-care. They may not have severe behavior challenges (aggression, self-injuries). They do have difficulty with language pragmatics (ie, carrying on conversations appropriately).

7. (C) The goals of Early Intervention are to provide quality early child educational experiences that emphasize learning through play, opportunities that promote self-care and adaptive skills, modeling of social skills (circle time, sharing, listening in groups), and promoting communication skills (modeling activities with words, songs, rhymes).

8. (A) A child who was previously tested with an IQ of 75 does not have mild mental retardation (IQ 55-69) or moderate mental retardation (IQ 40-54). He is making progress and does not have a discrepancy between his cognitive, communicative, perceptual, and academic skill areas that are part of the federal definition for learning disability. His teacher and parents have not endorsed classroom or home difficulty with inattention, impulsivity, or motor hyperactivity, thus ruling out an attention deficit disorder. Max’s developmental diagnosis is “slow learner with borderline intelligence (IQ 70-84).”

9. (C) When Max was tested by a school psychologist in first grade, he had below-average intelligence. Subsequent testing revealed both an articulation disorder and difficulty with complex language skills. Many schools using antiquated discrepancy formulas will treat a child with an IQ of 75 as one who cannot achieve basic functional literacy of grade 5 reading skills. Although language-related skills are a challenge for Max, the ability to read out loud and comprehend third-grade material when he is 10 suggests a high probability for basic literacy.

10. (C) 50% can enter into a marriage contract

11. (E) 100% can cook a meal unsupervised

12. (C) 50% can raise children

13. (D) 90% can use a lock and key

14. (E) 100% can indicate symptoms verbally to a physician

15. (D) 90% can budget for monthly expenses

16. (E) 100% can do his own laundry

17. (E) 100% can make change for a dollar

18. (E) 100% can tell time

19. (E) 100% can have an intimate sexual relationship

20. (E) 100% can fill out a job application

21. (E) 100% can use public transportation independently

22. (E) 100% can recognize traffic and exit signs

23. (E) 100% can schedule daily activities independently

24. (E) 100% can use a pay telephone

25. (E) 100% can choose appropriate clothes to wear

26. (E) 100% can follow a national news event

27. (E) 100% can act appropriately toward strangers

28. (E) 100% can sustain a friendship with another person

29. (E) 100% can anticipate hazards appropriately

As an adult, Max will be able to sustain employment; however, his chances of meeting all current requirements for high school will be compromised.

30. (B) He will be able to work many jobs not requiring college experience.


SUGGESTED READING

Aylward GP. Overview of school performance problems. In: Aylward GP, ed. Practitioner’s Guide to Developmental and Psychological Testing. New York, NY: Plenum Medical; 1994:91-103.

Dixon SD, Stein MT, eds. Encounters with Children: Pediatric Behavior and Development. 4th ed. St. Louis, MO: Mosby; 2005.

Illingworth RS. The examination of the older infant and child. In: Illingworth RS, ed. The Development of the Infant and Young Child: Normal and Abnormal. Edinburgh, United Kingdom: Churchill Livingstone; 1987:205-230.

Palmer F, Capute A. Mental retardation. Pediatr Rev. 1994;15:473-479.

Roberts KB. Development and developmental disabilities. In: Roberts KB, ed. Manual of Clinical Problems in Pediatrics. Philadelphia, PA: Lippincott Williams & Wilkins; 2001:96-101. Wolraich ML. Disorders of mental development: general issues.

In: Wolraich ML, ed. Disorders of Development and Learning. 3rd ed. Hamilton, Ontario, Canada: BC Decker; 2003:195-205.

CASE 27: A NEONATE GIRL WITH FLOPPY TONE AND UPWARD-SLANTING EYES

A newborn girl named Amy presents to the evening nurse in the general care nursery with floppy tone and dysmorphic features. She is born full term to a 28-yearold woman who has been pregnant twice and given birth once whose first pregnancy resulted in a healthy daughter. She has delivered a full-term 3-kg girl. Pregnancy, labor, and delivery were all uncomplicated except for a winter flu episode of 48 hours in the first trimester. The obstetrician has told the parents that all went well.

SELECT THE ONE BEST ANSWER

1. What are the physical examination findings that occur in 50% but not in 90% of individuals with Down syndrome?

(A) midface hypoplasia

(B) excess nuchal skin

(C) small ears

(D) central hypotonia

(E) wide space between first and second toes

2. Your examination reveals a clustering of craniofacial dysmorphism, central hypotonia, and a strong Moro. When you come in to discuss your concerns with the family, you should

(A) talk to the father alone

(B) tell the nurse what to say to the mother

(C) talk to both parents and describe what the evaluation and follow-up process will involve

(D) talk to both parents and say that you do not know what to do for children with Down syndrome

(E) describe in detail all that children with Down syndrome cannot do

3. What medical concern listed below is not associated with gastrointestinal (GI) malformations?

(A) oligohydramnios

(B) vomiting after first feed

(C) delayed passage of meconium

(D) choking during feedings

(E) double bubble on abdominal radiograph

4. Which of the following cardiac malformations does not commonly occur in infants with Down syndrome?

(A) atrioventricular canal

(B) tetralogy of Fallot

(C) hypoplastic left heart syndrome (HLHS)

(D) atrial septal defect (ASD)

(E) ventricular septal defect (VSD)

5. Atrioventricular canal defect symptoms frequently include all the following except

(A) constipation

(B) feeding difficulties

(C) difficulty gaining weight

(D) congestive heart failure

(E) excessive sweating

6. The karyotype report is 47XX+21. Cardiology consultation revealed an AV canal defect on echocardiogram. Amy is having difficulty gaining weight. The cardiovascular surgical consultant informed the parents that definitive surgical correction would take place when the child weighs at least 15 pounds. All of the following are acceptable strategies for addressing Amy’s feeding difficulties except

(A) observe breastfeeding and weigh child before and after 20 minutes of feeding

(B) tell mother that children with Down syndrome are difficult to breast-feed

(C) monitor weight using growth charts specific for Down syndrome and have Dad offer pumped breast milk by bottle

(D) add nasogastric feeds at night

(E) none of the above

7. Amy gained weight slowly, but feeding difficulties continued. At age 2 months, she was hospitalized for respiratory syncytial virus (RSV) pneumonitis with congestive heart failure. At age 4 months, pulmonary artery banding took place. Now, at age 6 months, Amy weighs 10 pounds. She has continuous nasal discharge. It takes her 40 minutes to drink 4 ounces of fortified formula. Significant head lag is noted. In prone, Amy does not roll. She likes to put two hands on her bottle during feeding. Amy is in Early Intervention. What is the primary goal of Early Intervention?

(A) vigorous PT to strengthen Amy’s neck muscles

(B) developmental feeding interventions with regular feedback to physicians

(C) hospitalization so that Mom might get some rest

(D) enrollment in a day-care program outside of home

(E) facilitate starting solid foods to maximize weight gain velocity

8. At age 2, Amy is status postsurgical repair of her AV canal defect at 18 months. Since surgery, she has made rapid progress in motor skills with attainment of independent ambulation, more fine motor manipulative play, and increased verbal production of single words and jargon use. She awakes at 1:00 AM and 3:00 AM nightly. She returns to sleep if given a bottle of milk or taken into her parents’ bed. Night awakening often occurs in a toddler with any of the following issues except

(A) difficulty self-soothing

(B) nightmares

(C) sleep-onset disorder

(D) circadian rhythm disorder

(E) seizures secondary to open heart surgery

9. In the daytime, frequent temper tantrums occur, especially during the feeding time of her newborn brother. Temper tantrums should be managed by

(A) discussing in detail what Amy is doing wrong

(B) trying to figure out the exact trigger

(C) putting Amy in her room with the door closed for 30 minutes

(D) giving Amy candy to stop

(E) ignoring them

10. By age 5, Amy successfully completed 3 years of a special preschool attendance. She speaks in short sentences with 50% intelligibility to strangers. She is toilet trained during the day. She can dress with simple pullovers but cannot handle buttons, snaps, or zippers independently. She cannot do her own Velcro sneakers. She is 10% for height and 75% for weight on the Down syndrome growth charts. Her favorite activity is watching Sesame Street and cartoons. All are appropriate goals for mainstreaming in kindergarten except

(A) promoting communication

(B) promoting interaction with typical peers

(C) normalizing IQ

(D) enhancing adaptive skills

(E) providing supports for functional skills

11. At age 5, Amy pushes and bites her brother’s playmates. What suggestions would you make for behavioral interventions for dealing with Amy’s misbehavior around her brother’s friends?

