{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T22:38:49Z","timestamp":1792708729735,"version":"4.5.0"},"reference-count":26,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,11,1]]},"abstract":"<jats:p>Catatonia is a rare, underdiagnosed syndrome in children. We report the case of a 4-year-old child admitted for recent social withdrawal alternating with psychomotor excitement, verbigeration, and a loss of toilet readiness. He had a history of neonatal seizures, had been stabilized with vigabatrin, and was seizure free without treatment for several months. The pediatric and psychiatric examination revealed motor stereotypes, mannerism, bilateral mydriasis, and visual hallucinations. Laboratory and brain imaging explorations were initially negative. Catatonic symptoms, as measured with the Pediatric Catatonia Rating Scale, significantly decreased after introducing lorazepam, the first-line recommended treatment of this condition. On the basis of the neonatal seizure history, complementary genetic investigations were performed and revealed a mutation in the SCN2A gene, which encodes the voltage-gated sodium channel Nav1.2. Catatonic symptoms progressively disappeared after reintroducing vigabatrin. At the syndromic level, catatonia in young children appears responsive to high-dose lorazepam and is well monitored by using the Pediatric Catatonia Rating Scale. This case reveals the need for wide-ranging explorations in early-onset catatonia because specific targeted treatments might be available.<\/jats:p>","DOI":"10.1542\/peds.2018-1231","type":"journal-article","created":{"date-parts":[[2018,10,31]],"date-time":"2018-10-31T07:27:47Z","timestamp":1540970867000},"source":"Crossref","is-referenced-by-count":13,"title":["Catatonia Associated With a <i>SCN2A<\/i>-Related Disorder in a 4-Year-Old Child"],"prefix":"10.1542","volume":"142","author":[{"given":"Arnaud","family":"Leroy","sequence":"first","affiliation":[{"name":"Laboratoire Sciences Cognitives et Sciences Affectives, Universit\u00e9 de Lille, Lille, France;"},{"name":"Plateforme Centre Universitaire de Recherche et d'Exploration and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Corfiotti","sequence":"additional","affiliation":[{"name":"Service de Psychiatrie de l\u2019Enfant et de l\u2019Adolescent, Centre de Comp\u00e9tence Maladies Rares \u00e0 Expression Psychiatriques et Schizophr\u00e9nie \u00e0 D\u00e9but Pr\u00e9coce, H\u00f4pital Fontan and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Nguyen The Tich","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie, H\u00f4pital Salengro, Centre Hospitalier R\u00e9gional Universitaire de Lille, Lille, France; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Ferrafiat","sequence":"additional","affiliation":[{"name":"Centre Comp\u00e9tence Maladies Rares \u00e0 Expression Psychiatrique et Schizophr\u00e9nie \u00e0 D\u00e9but Pr\u00e9coce, Centre Hospitalier Universitaire de Rouen, Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Amad","sequence":"additional","affiliation":[{"name":"Laboratoire Sciences Cognitives et Sciences Affectives, Universit\u00e9 de Lille, Lille, France;"},{"name":"Plateforme Centre Universitaire de Recherche et d'Exploration and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renaud","family":"Jardri","sequence":"additional","affiliation":[{"name":"Laboratoire Sciences Cognitives et Sciences Affectives, Universit\u00e9 de Lille, Lille, France;"},{"name":"Plateforme Centre Universitaire de Recherche et d'Exploration and"},{"name":"Service de Psychiatrie de l\u2019Enfant et de l\u2019Adolescent, Centre de Comp\u00e9tence Maladies Rares \u00e0 Expression Psychiatriques et Schizophr\u00e9nie \u00e0 D\u00e9but Pr\u00e9coce, H\u00f4pital Fontan and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Medjkane","sequence":"additional","affiliation":[{"name":"Service de Psychiatrie de l\u2019Enfant et de l\u2019Adolescent, Centre de Comp\u00e9tence Maladies Rares \u00e0 Expression Psychiatriques et Schizophr\u00e9nie \u00e0 D\u00e9but Pr\u00e9coce, H\u00f4pital Fontan and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2018,11,1]]},"reference":[{"issue":"441","key":"2021121014572631900_B1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/acps.12038","article-title":"Rediscovering catatonia: the