Pediatric Primary Care (119 page)

B.  Etiology.

1.  Genetic abnormalities.

2.  Early environmental deprivation.

3.  Metabolic abnormalities.

4.  Abnormal CNS/brain development.

5.  Idiopathic/unknown.

C.  Occurrence.

1.  Developmental disabilities of early onset affect 5-10% of children.

2.  Refers to younger children younger than 5 years of age.

3.  1-3% of children younger than 5 years of age are affected.

D.  Clinical manifestations.

1.  Two standard deviations or more below the mean on age-appropriate standardized norm-referenced testing.

E.  Physical findings.

1.  Not walking independently by 18 months of age.

2.  Poor/clumsy fine motor skills.

3.  No two-word sentences by 2 years of age.

4.  Does not follow two-step commands at age 2 years.

5.  Does not know 6 body parts by 2 years of age.

6.  Unable to feed, dress, or do activities of daily living.

7.  May see poor feeding, poor weight gain, dysmorphic features, cardiac or liver, kidney, bowel abnormalities.

F.  Diagnostic testing.

1.  Obtain detailed history and examination.

2.  Refer for auditory and ophthalmologic screening.

3.  Consider metabolic studies/T4 if newborn screening not done.

4.  EEG if history suspects seizures.

5.  If close family member with global developmental delay due to a known cause, test for that disorder and obtain cytogenetic screen.

6.  Head MRI.

7.  Lead screen.

8.  Complete metabolic panel.

9.  Lactic acid.

10.  High resolution chromosomes, fragile X, Rett syndrome.

11.  Urine genetic screen.

12.  Microarray if other tests negative.

13.  Mitochondrial testing, muscle biopsy, if suspected and other testing inconclusive or negative.

G.  Differential diagnosis.

H.  Treatment.

1.  Therapy–speech, physical, occupational, developmental, and/or nutritional.

2.  Medications as needed for any underlying cause.

3.  Genetic counseling.

I.  Follow up.

1.  Discussion of test results.

2.  For any regression or loss of developmental milestones.

3.  Every 3 months to assess progression/development.

4.  To obtain further recommendations for testing in step-wise approach.

5.  For need for additional resources: referral to genetics, metabolism, developmental pediatrics, therapies, psychiatry, neurology, and other services as needed.

J.  Complications.

1.  Progressive loss of skills or lack of progression if untreated.

2.  Seizures.

3.  Behavioral disturbances.

4.  Some disorders may affect systemic organs/systems.

K.  Education.

1.  Explaining test results, possible outcomes, prognosis.

2.  Possible complications.

3.  Medications if needed/treatment plan.

4.  Resources.

5.  Genetic and other counseling.

XV.  TOURETTE SYNDROME

A.  Neurobiological disorder characterized by tics–involuntary, rapid, sudden movements and/or vocal outburst that occur repeatedly.

B.  Etiology.

1.  No known cause has yet been established.

2.  Evidence points to abnormal metabolism of dopamine.

3.  Genetic studies indicate that Tourette syndrome is inherited as a dominant gene.

C.  Occurrence.

1.  Estimated that 200,000 people in United States are affected–up to 18% of children.

2.  Often undiagnosed or misdiagnosed.

3.  50% chance of affected parent passing to child.

4.  Sons are 3 to 4 times more likely to be affected than daughters.

5.  Peak severity of symptoms between 8-12 years and adolescents.

6.  Can occur as early as 2 years of age, mean age of onset 6-7 years.

7.  More common in males.

8.  Exacerbated by anxiety, excitement, anger, fatigue, tension, stress.

9.  Can decrease with relaxation or concentrating on an absorbing task.

D.  Clinical manifestations.

1.  Motor tics–involuntary rapid repetitive stereotyped movements of muscle groups.

a.  Simple–involves one muscle group: eye blinking, facial grimacing, head jerking, shoulder shrugging.

b.  Complex–involves either a cluster of simple movements or more coordinated sequence of movements: hopping, clapping, tensing arm or neck muscles, touching people or objects.

2.  Vocal tics–transient vocalizations, meaningless sounds or noises or even words or phrases.

a.  Simple vocaltics: sniffing, humming, clearing throat, coughing, squeaking.

b.  Rare, complex vocal tics:

•  Echolalia–repeating others' words.

•  Palilalia–repeating one's own words.

•  Coprolalia–obscene words.

3.  Symptoms vary in children by type of specific tic and degree of severity.

E.  Physical findings.

1.  May or may not see tics exhibited on exam while in office because some children can temporarily suppress them, but still have urge.

2.  May complain of muscle pain due to frequent motor tics.

F.  Diagnostic testing.

1.  Based on observing symptoms and evaluating history.

2.  Must meet
Diagnostic and Statistical Manual of Mental Disorders
(DSM-IV) criteria:

a.  Both motor and vocal tics must be present at same time.

b.  Tics occur many times a day (usually in bouts) nearly daily or intermittently for more than 1 year without a tic-free period of 3 months or more.

c.  Tics cause marked distress or significant impairment in social or daily functioning.

d.  Onset is before age 18.

e.  Tics are not due to physiological effects of medication or underlying medical condition.

G.  Differential diagnosis.

H.  Treatment.

1.  None if tics are not disruptive to patient/child.

2.  Teach coping skills and relaxation techniques.

3.  Maintain adequate sleep hours and routine.

4.  Treat with medication if disruptive, causes pain, decreases self-esteem, child is teased, child is frustrated, interferes socially or academically.

a.  Guanfacine (Tenex)–low side effects, but effective only 50% of time.

b.  Clonidine–sedating.