TABLE 3

Anticipatory Guidance in WS

OptionAt Diagnosis0–12 mo Old1–5 y Old6–12 y Old13–18 y OldAdult
Health maintenance physical examinationYesEach visitEach visitYearlyYearlyYearly
 Establish medical homeYesYesYesYesYesYes
 Plot growth parameters on WS growth chartsYesEach visitEach visitEach visitEach visitMonitor wt
 Check blood pressure (both arms), auscultate for murmurs and bruits, check pulsesYesEach visitEach visitEach visitEach visitEach visit
 Check for inguinal herniaYesEach visitYearlyYearlyYearlyYearly
 Evaluate for neurologic abnormalities (hypotonia, hyperreflexia, cerebellar signs)YesEach visitYearlyYearlyYearlyYearly
 Screen for musculoskeletal problems (joint laxity, joint contractures, kyphosis, scoliosis, lordosis)YesYearlyYearlyYearlyYearlyYearly
Review diagnosis and potential complicationsYesPRNPRNPRNPRNPRN
 Discuss feeding issues, nutritionYesYesPRNPRNPRNPRN
 Counsel regarding symptoms of hypercalcemia; avoid multivitamins with vitamin D and advise calcium RDIYesYesYesPRNPRNYes
 Discuss constipation, treat aggressivelyYesYesYearlyYearlyYearlyYearly
 Advise daily range-of-motion exercisesYesYearlyYearlyYearlyYearly
 Inquire about sleep problemsYesYesYearlyYearlyYearlyYearly
 Pediatric anesthesia consultation before proceduresYesYesYesYesYes
 Provide support group informationYesPRNPRNPRNPRNPRN
Ocular
 Vision screening for strabismus, refractive errors, cataracts (adults)YesYearlyYearlyYearlyYearlyYearly
 Ophthalmologic evaluationYesPRNPRNPRNPRNYearly
Auditory
 Audiological evaluationYesYearlyYearlyYearlyYearlyYearly
 Counsel regarding sensitivity to soundYesPRNPRNPRNPRNPRN
Dental
 Dental cleaningYesEvery 6 moEvery 6 moEvery 4 moEvery 4 mo
 Refer to orthodontics for malocclusionYesYesYes
Calcium
 Serum concentration of calciumYesEvery 4 moEvery 4–6 mo until age 2 y then every 2 yEvery 2 yEvery 2 yEvery 2 y
 Spot random urine for urine calcium/creatinine ratioYesPRNPRNPRNPRNPRN
Cardiovascular
 Pediatric cardiology evaluation to include 3 limb blood pressures and echocardiography, including Doppler flow studies; additional imaging studies (CT, MRA, catheterization) to be considered in the setting of severe SVAS, diminished femoral pulses, bruits, or suspicion of long segment aortic stenosisYesEvery 3 moYearlyEvery 2 yEvery 2 yEvery 2 y
 ElectrocardiogramYesYearlyYearlyYearlyYearlyYearly
Genitourinary
 Renal ultrasonography with Doppler and bladder ultrasonography evaluation for malformation, nephrocalcinosis, diverticulitisYesEvery 10 yEvery 10 yEvery 10 y
 Serum BUN, creatinineYesPRNPRNPRNPRNPRN
 UrinalysisYesYearlyYearlyYearlyYearlyYearly
 Refer to pediatric nephrologist and/or endocrinologist for persistent hypercalcemia, hypercalciuria, or nephrocalcinosisYesYesPRNPRNPRNPRN
Endocrine
 Thyroid function testsYesYearlyYearly until age 3 yEvery 2 yEvery 2 yEvery 2 y
 Consider treating early pubertyPRN
 Fasting glucose level followed by oral glucose tolerance test if abnormal resultYearlyYearly
Development and cognition
 Multidisciplinary developmental evaluationYesYearlyYearly
 Neuropsychological evaluationYes at age 3 yEvery 3 yEvery 3 yPRN
 Refer for therapy (speech and language, physical and occupational), consider hippotherapyYesYesYesYesYesYes
 Feeding therapy if neededYesPRNPRN
 Refer to early intervention programYesYes
 Refer for special educationYesYesYesYes
Behavior
 Assessment of behavior (attention, anxiety, adaptive skills)YesYearlyYearlyYearlyYearly
 Consider behavioral interventions based on applied behavior analysisYesPRNPRN
 Treatment of mental health problems (ADHD, anxiety, depression)YesPRNPRNPRNPRN
 Social skills trainingYesYesYesYesYes
Genetic counseling
 Medical genetics evaluationYesPRNPRNPRNPRNPRN
 Genetic counseling for familyYes
 Genetic counseling for individualYesYes
Transition
 Vocational trainingYesYes
  • BUN, blood urea nitrogen; CT, computed tomography; MRA, magnetic resonance angiography; PRN, as needed; RDI, Reference Daily Intake; —, not applicable.