(A) tell Amy “no” and put her in “time-out”

(B) explain in detail why it is wrong to bite

(C) praise her when she does not bite

(D) teach brother how to bite her back

(E) A and C

12. At age 5, Amy rips up art work and topples over board games when her older sister is entertaining friends. What is the best approach for dealing with Amy’s problem behaviors with her older sister and older sister’s friends?

(A) loss of television privileges

(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 B12 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) B12 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.


SUGGESTED READING

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.

CASE 28: AN 8-YEAR-OLD BOY WITH AUTISTIC BEHAVIORS THAT ARE DIFFICULT TO CONTROL

An 8-year-old boy named Joey presents to the office for behavior management problems. He is nonverbal and likes to screech and twirl. He is very active, loves to run on the playground, and rides a 2-wheel bike without training wheels on a safe bike path. He attends a special school and receives speech, occupational therapy, and behavioral management services. He can be redirected from prolonged twirling but likes to put assorted nonfood items in his mouth and suck his thumb. Joey’s parents come to you requesting suggestions for interventions that might help him behave more appropriately, slow down, and not be so active.

SELECT THE ONE BEST ANSWER

1. Joey’s developmental diagnoses include all of the following except

(A) classical autism

(B) mental retardation

(C) pica

(D) CP

(E) all of the above

2. Key medical issues to monitor in nonverbal children include all of the following except

(A) dental caries

(B) blood sugar

(C) sleep disorders

(D) lead levels

(E) nonaccidental injury

3. Which of the following is/are true about thumb sucking?

(A) 80% of infants, 40% of preschoolers, and 10% of children older than 5 years of age suck their thumbs or fingers

(B) thumb sucking can be self-calming; it may occur when the child is tired, frustrated, hungry, or unhappy

(C) if thumb sucking occurs beyond age 4 years, there is increased risk of malocclusion

(D) positive reinforcement techniques (eg, treats, extra story time, stickers, and replacing thumb sucking with squeezing a foam ball) can help manage the behavior

(E) all of the above

4. The mother states that Joey only sleeps 2 hours per night. Useful approaches include which of the following?

(A) melatonin and structured behavioral management of sleep hygiene

(B) structured sleep routines

(C) daytime naps

(D) long-term use of a benzodiazepine

(E) A and B

5. Joey begins to watch wrestling after school. One day the principal calls because Joey has shoved a smaller first-grade girl in the cafeteria and she hit her chin on the edge of the table. The injury required sutures. Which of the following statements about TV is/are true?

(A) hundreds of studies have demonstrated a link between exposure to TV violence and aggressive behavior

(B) TV viewing increases the risk of obesity

(C) TV should not be used as an electronic babysitter

(D) children who are nonverbal and at a preschool mental age may not distinguish the consequences of aggression seen on TV

(E) all of the above

6. One year previously, Joey’s grandfather, who used to take him for long walks after school with a dog and let him choose songs from a jukebox at the drugstore, died. His mother wonders if this is the reason for his nightmares and night terrors. All the following are true about night terrors except

(A) children with night terrors bolt upright from their sleep, are glassy eyed, and may have autonomic signs

(B) night terrors occur during an abrupt transition from stage 4 non–rapid eye movement (REM) sleep to REM sleep

(C) children are really awake during night terrors

(D) at the end of 5-20 minutes of night terrors, the child returns to sleep

(E) all of the above are correct statements

7. All the following are true about nightmares except

(A) nightmares are upsetting dreams

(B) nightmares do not occur during REM sleep

(C) parents should empathize with the child’s fright

(D) parents should comfort the child and stay nearby while there is distress

(E) transitional objects may be helpful

8. Joey continues to wake at night, strip naked, and smear stools on the walls. All of the following are helpful management strategies except

(A) enforcing a toileting regimen during the day

(B) severe punishment

(C) restraining Joey’s hands

(D) emergency behavioral consultation

(E) all of the above are helpful strategies

9. Which of the following specific behavioral interventions may be helpful?

(A) applied positive behavioral analysis

(B) placement in foster care

(C) administration of enemas after school

(D) sleeping with Joey

(E) C and D

ANSWERS

1. (D) Joey has autistic spectrum disorder, moderate mental retardation, and pica.

2. (B) Children who are nonverbal and children with cognitive disabilities are at risk for elevated lead levels from pica and hand-to-mouth behaviors. Because he is not always cooperative and often acts like a younger child, Joey is at risk for dental caries, sleep disorders, and nonaccidental injuries.

3. (E) Eighty percent of infants suck their thumb. Among preschool children, thumb-sucking can be used for self-calming or when a child is frustrated, unhappy, hungry, or tired. After age 4 years, it is associated with malocclusion. Positive reinforcement is a key management technique.

4. (E) Management of Joey’s sleep requires establishing sleep hygiene as well as judicious use of medications with wide safety margins. These include melatonin, as well as a short-term trial of a benzodiazepine. Eliminating daytime naps and getting up at the same time every morning are also important.

5. (E) Increased aggression is seen in preschoolers, school-aged children, or teens exposed to TV violence. TV watching is associated with decreased physical activity and poor food choices. This results in obesity. TV should not be used as an electronic babysitter. Parental vigilance and proactive rulesetting are required in all ages.

6. (C) During night terrors, the child is in REM sleep and not actually awake. Children do not remember the events.

7. (B) Nightmares do occur during REM sleep.

8. (B) Time-ins and time-outs are more appropriate than punishment for decreasing negative behaviors. In applied behavioral analyses, very specific targets are chosen and then shaped through use of discrete trials using appropriate reinforcers.

9. (A) Management of challenging behaviors includes applied behavioral analysis, family supports, and emergency respite services.


SUGGESTED READING

Coronna EB. Autism spectrum disorder. In: Augustyn M, Zuckerman B, Caronna EB, eds. Development and Behavioral Pediatrics: A Handbook for Primary Care. Philadelphia, PA: Lippincott Williams & Wilkins; 2011:134-138.

Howard B. Managing behavior in primary care. In: Augustyn M, Zuckerman B, Caronna EB, eds. Development and Behavioral Pediatrics: A Handbook for Primary Care. Philadelphia, PA: Lippincott Williams & Wilkins; 2011:71-76.

Mindell JA, Owens JA. A Clinical Guide to Pediatric Sleep: Diagnosis and Management of Sleep Problems. 2nd ed. Philadelphia, PA: WB Saunders; 2009.

Towbin K, Mauk J, Batshaw ML. Pervasive developmental disorders. In: Batshaw ML, ed. Children with Disabilities. 6th ed. Baltimore, MD: Paul H. Brookes; 2007.

CASE 29: A 4-YEAR-OLD WHO WAS BORN PREMATURELY

David is a 41/2-year-old boy who attends a Head Start preschool where staff members have requested a comprehensive assessment because they are very concerned about delayed speech, clumsiness, and kindergarten readiness. Specifically, he has poorly articulated sentences and can only be understood by strangers 50% of the time. He is very clingy and very reluctant to interact with other children, preferring to be engaged by adults. When playing in the backyard, he trips frequently. His mother states that he knows his name, age, and colors. He has difficulty following verbal requests, remembering the alphabet, and counting past 10. He has difficulty with dressing, using a fork, and drawing pictures.

David was born prematurely at 32 weeks’ gestation with a birthweight of 1800 g. Apgar scores were 3 and 7. David’s mother and father did not finish high school.

