Anticipatory Guidance in WS
| Option . | At Diagnosis . | 0–12 mo Old . | 1–5 y Old . | 6–12 y Old . | 13–18 y 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 wt |
| 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 | PRN | PRN | PRN | PRN | PRN |
| Discuss feeding issues, nutrition | Yes | Yes | PRN | PRN | PRN | PRN |
| Counsel regarding symptoms of hypercalcemia; avoid multivitamins with vitamin D and advise calcium RDI | Yes | Yes | Yes | PRN | PRN | Yes |
| Discuss constipation, treat aggressively | Yes | Yes | Yearly | Yearly | Yearly | Yearly |
| Advise daily range-of-motion exercises | Yes | — | Yearly | Yearly | Yearly | Yearly |
| Inquire about sleep problems | Yes | Yes | Yearly | Yearly | Yearly | Yearly |
| Pediatric anesthesia consultation before procedures | Yes | Yes | Yes | Yes | Yes | — |
| Provide support group information | Yes | PRN | PRN | PRN | PRN | PRN |
| Ocular | ||||||
| Vision screening for strabismus, refractive errors, cataracts (adults) | Yes | Yearly | Yearly | Yearly | Yearly | Yearly |
| Ophthalmologic evaluation | Yes | PRN | PRN | PRN | PRN | Yearly |
| Auditory | ||||||
| Audiological evaluation | Yes | Yearly | Yearly | Yearly | Yearly | Yearly |
| Counsel regarding sensitivity to sound | Yes | PRN | PRN | PRN | PRN | PRN |
| Dental | ||||||
| Dental cleaning | Yes | — | Every 6 mo | Every 6 mo | Every 4 mo | Every 4 mo |
| Refer to orthodontics for malocclusion | — | — | — | Yes | Yes | Yes |
| Calcium | ||||||
| Serum concentration of calcium | Yes | Every 4 mo | Every 4–6 mo until age 2 y then every 2 y | Every 2 y | Every 2 y | Every 2 y |
| Spot random urine for urine calcium/creatinine ratio | Yes | PRN | PRN | PRN | PRN | PRN |
| 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 mo | Yearly | Every 2 y | Every 2 y | Every 2 y |
| Electrocardiogram | Yes | Yearly | Yearly | Yearly | Yearly | Yearly |
| Genitourinary | ||||||
| Renal ultrasonography with Doppler and bladder ultrasonography evaluation for malformation, nephrocalcinosis, diverticulitis | Yes | — | — | Every 10 y | Every 10 y | Every 10 y |
| Serum BUN, creatinine | Yes | PRN | PRN | PRN | PRN | PRN |
| Urinalysis | Yes | Yearly | Yearly | Yearly | Yearly | Yearly |
| Refer to pediatric nephrologist and/or endocrinologist for persistent hypercalcemia, hypercalciuria, or nephrocalcinosis | Yes | Yes | PRN | PRN | PRN | PRN |
| Endocrine | ||||||
| Thyroid function tests | Yes | Yearly | Yearly until age 3 y | Every 2 y | Every 2 y | Every 2 y |
| Consider treating early puberty | — | — | — | PRN | — | — |
| Fasting glucose level followed by oral glucose tolerance test if abnormal result | — | — | — | — | Yearly | Yearly |
| Development and cognition | ||||||
| Multidisciplinary developmental evaluation | Yes | Yearly | Yearly | — | — | — |
| Neuropsychological evaluation | — | — | Yes at age 3 y | Every 3 y | Every 3 y | PRN |
| Refer for therapy (speech and language, physical and occupational), consider hippotherapy | Yes | Yes | Yes | Yes | Yes | Yes |
| Feeding therapy if needed | Yes | PRN | PRN | — | — | — |
| Refer to early intervention program | Yes | Yes | — | — | — | — |
| Refer for special education | Yes | — | Yes | Yes | Yes | — |
| Behavior | ||||||
| Assessment of behavior (attention, anxiety, adaptive skills) | Yes | — | Yearly | Yearly | Yearly | Yearly |
| Consider behavioral interventions based on applied behavior analysis | Yes | — | PRN | PRN | — | — |
| Treatment of mental health problems (ADHD, anxiety, depression) | Yes | — | PRN | PRN | PRN | PRN |
| Social skills training | Yes | — | Yes | Yes | Yes | Yes |
| Genetic counseling | ||||||
| Medical genetics evaluation | Yes | PRN | PRN | PRN | PRN | PRN |
| Genetic counseling for family | Yes | — | — | — | — | — |
| Genetic counseling for individual | — | — | — | — | Yes | Yes |
| Transition | ||||||
| Vocational training | — | — | — | — | Yes | Yes |
