Diagnostic Value of a Multidisciplinary Clinic for Intellectual Disability

Abstract

Background:Identification of the underlying cause of intellectual disability (ID) is important as it improves genetic counselling, management, adaptation; yet its etiologic heterogeneity is challenging and often leads to an expensive work-up.Methods:To improve this diagnostic trajectory, the multidisciplinary Complex Diagnostic Clinic (CDC) was established for ID patients with unexplained complex systemic and/or neurologic features that were referred to the CDC and evaluated by three medical specialists followed by multi-disciplinary rounds. Analyses included surveys and interviews, (retrospective) chart review, costs calculations and comparison.Results:24 children (9 male) were evaluated during seven clinics held over 16 months. The average patient age was 7 years 11 months (range 9 months-18 years). All the children had previously been seen by 2–10 specialist services. The diagnostic yield of the CDC was higher than expected with confirmed and working diagnoses in 11 (46%) and 9 (38%) children respectively. Cost-savings included fewer trips to hospital and fewer tests via more streamlined evaluations. Positive feedback was received from both families and medical professionals.Conclusions:The CDC represents an innovative model of personalized care. Specialist collaboration in the interpretation of relevant clinical, biochemical and genomic data resulted in diagnoses, where none had previously been possible.