Recommendations for Health Supervision for Children With WAGR Syndrome

Evaluations/examinations: infancy to adolescence
    Assess the child with sporadic aniridia for WAGR syndrome using a combination of high-resolution chromosome study and molecular cytogenetic fluorescence in situ hybridization
    Assess for abdominal masses. Continue renal ultrasound for Wilms’ tumor at 3-mo intervals from birth until at least age 6 and physical examination every 6 months until age 8. Surveillance for Wilms’ tumor, including abdominal palpation and assessment for hematuria and/or hypertension, should continue indefinitely.
    Assess for hypotonia, hypertonia, movement disorders, and scoliosis.
    Assess frequency/duration of otitis media/respiratory tract infections. Modify treatment plan as needed.
    Assess for nephropathy at each office visit, beginning in early childhood. Proteinuria and/or hypertension may occur well before changes in serum creatinine and blood urea nitrogen are noted and should prompt referral to nephrology.
    Assess female patients for streak ovaries with pelvic ultrasound and/or MRI.
    Assess for symptoms of obstructive sleep apnea.
    Assess nutritional status, with particular attention to weight management.
    Begin assessment for symptoms of behavioral or psychiatric disorders by age 2.
    If patient is posttreatment for Wilms’ tumor, then obtain appropriate laboratory/imaging studies (Table 4)
Anticipatory guidance
    Establish a medical home. Emphasize role of the family as partners in the ongoing management of medical care of the child.
    Teach caregivers importance of regular ultrasound screening and how to perform abdominal palpation between office visits.
    Facilitate entrance into early intervention services.
    Discuss special education, and review school and classroom placement.
    Review availability of local, state, and national resources for children with disabilities.
    Discuss issues of transition to adulthood, including vocational training and independent living options.