Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Ritscher-Schinzel Syndrome

SystemEvaluationComment
Constitutional Measure growth parameters.To assess for short stature &/or obesity
Respiratory Consider polysomnogram.In those w/obesity & symptoms of sleep apnea
Craniofacial Clinical assessment for cleft palate &/or micrognathiaConsider referral to craniofacial clinic.
Eyes Ophthalmology evalTo evaluate for eye anomalies & visual acuity
Cardiovascular Echocardiogram to screen for congenital heart defectsConsider referral to cardiologist.
Lipid profile 1To screen for hypercholesterolemia in older children, adolescents, & adults
Renal Renal ultrasoundTo evaluate for structural renal anomalies
Neurologic Neurologic eval
Brain MRI, if not performed as part of initial investigationsStructural brain abnormalities are commonly seen in addition to hydrocephalus.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/ language eval
  • Eval for early intervention / special education
Psychiatric/
Behavioral 		Neuropsychiatric eval
  • For persons age >12 mo
  • Particularly useful at school entry to help formulate an appropriate education plan
Immunologic Immunologic screening 2
  • In those w/repeated bacterial infections
  • Consider referral to immunologist.
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling
Family support/resourcesAssess need for:
1.

Including measurement of total cholesterol, HDL, and LDL cholesterol concentrations. Fasting is not required [Mora 2016].

2.

Including serum immunoglobulin levels and assessment of previous immune responses (e.g., measurement of titers from previous immunizations)

From: Ritscher-Schinzel Syndrome

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