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Diagnostic Value of a Multidisciplinary Clinic for Intellectual Disability

Published online by Cambridge University Press:  23 September 2014

Clara van Karnebeek ,
Tyler Murphy ,
Wynona Giannasi ,
Marion Thomas ,
Mary Connolly  and
Sylvia Stockler-Ipsiroglu
Clara van Karnebeek*
Affiliation:
Division of Biochemical Diseases, TIDE-BC, B.C. Children's Hospital, University of British Columbia, B.C., Canada
Tyler Murphy
Affiliation:
Division of Pediatric Neurology, TIDE-BC, B.C. Children's Hospital, University of British Columbia, B.C., Canada
Wynona Giannasi
Affiliation:
Howe Consulting Group, TIDE-BC, B.C. Children's Hospital, University of British Columbia, B.C., Canada
Marion Thomas
Affiliation:
Department of Medical Genetics, TIDE-BC, B.C. Children's Hospital, University of British Columbia, B.C., Canada
Mary Connolly
Affiliation:
Division of Pediatric Neurology, TIDE-BC, B.C. Children's Hospital, University of British Columbia, B.C., Canada
Sylvia Stockler-Ipsiroglu
Affiliation:
Division of Biochemical Diseases, TIDE-BC, B.C. Children's Hospital, University of British Columbia, B.C., Canada
*
*University of British Columbia, Centre for Molecular Medicine and Therapeutics, TIDE-BC, Division of Biochemical Diseases, Department of Pediatrics, B.C. Children's Hospital, Room K3-201, 4480 Oak Street, Vancouver B.C. V6H 3V4, Canada. Email: cvankarnebeek@cw.bc.ca
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Abstract

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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.

Type
Original Article
Information
Canadian Journal of Neurological Sciences , Volume 41 , Issue 3 , May 2014 , pp. 333 - 345
Copyright
Copyright © The Canadian Journal of Neurological 2014

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