SELECT THE ONE BEST ANSWER

1. David may not go to kindergarten if

(A) his parents elect not to send him

(B) he cannot talk clearly

(C) he walks down steps, 2 feet on each

(D) he occasionally needs to be reminded to use the bathroom

(E) he is considered immature

2. Developmental disorders common after prematurity include all the following except

(A) perceptual delays

(B) language delays

(C) learning disabilities

(D) attention deficit disorder

(E) autistic spectrum disorder

3. The least common reason for a child to repeat kindergarten is

(A) developmental delay

(B) ADHD, inattentive type, in a girl

(C) treatment for lead poisoning

(D) parent with difficulty learning to read

(E) frequent tardiness or absences because of asthma

4. Major reasons boys have difficulty in reading are

(A) high rates of mental retardation

(B) high rates of language, learning, and attention difficulties

(C) they like sports

(D) they misbehave and get into fights

(E) A, B, and D

5. David’s grandmother has wondered whether David might have ADHD or be mildly retarded like her brother who also was premature. Additional family pedigree history concerning learning, behavioral, and school performance of the following individuals will all be helpful except information about David’s

(A) parents

(B) uncles and aunts

(C) grandparents

(D) adopted cousin

(E) all of the above (none of the information will be helpful)

6. David has an uncle and two cousins who experienced delayed language development. Your developmental assessment finds that David runs clumsily, does not describe what he would do if he were tired or thirsty, has speech that is understandable to you 50% of the time, pedals a tricycle, balances briefly on one foot, follows 2-step directions quickly but needs to have the second step repeated, knows three of five colors, counts to 5, makes some mistakes when reciting the alphabet, and can draw a picture of a boy that includes a head and legs but not face, trunk, or arms. David feeds himself independently, needs assistance with zippers, and reminders to use the bathroom. Based on this information, what is most likely David’s type of developmental disorder?

(A) mental retardation

(B) CP

(C) severe hearing loss

(D) oppositional defiant disorder (ODD)

(E) developmental language disorder

7. During his kindergarten year David is considered very active and unable to sit still. His parents report that his favorite activities are to watch cartoons and play video games. Components of your initial assessment might include all of the following except

(A) having his mother fill out a behavioral rating scale for attention deficit, hyperactivity, and conduct

(B) having his classroom teacher fill out a rating scale for attention deficit, hyperactivity, and conduct

(C) having the parents read a brochure about attention and learning problems

(D) ordering an EEG to rule out a seizure disorder

(E) having his full-time babysitter fill out a behavioral rating scale for attention deficit, hyperactivity, and conduct

8. Both his mother and classroom teacher endorse that David is hyperactive and oppositional, which is systematically impacting his classroom and home successes. Management options now include all of the following except

(A) trial of stimulant medications

(B) 504 school plan for behavior supports

(C) teacher instituting an appropriate behavior management plan

(D) expulsion from school until he can control his behaviors

(E) all of the above are good management options

9. David is better able to sit still and pay attention, but he continues to have difficulties on the playground and gets into frequent fights. The school requests that the family discuss with you whether a different medicine should be used. Important information to obtain includes which of the following?

(A) frequency of fights

(B) presence of aggression toward parents

(C) presence of aggression toward brother

(D) David’s description of the events

(E) all of the above

10. David states that he gets into fights with only one other child on the playground. That child is considered a bully by several other classmates. David has several friends in the neighborhood, attends church regularly, and sings in the choir. He is kind to the dog. He has never been accused of stealing. Indicators of conduct disorder include all of the following except

(A) lying

(B) stealing

(C) having a sense of remorse

(D) torturing animals

(E) A and B

11. David struggles with learning sounds associated with letters and recognizing words. At the end of first grade, his teacher says he is a nonreader and cannot learn in the regular classroom. You should do all of the following except

(A) insist on a psychoeducational assessment of strengths, difficulties, and academic achievement

(B) agree to repeating a grade

(C) observe David’s attempt to read a picture book

(D) make sure tutoring supports are implemented at school and home

(E) B and D

ANSWERS

1. (A) Developmental delays in speech, motor coordination, toileting accidents, or immaturity are not reasons to delay kindergarten. Schools must accommodate children with these impairments both through individual educational support and accommodations, such as an aide, reminders, and more time. In many states it is not mandatory to attend kindergarten. Both speech therapy and developmental support will help promote speech intelligibility and developmental maturity. Unless quality, comprehensive, affordable day care is available, it is better not to wait another year without some focused developmental interventions.

2. (E) Approximately 50% of survivors of preterm birth have minor neurodevelopmental impairments, including perceptual, language, learning, and attention disorders. These disorders are more common than CP and warrant both surveillance and proactive management by pediatricians. Autistic spectrum disorders have not been associated with prematurity unless there has been a congenital malformation (eg, Charge, Moebius), congenital infection (eg, rubella), or severe retinopathy of prematurity (ROP) with unfavorable visual outcome.

3. (B) ADHD, inattentive type, often presents after age 8 years and thus is not a reason for repeating kindergarten. Developmental delays are often inappropriately managed by grade repetition instead of receiving a comprehensive assessment and appropriate management plan. Children with high lead levels may have both developmental delay and ADHD. These should be managed with appropriate educational supports and interventions to lower the lead level and prevent reexposure. Children whose parents have had difficulty learning to read require appropriate in-school and after-school supports for reading. In addition, adult literacy support can help both parent and child. An asthma action plan should have as its goals control of nocturnal symptoms, including those that disrupt sleep, and a school-based management plan that does not lead to loss of classroom time.

4. (E) Males have higher rates of mild mental retardation and higher rates of language, attentional, and behavioral difficulties. Some of this is because of X-linked vulnerabilities. Some is because more disruptive behaviors result in suspension and loss of classroom time. Some is also a result of having ADHD with comorbidities in language processing and executive functioning skills helpful for school success. Recent data, however, suggest that children with early identified reading disorders can be helped with interventions that enhance phonological awareness.

5. (D) If immediate family members have not completed high school, this increases David’s risk for not having academic success. Maternal education is strongly correlated with educational success. If there is a pattern of male educational underachievement, then aggressive early learning strategies are required. Information about David’s adopted cousin will not aid in understanding David’s genetic and multifactorial risk for educational underachievement.

6. (E) David has some mild delays in language, coordination, and sequencing. He is at risk for learning disabilities and ADHD. David does not have CP because he is running and pedaling a trike. He does not have mental retardation because his core developmental skills suggest that he is functioning at a 3.5- to 4-year old developmental level. David’s language performance does not suggest a severe hearing loss (>70 db), but audiologic assessment is required to rule out a mild to moderate loss. David’s behaviors are active not oppositional. His rate of language performance is consistent with a developmental language disorder.

7. (D) EEGs are not routinely indicated for children with ADHD. Children with staring spells, automatisms, and a family history of absence seizures are at increased risk for petit mal seizures. In children not sitting still, both parents and teachers should provide the physician with behavioral ratings for attention deficit, hyperactivity, conduct, and learning. More than one caregiver (teacher for school, after-care adults for after school) should give feedback using an instrument like the Vanderbilt or Connor Scales.

8. (D) Children with ADHD and behavioral challenges require a behavioral management strategy for difficult behaviors. Both his mother and classroom teacher provide evidence that David is hyperactive and oppositional, which is systematically impacting his classroom and home successes. Management options for children with ADHD and ODD include a combination of stimulant medication, behavioral management plan at school and at home, and a 504 plan for appropriate accommodation of David’s impulsive behavior. These should be proactively implemented and if there continue to be concerns, both an Individualized Education Program (IEP) intervention and counseling interventions are required. David can be expelled from school if he brings a weapon or sells drugs. Pushing, shoving, noncompliance, and mouthing off are not indications for expulsion.

9. (E) Aggression at frequent intervals and toward multiple parties with no sense of remorse indicates a need for more sophisticated management strategies than expulsion. David is better able to sit still and pay attention, but he continues to have difficulties on the playground and gets into frequent fights. Hearing David’s description of the events, explicitly probing the presence of bullying at home and at school, and determining behavioral contracting that leads to performance of school work but loss of privileges is required. Stimulant medications should continue to be used but not expected to cure David of all behavioral problems.

