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Background and Aims: Pathogenic variants in the NARS1 gene, which encodes for the asparaginyl-tRNA synthetase1 (NARS1) enzyme, were associated with complex central and peripheral nervous system phenotypes. Recently, Charcot-Marie-Tooth (CMT) disease has been linked to heterozygous pathogenic variants in NARS1 in nine patients. Here, we report two brothers and their mother from a French family with distal hereditary motor neuropathy (dHMN) carrying a previously unreported NARS1 variant., Methods: The NARS1 variant (c.1555G>C; p.(Gly519Arg)) was identified through whole-genome sequencing (WGS) performed on the family members. Clinical findings, nerve conduction studies (NCS), needle electromyography (EMG), and functional assays in yeast complementation assays are reported here., Results: The family members showed symptoms of dHMN, including distal weakness and osteoarticular deformities. They also exhibited brisk reflexes suggestive of upper motor neuron involvement. All patients were able to walk independently at the last follow-up. NCS and EMG confirmed pure motor neuropathy. Functional assays in yeast confirmed a loss-of-function effect of the variant on NARS1 activity., Interpretation: Our findings expand the clinical spectrum of NARS1-associated neuropathies, highlighting the association of NARS1 mutations with dHMN. The benign disease course observed in our patients suggests a slowly progressive phenotype. Further reports could contribute to a more comprehensive understanding of the spectrum of NARS1-associated neuropathies., (© 2024 The Author(s). Journal of the Peripheral Nervous System published by Wiley Periodicals LLC on behalf of Peripheral Nerve Society.)

Background: Counseling on pregnancy is still challenging, particularly regarding the use of disease-modifying treatments (DMTs). We are lacking long-term outcomes in children exposed to DMTs., Objectives: This study aimed to set up a French pregnancy registry for women with multiple sclerosis (MS) and related disorders nested within the Observatoire Français de la Sclérose en Plaques (OFSEP) cohort., Methods: Prospective, observational, multicentric, epidemiological study in France. Neurological visits are organized according to routine practice. Data are collected on the OFSEP minimal datasheet. Auto-questionnaires on pregnancy are completed by patients at Months 5-6 and 8 during pregnancy, and Months 3, 6, and 12 postpartum. A specific survey on analgesia is completed by anesthesiologists. Pediatric data are collected from the child's health book, where visits on Day 8, Month 9, and 24 are mandatory. Parents complete neurodevelopmental questionnaires at Year 1, Years 2 and 6., Results: The RESPONSE study started in August 2019. On 7 April 2023, 515 women were included. Baseline demographics are presented., Conclusions: RESPONSE will provide rich information on the global management of pregnancy in France and prospective data on children until the age of 6 years, exposed or not to a DMT, including data on neurodevelopment that can be compared to the general population., Study Funding: EDMUS and ARSEP Foundation, Biogen, Roche., Competing Interests: Declaration of conflicting interestsThe author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: S.V. has received consulting and lecturing fees, travel grants, and unconditional research support from Biogen, Janssen, Merck, Novartis, Roche, Sandoz, and Sanofi. B.B. has received consulting and lecturing fees, travel grants, and unconditional research support from Alexion, Biogen, Horizon, Janssen, Merck, Novartis, Roche, Sandoz, and Sanofi. R.C. has no financial disclosure to declare. K.D. has received consulting and lecturing fees, travel grants, and consulting fees for advisory boards from Alexion, Biogen, Horizon, Novartis, Roche, and Sanofi. A.M.G. has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Biogen, Novartis, Merck, Sanofi, and Roche. F.R. and C.L.F. have no financial disclosure to declare. E.L. has received consulting and lecturing fees, and travel grants from Alexion, Merck, Novartis, Roche, and Sanofi. L.B. and C.G. have no financial disclosure to declare. R.M. has received personal fees from Horizon Therapeutics, Alexion, Roche, and UCB and non-financial support from Horizon Therapeutics, Merck, Biogen, and Roche, outside the submitted work. E.M. reports research support from Biogen and ARSEP foundation and personal fees for lectures and advisory boards from Biogen, Janssen, Merck, Novartis, Roche, Sanofi, and Teva.