biography of a treatable syndrome.","author":"Fink","year":"2013","journal-title":"Acta Psychiatr Scand Suppl"},{"issue":"6","key":"2021121014572631900_B2","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.mehy.2010.07.029","article-title":"The study of pediatric catatonia supports a home of its own for catatonia in DSM-5.","volume":"75","author":"Dhossche","year":"2010","journal-title":"Med Hypotheses"},{"issue":"1\u20133","key":"2021121014572631900_B3","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.schres.2012.02.012","article-title":"Medical and developmental risk factors of catatonia in children and adolescents: a prospective case-control study.","volume":"137","author":"Consoli","year":"2012","journal-title":"Schizophr Res"},{"issue":"5","key":"2021121014572631900_B4","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1093\/brain\/awx054","article-title":"Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.","volume":"140","author":"Wolff","year":"2017","journal-title":"Brain"},{"issue":"2\u20133","key":"2021121014572631900_B5","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.schres.2016.06.020","article-title":"Validation of the Pediatric Catatonia Rating Scale (PCRS).","volume":"176","author":"Benarous","year":"2016","journal-title":"Schizophr Res"},{"key":"2021121014572631900_B6","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2017.06.036","article-title":"A causality algorithm to guide diagnosis and treatment of catatonia due to autoimmune conditions in children and adolescents [published online ahead of print June 25, 2017].","author":"Ferrafiat","journal-title":"Schizophr Res"},{"key":"2021121014572631900_B7","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2017.07.028","article-title":"Catatonia in children and adolescents: new perspectives [published online ahead of print July 25, 2017].","author":"Benarous","journal-title":"Schizophr Res"},{"issue":"3","key":"2021121014572631900_B8","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1176\/appi.ajp.2007.07081246","article-title":"ECT for catatonia in an autistic girl.","volume":"165","author":"Wachtel","year":"2008","journal-title":"Am J Psychiatry"},{"issue":"8","key":"2021121014572631900_B9","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1097\/00004583-199908000-00021","article-title":"Case series: catatonic syndrome in young people.","volume":"38","author":"Cohen","year":"1999","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"issue":"3","key":"2021121014572631900_B10","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1002\/mpr.224","article-title":"Rating catatonia in patients with chronic schizophrenia: Rasch analysis of the Bush-Francis Catatonia Rating Scale.","volume":"16","author":"Wong","year":"2007","journal-title":"Int J Methods Psychiatr Res"},{"key":"2021121014572631900_B11","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.mehy.2018.02.009","article-title":"Molecular hypotheses to explain the shared pathways and underlying pathobiological causes in catatonia and in catatonic presentations in neuropsychiatric disorders.","volume":"113","author":"Peter-Ross","year":"2018","journal-title":"Med Hypotheses"},{"issue":"9","key":"2021121014572631900_B12","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1016\/j.ejmg.2016.08.003","article-title":"Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.","volume":"59","author":"Breckpot","year":"2016","journal-title":"Eur J Med Genet"},{"key":"2021121014572631900_B13","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1186\/s12888-015-0490-1","article-title":"Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports.","volume":"15","author":"Serret","year":"2015","journal-title":"BMC Psychiatry"},{"issue":"3","key":"2021121014572631900_B14","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/j.psym.2016.01.007","article-title":"How anti-NMDAR encephalitis sheds light on the mechanisms underlying catatonia: the neural excitatory\/inhibitory imbalance model.","volume":"57","author":"Parenti","year":"2016","journal-title":"Psychosomatics"},{"issue":"7","key":"2021121014572631900_B15","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1136\/jnnp-2012-303807","article-title":"Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens.","volume":"84","author":"Hacohen","year":"2013","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"2021121014572631900_B16","doi-asserted-by":"crossref","first-page":"e130","DOI":"10.1212\/NXI.0000000000000130","article-title":"Earlier