10. (C) Children with conduct disorders break rules in multiple settings, including lying, stealing, and mistreating animals. They often do not have a sense of remorse. David’s history is not consistent with conduct disorders but is consistent with ADHD and being bullied. Specific schoolwide interventions on the playground, bus, cafeteria, and gym need to be implemented as well as a mechanism to ensure David’s safety.

11. (B) Most children with learning, attention, and behavioral challenges require extra supports and resources. Repeating a grade is not sufficient. The pediatrician should observe David read. He should put in writing immediately to the school a request that David undergo a complete psychoeducational assessment of strengths, difficulties, and academic achievement. The pediatrician should be aware of both educational advocacy and tutoring supports that can be available to David and help the family access tutoring supports after school.


SUGGESTED READING

Aylward GP. Overview of evaluation considerations. In: Aylward GP, ed. Practitioner’s Guide to Developmental and Psychological Testing. New York, NY: Plenum Medical; 1994:15-50.

Coplan J. Language delays. In: Parker S, Zuckerman B, Augustyn >M, eds. Development and Behavioral Pediatrics: A Handbook for Primary Care. Philadelphia, PA: Lippincott Williams & Wilkins; 2005:222-226.

Goldson E. Developmental consequences of prematurity. In: Wolraich ML, ed. Disorders of Development and Learning. 3rd ed. Hamilton, Ontario, Canada: BC Decker; 2003:345-360.

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

Owens JA. Sleep problems. In: Augustyn M, Zuckerman B, Caronna EB, eds. Development and Behavioral Pediatrics: A Handbook for Primary Care. Philadelphia, PA: Lippincott Williams & Wilkins; 2011:355-359.

Parker S, Hironaka LK. Attention-Deficit Hyperactivity Disorder. In: Augustyn M, Zuckerman B, Caronna EB, eds. Development and Behavioral Pediatrics: A Handbook for Primary Care. Philadelphia, PA: Lippincott Williams & Wilkins; 2011:129-133.

Wodey KA, Wolraich ML. Attention deficit hyperactivity disorder. In: Wolraich ML, ed. Disorders of Development and Learning. 3rd ed. Hamilton, Ontario, Canada: BC Decker; 2003:311-328.

CASE 30: AN 8-YEAR-OLD BOY WITH LOSS OF MILESTONES

TJ is an 8-year-old boy who, until the age of 2 years, was developing normally. At that age, however, he stopped talking and began to separate himself socially, preferring to play by himself. TJ’s pediatrician diagnosed the condition as autism. At age 5, TJ began experiencing seizures. He was treated with anticonvulsants including valproate and carbamazepine. He began to have difficulty with his gait, feeding himself, and dressing himself. Neurologic examination revealed diffuse spasticity, gait ataxia, and tremor during fine motor tasks. Urgent pediatric neurologic and genetic consultation took place. A cranial MRI showed leukodystrophy with extensive white matter abnormalities. Genetic, molecular, and biochemical analyses revealed adrenal leukodystrophy.

SELECT THE ONE BEST ANSWER

1. All of the following are key indicators of a more serious problem for TJ except

(A) previous normal development

(B) gain of language skills

(C) new onset of seizures

(D) difficulty with new learning

(E) no exception; all of the above are indicators of a more serious problem

2. All of the following are indicated except

(A) skin fibroblasts for specialized genetic studies

(B) genetic testing of his sister

(C) search for a bone marrow match

(D) measurement of very long chain fatty acids

(E) referral for genetic consultation

3. His parents wonder when TJ can return to school. Which of the following is a reasonable disability accommodation by school staff for TJ’s health condition?

(A) require that he be seizure free

(B) encourage the parents to sign a do not resuscitate (DNR) form

(C) encourage the parents to participate in pediatric hospice

(D) require that he be able to eat in the school cafeteria

(E) require that the parents hire a private duty nurse

ANSWERS

1. (B) Because of his regression, TJ has more than just a developmental disorder. Loss of skills may indicate a CNS structural lesion, a complex epilepsy syndrome (eg, Landau-Kleffner syndrome), or a genetic leukodystrophy. Gain of language skills and preservation of motor skills with well-controlled seizures would be reassuring.

2. (B) A combination of expert neurologic and genetic consultations, as well as quality family supports, is required. Once TJ’s diagnosis is clarified, appropriate genetic testing can be offered to other family members. Needed investigations for leukodystrophy include very long chain fatty acids to rule out Xlinked adrenal leukodystrophy, urine arylsulfatase for metachromatic leukodystrophy, and genetic consultation for systematic and comprehensive biochemical and molecular studies to determine the nature of the process. Once a diagnosis is made, specialized genetic studies on family members and discussion of management options including appropriateness, if available, of enzyme replacement can take place.

3. (C) The support of a pediatric hospice would help family members and school professionals. Schools are required by the Americans with Disabilities Act to serve children with seizures, feeding tubes, and nursing supports. Because children with these disorders may live a decade or more, a combination of school and community supports is required.


SUGGESTED READING

Fenichel GM. Psychomotor retardation and regression. In: Fenichel GM, ed. Clinical Pediatric Neurology: A Signs and Symptoms Approach. 6th ed. Philadelphia, PA: WB Saunders; 2009.

Palfrey JS, Rodman JS. Legislation for the education of children with disabilities. In: Levine MD, Carey Wb, Crocker AC, eds. Developmental-Behavioral Pediatrics. 4th ed. Philadelphia, PA: WB Saunders; 2009.

Roberts KB. Death, dying, and mourning. In: Roberts KB, ed. Manual of Clinical Problems in Pediatrics. Philadelphia, PA: Lippincott Williams & Wilkins; 2001:149-158.

Siegel BS, Trozzi M. Bereavement and loss. In: Augustyn M, Zuckerman B, Caronna EB, eds. Development and Behavioral Pediatrics: A Handbook for Primary Care. Philadelphia, PA: Lippincott Williams & Wilkins; 2011:420-425.

CASE 31: A 3-YEAR-OLD BOY WITH POOR LANGUAGE AND SOCIAL SKILLS

Jason is a 3-year-old boy brought to the doctor for a comprehensive assessment because of lack of language and social development. Specifically, he has only four or five poorly articulated words and no 2-word combinations. He indicates his wants by pointing and grunting. The parents think he understands much more than he expresses. He is very reluctant to interact with other children, preferring to play by himself.

Jason has never traveled outside the United States. He has been in good health. All of his routine labs since birth have been normal.

The mother and father are both college graduates. Jason has an uncle and two cousins who experienced delayed language development and had to attend special residential schools. The cousins had received extensive genetic and metabolic testing with normal results.

On developmental assessment, Jason runs well, pedals a tricycle, balances on one foot, follows directions quickly, points to a variety of body parts on request, copies a circle, builds a tower of 8 cubes easily, and feeds and partially dresses himself.

SELECT THE ONE BEST ANSWER

1. Jason’s differential diagnosis includes

(A) CP

(B) Tourette disorder

(C) blindness from ROP

(D) autistic spectrum disorder

(E) a developmental adjustment because of his mom’s return to work

2. What key developmental disorder is least likely to be part of Jason’s developmental disability?

(A) translocation chromosomal disorder

(B) velocardiofacial syndrome

(C) tuberous sclerosis complex

(D) fragile X syndrome

(E) untreated phenylketonuria (PKU)

3. At school, a picture exchange system is started. Jason is able to express his needs and begins to take turns. Educational practices that may not be helpful for children with autism include which of the following?

(A) structured experiences that promote communication and social skills

(B) intensive patterning

(C) psychotherapy

(D) large-group activities without any demanding tasks

(E) B, C, and D

4. Jason’s mother wonders if special dietary interventions might be helpful. Which of the following statements is/are true?

(A) there is indisputable evidence that in countries where vegetarianism is the dominant practice, there is no autism

(B) children with celiac disease have high rates of autism

(C) children with untreated PKU never get autism

(D) children with autistic behavior and recurrent diarrhea should be evaluated for malabsorption

(E) A and B

5. Jason’s mother is concerned about the effect of immunizations on her son. Which of the following statements is/are true?

