Pediatric Examination and Board Review (238 page)

15.
(E)
Depending on the study, approximately 80% of the children with autistic spectrum disorder have an abnormal EEG. The abnormalities can range from slowing of the background activity to overt epileptiform activity. As children with autism approach adulthood, the cumulative prevalence of developing a seizure disorder is approximately 35%. Although patients with autism can experience all types of seizures, the type most frequently encountered seems to be complex partial seizures. Patients with autism can have unusual behaviors, and, as a result, it may be difficult to determine if a behavior is truly epileptiform. Home monitoring video EEG has been useful in assessing if a behavior is associated with epileptiform activity. A family history of seizures and mental retardation are significant risk factors for the development of seizures.

16.
(C)
Routine testing with neuroimaging, chromosome analysis, serum amino acids, or other metabolic tests are usually not helpful in the absence of historical or physical findings warranting these tests. Likewise, EEG should be performed if the clinical suspicion of seizures is high. If a patient demonstrates regression of language skills, a prolonged EEG capturing sleep should be performed to rule out disorders such as Landau-Kleffner syndrome.

17.
(D)
This patient most likely has Rett syndrome, a neurodegenerative disorder. This disorder mainly occurs in females who develop symptoms following a period of normal development. The birth history is typically normal. Patients have normal head circumferences. At some point between 6 and 18 months of age, patients start to manifest symptoms characterized by deterioration of behavior, regression of speech and language skills, truncal ataxia, loss of purposeful hand movements, stereotyped hand movements (hand-wringing), autistic behavior, seizures, and acquired microcephaly. The key features in this case are the regression of skills, loss of purposeful hand movements, stereotyped hand movements, and ataxia. Patients with Angelman syndrome can also have developmental delay, seizures, ataxia, and acquired microcephaly. Patients with Angelman syndrome typically do not have the stereotyped hand movements. They have characteristic facial features such as prognathism, a protruding tongue, and wide mouth. Most cases of Angelman syndrome are due to deletions of chromosome 15q11-q13.

18.
(B)
Patients with Asperger syndrome have sustained impairments in social interaction, especially among their peers. Similar to autism, patients with Asperger syndrome have repetitive, restricted, and stereotypic behaviors. In contrast to patients with autism, language development is typically normal, although they may have pragmatic abnormalities in language. IQ tends to be in the normal or borderline range. Boys tend to be affected more than girls. Some clinicians believe Asperger syndrome is a mild form of autism.

S
UGGESTED
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Dunn DW, Kronenberger WG. Attention-deficit/hyper-activity disorder in children and adolescents.
Neurol Clin North Am.
2003;21:933-940.

Hirtz DG, Wagner A, Filipek PA. Autistic spectrum disorders. In: Swaiman KF, Ashwal S, Ferriero DM, eds. Pediatric
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4th ed. Philadelphia, PA: Mosby; 2006:905.

Kronenberger WG, Dunn DW. Learning disorders.
Neurol Clin North Am.
2003;21:941-952.

Mandelbaum DE. Attention-deficit hyperactivity disorder. In: Swaiman KF, Ashwal S, Ferriero DM, eds.
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CASE 138: A 2-YEAR-OLD BOY WITH DEVELOPMENTAL DELAY AND SPASTICITY

A 2-year-old boy presents to your clinic with the chief complaint of developmental delay. His mother states he was born at 34 weeks’ gestation. The pregnancy was complicated by premature rupture of membranes 5 weeks before delivery. His mother was hospitalized and received a 7-day course of ampicillin and 2 doses of betamethasone. At the time of delivery, she developed a fever of 102°F. The baby was delivered by cesarean secondary to fetal tachycardia and arrest of descent. Because the baby was found to have a poor heart rate and respiratory effort, CPR was initiated. His Apgar scores were 1, 2, and 5 at 1, 5, and 10 minutes, respectively. He was admitted to the neonatal intensive care unit (NICU) for management of possible sepsis. A head ultrasound revealed a “hemorrhage” according to his mother.

At 7 months of age, his mother states she became concerned because her son was not able to sit without support. By 15 months of age, he was still not walking. His language development is normal. She presented to her primary pediatrician who referred her to an Early Intervention program. As a result of occupational and physical therapies, he is now able to use a spoon and a sippy cup. He developed the ability to crawl and in fact is now able to cruise around furniture. Although his mother is pleased by his developmental progress, she notes that he still has a tendency to use his left hand more than his right.

On physical examination, he is a very happy and active child. His head circumference is at the 50th percentile. His cranial nerve examination is normal. On motor examination, he is able to reach for a block but clearly favors his left hand. His right thumb is persistently adducted. He is unable to perform a pincer grasp with his right hand. His muscle tone is increased on the right side of his body. His heel cord on the right is tight. His deep tendon reflexes are asymmetric with the right side of his body slightly brisker than the left side. He is able to bear weight on his legs but stands on his tiptoe on the right. Examination of his skin reveals a small café au lait spot on his back.

SELECT THE ONE BEST ANSWER

1.
Intraventricular hemorrhages (IVH) are most likely to affect which of the following brain structures in the premature infant?

(A) cortex

(B) middle cerebral artery

(C) germinal matrix

(D) basal ganglia

(E) lenticulostriate arteries

2.
You were able to review the patient’s head ultrasound, which demonstrated blood within the ventricular system. The ventricle was not distended. What grade IVH did this patient have based on the head ultrasound?

(A) grade 1

(B) grade 2

(C) grade 3

(D) grade 4

(E) none of the above

3.
This child most likely has which of the following diagnoses?

(A) mental retardation

(B) spastic hemiplegic cerebral palsy

(C) ataxic cerebral palsy

(D) spastic diplegic cerebral palsy

(E) mixed cerebral palsy

4.
Which of the following are risk factors for the development of cerebral palsy?

(A) low birthweight

(B) hyperbilirubinemia

(C) maternal antenatal methyl mercury ingestion

(D) preterm delivery

(E) all of the above

5.
Which of the following are classifications of cerebral palsy?

(A) spastic

(B) choreoathetotic

(C) ballismic

(D) A and C

(E) A, B, and C

6.
A 4-year-old boy born to immigrant parents comes to your clinic. He presents with sensorineural hearing loss, supernuclear ophthalmoplegia, enamel hypoplasia, and choreoathetosis. The most likely cause of his symptoms is which of the following?

(A) stroke

(B) congenital infection with CMV

(C) congenital infection with rubella

(D) kernicterus

(E) lissencephaly

7.
A preterm infant is most likely to have which form of cerebral palsy?

(A) spastic diplegia

(B) spastic quadriplegia

(C) spastic hemiplegia

(D) choreoathetotic

(E) atonic or hypotonic

8.
Which of the following statements regarding the spastic hemiplegic form of cerebral palsy is false?

(A) for unknown reasons, the left hemisphere is more often affected than the right hemisphere

(B) the arm is usually more affected than the leg

(C) facial involvement is typical

(D) provided the child has no other major problems, he or she will most likely walk by 2 years of age

(E) all of the above statements are false

9.
Which form of cerebral palsy is most often associated with birth asphyxia?

(A) spastic diplegia

(B) spastic quadriplegia

(C) spastic hemiplegia

(D) choreoathetotic

(E) atonic or hypotonic

10.
The patient’s mother asks you what treatment options are available for her son should his spasticity get worse. Which of the following interventions have been used in the treatment of cerebral palsy?