Objective: We aimed to describe epilepsy and EEG patterns related to vigilance states and age, in chromosome15-long-arm-duplication-syndrome (dup15q) children with epilepsy, in both duplication types: interstitial (intdup15) and isodicentric (idic15). Methods: Clinical data and 70 EEGs of 12 patients (5 intdup15, 7 idic15), followed from 4.5 m.o to 17y4m (median follow-up 8y3m), were retrospectively reviewed. EEGs were analyzed visually and using power spectrum analysis. Results: Seventy video-EEGs were analyzed (1-16 per patient, median 6), follow-up lasting up to 8y10m (median 4y2m): 25 EEGs in intdup15 (8 m.o to 12y.o, median 4y6m) and 45 EEGs in idic15 (7 m.o to 12 y. o, median 15 m). Epilepsy: 6 West syndrome (WS) (2intdup15, 4idic15); 4 Lennox-Gastaut syndromes (LGS) (1 intdup15, 3 idic15), 2 evolving from WS; focal epilepsy (3 intdup15). In idic15, WS displayed additional myoclonic seizures (3), atypical (4) or no hypsarrhythmia (2) and posterior predominant spike and polyspike bursts (4). Beta-band rapid-rhythms (RR): present in 11 patients, power decreased during non-REM-sleep, localization shifted from diffuse to anterior, peak frequency increased with age. Conclusion: WS with peculiar electro-clinical features and LGS, along with beta-band RR decreasing in non-REM-sleep and shifting from diffuse to anterior localization with age are recognizable features pointing towards dup15q diagnosis in children with autism spectrum disorder and developmental delay. Significance: This study describes electroclinical features in both interstitial and isodicentric duplications of chromosome 15q, in epileptic children, including some recent extensions regarding sleep features; and illustrates how the temporo-spatial organization of beta oscillations can be of significant help in directing towards dup15q diagnosis hypothesis. (c) 2021 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

Long-term video-EEG corresponds to a recording ranging from 1 to 24 h or even longer. It is indicated in the following situations: diagnosis of epileptic syndromes or unclassified epilepsy, pre-surgical evaluation for drug-resistant epilepsy, follow-up of epilepsy or in cases of paroxysmal symptoms whose etiology remains uncertain. There are some specificities related to paediatric care: a dedicated pediatric unit; continuous monitoring covering at least a full 24-hour period, especially in the context of pre-surgical evaluation; the requirement of presence by the parents, technician or nurse; and stronger attachment of electrodes (cup electrodes), the number of which is adapted to the age of the child. The chosen duration of the monitoring also depends on the frequency of seizures or paroxysmal events. The polygraphy must be adapted to the type and topography of movements. It is essential to have at least an electrocardiography (ECG) channel, respiratory sensor and electromyography (EMG) on both deltoids. There is no age limit for performing long-term video-EEG even in newborns and infants; nevertheless because of scalp fragility, strict surveillance of the baby's skin condition is required. In the specific context of pre-surgical evaluation, long-term video-EEG must record all types of seizures observed in the child. This monitoring is essential in order to develop hypotheses regarding the seizure onset zone, based on electroclinical correlations, which should be adapted to the child's age and the psychomotor development.

Electroencephalography allows the functional analysis of electrical brain cortical activity and is the gold standard for analyzing electrophysiological processes involved in epilepsy but also in several other dysfunctions of the central nervous system. Morphological imaging yields complementary data, yet it cannot replace the essential functional analysis tool that is EEG. Furthermore, EEG has the great advantage of being non-invasive, easy to perform and allows control tests when follow-up is necessary, even at the patient's bedside. Faced with the advances in knowledge, techniques and indications, the Société de Neurophysiologie Clinique de Langue Française (SNCLF) and the Ligue Française Contre l'Épilepsie (LFCE) found it necessary to provide an update on EEG recommendations. This article will review the methodology applied to this work, refine the various topics detailed in the following chapters. It will go over the summary of recommendations for each of these chapters and underline proposals for writing an EEG report. Some questions could not be answered by the review of the literature; in those cases, an expert advice was given by the working and reading groups in addition to the guidelines.

Epilepsy surgery in children is a functional surgery: its goal is to perform the resection of the epileptic brain tissue while sparing the eloquent cortex. Prolonged scalp video-EEGs allow recording of all types of seizures and play a crucial role in localizing the epileptogenic zone. Furthermore, EEG data correlation with clinical and radiological findings provides a guide for the surgical strategy: either resection without further investigations or an invasive recording procedure. In prehemispherotomy evaluation, EEG recordings confirm that limited resections are not indicated and demonstrate that the opposite hemisphere is not involved. If invasive recordings are needed, they consist in foramen ovale electrode insertion, which provides valuable information in mesial temporal lobe epilepsy, stereoelectroencephalography for children older than two years, and subdural grids associated with depth electrodes in infants or when the eloquent areas need to be carefully investigated. Such investigations allow tailoring surgery to each child.