(A) children with congenital rubella have high rates of neuro-disability including autism

(B) measles encephalitis does not cause any adverse developmental sequelae

(C) children who experience mild measles do not get subacute sclerosing panencephalitis (SSPE)

(D) mumps does not cause deafness

(E) C and D

6. Jason’s mother wonders if he might benefit from secretin, a GI hormone that she learned about in a TV special. Which of the following is (are) true?

(A) secretin has been approved for use in treating autism

(B) several randomized scientific trials have shown that secretin is not superior to placebo

(C) secretin is only available as a compassionate use medication

(D) the cost of secretin is covered by Medicaid and private insurance

(E) A and D

7. Jason has difficulty shopping or going to a relative’s home. He will scream, bite, and kick. Useful support systems for parents include which of the following?

(A) making no demands on Jason

(B) implementing a behavioral management program

(C) instituting a major tranquilizer

(D) telling the parents he will outgrow it

(E) A and D

8. Jason began to participate in Special Olympics. Potential benefits include

(A) regular physical activity

(B) dental screening through Healthy Smiles

(C) being able to skip gym in high school

(D) mentoring

(E) A, B, and D

9. Key management areas for long-term success for people with autism include which of the following?

(A) increasing positive behaviors

(B) decreasing negative behaviors

(C) teaching social skills

(D) promoting communication and functional skills

(E) all of the above

ANSWERS

1. (D) Jason’s difficulty in communication and social skills may indicate an autistic spectrum disorder. Manifestations of CP include motor delay with abnormal neurologic signs of spasticity, motor control, and posture. Manifestations of Tourette disorder include tics and attentional difficulties. Neither the mother’s behavior in returning to work nor immunizations cause autism. Children with severe visual disabilities can have an autistic spectrum disorder. Jason did not have a severe visual impairment.

2. (E) Major known etiologies for autistic spectrum disorder include fragile X, untreated PKU, sequelae of congenital rubella, chromosomal disorders, genetic malformation disorders, and tuberous sclerosis. If Jason, born in the United States, underwent newborn screening for PKU, it is unlikely that he has that disease. There is a range of developmental and communicative disorders in children with velocardiofacial syndrome (22q-deletion) including autistic spectrum disorders.

3. (E) Key principles of management include special education, family supports, interventions that enhance communication and adaptive skills, and behavioral interventions. Educational practices that are not helpful for children with autistic spectrum disorders include patterning, psychotherapy, and large-group activities without any demands. A comprehensive IEP as well as recreation and after-school supports are the best ways to optimize outcomes.

4. (D) There is autism in India. The overwhelming majority of children with celiac disease do not have autism. More than 50% of children with untreated PKU develop autism. If there are symptoms of growth delay, bloating, retching, diarrhea, or other GI disturbances, then appropriate tests for celiac disease are indicated.

5. (A) Avoidance of vaccines does not eliminate autism and has other untoward consequences (ie, risk of vaccine-preventable disease). Measles can cause both encephalitis and SSPE. Mumps can cause deafness and a spectrum of disabilities.

6. (B) Secretin in several randomized clinical trials has been shown not to benefit children with autism. Secretin has not been approved for use in treating autism. Neither Medicaid nor private insurance cover secretin.

7. (B) Children with autism can benefit from behavioral management. There are several explicit strategies to enhance management outside the home. If these behavioral difficulties are more widespread, then consideration of judicious psychopharmacology and behavioral management is required. For the patient’s family to access certain events, in-home respite services are required.

8. (E) Children in special education can receive both adaptive physical education and after-school Special Olympics training. Individuals in Special Olympics receive health, dental, vision, and hearing screening as well as mentoring and regular physical activity. This does not excuse them from participation in gym or adapted physical education in high school.

9. (E) Behavior management, communication enhancement, including Picture Exchange Communication System (PECS), and social skill training can help children who have autistic spectrum disorders learn. Key management areas for long-term success for people with autism include increasing positive behaviors, decreasing negative behaviors, and teaching social skills. After-school recreation including swimming, bowling, and horseback riding can be helpful. Hobbies, such as animal husbandry, horticulture, and music are also potential resources. Promoting communication and functional skills across home, education, and community settings is important in ongoing management.


SUGGESTED READING

Meyer GA, Batshaw ML. Fragile X. In: Wolraich ML, ed. Disorders of Development and Learning. 3rd ed. Hamilton, Ontario, Canada: BC Decker; 2003:321-332.

Parish JM. Promoting adaptive behavior while addressing challenging behavior. In: Batshaw ML, ed. Children with Disabilities. 6th ed. Baltimore, MD: Paul H. Brookes; 2007.

Ruble LA, Brown S. Pervasive developmental disorders: Autism. In: Wolraich ML, ed. Disorders of Development and Learning. 3rd ed. Hamilton, Ontario, Canada: BC Decker; 2003:249-266.

CASE 32: A 7-YEAR-OLD BOY WITH ADHD FAILS FIRST GRADE

Arnold is a 7-year-old boy who presents with his mother after being told by his school that he needs to repeat first grade. The teacher said he seemed bright but had not learned to read and that he was out of his seat all the time. The school psychologist saw him and reported that his IQ was 112 but that he might have “organic” problems. His mother says she trusts you, knows you are interested in school problems, and is willing to pay you to spend extra time with Arnold. Further discussion reveals that the mother is angry that school problems were not anticipated when you did your 5-year school entry checkup. You note that your nurse had done a Denver Development Screening Test, 2nd ed. (DDST-2), which Arnold passed.

There were no complications of pregnancy, labor, or delivery. You have been following Arnold since infancy with no significant illnesses. In infancy, he had several bouts of otitis media, which responded to medication. His hearing tests have been normal.

SELECT THE ONE BEST ANSWER

1. What developmental screening tests are not indicated before kindergarten entry?

(A) vision

(B) hearing

(C) draw a person

(D) DDST-2

(E) timed running

2. What developmental assessment for children with concerns about kindergarten might be used by a pediatrician?

(A) Capute Scales

(B) Brigance Diagnostic Inventory of Early Development

(C) Pediatric Evaluation of Developmental Skills (PEDS)

(D) Bayley Scales

(E) Kaufman Scales of Early Learning Skills

3. All of the following behavior inventories are helpful for 7-year-olds with concerns about attention and learning at school except

(A) Vanderbilt Behavioral Rating Scales

(B) Child Behavior Checklist (CBCL)

(C) Connors Rating Scales

(D) tests of attachment

(E) no exceptions; all of the above are helpful

4. Which of the following are the most important signs that Arnold may have a learning disability?

(A) the teacher’s concerns about behavior

(B) the discrepancy between IQ and achievement

(C) his difficulty in learning to read in the first grade

(D) a family history of reading difficulty

(E) C and D

5. Which of the following interventions is/are helpful for children with learning disabilities?

(A) repeating grades

(B) phonologic awareness training

(C) avoiding talking books

(D) optometric training

(E) A and D

6. After your initial discussion with Arnold’s mother, history, and general physical examination, Arnold returns for an additional half hour. During this time, which of the following developmental and functional areas related to school achievement is least helpful in your evaluation?

(A) auditory memory skills

(B) visual perceptual skills

(C) developmental coordination skills

(D) oral reading

(E) reading comprehension

7. The mother says she believes sugar and food additives are causing his problem. What would be least helpful?

(A) referral to CHADD (Children and Adults with Hyperactivity and Attention Deficit Disorder)

(B) decreased intake of sugar-containing beverages

(C) consultation with an endocrinologist

(D) replacing junk food with more healthful snacks

(E) educational materials for parents

8. Arnold’s mother says his teacher has suggested that medication might help his activity level. What medication or type of medication might you first consider for Arnold?