treatment of NMDAR antibody encephalitis in children results in a better outcome.","volume":"2","author":"Byrne","year":"2015","journal-title":"Neurol Neuroimmunol Neuroinflamm"},{"issue":"1","key":"2021121014572631900_B17","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/ana.21756","article-title":"Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in children and adolescents.","volume":"66","author":"Florance","year":"2009","journal-title":"Ann Neurol"},{"issue":"2","key":"2021121014572631900_B18","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S1474-4422(12)70310-1","article-title":"Treatment and prognostic factors for long-term outcome in patients with anti-NMDA receptor encephalitis: an observational cohort study.","volume":"12","author":"Titulaer","year":"2013","journal-title":"Lancet Neurol"},{"issue":"8","key":"2021121014572631900_B19","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1007\/s00415-015-7781-9","article-title":"Treatment and outcome of children and adolescents with N-methyl-D-aspartate receptor encephalitis.","volume":"262","author":"Zekeridou","year":"2015","journal-title":"J Neurol"},{"issue":"1","key":"2021121014572631900_B20","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.ejpn.2011.07.005","article-title":"Successful treatment of two paediatric cases of anti-NMDA receptor encephalitis with cyclophosphamide: the need for early aggressive immunotherapy in tumour negative paediatric patients.","volume":"16","author":"Kashyape","year":"2012","journal-title":"Eur J Paediatr Neurol"},{"issue":"3","key":"2021121014572631900_B21","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1097\/WCO.0000000000000443","article-title":"Autoimmune encephalitis in children: clinical phenomenology, therapeutics, and emerging challenges.","volume":"30","author":"Dale","year":"2017","journal-title":"Curr Opin Neurol"},{"issue":"11","key":"2021121014572631900_B22","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1212\/WNL.0b013e3182a43e57","article-title":"Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.","volume":"81","author":"Nakamura","year":"2013","journal-title":"Neurology"},{"issue":"4","key":"2021121014572631900_B23","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1620\/tjem.232.277","article-title":"Reduction in glutamine\/glutamate levels in the cerebral cortex after adrenocorticotropic hormone therapy in patients with west syndrome.","volume":"232","author":"Munakata","year":"2014","journal-title":"Tohoku J Exp Med"},{"issue":"192","key":"2021121014572631900_B24","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/j.1600-0404.2011.01596.x","article-title":"Mechanism of action of vigabatrin: correcting misperceptions.","author":"Ben-Menachem","year":"2011","journal-title":"Acta Neurol Scand Suppl"},{"issue":"1","key":"2021121014572631900_B25","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s40272-012-0005-1","article-title":"Clinical management of seizures in newborns: diagnosis and treatment.","volume":"15","author":"van Rooij","year":"2013","journal-title":"Paediatr Drugs"},{"key":"2021121014572631900_B26","doi-asserted-by":"crossref","first-page":"181","DOI":"10.3389\/fpsyt.2014.00181","article-title":"A clinical review of the treatment of catatonia.","volume":"5","author":"Sienaert","year":"2014","journal-title":"Front Psychiatry"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/doi\/10.1542\/peds.2018-1231\/1066901\/peds_20181231.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/doi\/10.1542\/peds.2018-1231\/1066901\/peds_20181231.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T04:29:12Z","timestamp":1639196952000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/142\/5\/e20181231\/38601\/Catatonia-Associated-With-a-SCN2A-Related-Disorder"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,1]]},"references-count":26,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2018,11,1]]},"published-print":{"date-parts":[[2018,11,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2018-1231","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,1]]},"article-number":"e20181231"}}