The important EEG changes that occur throughout childhood are a major challenge for the neurophysiologist. These reflect brain maturation, which is especially fast during the first year of life. This article describes normal EEG features and variants, characteristic patterns of development, as well as some patterns that are unusual for age, from the neonatal period to adolescence. We also describe how to adapt techniques and prepare patients in order to get interpretable records of appropriate duration, in neonates, infants, and young children.

Les troubles spécifiques du langage (TSLO) sont fréquemment associés à des anomalies paroxystiques infracliniques observées sur l’électroencéphalogramme. L’objectif de ce travail d’analyse rétrospective des dossiers de 35 enfants atteints d’un trouble spécifique du langage est de déterminer quelle proportion présente des anomalies paroxystiques électroencéphalographiques (EEG), de les décrire et d’étudier leur association à certaines caractéristiques anamnestiques, cliniques, paracliniques et évolutives. Dans cette population d’enfants âgés de quatre à sept ans, comportant 49 % de patients atteints de TSLO de type expressif et 51 % de type réceptif, 49 % des enfants présentent des anomalies EEG. Très fréquentes, elles sont essentiellement localisées à gauche et dans deux régions : temporo-occipitale (60 %) et frontorolandique (30 %). On observe une atteinte de la dimension phonologique du langage significativement plus importante, un nombre significativement plus important de retards d’acquisition de la marche et de la propreté et une fréquence accrue (quoique non significative statistiquement) d’anomalies psychomotrices. La fréquence de telles anomalies suggère qu’elles puissent refléter des particularités physiopathologiques associées aux TSLO. On peut ainsi envisager pour les TSLO un modèle théorique neurodéveloppemental, comme pour les troubles envahissants du développement et la schizophrénie.

Although LVT is currently extensively prescribed in childhood epilepsy, its effect on the panel of refractory epilepsy syndromes has not been entirely evaluated prospectively. In order to study the efficacy and safety of LVT as adjunctive therapy according to syndromes, we included 102 patients with refractory seizures (6 months to 15 years) in a prospective open-labeled trial. The responder rate was respectively 36% and 32% at 3 and 6 months with 6% and 7% patients becoming seizure free. Among the responders at 6 months (n=33), seizure frequency decreased by 66% and 79% at 3 and 6 months LVT compared to baseline. The highest benefit was for CSWS patients with 2/3 responders, 50% seizure free and no aggravation. LVT provided respectively 39% and 42% responders in focal and absence epilepsies. Infantile spasms and Dravet syndrome experienced the lowest efficacy. No patient with myoclonic-astatic epilepsy or Lennox-Gastaut syndrome was aggravated. LVT dose over 40 mg/kg/d was associated with a lower response rate. Tolerability was excellent. In spite of a small sample, we assume that CSWS is a good candidate for a randomized-controlled trial with LVT.

L'approche thérapeutique avec la médiation équine est une pratique novatrice dans le domaine du trouble de stress post-traumatique chez l'enfant. Elle s'appuie sur des études scientifiques récentes et se situe en complémentarité des thérapies classiques.Une étude de cas est analysée à partir de l'expérience de la médiation équine pour des enfants présentant un trouble de stress post-traumatique de diverses origines.Dix séances de thérapie avec la médiation du cheval ont été proposées à un groupe de 3 enfants, âgés de 6 à 11 ans. L'évaluation des résultats est qualitative et complétée par un questionnaire CPTS-RI (index de réaction au stress post-traumatique de l'enfant).Les symptômes observés, les objectifs thérapeutiques, les moyens mis en œuvre et leurs modalités sont décrits. Les résultats montrent une bonne adhésion aux soins et des progrès dans tous les secteurs ciblés. La médiation équine facilite la participation de l'enfant, améliore le fonctionnement socio-émotionnel et cognitif, aide à réguler le comportement et les émotions, restaure la confiance et l'estime de soi.Comprendre comment agit la médiation équine dans le trouble de stress post-traumatique infantojuvénile permet d'en expliquer les bénéfices observés. L'analyse des facteurs en jeu doit être abordée sous des angles complémentaires : psychoaffectifs, cognitifs, sociaux, neurobiologiques, thérapeutiques. L'étude sera poursuivie avec des évaluations quantitatives sur un plus grand effectif afin de valider ces premiers résultats.Equine-Assisted Therapy is a new approach for post-traumatic stress disorder in children, which comes in complementarity with usual therapies and is based on recent scientific studies. Horses and poneys participate more and more often in therapies for people in mental or physical difficulties. The aim is to introduce a horse as an intermediary which intervenes as a mediator for therapy. This care assisted by a horse must be included into the child's global therapeutic program. The horse facilitates development of therapeutic alliance and therapy with the triad child-therapist-horse improves interpersonal adaptation skills, positive attachment and resilience. Some recent studies have shown the interest and benefits for children with post-traumatic stress disorder.A case pilot study is analyzed, starting from an experiment of equine assisted therapy for children with post-traumatic stress disorder symptoms following different psychotraumas (terrorist attack, mistreatment, injury, aggression).Ten equine-assisted therapy group sessions have been proposed to three children, aged from 6 to 11 years, addressed by Nice Pediatric Evaluation Psychotraumatism Center, which realizes the follow-up and other therapies. Equine assisted sessions have been carried out by the equine therapist, in presence of the psychomotor therapist, while the psychologist met with the parents. A CPTS-RI questionnaire (index of psychotraumatic stress reaction) was submitted by the psychomotor therapist to each of the three children before the first session of equine assisted therapy and after ten sessions.According to symptoms observed, therapeutic goals, means used and modalities are defined and described. Global results show good joining and participation, and positive evolution. For the three children, equine-assisted therapy has been facilitating for adherence to care, it improved socio-emotional and cognitive functioning, helped regulation in behaviour and emotions, restored confidence and self-esteem, provided wellness.To understand action of equine assisted therapy for children with posttraumatic stress disorder so as to be able to explain benefits and effectiveness of this complementary therapy. Factors involved are analyzed depending on several approaches: psycho-affective, cognitive, social, neurobiological and therapeutic. This preliminary study must be continued with a larger sample so as to obtain data for evidence based practice and validate equine assisted therapy results in child post-traumatic stress disorder.