(A) diphenhydramine

(B) stimulants

(C) clonidine

(D) lorazepam

(E) hydroxyzine

9. All but which one of the following can enhance objectivity during a trial of stimulants?

(A) choose target behaviors

(B) tell the school you are putting him on natural vitamins

(C) educate the mother about ADHD goals and side effects

(D) ask the mother to record weekly ratings

(E) ask the teacher to record weekly ratings

10. Which of the following statements about stimulants is true?

(A) they work in 80% of children with ADHD

(B) they are addictive

(C) they cause tics

(D) they should always be stopped on weekends and holidays

(E) they can all be crushed and sprinkled on apple sauce

11. Which of the following conditions promote(s) longterm success in children with learning and attention disorders?

(A) avoiding extracurricular activities

(B) positive experiences in community-based activities, such as scouts, sports, and religiousrelated after-school activities

(C) having peers as friends who engage in highrisk behaviors

(D) family disagreement on the value of education

(E) none of the above promotes long-term success

ANSWERS

1. (E) Vision, hearing, perceptual, and developmental screening tests are indicated. Timed running is indicated for high school students on the track team.

2. (C) The Capute Scales assess language and problem-solving skills in children ages 0-3 years. Special training and testing materials used by psychologists are required for the Brigance, Bayley, and Kaufman tests. The PEDS can be used by pediatricians as a query for parents for their children’s developmental and behavioral concerns.

3. (D) Connors and Vanderbilt behavior scales, as well as the Child Behavior Checklist, are appropriate behavior rating instruments. Tests of attachment are not indicated.

4. (E) Of the choices listed, the patient’s difficulty in learning to read in the first grade and the family history of reading difficulties should most raise the index of suspicion for a learning disability. The teacher’s concern about behavior needs to be coupled with what the child is learning at school. Although many states require that there be a gap between IQ and achievement for the diagnosis of learning disability, recent research indicates that this criterion does not have adequate sensitivity and specificity.

5. (B) Phonologic awareness training, which involves learning the sounds associated with letters, is the key to learning to read. Repeating grades and optometric training have not been helpful. Talking books are important resources to help facilitate accommodations. Talking books do not interfere with learning to read.

6. (C) Developmental coordination skills are not as important as memory, perceptual, and reading skills in assessing school achievement.

7. (C) Consultation with an endocrinologist is not indicated. There have been several reviews including randomized controlled studies that do not support the notion that sugar is responsible for the behavior of patients with ADHD. All children and adults benefit from restricted access to sugarcontaining beverages and high caloric density (junk) foods. Provision of written materials as well as referral to the organization for CHADD would be helpful.

8. (B) Arnold has ADHD and dyslexia. Key indicators are difficulties putting sequences together, difficulties mastering phonologic skills, and difficulties with activity level and attention. He would benefit from a biopsychological strategy emphasizing behavior management, stimulants, and quality academic supports. Stimulant medications, methylphenidate, dextroamphetamine, and others, are the first-line agents in conjunction with educational accommodations, behavioral supports, and family supports. Diphenhydramine, lorazepam, and hydroxyzine are not indicated. Clonidine is a second-line agent.

9. (B) Telling the school that Arnold is on vitamin therapy is not helpful. Choosing target behaviors of impulsivity, attention, and hyperactivity is helpful. Initially educating the mother about ADHD goals and side effects is critical as well as subsequently demythologizing the disorder for the child. Feedback from both parent and teacher and self-report from older children is also useful in ongoing management and in titrating the medication.

10. (A) Stimulants work in 80% of children with ADHD. They are not addictive. They decrease the risk of substance misuse when properly used. They do not cause tics. One cannot crush all delivery systems. Most children benefit by staying on them on weekends and holidays because ADHD is an ongoing, not intermittent, disorder.

11. (B) Community successes enhance self-confidence in children with ADHD. These include sports, scouts, church, music, and clubs. Having friends who are appropriately grounded is critical. Family consensus and problem-solving communication is important to ongoing management.


SUGGESTED READING

Aylward G. Additional considerations. In: Aylward GP, ed. Practitioner’s Guide to Developmental and Psychological Testing. New York, NY: Plenum Medical; 1994:221-232.

Marks KP, Glascol FP. Developmental and academic surveillance and screening. In: Augustyn M, Zuckerman B, Caronna EB, eds. Development and Behavioral Pediatrics: A Handbook for Primary Care. Philadelphia, PA: Lippincott Williams & Wilkins; 2011:48-55.

Ramey CT, Ramey SL. Early intervention: optimizing development of children with disabilities and risk conditions. In: Wolraich ML, ed. Disorders of Development and Learning. 3rd ed. Hamilton, Ontario, Canada: BC Decker; 2003:89-104.

CASE 33: AN 18-MONTH-OLD BOY WHO HAS NOT SPOKEN

Juan is an 18-month-old boy who presents to you for well-child care and is not walking yet. His mother became worried when he was not sitting at 8 months, but her pediatrician at that time said that he would grow out of this. He first rolled over at 5 months, sat alone at 10 months, crept at 12 months, and pulled to stand and cruised at 15 months. He has just started to walk with his hand held but does not walk alone. He prefers to W-sit. He likes to play with toys, especially a busy box, which occupies him for long periods. His mother says he understands what she says but is willful and often noncompliant. He babbles occasionally but has never said “mama.”

Past medical history is remarkable for an uneventful pregnancy except that fetal movements were later and less vigorous per Mom than when she was carrying his older sister. He was delivered uneventfully at term and weighed 3.85 kg. He went home with his mother on the second day and fed well. He has had all of his ageappropriate immunizations and has had no hospitalizations. He has an older sister who is doing well in second grade, but he has an uncle and two cousins with mental retardation.

Juan moved to Chicago from New York City. His mother is single and works at night.

On physical examination, his height, weight, and head circumference are at the 75th percentile. He is not noticeably dysmorphic. His skin has two 2 × 2 cm smooth hyperpigmentations, one on the abdomen and the other on his back. Otherwise, his physical examination is normal. When you or his mother tries to engage him in play, he tries to crawl away. He seems aloof and difficult to engage. He rings a bell you show him and doesn’t want to give it back. You give him some blocks and he puts them all into a cup. You hide a block under a cup and he has no problem finding it. When presented a crayon, he immediately starts scribbling. He heads toward your ophthalmoscope; you softly tell him “no,” causing him to stop briefly but then continue toward it. He picks it up and you hold out your hand and say, “Give it to me” twice. On the second repetition, he hands it over. You ask him to give the cup from among the pile of cubes and he picks up a cube and holds it out to his mother. All of this time, he hasn’t said anything.

SELECT THE ONE BEST ANSWER

1. What areas are most delayed for Juan?

(A) understanding and using language

(B) fine motor skills

(C) play skills

(D) gross motor skills

(E) social-emotional skills

2. What test is initially indicated to determine an etiology?

(A) transient otoacoustic emissions and/or automated auditory brainstem response (ABR)

(B) MRI of brain

(C) molecular tests

(D) renal sonogram

(E) all of the above

3. If Juan has hearing loss, it is least likely to include

(A) sensorineural hearing loss of 80 db

(B) mild conductive hearing loss of 25 db

(C) unilateral hearing loss of 40 db

(D) mixed conductive and sensorineural hearing loss of 60 db

(E) no defects; he has normal hearing

4. If Juan has bilateral hearing loss, what test is least likely to be helpful?

(A) thyroid

(B) connexin molecular studies

(C) EEG

(D) NF-kappa one functional evaluation

(E) ECG

5. Management options for children with 90-db hearing loss include all of the following except

(A) amplification

(B) total communication

(C) cochlear implants

(D) oral speech therapy if he has not talked by kindergarten entry

(E) all of the above

6. When Juan’s mother goes to work, he is left with an uncle who drinks alcohol and becomes aggressive. Which of the following statements is/are true?

