{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T17:01:19Z","timestamp":1788454879512,"version":"build-2803163510"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,3,31]],"date-time":"2016-03-31T00:00:00Z","timestamp":1459382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008062","name":"Fundaci\u00f3n Alicia Koplowitz","doi-asserted-by":"publisher","award":["PCP00024"],"award-info":[{"award-number":["PCP00024"]}],"id":[{"id":"10.13039\/100008062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["GM082773"],"award-info":[{"award-number":["GM082773"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To perform metabolic testing on 406 patients (age range 3\u201322y [mean 6.71, <jats:styled-content style=\"fixed-case\">SD<\/jats:styled-content> 4.15], 343 males and 63 females) with nonsyndromic autism spectrum disorders (<jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content>) to assess the diagnostic yield. In addition, we reviewed our hospital's clinical database of 8500 patients who had undergone metabolic testing to be identified for inborn errors of metabolism (<jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content>), and described the characteristics of those with <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content> and nonsyndromic <jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Neuropsychological evaluation included the Social Communication Questionnaire and Child Behavior Checklist. For metabolic testing\/screening, urine samples were analyzed for the diagnosis of cerebral creatine deficiency syndromes, purine and pyrimidine disorders, amino acid metabolism defects, mucopolysaccharidoses, and organic acidurias.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The 406 recruited participants fulfilled the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (<jats:styled-content style=\"fixed-case\">DSM<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>) criteria of <jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content>. No biochemical evidence of a metabolic disorder was detected in any of the 406 patients studied. Concerning the retrospective evaluation from the 8500 who had metabolic testing, 464 individuals had a diagnosis of an <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content> (394 without the diagnosis of <jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content> and 70 with <jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content> diagnosis). Only one individual with <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content> had a diagnosis of nonsyndromic <jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content> at the time of the metabolic study; the metabolic testing had revealed diagnosis of urea\u2010cycle disorder.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Metabolic testing should be considered in the work\u2010up of individuals with syndromic <jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content>, but metabolic testing is not cost\u2010effective for individuals with nonsyndromic <jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.13114","type":"journal-article","created":{"date-parts":[[2016,4,2]],"date-time":"2016-04-02T17:13:09Z","timestamp":1459617189000},"page":"842-847","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders"],"prefix":"10.1111","volume":"58","author":[{"given":"Jaume","family":"Campistol","sequence":"first","affiliation":[{"name":"Pediatric Neurology and Clinical Biochemistry Departments Institut de Recerca Pedi\u00e1trica Hospital Sant Joan de D\u00e9u and CIBERER\u2013ISCIII Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"D\u00edez\u2010Juan","sequence":"additional","affiliation":[{"name":"Unidad Especializada en Trastornos del Desarrollo Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Callej\u00f3n","sequence":"additional","affiliation":[{"name":"Unidad Especializada en Trastornos del Desarrollo Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aroa","family":"Fernandez\u2010De Miguel","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Clinical Biochemistry Departments Institut de Recerca Pedi\u00e1trica Hospital Sant Joan de D\u00e9u and CIBERER\u2013ISCIII Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Casado","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Clinical Biochemistry Departments Institut de Recerca Pedi\u00e1trica Hospital Sant Joan de D\u00e9u and CIBERER\u2013ISCIII Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angels","family":"Garcia Cazorla","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Clinical Biochemistry Departments Institut de Recerca Pedi\u00e1trica Hospital Sant Joan de D\u00e9u and CIBERER\u2013ISCIII Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reymundo","family":"Lozano","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment Departments of Genetics and Genomic Sciences, Psychiatry, and Pediatrics Icahn School of Medicine at Mount Sinai New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Artuch","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Clinical Biochemistry Departments Institut de Recerca Pedi\u00e1trica Hospital Sant Joan de D\u00e9u and CIBERER\u2013ISCIII Barcelona 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