L’objectif de ce travail était d’identifier les bases moléculaires du syndrome de Pitt-Hopkins (SPH), décrit pour la première fois en 1978 par D. Pitt et I. Hopkins. Nous nous sommes intéressés à ce syndrome du fait des anomalies du rythme respiratoire décrites chez ces patients. Nous avons opté pou ru ne recherche systématique de délétion par hybridation génomique comparative sur une puce à ADN. Quatre patients suspects de SPH ont été ainsi étudiés et l’un d’entre eux portait une délétion hétérozygote de novo sur le chromosome 18q21.1. Nous avons étudié la séquence codante du gène TCF4, candidat par sa localisation en 18q21.1, sur une série de 30 patients suspects de SPH et identifié une mutation du gène pour 8 patients. TCF4 est un facteur de transcription ubiquitaire connu initialement pour son rôle dans la lymphogénèse. Nous avons étudié le phénotype des patients mutés pour TCF4 dans le but de poursuivre la description du spectre des manifestations cliniques de ce syndrome. Le retard mental est constant et sévère de même qu’une microcéphalie post-natale. Seuls 6 patients parmi les 15 mutés pour TCF4 ont uneépilepsie qui semble polymorphe. Les épisodes d’hyperventilation caractéristiques ayant permis d’individualiser le SPH sont en fait inconstants (8/15). L’âge d’apparition des épisodes d’hyperventilation est toujours retardé et variable et apparaît à un âge compris entre 2 et 8 ans. Les épisodes d’hyperventilation sont alors pluriquotidiens, majorés par les émotions et surviennent exclusivement en période de veille. Un patient a développé un lymphomeà l’âge adulte. Nous avons validé l’effet fonctionnel des mutations identifiées sur un modèle cellulaire et montré que ces mutations avaient un effet sur le gène ASCL1, un gène impliqué dans le développement du système nerveux autonome et en particulier le contrôle central de la ventilation. Ce travail a permis d’identifier les bases moléculaires du syndrome de Pitt-Hopkins. Il s’agit d’un modèle d’étude aussi bien pour la compréhension du contrôle génétique de la ventilation que comme un nouvel exemple d’une anomalie de développement prédisposant aux tumeurs.

Purpose: Few reports detailing late-onset epileptic spasms have been published. To determine whether this condition merely represents a late variant of classic West syndrome or exhibits specific features distinct from the latter and related to a later stage of brain maturation, we analyzed the whole population with this specific seizure type, excluding symptomatic cases to avoid the effect of brain lesion.Methods: We reviewed the files of the 56 children evaluated for epileptic spasms in clusters having begun at age 12 months or later and analyzed clinical and video-EEG data of the 22 patients (4-17 years; mean, 8.5 years) without obvious cause.Results: Interictal EEG did not show classic hypsarrhythmia. A temporal or temporofrontal slow wave and/or spike focus could be identified in all cases. Twelve children showed spasms with a tonic component. Ictal EEG revealed generalized high-voltage slow wave followed by diffuse voltage attenuation with superimposed fast activity. All children also exhibited other types of recorded seizures consisting of bursts of spike-waves with temporofrontal predominance, reminiscent of "atypical absences." In contrast with the occurrence of tonic components within a cluster of spasms, no tonic seizure stricto sensu was recorded or reported by the caregivers. In 10 children, treatment (two vigabatrin, seven hydrocortisone, one adrenocorticotropic hormone) achieved complete cessation of seizures and disappearance of focal EEG anomalies, but spasms persisted in 12 children.Conclusions: The cryptogenic group in our series without recognized cause and temporal or temporofrontal EEG anomalies seems to represent a type of epileptic encephalopathy intermediary between West and Lennox-Gastaut syndromes, in terms of seizure types and interictal EEG, and could correspond to dysfunction of the maturation process of the temporal lobe, possibly due to an undisclosed lesion.