{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T14:38:55Z","timestamp":1785076735496,"version":"3.55.0"},"reference-count":23,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2014,9,23]],"date-time":"2014-09-23T00:00:00Z","timestamp":1411430400000},"content-version":"unspecified","delay-in-days":145,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:sec id=\"S0317167100017273_abs1\"><jats:title>Background:<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100017273_abs2\"><jats:title>Methods:<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100017273_abs3\"><jats:title>Results:<\/jats:title><jats:p>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\u201310 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.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100017273_abs4\"><jats:title>Conclusions:<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s0317167100017273","type":"journal-article","created":{"date-parts":[[2014,12,2]],"date-time":"2014-12-02T12:02:15Z","timestamp":1417521735000},"page":"333-345","source":"Crossref","is-referenced-by-count":15,"title":["Diagnostic Value of a Multidisciplinary Clinic for Intellectual Disability"],"prefix":"10.1017","volume":"41","author":[{"given":"Clara","family":"van Karnebeek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wynona","family":"Giannasi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Connolly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Stockler-Ipsiroglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2014,9,23]]},"reference":[{"key":"S0317167100017273_ref0019","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/318616"},{"key":"S0317167100017273_ref005","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181f8baad"},{"key":"S0317167100017273_ref003","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2008.07.010"},{"key":"S0317167100017273_ref0016","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.73.suppl_2.ii2"},{"key":"S0317167100017273_ref0011","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182345896"},{"key":"S0317167100017273_ref009","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.11.191"},{"key":"S0317167100017273_ref0012","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.10015"},{"key":"S0317167100017273_ref007","doi-asserted-by":"publisher","DOI":"10.1352\/0895-8017(2005)110[253:EOMRIC]2.0.CO;2"},{"key":"S0317167100017273_ref0015","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35795"},{"key":"S0317167100017273_ref001","volume-title":"Intellectual disability: definition, classification and systems of supports","author":"Shalock","year":"2011"},{"key":"S0317167100017273_ref002","doi-asserted-by":"publisher","DOI":"10.1352\/0047-6765(2001)039<0047:NDACIM>2.0.CO;2"},{"key":"S0317167100017273_ref0023","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35470"},{"key":"S0317167100017273_ref004","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-med-042711-140053"},{"key":"S0317167100017273_ref006","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"S0317167100017273_ref008","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33050"},{"key":"S0317167100017273_ref0010","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-47"},{"key":"S0317167100017273_ref0014","doi-asserted-by":"publisher","DOI":"10.1207\/s15326888chc2404_3"},{"key":"S0317167100017273_ref0017","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21435"},{"key":"S0317167100017273_ref0018","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31416"},{"key":"S0317167100017273_ref0021","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e318232a005"},{"key":"S0317167100017273_ref0022","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.112-2069"},{"key":"S0317167100017273_ref0013","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.74.9.1258"},{"key":"S0317167100017273_ref0020","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03823.x"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167100017273","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,22]],"date-time":"2019-04-22T16:54:51Z","timestamp":1555952091000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167100017273\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["S0317167100017273"],"URL":"https:\/\/doi.org\/10.1017\/s0317167100017273","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5]]}}}