(A) because Juan is deaf, he will not be affected by his uncle’s cursing

(B) because Juan has no bruises, he is not being abused

(C) when Juan is aggressive on the playground, it may be related to having his uncle as a caregiver

(D) if Juan is withdrawn in school, it is only because he is beginning to understand he’s deaf

(E) C and D

7. Helpful strategies when a relative or caregiver has a drinking problem include which of the following?

(A) children’s support groups through Alcoholics Anonymous

(B) ignoring the problem unless there is overt physical abuse

(C) if the caregiver is male, ensure that he is only caring for a male child to alleviate concerns of sexual abuse

(D) foster placement until the mother can arrange for another caregiver

(E) A and D

8. Supports for successful single parenting include which of the following?

(A) mentoring for the children

(B) ignoring out-of-home behaviors

(C) expecting the teachers to set the best educational goals

(D) respecting a teen’s privacy by never bringing up topics that might make the parent or teen uncomfortable

(E) A and C

9. Major supports for college education for hearingimpaired teens include which of the following?

(A) Americans with Disabilities Act

(B) National Technical Institute for the Deaf

(C) Gallaudet University

(D) sign language services only available in science classes

(E) A, B, and C

10. Which of the following statements is true about adults with deafness?

(A) they can only work at workplaces run by deaf individuals

(B) they should not have children unless they marry a hearing adult

(C) they can receive Supplemental Security Disability Income (SSDI) only if they cannot work

(D) if they adopt children, they can only adopt deaf children

(E) none of the above are true

ANSWERS

1. (A) Juan’s understanding and use of language is delayed.

2. (A) Hearing tests are indicated. Even if a child is too active or immature for play audiometry, transient otoacoustic emission testing or an ABR test will determine if auditory processing mechanisms are intact. Without microcephaly, global developmental delay, macrocephaly, neurologic asymmetry, spasticity, or a movement disorder, MRI is not initially indicated. If there were unexplained global developmental delay in a male, molecular testing for fragile X syndrome would be indicated, but Juan does not have global developmental delay. A renal sonogram would be indicated if there were craniofacial dysmorphism as part of a brachio-oto-renal syndrome.

3. (C) A unilateral hearing loss of 40 db would not cause delay in language. This is because intact hearing in the good ear would be adequate for picking up environmental sounds and conversations.

4. (C) EEG is least likely to be helpful unless there was a history suggestive of a seizure disorder. Pendred syndrome is associated with hearing loss and hypothyroidism. An ECG is indicated to rule out long Q-T syndrome. Connexin mutations are responsible for an increasing number of nonsyndromic hearing losses.

5. (D) Amplification, total communication, and cochlear implants are management options to maximize communication in children with 90-db hearing loss. The critical need is to ensure a communication system so that the child can develop language skills. The choice of what language system (aural or sign) should be discussed with both medical and educational professionals. Speech therapy at kindergarten entry is indicated for children with articulation disorders. If the child has a cochlear implant, a program of aural rehabilitation that includes helping the child understand sound and communicate in words is indicated.

6. (C) Children with hearing impairment can learn aggressive behaviors from others. Children with hearing impairment are at risk for abuse, especially if caretakers do not understand that yelling at deaf children is counterproductive. Children with hearing impairment can be bullied by peers. It is critical to assess the safety of the home, school, and community environment. In addition, all children with disruptive behaviors should have a strategy that includes expression of feelings, appropriate social skills, and appropriate consequences for violating social rules.

7. (A) Alcoholics Anonymous has support groups for children in families where there are drinking problems. The impact of problem drinking is more than physical abuse. The critical issue is the need for quality adult caregivers and after-school experiences. An important resource would be some of the community organizations providing support after school that would accommodate a child with a hearing disorder.

8. (A) Mentoring is a key management strategy for vulnerable children. Resources include YMCA, Scouts, sports teams, and church leaders. Longitudinal studies and population-based adolescent health surveys have demonstrated the critical role of family and mentors in decreasing risk-taking behavior of teens. In large urban school systems, there are gaps in the capacity of educational professionals alone to meet the needs of at-risk children. Though respecting a teen’s privacy is essential for developing trust, parents must undertake the difficult task of communicating both values, expectations, and concerns of problem behaviors even if they cause some discomfort in the teen.

9. (E) Interpreter services are available for all classes. The Americans with Disabilities Act requires schools to provide reasonable accommodation to individuals with hearing disorders. Both the National Technical Institute for the Deaf and Gallaudet University are post–high school college programs of excellence for individuals who are deaf or hearing impaired.

10. (C) Hearing-impaired individuals can receive SSDI, if they cannot work. The major requirement for SSDI is disability causing an inability to work. The Americans with Disability Act requires accommodations in all workplaces whatever the boss’s hearing status. Individuals who are deaf are free to marry any individual whether hearing impaired or not. Hearing-impaired individuals can adopt any child provided they are able to meet that child’s health, safety, and educational needs. Given the diverse nature of deafness, it should not be assumed that two hearing-impaired parents will have a hearingimpaired child or only choose to have a child without a hearing disorder.


SUGGESTED READING

Aylward GP. Additional considerations. In: Aylward GP, ed. Practitioner’s Guide to Developmental and Psychological Testing. New York, NY: Plenum Medical; 1994:221-232.

Kelly DP, Teplin SW. Disorders of sensation: Hearing and visual impairment. In: Wolraich ML, ed. Disorders of Development and Learning. 3rd ed. Hamilton, Ontario, Canada: BC Decker; 2003:329-344.

Roizen NJ, Deifendorf AO. Hearing loss in children. In: Roizen NJ, Deifendorf AO, eds. The Pediatric Clinics of North America. Vol 4 6. Philadelphia, PA: WB Saunders; 1999.

Willis LM, Willis KE. Hearing loss and deafness. In: Augustyn M, Zuckerman B, Caronna EB, eds. Development and Behavioral Pediatrics: A Handbook for Primary Care. Philadelphia, PA: Lippincott Williams & Wilkins; 2011:242-249.

CASE 34: A 4-MONTH-OLD WELL CHILD VISIT WITH A TEARFUL MOTHER

A 4-month-old boy presents to your office for a wellchild visit. His height and weight are in the 25% percentile, which represents a slight decline. When you tell this to his mother, she becomes tearful and states that she is doing everything she can to feed him, but he cries all the time. When questioned further, she gets discouraged easily when feeding him and does not have strong support from her husband, who works 14 hours a day. She discloses that she has not slept well at night and often cries for little or no reason. She appears disheveled and has not combed her hair, explaining that she cared more about her son looking good for the doctor than her.

SELECT THE ONE BEST ANSWER

1. What percentage of postpartum women experience baby blues? What percentage experience postpartum depression? What percentage experience postpartum psychosis?

(A) 90%, 20%, 10%

(B) 90%, 10%, 1%

(C) 60%, 10%, 1%

(D) 60%, 5%, 0.1%

(E) 33%, 1%, 0.1%

2. How would you further evaluate this mother for postpartum depression in your office?

(A) Structured Diagnostic and Statistical Manual of Mental Disorders, 4th Ed. (DSM-IV) interview

(B) Edinburgh scale

(C) Vanderbilt scales

(D) Brief Psychiatric Rating Scale

(E) no further evaluation needed

3. Upon further questioning, what in this mother’s history would increase the likelihood of diagnosing maternal depression?

(A) maternal cigarette smoking during pregnancy

(B) family history of schizophrenia in an aunt

(C) learning that this was an unplanned pregnancy

(D) learning that mom breast-fed for 3 days but stopped because it was not enjoyable

(E) there is a past history of an episode of depression as a teenager

4. What is the next best step in your treatment if you suspect postpartum depression?

(A) refer the mother to psychiatric treatment and counseling

(B) encourage the mother to voluntarily admit herself into a psychiatric hospital

(C) call Department of Children and Family Services (DCFS) to help explore the possibility of child neglect

(D) start selective serotonin reuptake inhibitor (SSRI) antidepressant treatment for the mother

(E) wait until the next visit to address your concerns

5. Upon completion of a postpartum depression survey, what item would necessitate diagnosis and intervention?

(A) crying at times because she is upset or sad

(B) thoughts of harming self or baby but no intention

(C) difficulty sleeping

(D) feeling sad or miserable some of the time

(E) A and C

ANSWERS

1. (D) The incidence of baby blues is measured to be anywhere from 40% to 80%. Symptoms include abrupt changes in mood, difficulty sleeping, and loss of appetite. Symptoms start a few days after delivery and usually lessen within 10 days. Incidence of postpartum depression is 5%. Symptoms meet criteria for a depression disorder and can occur anytime in the first 6 months after birth. The incidence of postpartum psychosis is 0.1% and should be considered if delusions, hallucinations, or other symptoms of psychosis develop.

