{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T19:14:46Z","timestamp":1781032486929,"version":"3.54.1"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2020,12,19]],"date-time":"2020-12-19T00:00:00Z","timestamp":1608336000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:label\/>\n                  <jats:p>Global developmental delay and intellectual disability (GDD\/ID) affect 3% of the paediatric population. Although inborn errors of metabolism (IEM) are not a common cause of GDD\/ID, early therapeutic intervention can improve neurodevelopmental manifestations. In 2012, a first-tier test panel, including specialized metabolic and routine chemistry tests, was piloted to community-based paediatricians in British Columbia with aims to achieve earlier diagnosis of treatable IEM.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>The aim of this retrospective review was to evaluate the diagnostic yield from these first-tier tests in the 7 years before (2006 to 2012) and after (2013 to 2019) implementation at the community paediatrician level.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Prior and postimplementation diagnostic yield of an IEM from first-tier metabolic testing was 9 out of 986 (0.91%) and 11 out of 4,345 children (0.25%), respectively. Disorders of creatine metabolism and organic acidurias were the most frequently established diagnoses in both time periods. No diagnoses were established through acylcarnitine copper\/ceruloplasmin, lactate, or ammonia testing. Twenty out of 24 patients had specific neurological or other red flag signs in addition to GDD\/ID. Four boys diagnosed with an x-linked creatine transporter defect (CTD) had speech-language delay as the most prominent finding.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The expansion of first-tier metabolic testing to community-based paediatricians in BC did not yield an increase in IEM diagnoses. A modified first-tier test panel should be offered to patients with GDD\/ID, neurologic, and\/or red flag signs. Urine creatine testing in boys with speech-language delay warrants consideration to detect CTD.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/pch\/pxaa112","type":"journal-article","created":{"date-parts":[[2020,12,19]],"date-time":"2020-12-19T16:15:45Z","timestamp":1608394545000},"page":"344-348","source":"Crossref","is-referenced-by-count":10,"title":["Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability"],"prefix":"10.1093","volume":"26","author":[{"given":"Hilary","family":"Vallance","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, BC Children\u2019s Hospital, Vancouver, British Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3815-2005","authenticated-orcid":false,"given":"Graham","family":"Sinclair","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, BC Children\u2019s Hospital, Vancouver, British Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bojana","family":"Rakic","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, BC Children\u2019s Hospital, Vancouver, British Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Stockler-Ipsiroglu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, BC Children\u2019s Hospital, Vancouver, British Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,12,19]]},"reference":[{"issue":"6","key":"2021091719313973700_CIT0001","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1093\/pch\/pxy093","article-title":"Evaluation of the child with global developmental delay and intellectual disability","volume":"23","author":"B\u00e9langer","year":"2018","journal-title":"Paediatr Child Health"},{"issue":"17","key":"2021091719313973700_CIT0002","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1212\/WNL.0b013e3182345896","article-title":"Evidence report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society","volume":"77","author":"Michelson","year":"2011","journal-title":"Neurology"},{"issue":"3","key":"2021091719313973700_CIT0003","doi-asserted-by":"crossref","first-page":"e903","DOI":"10.1542\/peds.2014-1839","article-title":"Comprehensive evaluation of the child with intellectual disability or global developmental delays","volume":"134","author":"Moeschler","year":"2014","journal-title":"Pediatrics"},{"issue":"11","key":"2021091719313973700_CIT0004","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1136\/archdischild-2016-311271","article-title":"Current evidence-based recommendations on investigating children with global developmental delay","volume":"102","author":"Mithyantha","year":"2017","journal-title":"Arch Dis Child"},{"issue":"2","key":"2021091719313973700_CIT0005","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1002\/ana.21435","article-title":"Yield of additional metabolic studies in neurodevelopmental disorders","volume":"64","author":"Engbers","year":"2008","journal-title":"Ann Neurol"},{"issue":"9","key":"2021091719313973700_CIT0006","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1177\/088307380001500909","article-title":"Neurometabolic testing in developmental delay","volume":"15","author":"Papavasiliou","year":"2000","journal-title":"J Child Neurol"},{"issue":"19","key":"2021091719313973700_CIT0007","first-page":"731","article-title":"Biochemical screening for inherited metabolic disorders in the mentally retarded","volume":"60","author":"Henderson","year":"1981","journal-title":"S Afr Med J"},{"issue":"1","key":"2021091719313973700_CIT0008","first-page":"14","article-title":"Screening for inborn errors of metabolism among mentally retarded patients. 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