Transition from pediatric to adult care system in patients with complex epilepsies: Necker model for transition evaluated on 70 consecutive patients.

Objective: Complex epilepsies such as epileptic and developmental encephalopathies require multidisciplinary care throughout life. A coordinated transition program is therefore essential to provide optimal support for patients leaving pediatric for adult care. The aim of this study is to describe and evaluate our transition program for complex epilepsies, focusing on the last step in this program, that is, the multidisciplinary transition day hospital (MTDH).

Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy.

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, lysosomal storage disorder that causes pediatric onset neurodegenerative disease. It is characterized by mutations in the TPP1 gene. Symptoms begin between 2 and 4 years of age with loss of previously acquired motor, cognitive, and language abilities.

Neuropsychological assessment in pediatric epilepsy surgery: A French procedure consensus.

Neuropsychological assessment is a mandatory part of the pre- and post-operative evaluation in pediatric epilepsy surgery. The neuropsychology task force of the ILAE - French Chapter aims to define a neuropsychological procedure consensus based on literature review and adapted for French practice. They performed a systematic review of the literature published between 1950 and 2023 on cognitive evaluation of individuals undergoing presurgical work-up and post-surgery follow-up and focused on the pediatric population aged 6-16.

The longitudinal evolution of cerebral blood flow in children with tuberous sclerosis assessed by arterial spin labeling magnetic resonance imaging may be related to cognitive performance.

Objective: To study longitudinal changes in tuber and whole-brain perfusion in children with tuberous sclerosis complex (TSC) using arterial spin labeling (ASL) perfusion MRI and correlate them with pathological EEG slow wave activity and neurodevelopmental outcomes.

Methods: Retrospective longitudinal cohort study of 13 children with TSC, 3 to 6 serial ASL-MRI scans between 2 months and 7 years of age (53 scans in total), and an EEG examination performed within 2 months of the last MRI. Tuber cerebral blood flow (CBF) values were calculated in tuber segmentation masks, and tuber:cortical CBF ratios were used to study tuber perfusion.

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.

Aim: KCNB1 encephalopathy encompasses a broad phenotypic spectrum associating intellectual disability, behavioral disturbances, and epilepsies of various severity. Using standardized parental questionnaires, we aimed to capture the heterogeneity of the adaptive and behavioral features in a series of patients with KCNB1 pathogenic variants.

Methods: We included 25 patients with a KCNB1 encephalopathy, aged from 3.

Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex.

Objective: To correlate fetal brain magnetic resonance imaging (MRI) findings with epilepsy characteristics and neurodevelopment at 2 years of age in children with tuberous sclerosis complex (TSC) to improve prenatal counseling.

Study Design: This retrospective cohort study was performed in a collaboration between centers of the EPISTOP consortium. We included children with definite TSC, fetal MRIs, and available follow-up data at 2 years of age.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Objective: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy.

Methods: We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited through an international collaboration, with the support of the family association "KCNB1 France." Patients were classified as having developmental and epileptic encephalopathy (DEE) or developmental encephalopathy (DE).

Transition of patients with childhood onset epilepsy: Perspectives from pediatric and adult neurologists.

Transition from pediatric to adult care systems is a major challenge in the management of adolescents with epilepsy. The comparison of pediatric and adult physicians' points of view on this issue is scarcely described. The aim of this study was to understand pediatric and adult neurologists' experience and opinions on transition in epilepsy in France.

Usefulness of preschool and school versions of the Behavioral Rating Inventory of Executive Functions in the evaluation of the daily life executive function in myoclonic-atonic epilepsy.

Purpose: Executive functions (EF) are high-order cognitive skills that have a major influence on quality of life, social skills, and school achievement. We aimed to screen EF daily life abilities in young patients with myoclonic-atonic epilepsy (MAE) using an ecological questionnaire and to correlate EF to epilepsy characteristics.

Methods: Behavioral Rating Inventory of Executive Functions - Preschool (BRIEF-P) and BRIEF - for school-aged patients - parental questionnaires were proposed to patients with MAE and typically developing children (TDC) including Inhibit, Shift, Emotional control, Working memory (WM), Plan/Organize, Initiate, Organization of materials, and Monitor subscales.

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.

Objective: We aimed to assess a cohort of young patients with Dravet syndrome (DS) for intellectual disability (ID) and autism spectrum disorder (ASD) using standardized tools and parental questionnaires to delineate their specific profiles.

Methods: We included 35 patients with DS aged 24 months to 7 years, excluding patients with a developmental age (DA) <18 months (n = 5). We performed specific tests adapted for ID (Psychoeducational Profile, Third Edition [PEP-3]), in addition to the Child Development Inventory (CDI) and Vineland Adaptive Behavior Scales, Second Edition (VABS-II) questionnaires.

Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.

Introduction: Autism features and various degrees of cognitive deficit are reported in patients with PCDH-19 mutations and epilepsy. Autism spectrum disorder (ASD) and, often, cognitive profile are usually assessed clinically. We studied autism phenotype and cognitive outcome in a series of patients using standardized tools for development and ASD.