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Catatonia is a psychomotor syndrome which may occur in a wide variety of medical, neurological, and psychiatric conditions. In pediatrics, this condition is rare and is associated with high morbidity and mortality if not correctly diagnosed and treated. Catatonia in obsessive-compulsive disorder is an infrequent association that has been understudied and underdiagnosed. To add to the knowledge on this unusual clinical presentation, two pediatric patients are reported and discussed together with the other two cases described in the literature. These four cases in total of catatonia associated with OCD confirm that it is a relationship that is infrequently reported, possibly because of lack of awareness in clinicians that catatonia can also be caused by OCD, and because the similarity between some catatonic signs and some compulsive phenomena may compound the identification of the former. Most cases of catatonia in this small series seemed to have responded to the optimization of the treatment for OCD. This highlights the clinical importance of an accurate diagnosis of catatonia when associated with OCD.

Pharmacological treatments used for psychiatric disorders, such as clozapine, demonstrate large interindividual variability in terms of possible adverse effects and therapeutic benefit. This variability can be explained by multiple factors, including pharmacogenetic factors. Clozapine efficacy can be impacted by CYP polymorphisms. A growing body of literature on pharmacogenetics suggests the clinical benefit of concomitant use of clozapine and fluvoxamine to improve global pharmacotherapeutic management. This article reviews and discusses available clinical and pharmacological data and limitations of clozapine augmentation with fluvoxamine based on pharmacogenetic rationale and clinical experience. The aim is to provide an updated approach on how to use the pharmacological and pharmacogenetic profile to improve clozapine efficacy and tolerance in severely ill patients.

Patients with autoimmune encephalitis (AE) are likely to exhibit an acute onset of severe psychiatric features, including psychosis and/or catatonia. Based on the high prevalence of catatonia in AE and our clinical experience, we hypothesized that catatonia might be a marker of severity requiring more aggressive treatment approaches.To reach a sufficient number of cases with brain-autoimmune conditions, we pooled two samples (N = 58): the first from the French National Network of Rare Psychiatric diseases and the second from the largest Italian neuro-pediatrics center for encephalopathies. Autoimmune conditions were diagnosed using a multidisciplinary approach and numerous paraclinical investigations. We retrospectively compared patients with and without catatonia for psychiatric and non-psychiatric clinical features, biological and imaging assessments, type of immunotherapy used and outcomes.The sample included 25 patients (43%) with catatonia and 33 (57%) without catatonia. Forty-two patients (72.4%) had a definite AE (including 27 anti-NMDA receptor encephalitis) and 16 (27.6%) suspected autoimmune encephalitis. Patients with catatonia showed significantly more psychotic features [18 (72%) vs 9 (27.3%), p 0.001)] and more movement disorders [25 (100%) vs 20 (60.6%), p 0.001] than patients without catatonia. First line (corticoids, immunoglobulin and plasma exchanges) and second line (e.g., rituximab) therapies were more effective in patients with catatonia, with 24 (96%) vs 22 (66.7%) (p = 0.006) and 17 (68%) vs 9 (27.3%) (p = 0.002), respectively. However, those with catatonia received more combinations of first and second line treatments and had more relapses during outcomes.Despite its exploratory design, the study supports the idea that autoimmune catatonia may be a marker of severity and morbidity in terms of initial presentation and relapses, requiring the need for early and aggressive treatment.

Key Clinical Message We present a case of ring chromosome 20 syndrome in a twelve‐year‐old girl, with resistant epileptic disease and severe behavioral impairment that both drastically improved after a lithium challenge. If replicated, this could support the use of lithium as a safe treatment in the management of this severe phenotype.

Objectives Pediatric catatonia is a rare and life-threatening syndrome. Around 20% of juvenile catatonia is associated with organic condition (Consoli et al., 2012). Autoimmune conditions represent a diagnostic and therapeutic challenge since specific antibodies can be missed. To facilitate decision making, we recently formulated a causality assessment score (CAUS) using a stepwise approach and an immunosuppressive therapeutic challenge (Ferrafiat et al., 2016). Our objectives were to validate retrospectively CAUS and to define its threshold for an accurate distinction between organic catatonia and non-organic catatonia, and specifically between autoimmune catatonia and non-organic catatonia. Method To obtain a sufficient number of cases with organic catatonia, we pooled two samples ( N = 104) – one from a child psychiatry center, the other from neuro-pediatrics center – expert in catatonia and autoimmune conditions. Organic conditions were diagnosed using a multidisciplinary approach and numerous paraclinical investigations. Given the binary classification needs, we used receiver operating characteristic (ROC) analysis (Peacock and Peacock, 2010) to calculate the best classification threshold. Results The cohort included 67 cases of non-organic catatonia and 37 cases of organic catatonia. ROC analysis showed that the CAUS performance in discriminating both organic catatonia vs. non-organic catatonia, and autoimmune catatonia vs. non-organic catatonia was excellent (Area Under the Curve = 0.99). In both analyses, for a CAUS threshold ≥ 5, accuracy equaled to 0.96. Conclusion Regarding juvenile catatonia, the use of the CAUS score algorithm combining a therapeutic challenge and a threshold ≥ 5 may help to diagnose and treat autoimmune conditions even without formal identification of auto-antibodies.

