{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T07:09:25Z","timestamp":1749798565482,"version":"3.40.5"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T00:00:00Z","timestamp":1612828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Inherited metabolic disorders (IMDs) can present with psychiatric signs that vary widely from one disease to another. This picture is further complicated by the fact that these features occur at very different illness time points, which may further delay appropriate diagnosis and treatment. In this case series of 62 children and adolescents suffering from IMDs, we clustered psychiatric signs (on the basis of the fifth edition of the Diagnostic and Statistical Manual for Mental Disorders classification) as well as impaired cognitive domains (on the basis of the Research Domain Criteriamatrix) according to their mean age of onset (5.7\u2009\u00b1\u20094\u2009years). We observed consistent patterns of occurrence across disorders. Externalizing symptoms, sleep problems, and cross\u2010domain self\u2010regulation deficits were found to precede the IMD diagnosis. Repetitive thoughts and behaviors as well as emotional dysregulation were found to occur around the disease onset. Finally, late\u2010onset features included dissociative or eating disorders, together with impaired emotion knowledge. Clinicians should specifically look for the co\u2010occurrence of age\u2010specific atypical signs, such as treatment resistance or worsening with psychotropic medication in the earliest stages and symptom fluctuation, confusion, catatonia, or isolated visual hallucinations. We believe that the combined characterizations of psychiatric signs and impaired neurocognitive domains may enable the earliest detection of IMDs and the appropriate care of these particular manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Key Points<\/jats:title><jats:p><jats:list list-type=\"bullet\">\n<jats:list-item><jats:p>Psychiatric signs are common in inherited metabolic disorders (IMDs) and may occur in the same age\u2010range as other clinical manifestations.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>Three clusters of psychiatric signs and two clusters of neurocognitive domains can be defined according to their mean age of onset.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>Warning signs to be used in liaison psychiatry should include age\u2010specific cognitive impairments<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12133","type":"journal-article","created":{"date-parts":[[2021,2,10]],"date-time":"2021-02-10T22:13:28Z","timestamp":1612995208000},"page":"29-36","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Onset of psychiatric signs and impaired neurocognitive domains in inherited metabolic disorders: A case series"],"prefix":"10.1002","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3704-2100","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Medjkane","sequence":"first","affiliation":[{"name":"CHU Lille Service de Psychiatrie Enfants et Adolescents, Centre de R\u00e9f\u00e9rence des Maladies Rares \u00e0 Expression Psychiatrique, H\u00f4pital Fontan  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marine","family":"Bohet","sequence":"additional","affiliation":[{"name":"CHU Lille Service de Psychiatrie Enfants et Adolescents, Centre de R\u00e9f\u00e9rence des Maladies Rares \u00e0 Expression Psychiatrique, H\u00f4pital Fontan  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marielle","family":"Ister","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie H\u00f4pital Victor Provo  Roubaix France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3321-7375","authenticated-orcid":false,"given":"David","family":"Cohen","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Psychiatrie Enfants et Adolescents AP\u2010HP, GH Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"},{"name":"Institut des Syst\u00e8mes Intelligents et de Robotiques CNRS UMR\u20107222, UPMC, Sorbonne Universit\u00e9s  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2490-2853","authenticated-orcid":false,"given":"Aesa","family":"Parenti","sequence":"additional","affiliation":[{"name":"CHU Lille Service de Psychiatrie Enfants et Adolescents, Centre de R\u00e9f\u00e9rence des Maladies Rares \u00e0 Expression Psychiatrique, H\u00f4pital Fontan  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majda","family":"Janati","sequence":"additional","affiliation":[{"name":"CHU Lille Service de Psychiatrie Enfants et Adolescents, Centre de R\u00e9f\u00e9rence des Maladies Rares \u00e0 Expression Psychiatrique, H\u00f4pital Fontan  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karine","family":"Mention","sequence":"additional","affiliation":[{"name":"Reference Centre for Inherited Metabolic Diseases in Child and Adulthood, University Children's Hospital Jeanne de Flandre and RADEME  Lille Cedex France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dries","family":"Dobbelaere","sequence":"additional","affiliation":[{"name":"Reference Centre for Inherited Metabolic Diseases in Child and Adulthood, University Children's Hospital Jeanne de Flandre and RADEME  Lille Cedex France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4596-1502","authenticated-orcid":false,"given":"Renaud","family":"Jardri","sequence":"additional","affiliation":[{"name":"CHU Lille Service de Psychiatrie Enfants et Adolescents, Centre de R\u00e9f\u00e9rence des Maladies Rares \u00e0 Expression Psychiatrique, H\u00f4pital Fontan  Lille France"},{"name":"University of Lille, INSERM U\u20101172 CHU Lille, Lille Neuroscience and Cognition Centre (LiNC), Plasticity and Subjectivity team (PSY team)  Lille France"},{"name":"CHU Lille Psychiatry Unit of the Clinical Investigation Centre (CIC\u20101403), CURE Platform, Fontan Hospital  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-49771-5"},{"key":"e_1_2_10_3_1","first-page":"1","article-title":"Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database","volume":"28","author":"Wakap SN","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.7189\/jogh.08.021102"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005685010766"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0661-4"},{"key":"e_1_2_10_7_1","first-page":"1439","volume-title":"Kaplan & Sadock's Comprehensive Textbook of Psychiatry","author":"Walterfang M","year":"2014"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2017.05.011"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pnpbp.2008.02.015"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2017.06.036"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaac.2018.03.020"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-019-0581-5"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.2014.14020138"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0954579418001323"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181a27a16"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.1989.01810120068011"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0419-4"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7396-6"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2018_133"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12083"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0708-6"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.02.007"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2005.00765.x"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2005.00659.x"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcpp.12780"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1080\/15622975.2018.1441548"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-3223(87)90072-2"},{"key":"e_1_2_10_29_1","first-page":"171","article-title":"Psychiatric and behavioral abnormalities in Wilson's disease","volume":"65","author":"Akil M","year":"1995","journal-title":"Adv Neurol"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/tp.2013.76"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2018-1231"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2016.06.020"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12133","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12133","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12133","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T16:19:12Z","timestamp":1693671552000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12133"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,9]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1002\/jmd2.12133"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12133","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"type":"print","value":"2192-8312"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2021,2,9]]},"assertion":[{"value":"2020-02-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}