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The acute response after a terror attack may have a crucial impact on the physical and psychological wellbeing of the victims. Preparedness of the professionals involved in the acute response is a key element to ensure effective interventions, and can be improved through trainings. Today in Europe there is a recognized lack of inter-professional and international trainings, which are important, among others, to respond to the needs and the rights of victims affected by a terrorist attack in another country than their home country. In this paper we report the perspectives of an expert panel composed by different categories of professionals on the possible role of interprofessional trainings provided remotely. The experts discussed the pertinence of remote trainings for professionals involved in the acute response of a terror attack, and highlighted their Strengths, Weaknesses, Opportunities and Threats (SWOT analysis). We concluded that, while remote trainings cannot replace in-person trainings, they may be useful to share knowledge about the role and the organization of the different categories of professionals, thus potentially improving response coordination, and to easily share good practices across professionals and countries.

Background: Intellectual disability and impaired adaptive functioning are common in children with cerebral palsy, but there is a lack of studies assessing these issues in teenagers with cerebral palsy. Therefore, the aim of this study was to develop and test a predictive machine learning model to identify factors associated with intellectual disability in teenagers with cerebral palsy. Methods: This was a multicenter controlled cohort study of 91 teenagers with cerebral palsy (53 males, 38 females; mean age ± SD = 17 ± 1 y; range: 12-18 y). Data on etiology, diagnosis, spasticity, epilepsy, clinical history, communication abilities, behaviors, motor skills, eating, and drinking abilities were collected between 2005 and 2015. Intellectual disability was classified as “mild,” “moderate,” “severe,” or “profound” based on adaptive functioning, and according to the DSM-5 after 2013 and DSM-IV before 2013, the Wechsler Intelligence Scale for Children for patients up to ages 16 years, 11 months, and the Wechsler Adult Intelligence Scale for patients ages 17-18. Statistical analysis included Fisher’s exact test and multiple logistic regressions to identify factors associated with intellectual disability. A predictive machine learning model was developed to identify factors associated with having profound intellectual disability. The guidelines of the “Transparent Reporting of a Multivariable Prediction Model for Individual Prognosis or Diagnosis Statement” were followed. Results: Poor manual abilities ( P ≤ .001), gross motor function ( P ≤ .001), and type of epilepsy (intractable: P = .04; well controlled: P = .01) were significantly associated with profound intellectual disability. The average model accuracy, specificity, and sensitivity was 78%. Conclusion: Poor motor skills and epilepsy were associated with profound intellectual disability. The machine learning prediction model was able to adequately identify high likelihood of severe intellectual disability in teenagers with cerebral palsy.

Background FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or connective tissue disorders (CTD) have regularly been associated. We aimed at refining the description of CV and CTD features in patients with FLNA LoF and depicting the multisystemic nature of this condition. Methods We retrospectively evaluated FLNA variants and clinical presentations in FLNA LoF patient with at least one CV or CTD feature, from three cohorts: ten patients from the French Reference Center for Rare Vascular Diseases, 23 patients from the national reference diagnostic lab for filaminopathies-A, and 59 patients from literature review. Results Half of patients did not present neurological symptoms. Most patients presented a syndromic association combining CV and CTD features. CV anomalies, mostly aortic aneurysm and/or dilation were present in 75% of patients. CTD features were present in 75%. Variants analysis demonstrated an enrichment of coding variants in the CH1 domain of FLNA protein. Conclusion In FLNA LoF patients, the absence of seizures should not be overlooked. When considering a diagnosis of PVNH1, the assessment for CV and CTD anomalies is of major interest as they represent interlinked features. We recommend systematic study of FLNA within CTD genes panels, regardless of the presence of neurological symptoms.

Patients with Autism Spectrum Disorders have communication and social interaction deficits. Emotion is governed by a network of brain circuits necessary for us to perceive and feel emotions. These areas of the brain seem to be poorly stimulated in people with ASD. These present great difficulties in perceiving and producing emotions, whatever the modalities (visual, gestural, vocal). This is why for several years now, and thanks to digital progress, more and more serious games targeting people with ASD have emerged. Therefore we found it interesting to explore the link between the capacities for recognizing emotions and those for production in this population, by considering low-level skills and high-level skills separately. We hypothesized that emotional production capacities were potentially linked to the recognition capacities of these same emotions. Then we did a retrospective study, correlating the scores of the participants during the initial neuropsychological assessment and the successes obtained when using JEMImE. Our results have shown that emotional recognition has no impact on the ability to reproduce emotion in imitation. However, we obtained a positive correlation between the recognition score and that of production in mime situation, both for tasks without context and for contextual tasks. There is also a positive correlation between the score of recognition of affect and that of mime of sadness in context.; Les patients avec des Troubles du Spectre Autistique présentent des déficits de la communication et des interactions sociales. L’émotion est régie par un réseau de circuits cérébraux nécessaire pour nous permettre de percevoir et de ressentir des émotions. Or ces zones cérébrales semblent peu stimulées chez les personnes présentant un TSA. Ces dernières présentent de grandes difficultés à percevoir et produire les émotions, quelles que soit les modalités (visuelle, gestuelle, vocale). C’est pourquoi depuis plusieurs années et grâce aux progrès numériques de plus en plus de jeux sérieux visant les personnes avec TSA ont vu le jour. Il nous a alors paru intéressant de creuser le lien entre les capacités de reconnaissance des émotions et celles de production chez cette population, en considérant séparément les compétences de bas niveau et celles de haut niveau. Nous avons émis l’hypothèse que les capacités de production émotionnelle étaient potentiellement liées aux capacités de reconnaissance de ces mêmes émotions. Nous avons alors fait une étude rétrospective, en corrélant les scores des participants lors du bilan neuropsychologique initial et les réussites obtenues lors de l’utilisation de JEMImE. Nos résultats ont montré que les capacités de reconnaissance émotionnelle n’ont aucun impact sur les capacités de reproduction d’émotion en imitation. Cependant, nous avons obtenu une corrélation positive entre le score de reconnaissance et celui de production en situation de mime, et ce, à la fois pour les tâches sans contexte que pour les tâches contextuelles. Il existe également une corrélation positive entre le score de reconnaissance d’affects et celui de mime de la tristesse en contexte.

