Pediatric Examination and Board Review (52 page)

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.

S
UGGESTED
R
EADING

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.

S
UGGESTED
R
EADING

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.