American Academy of Pediatrics recommended anticipatory care for children with Williams syndrome

Option	At diagnosis	0 to 12 months old	1 to 5 years old	6 to 12 years old	13 to 18 years old	Adult
Health maintenance physical examination	Yes	Each visit	Each visit	Yearly	Yearly	Yearly
Establish medical home	Yes	Yes	Yes	Yes	Yes	Yes
Plot growth parameters on WS growth charts	Yes	Each visit	Each visit	Each visit	Each visit	Monitor weight
Check blood pressure (both arms), auscultate for murmurs and bruits, check pulses	Yes	Each visit	Each visit	Each visit	Each visit	Each visit
Check for inguinal hernia	Yes	Each visit	Yearly	Yearly	Yearly	Yearly
Evaluate for neurologic abnormalities (hypotonia, hyperreflexia, cerebellar signs)	Yes	Each visit	Yearly	Yearly	Yearly	Yearly
Screen for musculoskeletal problems (joint laxity, joint contractures, kyphosis, scoliosis, lordosis)	Yes	Yearly	Yearly	Yearly	Yearly	Yearly
Review diagnosis and potential complications	Yes	As needed	As needed	As needed	As needed	As needed
Discuss feeding issues, nutrition	Yes	Yes	As needed	As needed	As needed	As needed
Counsel regarding symptoms of hypercalcemia; avoid multivitamins with vitamin D and advise calcium RDI	Yes	Yes	Yes	As needed	As needed	Yes
Discuss constipation, treat aggressively	Yes	Yes	Yearly	Yearly	Yearly	Yearly
Advise daily range-of-motion exercises	Yes	N/A	Yearly	Yearly	Yearly	Yearly
Inquire about sleep problems	Yes	Yes	Yearly	Yearly	Yearly	Yearly
Pediatric anesthesia consultation before procedures	Yes	Yes	Yes	Yes	Yes	N/A
Provide support group information	Yes	As needed	As needed	As needed	As needed	As needed
Ocular
Vision screening for strabismus, refractive errors, cataracts (adults)	Yes	Yearly	Yearly	Yearly	Yearly	Yearly
Ophthalmologic evaluation	Yes	As needed	As needed	As needed	As needed	Yearly
Auditory
Audiological evaluation	Yes	Yearly	Yearly	Yearly	Yearly	Yearly
Counsel regarding sensitivity to sound	Yes	As needed	As needed	As needed	As needed	As needed
Dental
Dental cleaning	Yes	N/A	Every 6 months	Every 6 months	Every 4 months	Every 4 months
Refer to orthodontics for malocclusion	N/A	N/A	N/A	Yes	Yes	Yes
Calcium
Serum concentration of calcium	Yes	Every 4 months	Every 4 to 6 months until age 2 years then every 2 years	Every 2 years	Every 2 years	Every 2 years
Spot random urine for urine calcium/creatinine ratio	Yes	As needed	As needed	As needed	As needed	As needed
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 stenosis	Yes	Every 3 months	Yearly	Every 2 years	Every 2 years	Every 2 years
Electrocardiogram	Yes	Yearly	Yearly	Yearly	Yearly	Yearly
Genitourinary
Renal ultrasonography with Doppler and bladder ultrasonography evaluation for malformation, nephrocalcinosis, diverticulitis	Yes	N/A	N/A	Every 10 years	Every 10 years	Every 10 years
Serum BUN, creatinine	Yes	As needed	As needed	As needed	As needed	As needed
Urinalysis	Yes	Yearly	Yearly	Yearly	Yearly	Yearly
Refer to pediatric nephrologist and/or endocrinologist for persistent hypercalcemia, hypercalciuria, or nephrocalcinosis	Yes	Yes	As needed	As needed	As needed	As needed
Endocrine
Thyroid function tests	Yes	Yearly	Yearly until age 3 years	Every 2 years	Every 2 years	Every 2 years
Consider treating early puberty	N/A	N/A	N/A	As needed	N/A	N/A
Fasting glucose level followed by oral glucose tolerance test if abnormal result	N/A	N/A	N/A	N/A	Yearly	Yearly
Development and cognition
Multidisciplinary developmental evaluation	Yes	Yearly	Yearly	N/A	N/A	N/A
Neuropsychological evaluation	N/A	N/A	Yes at age 3 years	Every 3 years	Every 3 years	As needed
Refer for therapy (speech and language, physical and occupational), consider hippotherapy	Yes	Yes	Yes	Yes	Yes	Yes
Feeding therapy if needed	Yes	As needed	As needed	N/A	N/A	N/A
Refer to early intervention program	Yes	Yes	N/A	N/A	N/A	N/A
Refer for special education	Yes	N/A	Yes	Yes	Yes	N/A
Behavior
Assessment of behavior (attention, anxiety, adaptive skills)	Yes	N/A	Yearly	Yearly	Yearly	Yearly
Consider behavioral interventions based on applied behavior analysis	Yes	N/A	As needed	As needed	N/A	N/A
Treatment of mental health problems (ADHD, anxiety, depression)	Yes	N/A	As needed	As needed	As needed	As needed
Social skills training	Yes	N/A	Yes	Yes	Yes	Yes
Genetic counseling
Medical genetics evaluation	Yes	As needed	As needed	As needed	As needed	As needed
Genetic counseling for family	Yes	N/A	N/A	N/A	N/A	N/A
Genetic counseling for individual	N/A	N/A	N/A	N/A	Yes	Yes
Transition
Vocational training	N/A	N/A	N/A	N/A	Yes	Yes

BUN: blood urea nitrogen; CT: computed tomography; MRA: magnetic resonance angiography; N/A: not applicable; RDI: Reference Daily Intake; WS: Williams syndrome.

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American Academy of Pediatrics recommended anticipatory care for children with Williams syndrome