2. (B) The Edinburgh postnatal depression scale is a 10-question survey designed to be a screening tool that can effectively screen for postpartum depression. Positive screens (score >13) indicate depressive illness of varying severity and should be explored further by the clinician.

3. (E) The strongest predictor of a current depressive episode is a history of a prior episode of clinical depression.

4. (A) With a clinical impression of postpartum depression, a pediatrician should make the proper referral to a mental health professional. There is no evidence for child neglect.

5. (B) Any response indicating suicidal or homicidal ideation should be evaluated. If there are serious immediate concerns for the safety of the mother or her child, the pediatrician should ensure intervention through emergency services (eg, emergency department visit, phone hotlines).


SUGGESTED READING

Brockington I. Postpartum psychiatric disorders. Lancet. 2004;363:303-310.

Gaynes BN, Gavin N, Meltzer-Brody S, et al. Perinatal depression: prevalence, screening accuracy, and screening outcomes. Evid Rep Technol Assess (Summ). 2005;(119):1-8.

Heneghan AM, Chaudron LH, Storfer-Isser A, et al. Factors associated with identification and management of maternal depression by pediatricians. Pediatrics. 2007;119(3):444-454.

Spinelli MG. Postpartum psychosis: detection of risk and management. Am J Psychiatry. 2009;166(4):405-408.

CASE 35: A 6-YEAR-OLD BOY WHO FAILED KINDERGARTEN

A 6-year-old boy is brought to your office because his mother is concerned about school. He is in kindergarten, but the school has told the family that he will have to repeat the year because he is not ready for first grade. He will not sit for “circle time” and listen to a story. He does not wait his turn and share toys with other children. When he is frustrated, he throws objects but not toward anyone in particular. He was suspended once for spitting from the top of playground equipment. The spit landed in a classmate’s hair, who told a teacher. He denied that he did it purposely and said that he didn’t see the classmate before he spit. In class, he constantly interrupts the class by making noises. The boy is unable to calm himself in your office and is constantly interrupting and playing with the medical equipment. He frequently clears his throat and has an unusually high amount of blinking. When questioned more about this, his mother says that he clears his throat more often when upset or worried and has been doing it since he was in preschool.

SELECT THE ONE BEST ANSWER

1. Based on your findings, what is the most likely diagnosis?

(A) ADHD

(B) anxiety

(C) Tourette syndrome

(D) seizure disorder

(E) learning disability

2. You start stimulant medication to help with attention and focus. What of the following might you expect after starting the medication?

(A) insomnia

(B) worsening of tics

(C) improvement of tics

(D) headache

(E) loss of appetite

3. What is the ratio of boys to girls affected by the most likely diagnosis in Question 1?

(A) 1 to 1

(B) 1 to 2

(C) 2 to 1

(D) 4 to 1

(E) 1 to 4

4. What medication would best treat his tics and ADHD?

(A) guanfacine

(B) risperidone

(C) lorazepam

(D) dexmethylphenidate

(E) sertraline

ANSWERS

1. (C) The presence of both motor and vocal tics for more than a year is diagnostic of Tourette syndrome. A large majority of children with Tourette also have comorbid symptoms of ADHD.

2. (B) The use of stimulants in Tourette syndrome can cause worsening of tics and should be treated with a different medication.

3. (D) The ratio of boys to girls with Tourette syndrome is 4 to 1.

4. (A) Guanfacine is a centrally acting alpha-2 adrenergic agonist with antihypertensive activity. The mechanism for decreasing tics is not fully understood but is considered a first-line therapy for Tourette syndrome.


SUGGESTED READING

Jankovic J. Tourette’s syndrome. N Engl J Med. 2001;345:1184-1192.

Leckman JF, Cohen DJ, Goetz CG, Jankovic J. Tourette syndrome: pieces of the puzzle. Adv Neurol. 2001;85:369-90.

Silay YS, Jankovic J. Emerging drugs in Tourette syndrome. Expert Opin Emerg Drugs. 2005; 10:365-80.

CASE 36: AN 8-YEAR-OLD GIRL WHO IS BOSSY

You are seeing an 8-year-old girl in your office with her mother who explains that her daughter is having trouble in school. She is having a hard time making friends and is constantly worried about what other children think of her. She does not think she has any friends, but her mother says she does. In school, she is constantly tattling on other children who break rules. She often misinterprets or follows rules literally. When there is a substitute teacher, she gets frustrated and acts out constantly because the teacher is not on the usual schedule. She likes being around the other children but has trouble keeping a conversation back and forth with them. She relates better to adults or small children than to peers. Her sleep is also a concern. Getting to bed takes at least 2 hours each night because she needs to take a shower, dress in the same pajamas, listen to a CD, read particular books, turn the fan on, line up her stuffed animals, and kiss a picture of her deceased aunt that she keeps under her pillow (who died when she was 3 years old). If any part of the routine is off, she gets upset and tantrums. The visit with you was scheduled at the last minute, and the change in her routine caused her so much distress that she gagged and vomited because she expected to take a math test instead. Her developmental history is normal for language development and cognitive abilities. She gets good grades in school. Her mother looks to you for help in explaining her behavior and for management.

SELECT THE ONE BEST ANSWER

1. Which of the following would best explain her behavior problems?

(A) sleep disorder

(B) ADHD

(C) oppositional defiant disorder (ODD)

(D) bipolar disorder

(E) obsession with routine and preoccupation with rules

2. In your office, she answers questions appropriately with direct, succinct answers. She has difficulty telling you about her day or explaining the plot to a story that she read, instead focusing on minute details that do not give a good overall summary. Based on this, what is your diagnosis?

(A) obsessive compulsive disorder (OCD)

(B) Asperger syndrome

(C) learning disability

(D) ADHD

(E) schizophrenia

3. Which of the following would you expect to be most difficult for her?

(A) playing on the playground with her class

(B) keeping track of a calendar

(C) arts and crafts projects

(D) being introduced to adults at a party

(E) playing a board game with a group of her classmates

4. What intervention would give her the most benefit?

(A) one-on-one tutor during group times

(B) special education classes

(C) social skills playgroup with social stories training

(D) stimulant medication

(E) none of the above

5. How should her mother best handle changes in routine?

(A) use of advanced warning, with frequent reminders

(B) use a transitional object, such as a favorite toy

(C) wait until the change in routine happens; then prepare for emotional support

(D) never change routine

(E) none of the above

6. How do you advise her mother to deal with her daughter’s emotional breakdowns?

(A) letting her hit a pillow

(B) taking away her toys

(C) use of journaling or artwork to express her feelings

(D) putting her in her bedroom by herself

(E) spanking

ANSWERS

1. (E) Being preoccupied with rules and routines seem to be the source of her negative dysfunctional behaviors.

2. (B) Asperger syndrome is characterized by impairments in social skills, restricted patterns of interest or behavior, and dysfunctional impairments without delays in language or cognition.

3. (E) Being in her peer group and playing a game where there are rules to follow would be a difficult task for a child with Asperger. The likelihood for misinterpreting or over interpreting rules is high, and there is likely the need for reciprocal social interaction with her peers.

4. (C) Learning scripted social stories and practicing social interactions with a peer group would be most beneficial for this child.

5. (A) Planning for transitions well in advance is important for children with Asperger syndrome so they can anticipate events in their day. This will lessen the emotional response to changes in routine.

6. (C) Exploring feelings and emotions through alternative means, such as journaling or artwork can be beneficial to children with Asperger.


SUGGESTED READING

Attwood T. The Complete Guide to Asperger’s Syndrome. London, United Kingdom: Jessica Kingsley; 2006.

Myles BS, Adreon D. Asperger syndrome and adolescence: Practical strategies for school success. Shawnee Mission, KS: Autism Asperger Publishing; 2001.