PMID- 29960699 OWN - NLM STAT- MEDLINE DCOM- 20191106 LR - 20191106 IS - 1527-5418 (Electronic) IS - 0890-8567 (Linking) VI - 57 IP - 7 DP - 2018 Jul TI - Catatonia in Children and Adolescents: A High Rate of Genetic Conditions. PG - 518-525.e1 LID - S0890-8567(18)30228-4 [pii] LID - 10.1016/j.jaac.2018.03.020 [doi] AB - Pediatric catatonia is a rare and severe neuropsychiatric syndrome. We previously reported, in 58 children and adolescents with catatonia, a high prevalence (up to 20%) of medical conditions, some of which have specific treatments.(1) Here we extend the cohort inclusion and report the first systematic molecular genetic data for this syndrome. Among the 89 patients consecutively admitted for catatonia (according to the pediatric catatonia rating scale)(2) between 1993 and 2014, we identify 51 patients (57.3%) who had genetic laboratory testing, of whom 37 had single nucleotide polymorphism (SNP) microarray tests for CNVs and 14 had routine genetic explorations (karyotyping and searches for specific chromosomal abnormalities by fluorescence in situ hybridization [FISH]) or a specific diagnosis test based on clinical history. To assess the causality of observed genetic findings in each patient, we used a causality assessment score (CAUS)(3) including 5 causality-support criteria on a 3-point scale (0 = absent; 1 = moderate; 2 = high): the existence of similar cases in the literature; the presence of a clinical contributing factor; the presence of a biological contributing factor; the presence of other paraclinical symptoms; and response to a specific treatment related to the suspected genetic or medical condition. CI - Copyright (c) 2018 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved. FAU - Raffin, Marie AU - Raffin M AD - Universite Pierre et Marie Curie, Hopital Pitie-Salpetriere, Paris, France. Electronic address: marie.raffin@aphp.fr. FAU - Consoli, Angele AU - Consoli A AD - Universite Pierre et Marie Curie, Hopital Pitie-Salpetriere, Paris, France. FAU - Giannitelli, Marianna AU - Giannitelli M AD - Universite Pierre et Marie Curie, Hopital Pitie-Salpetriere, Paris, France. FAU - Philippe, Anne AU - Philippe A AD - INSERM U1163, Institut Imagine, Universite Rene Descartes, Paris, France. FAU - Keren, Boris AU - Keren B AD - La Pitie-Salpetriere Hospital, Paris, France. FAU - Bodeau, Nicolas AU - Bodeau N AD - Universite Pierre et Marie Curie, Hopital Pitie-Salpetriere, Paris, France. FAU - Levinson, Douglas F AU - Levinson DF AD - Stanford University, CA. FAU - Cohen, David AU - Cohen D AD - Universite Pierre et Marie Curie, Hopital Pitie-Salpetriere, Paris, France; Institut des Systemes Intelligents et Robotiques, Universite Pierre et Marie Curie, Paris, France. FAU - Laurent-Levinson, Claudine AU - Laurent-Levinson C AD - Universite Pierre et Marie Curie, Hopital Pitie-Salpetriere, Paris, France; Stanford University, CA. LA - eng PT - Letter PT - Research Support, Non-U.S. Gov't PL - United States TA - J Am Acad Child Adolesc Psychiatry JT - Journal of the American Academy of Child and Adolescent Psychiatry JID - 8704565 SB - IM MH - Adolescent MH - Catatonia/diagnosis/*genetics MH - Child MH - Female MH - *Genetic Predisposition to Disease MH - Humans MH - Male MH - Polymorphism, Single Nucleotide/genetics EDAT- 2018/07/02 06:00 MHDA- 2019/11/07 06:00 CRDT- 2018/07/02 06:00 PHST- 2018/01/10 00:00 [received] PHST- 2018/03/17 00:00 [revised] PHST- 2018/05/09 00:00 [accepted] PHST- 2018/07/02 06:00 [entrez] PHST- 2018/07/02 06:00 [pubmed] PHST- 2019/11/07 06:00 [medline] AID - S0890-8567(18)30228-4 [pii] AID - 10.1016/j.jaac.2018.03.020 [doi] PST - ppublish SO - J Am Acad Child Adolesc Psychiatry. 2018 Jul;57(7):518-525.e1. doi: 10.1016/j.jaac.2018.03.020.