Introduction Catatonia is a rare and severe psychomotor condition in children and adolescents. In the current report, we aimed to review the recent literature. Method Using a PRISMA approach, we searched MEDLINE between 1982 and 2017 using the keywords ‘CATATONIA’ and ‘CHILD’ or ‘ADOLESCENT’. In total, we reviewed 130 reports (controlled study, N = 4; clinical chart, N = 23; case report, N = 54; and editorial/review, N = 42). Results Several aspects seem to be age specific: (1) although the clinical presentation resembles that in adults, some symptoms are important in children and adolescents (e.g., psychomotor regression). (2) Associated disorders are similar to that found in adults; however, schizophrenia is more frequently observed than mood disorder. Additionally, a history of neurodevelopmental disorders maybe encountered. (3) Morbidity and mortality are among the worst in child psychiatry. (4) Underlying organic conditions are highly prevalent (> 20% of the cases), and their search is warranted because some diagnoses may result in specific treatments (e.g., immune-suppressor therapy for autoimmune conditions). (5) Symptomatic approaches – high dose of benzodiazepines and electroconvulsive therapy (ECT) – are as efficient in children or adolescents as they are in adults, but this finding needs to be acknowledged because a resistance against the use of ECT or high-dose medication exists among child psychiatrists. Discussion Recent advances in child and adolescent catatonia research have offered major improvements in understanding catatonia and in new therapeutic opportunities. The syndrome is rare, but these advances need to be acknowledged in order to direct patients to centers that have developed a specific expertise.

Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia defined as onset before age of 13. Here we report on two unrelated cases diagnosed with both COS and alternating hemiplegia of childhood (AHC), and for whom two distinct pathogenic de novo variants were identified in the ATP1A3 gene. ATP1A3 encodes the α-subunit of a neuron-specific ATP-dependent transmembrane sodium–potassium pump. Using whole exome sequencing (WES) data derived from a cohort of 17 unrelated COS cases, we also examined ATP1A3 and all of its interactors known to be expressed in the brain to establish if variants could be identified. This led to the identification of a third case with a possibly damaging missense mutation in ATP1A3 and three others cases with predicted pathogenic missense variants in the FXYD gene family (FXYD1, FXYD6 and FXYD6-FXYD2 readthrough). FXYD genes encode proteins that modulate the ATP-dependant pump function. This report is the first to identify variants in the same pathway for COS. Our COS study illustrates the interest of stratifying a complex condition according to the age of onset for the identification of deleterious variants. Whereas ATP1A3 is a replicated gene in rare neuropediatric diseases, this gene has previously been linked with COS in only one case report. The association with rare variants in FXYD gene family is novel and highlights the interest of exploring these genes in COS as well as in pediatric neurodevelopmental disorders.

RESUME Le syndrome catatonique est un syndrome psychomoteur rare chez l’enfant et l’adolescent. Bien que sa presentation soit proche de celle de l’adulte, certains symptomes sont importants chez l’enfant et l’adolescent (par exemple les signes de regression au plan du developpement). Les pathologies psychiatriques associees sont les memes que celles retrouvees chez l’adulte. Neanmoins, on retrouve plus souvent une schizophrenie qu’un trouble de l’humeur, et on a souvent des antecedents de trouble du neurodeveloppement. La morbidite et la mortalite sont parmi les pires rencontrees en psychiatrie de l’enfant. Une pathologie organique sous-jacente est tres frequente (jusque 20 % des cas), et sa recherche doit etre systematique car elle peut conduire a un traitement specifique (par exemple traitements immunosuppresseurs en cas de maladie auto-immune). Les traitements symptomatiques (posologies elevees de benzodiazepines et electro-convulsivo-therapie, ECT) sont aussi efficaces que chez l’adulte, mais doivent etre mieux connus des cliniciens psychiatres d’enfant qui hesitent a les utiliser.

Wiggins et al.1 recently used data from 3 longitudinal studies spanning preschool and early school children to form an empirically derived framework for early childhood disruptive mood dysregulation disorder (EC-DMDD), ie, a theoretical entity based on all DMDD criteria except the age at onset. The authors showed that the presence of EC-DMDD strongly predicted irritability-related syndromes at early school-ages. The most striking result is that virtually all youths with DMDD had chronic irritability in preschool years (>99%), a finding that challenges the view that DMDD cannot be diagnosed before 6 years of age. In our opinion, the developmental view on DMDD adopted by the authors is particularly welcome to address some of the nosological issues encountered with this disorder.

