AAP Health Supervision for Children with Williams Syndrome Flashcards
What medical problems are associated with Williams Syndrome?
• Ocular and visual - esotropia 50% - hyperopia 50% • Auditory - chronic otitis media 50% - hypersensitivity to sound 90% • Dental - malocclusion 85% - microdontia 95% • Cardiovascular - SVAS 75% - SVPS 25% - PPS 50% - Renal artery stenosis 45% - Other arterial stenosis 20% - VSD 10% - Hypertension 50% • Genitourinary - Structural anomaly - Enuresis - Nephrocalcinosis • Gastrointestinal - Feeding difficulties - Constipation - Colon diverticula - Rectal prolapse • Skin - soft lax skin - inguinal hernia - umbilical hernia - prematurely gray hair • MSK - joint hypermobility - joint contractures - radioulnar synostoses - kyphosis - lordosis - awkward gait • Calcium - hypercalcemia - hypercalciuria • Endocrine - hypothyroidism - early puberty - DM - obesity • Neurologic - hyperactive DTR - Chiari I malformation - Hypotonia (central) - Hypertonia (peripheral) • Cognitive - Dev't delay - MR - Borderline intellectual functioning - Normal intelligence - Impaired visuospatial constructive cognition • Behavioral - ADHD - GAD
What are the Williams syndrome diagnostic scoring table growth parameters?
1 point if 3 of the following 5 GROWTH present: • Post term birth >41wk GA • FTT/ht and wt <5th %ile • Vomiting or GER • Prolonged colic > 4m irritability • Chronic constipation
What are the Williams syndrome diagnostic scoring table Behaviour and Development factors?
If 3 of the 6 items BEHAVIOUR AND DEVELOPMENT are checked score 1 point:
• Overly friendly personality
• Hypersensitivity to sound
• Anxiety
• Developmental delay or MR
• Visuospatial problems
• Delayed speech acquisition, followed by excessive talking
What are the Williams syndrome diagnostic scoring table in the facial features domain?
If 8 of 17 items are checked in the FACIAL FEATURES domain score 3 points: • bitemporal narrowing • epicanthal folds or flat nasal bridge • strabismus • short nose or anteversion of nares • full cheeks • long philtrum • small, widely spaced teeth • wide mouth • prominent ear lobes • broad brow • periorbital fullness • stellate lacy iris pattern • bulbous or full nasal tip • malar hypoplasoa (flat cheek bones) • Full prominent lips • malocclusion • small jaw
What are the Williams syndrome diagnostic scoring table in the cardiovascular problems by echocardiography?
If 1 of 2 items are checked in the cardiovascular problems by echocardiography, score 5 points:
• Supravalvular aortic stenosis (SVAS)
• Peripheral pulmonary artery stenosis (PPAS)
What are the Williams syndrome diagnostic scoring table in the cardiovascular domain?
If 1 of 3 items checked in the cardiovascular problems, score 1 point:
• Other congenital heart disease
• Cardiac murmur
• Hypertension
What are the Williams syndrome diagnostic scoring table in the connective tissue abnormality domains?
If 2 of 6 items are checked in the CONNECTIVE TISSUE ABNORMALITIES domain, score 2 points: • Hoarse voice • Inguinal hernia • Bowel or bladder diverticula • Long neck or sloped shoulders • Joint limitation or laxity • Rectal prolapse
What are the Williams syndrome diagnostic scoring table in the calcium studies domain?
If 1 of 2 items are checked in CALCIUM STUDIES, score 2 points:
• Hypercalcemia
• Hypercalciuria
What is the classical cardiac abnormality associated with Williams syndrome?
Supravalvular aortic stenosis (SVAS)
Peripheral pulmonary artery stenosis
What initial evaluation should occur for Williams syndrome?
Complete physical and neurological examination
Plot growth parameters
Cardiology evaluation (cardiologist eval, 4 limb BP and echocardiography)
GU evaluation (AUS and renal function studies (serum BUN and Cr levels, urinalysis)
Calcium determination (serum Ca, spot urine Ca, Cr)
Thyroid function tests
Ophthalmologist evaluation
Multidisciplinary evaluation if >2yo
FISH to determine ELN deletion
What are the special considerations for the child diagnosed with Williams syndrome?
Do not give multivitamin or vitamin D and use sunscreen regularly
Perform periodic cardiovascular evaluations
Baseline cardiology evaluation by cardiologists
Screen for HTN
What are the health supervision guidelines in infancy (birth to 1yo) in Williams syndrome?
- Confirm diagnosis with FISH analysis
- Routine health maintenance exams and baseline evaluation
- Growth and development evaluations using Williams syndrome growth charts
- Baseline cardiology evaluation by cardiologist
- review feeding issues
- ophthalmology for strabismus, amblyopia, and refractive errors
- check for inguinal hernia
- hearing at 6 to 12mo as recurrent otitis media common
- BP (both arms) annually and careful evaluation of femoral pulses
- early recognition and management of constipation
- peds anesthesia consult if require surgery
- check: FISH, serum Cr, urinalysis, calcium levels, CaCr ratio, thyroid screen, baseline US of bladder and kidneys
What are the health supervision guidelines for early childhood (1-5yo) for Williams syndrome?
- Annual health maintenance exams and baseline evaluation incld. Careful auscultation of chest and abdomen for murmurs or bruits
- Development and growth evaluation using WS growth chart
- Annual cardiology evaluation from 1-5yo
- feeding issues
- avoid constipation and monitor for rectal prolapse
- annual hearing and vision screening before 3yo
- Ortho issues: evaluate joints, muscle tone, spasticity, hyperactive reflexes
- peds anesthesia consult if require surgery
- annual BP measurements both arms and femoral pulses
- multidisciplinary assessment
- dental referral
- yearly urinalysis
- annual total Calcium q2-3y if level normal
- urinalysis Ca-Cr ratio q2y
- thyroid function q4y
- serum Cr level q4y
- risk for: constipation, otitis media, UTI, feeding issues
What are the health supervision guidelines for late childhood (5-12y) for Williams syndrome?
- Annual health maintenance exams and baseline evaluation
- Development and growth evaluation using WS growth chart
- Annual BP and femoral pulses evaluation
- cardiology evaluation as indicated
- ophthalmology for strabismus and hyperopia
- orthopedic problems
- hearing and vision screening q1y
- peds anesthesia if req surgery
- school readiness and placement and IEP at 5yo
- developmental and psycho educational assessment, formal evaluation for ADHD, anxiety, or both and discussion of treatment options
- yearly urinalysis
- annual total Calcium q4y if level normal
- urinalysis Ca-Cr ratio q2y
- thyroid function q4y
- serum Cr level q2y
What are the health supervision guidelines for adolescence (13-18yo) with Williams syndrome?
- Annual health maintenance and baseline evaluations, BP both arms
- Development and growth evaluation using WS growth charts
- Cardiology evaluation if indicated
- peds anesthesia consult if req surgery
- consider ophthalmology for hyperopia
- orthopedic problems
- hearing and vision screening q1y
- development and psychoeducational assessment
- GI issues: consider diverticulitis and diverticulosis, choleslithiasis, chronic constipation if abdo pain
- screen for GAD
- urinalysis q1y
- thyroid function q4y
- total Ca q4y if asymptomatic
- urinary Ca-Cr ratio q2y
- AUS @ puberty and q5y after
- serum Cr level q2-4y