Serious mental disorders in children and adolescents ; such as schizophrenia, bipolarity or depression are chronic disabling conditions that represent a significant public health issue. Despite adequate drug treatment, some patients have pharmacoresistance and therefore often polytherapy, exposing them to side effects, and longer drug taking.Psychotropic drugs are predominantly metabolized in the liver by CYP2D6 subunit of cytochrome P450. A functional abnormality of this subunit results in a disorder of the metabolization of these treatments (inefficiency or side effects). We set up a multicenter biomedical study "M4P" whose objective is to study the prevalence of CYP2D6 duplications or polymorphisms associated with an Ultra Fast Metabolic (UFM) phenotype in drug-resistant children and adolescents with psychotropic drugs. The presence of UFM phenotype concerns one patient (4.5%) in our study.This prevalence is therefore lower than we observed in a preliminary study (33%) and that in the general population in southern Europe (10%). Therefore, these results do not allow us to conclude on the presence of a link between drug resistance to psychotropic drugs and abnormality type duplication of CYP2D6. The analysis of the results on secondary objectives allows us to characterize the population of drug-resistant patients whose severity and impact of their pathology are major, long-term care, multiple prescriptions and numerous side effects.The clinical presentation of a teenager nevertheless illustrates the individual benefit after therapeutic rehabilitation in the event of a pharmacogenetic anomaly. Without losing sight of the fact that the pharmacological approach is obviously not enough, this work questions the contribution of personalized medicine in child psychiatry and paves the way for other research projects to better understand the drug resistance of our patients, question how we respond to it and possibly prevent it.; Les troubles mentaux graves chez l’enfant et l’adolescent ; tels que la schizophrénie, la bipolarité ou la dépression sont des maladies invalidantes chroniques représentant un enjeu important de santé publique. Malgré un traitement médicamenteux adéquat, certains patients présentent une pharmacorésistance et en conséquence souvent une polythérapie, les exposant à des effets secondaires, et des prises en charges plus longues.Les psychotropes sont majoritairement métabolisés au niveau hépatique par la sous-unité CYP2D6 du cytochrome P450. Une anomalie fonctionnelle de cette sous-unité a comme conséquence un trouble de la métabolisation de ces traitements (inefficacité ou effets secondaires). Nous avons mis en place une étude biomédicale multicentrique « M4P » dont l’objectif est d’étudier la prévalence de duplications ou de polymorphismes du CYP2D6 associés à un phénotype Métaboliseur UltraRapide (MUR) chez l’enfant et l’adolescent pharmacorésistants aux psychotropes. La présence de phénotype MUR concerne un patient (4,5%) dans notre étude.Cette prévalence est donc inférieure à celle qui a été observée lors d’une étude préliminaire (33%) et celle en population générale au sud de l’Europe (10%). En conséquence, ces résultats ne nous permettent donc pas de conclure sur la présence d’un lien entre pharmacorésistance aux psychotropes et anomalie type duplication du CYP2D6. L’analyse des résultats sur les objectifs secondaires nous permet de caractériser la population de patients pharmacorésistants dont la sévérité et le retentissement de leur pathologie sont majeurs, les prises en charges longues, les prescriptions multiples et les effets secondaires nombreux.La présentation clinique d’un adolescent, illustre néanmoins le bénéfice individuel après réadaptation thérapeutique en cas d’anomalie pharmacogénétique. Sans perdre de vue que l’abord pharmacologique ne suffit évidemment pas, ce travail questionne sur l’apport d’une médecine personnalisée en pédopsychiatrie et ouvre la voie à d’autres projets de recherche afin de mieux comprendre la pharmacorésistance de nos patients, de questionner notre manière d’y répondre et éventuellement de la prévenir.