Resume Les pathologies auto-immunes sont de plus en plus observees, decrites et reconnues chez les enfants et les adolescents, que ce soit des maladies comme le lupus erythemateux dissemine (LED), les thyroidites auto-immunes, ou les encephalites auto-immunes dont les formes sont volontiers plus severes et plus agressives que celle decrites chez l’adulte. L’aspect psychiatrique de ces tableaux cliniques est souvent au premier plan. En effet, les symptomes psychiatriques sont nombreux, aigus, severes, ubiquitaires et pour la plupart atypiques. En consequence, de nombreux patients atteints de pathologies auto-immunes sous-jacentes sont pris en charge en pedopsychiatrie devant l’apparition brutale et bruyante de symptomes psychiatriques. Parmi ces symptomes figure la catatonie de l’enfant et l’adolescent qui prend une place particuliere. L’objet de cet article est de presenter des exemples de pathologies auto-immunes pouvant conduire a des tableaux psychiatriques chez l’enfant et l’adolescent, a travers une revue de la litterature. Nous detaillerons egalement le type de symptomes neuropsychiatriques rencontres dans ces pathologies auto-immunes, ainsi que le role important de la catatonie comme symptome de « porte d’entree ». Puis enfin nous aborderons les aspects et les enjeux diagnostiques et therapeutiques de ces pathologies. Notre discussion est illustree par deux vignettes cliniques.

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.

L'état de stress post-traumatique (ESPT) est un trouble psychiatrique fréquent en population adulte et pédiatrique, dont la prévalence en France est estimée à 0,7%. Un traitement médicamenteux s'avère souvent nécessaire dans le cas de cette pathologie, au vu de la sévérité de la symptomatologie et de son impact sur la qualité de vie des patients. Actuellement, il n'existe pas de recommandations en matière de thérapeutique médicamenteuse de l'ESPT pédiatrique, les études portant sur ce sujet sont peu nombreuses et les options thérapeutiques restent limitées. L'intérêt des traitements anti-adrénergiques, dont la Prazosine, est de plus en plus étudié dans cette pathologie et semblent montrer une bonne tolérance et une efficacité significative, particulièrement sur les cauchemars et les troubles du sommeil, et ce, quel que soit l'âge du patient. Ce travail de thèse a pour but de présenter, à travers l'étude d'une série de cas ayant été hospitalisés sur l'unité d'hospitalisation de psychiatrie de l'enfant et de l'adolescent du Centre Hospitaliser du Rouvray, l'utilisation de la Prazosine et de son intérêt dans la prise en charge des cauchemars et des troubles du sommeil de l'ESPT pédiatrique. Au vu de l'amélioration symptomatologique des patients, la Prazosine semble être un traitement pertinent dans les cas d'ESPT de l'enfant et de l'adolescent mais d'autres études sont nécessaires afin de poursuivre l'évaluation de son efficacité.

Les maladies auto-immunes peuvent avoir une expression psychiatrique. Les troubles psychiatriques présentés par les patients peuvent être sévères. Il peut s’agir par exemple d’un délire, d’hallucinations, d’un épisode maniaque, d’un trouble dépressif résistant ou récurrent. Ces troubles psychiatriques sont parfois inauguraux ou au premier plan, ce qui peut conduire à des erreurs diagnostiques et thérapeutiques préjudiciables pour le patient. Les symptômes psychiatriques évocateurs d’une organicité sont souvent atypiques. Il s’agit d’hallucinations visuelles prégnantes, d’une fluctuation des symptômes psychiatriques, d’une résistance au traitement antipsychotique usuel, d’une catatonie associée. Par ailleurs, l’association de ces troubles à des signes de régression cognitive, touchant souvent la mémoire et le langage, doit alerter le clinicien. Le risque vital et le risque de séquelles cognitives constituent un enjeu de taille pour la vie du patient. L’objectif de cette thèse est de mener une réflexion sur l’enjeu diagnostic et thérapeutique dans ces maladies auto-immunes à expression psychiatrique, chez l’enfant et l’adolescent, d’abord par une revue exhaustive de la littérature sur le neurolupus, l’encéphalite anti-NMDA, l’encéphalite de Hashimoto, ensuite par un approfondissement de la catatonie en tant que syndrome d’une importance majeure dans le raisonnement diagnostique et thérapeutique de part son lien fort entre psychiatrie et organicité. Deux cas cliniques pédiatriques illustratifs sont rapportés. Un algorithme décisionnel sur démarche diagnostique et thérapeutique de l’encéphalite auto-immune est proposé. Les examens paracliniques doivent être larges et répétés, parfois invasifs (ponction lombaire). Cependant, l’identification des anticorps spécifiques de la maladie n’étant pas toujours possible, elle ne devrait pas constituer un critère diagnostic exclusif. L’enjeu diagnostic est donc de récolter un faisceau d’arguments cliniques et paracliniques forts en faveur du diagnostic d’encéphalite auto-immune. Un traitement d’épreuve, par exemple par corticoïdes, pourrait représenter un argument intéressant dans certains cas. Dans 30 à 40% des cas, les symptômes sont résistants au traitement de première ligne par corticothérapie. Des traitements immunosuppresseurs plus agressifs ont démontré un bénéfice dans ces situations, malgré les risques liés à leur éventuelle toxicité. La précocité du traitement immunologique et son efficacité conditionnent le pronostic cognitif.