| Option . | At Diagnosis . | 0–12 mo Old . | 1–5 y Old . | 6–12 y Old . | 13–18 y 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 wt |
| 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 | PRN | PRN | PRN | PRN | PRN |
| Discuss feeding issues, nutrition | Yes | Yes | PRN | PRN | PRN | PRN |
| Counsel regarding symptoms of hypercalcemia; avoid multivitamins with vitamin D and advise calcium RDI | Yes | Yes | Yes | PRN | PRN | Yes |
| Discuss constipation, treat aggressively | Yes | Yes | Yearly | Yearly | Yearly | Yearly |
| Advise daily range-of-motion exercises | Yes | — | Yearly | Yearly | Yearly | Yearly |
| Inquire about sleep problems | Yes | Yes | Yearly | Yearly | Yearly | Yearly |
| Pediatric anesthesia consultation before procedures | Yes | Yes | Yes | Yes | Yes | — |
| Provide support group information | Yes | PRN | PRN | PRN | PRN | PRN |
| Ocular | ||||||
| Vision screening for strabismus, refractive errors, cataracts (adults) | Yes | Yearly | Yearly | Yearly | Yearly | Yearly |
| Ophthalmologic evaluation | Yes | PRN | PRN | PRN | PRN | Yearly |
| Auditory | ||||||
| Audiological evaluation | Yes | Yearly | Yearly | Yearly | Yearly | Yearly |
| Counsel regarding sensitivity to sound | Yes | PRN | PRN | PRN | PRN | PRN |
| Dental | ||||||
| Dental cleaning | Yes | — | Every 6 mo | Every 6 mo | Every 4 mo | Every 4 mo |
| Refer to orthodontics for malocclusion | — | — | — | Yes | Yes | Yes |
| Calcium | ||||||
| Serum concentration of calcium | Yes | Every 4 mo | Every 4–6 mo until age 2 y then every 2 y | Every 2 y | Every 2 y | Every 2 y |
| Spot random urine for urine calcium/creatinine ratio | Yes | PRN | PRN | PRN | PRN | PRN |
| 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 mo | Yearly | Every 2 y | Every 2 y | Every 2 y |
| Electrocardiogram | Yes | Yearly | Yearly | Yearly | Yearly | Yearly |
| Genitourinary | ||||||
| Renal ultrasonography with Doppler and bladder ultrasonography evaluation for malformation, nephrocalcinosis, diverticulitis | Yes | — | — | Every 10 y | Every 10 y | Every 10 y |
| Serum BUN, creatinine | Yes | PRN | PRN | PRN | PRN | PRN |
| Urinalysis | Yes | Yearly | Yearly | Yearly | Yearly | Yearly |
| Refer to pediatric nephrologist and/or endocrinologist for persistent hypercalcemia, hypercalciuria, or nephrocalcinosis | Yes | Yes | PRN | PRN | PRN | PRN |
| Endocrine | ||||||
| Thyroid function tests | Yes | Yearly | Yearly until age 3 y | Every 2 y | Every 2 y | Every 2 y |
| Consider treating early puberty | — | — | — | PRN | — | — |
| Fasting glucose level followed by oral glucose tolerance test if abnormal result | — | — | — | — | Yearly | Yearly |
| Development and cognition | ||||||
| Multidisciplinary developmental evaluation | Yes | Yearly | Yearly | — | — | — |
| Neuropsychological evaluation | — | — | Yes at age 3 y | Every 3 y | Every 3 y | PRN |
| Refer for therapy (speech and language, physical and occupational), consider hippotherapy | Yes | Yes | Yes | Yes | Yes | Yes |
| Feeding therapy if needed | Yes | PRN | PRN | — | — | — |
| Refer to early intervention program | Yes | Yes | — | — | — | — |
| Refer for special education | Yes | — | Yes | Yes | Yes | — |
| Behavior | ||||||
| Assessment of behavior (attention, anxiety, adaptive skills) | Yes | — | Yearly | Yearly | Yearly | Yearly |
| Consider behavioral interventions based on applied behavior analysis | Yes | — | PRN | PRN | — | — |
| Treatment of mental health problems (ADHD, anxiety, depression) | Yes | — | PRN | PRN | PRN | PRN |
| Social skills training | Yes | — | Yes | Yes | Yes | Yes |
| Genetic counseling | ||||||
| Medical genetics evaluation | Yes | PRN | PRN | PRN | PRN | PRN |
| Genetic counseling for family | Yes | — | — | — | — | — |
| Genetic counseling for individual | — | — | — | — | Yes | Yes |
| Transition | ||||||
| Vocational training | — | — | — | — | Yes | Yes |
BUN, blood urea nitrogen; CT, computed tomography; MRA, magnetic resonance angiography; PRN, as needed; RDI, Reference Daily Intake; —, not applicable.