While the needs for pediatric care are increasing and becoming more diverse, pediatric private practice in France is encountering difficulties linked to a growing medical demographic deficit. The objective of this study was to give an overview of pediatric private practice in the Nord-Pas-de-Calais region and to describe the main challenges encountered., Methods: For this descriptive observational survey, private practice pediatricians in the Nord-Pas-de-Calais region filled out an online questionnaire between April 2019 and October 2020., Results: The response rate was 64%. Most respondents practiced in an urban area (87%) and shared the practice with other physicians (59%). A majority (85%) had previously worked in hospital; 65% reported training in a subspecialty. Overall, 48% had other professional activities; 28% worked night shifts and 96% accepted urgent requests for consultations. A total of 33% reported having difficulties contacting specialists for consults, and 46% had difficulties in obtaining written reports of their patients' hospitalizations. All respondents participated in a form of ongoing medical education. The main difficulties were: lack of information about how to found a private practice (68%), lack of personal time (61%), balance between medical and administrative work (59%), and an excess of patients to care for (57%). The main satisfactions were: trusting relationships with patients (98%), freedom in their choice of practice (85%), and the diversity of problems and situations encountered (68%)., Conclusion: Our study underlines that private practice pediatricians are involved in healthcare provision, in particular regarding ongoing medical training, subspecialties, and continuity of care. It also highlights the problems encountered and the possible improvements: developing better communication between private practice and hospitals, reinforcing training during residency, and highlighting the importance and complementarity of private practice in children's healthcare., Competing Interests: Declaration of Competing Interest None., (Copyright © 2023 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.)

Introduction: Hereditary transthyretin related amyloidosis (h-ATTR) classically presents as a small fiber neuropathy with positive family history, but can also be revealed by various other types of peripheral neuropathy., Objective: To describe the initial electro-clinical presentation of patients from in a single region (northern France) of h-ATTR when it presents as a polyneuropathy of unknown origin., Method: We reviewed the records of patients referred to two neuromuscular centers from northern France with a peripheral neuropathy of unknown origin who were subsequently diagnosed with h-ATTR., Results: Among 26 h-ATTR patients (10 Val30Met, 16 Ser77Tyr), only 14 patients had a suspicious family history (53.8%). The electro-clinical presentation was mostly a large-fiber sensory motor polyneuropathy (92.3%), which could be symmetric or not, length-dependent or not, or associated with nerve entrapment or not. Demyelinating signs were observed in 17 patients (70.8%), among whom nine fulfilled the criteria for a definite diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (37.5%)., Conclusion: h-ATTR may have a wide spectrum of clinical profiles, and should be considered in the screening of polyneuropathies of unknown origin., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Aim: The aim was to describe and to analyze the ethics of decision-making in situations involving children with intellectual disability and cancer, from the referent-doctor's point-of-view, in pediatric oncology units in France., Methods: Pediatricians working in pediatric oncology units were interviewed through an online questionnaire and a semi-directive interview was systematically proposed. We analyzed the ethical issues that arose during the process of decision-making and we made suggestions in order to address them., Results: Sixteen doctors reported twenty-one clinical cases. Of these cases, one third of the children had a change in their oncologic treatment, with a risk of pejorative outcome on the prognosis. Despite the fact that ethical issues appeared in 80 % of the cases, there were few consultations with ethical committees. Decision-making process showed no difference compared to children without intellectual disability, thus raising ethical issues in the medical team. Our study showed discrepancy between frequently reported ethical issues, high consensus rate regarding treatment decision and lack of consultation with ethical committees., Discussion: We propose three steps to guide the decision-making process in situations involving children with intellectual disability and cancer: 1/deeper understanding of the child through reinforced interactions with their caregivers, 2/better cross-boundary discussions, to improve the effectiveness of the multidisciplinary staff, and 3/more systematic ethical committees consultation., (Copyright © 2021 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.)

Hereditary spastic paraplegias (HSP) are heterogeneous disorders, with more than 70 causative genes. Variants in SPAST are the most frequent genetic etiology and are responsible for spastic paraplegia type 4 (SPG4). Age at onset can vary, even between patients from the same family, and incomplete penetrance is described. Somatic mosaicism is extremely rare with only three patients reported in the literature. We report here SPAST mosaic variants in four unrelated patients. We confirm that mosaicism in SPAST is a very rare event with only four identified cases on more than 300 patients with a SPAST variant previously described by our clinical diagnostic laboratory., (© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.)

Introduction and Objective: Information on the spectrum and frequencies of pediatric neurological presentations to emergency departments is vital to optimize quality of care. The objective of this study was to determine the incidence of pediatric neurological emergencies and to analyze the impact of specialist neurological advice in emergency care., Patients and Methods: We performed a retrospective descriptive study of pediatric emergency room visits for neurological reasons at the Timone University Hospital in Marseille over a 6-month period (from October 2017 to March 2018)., Results: Of the 14,572 emergencies analyzed, 370 (2.5%) were for neurological conditions. These were most commonly seizures (56.7% of cases), headache (19.7%), and motor or sensory deficits (5.1%). The most frequent diagnosis was epileptic seizure (30%), followed by febrile seizure (26.1%) and migraine (15%). Around two in every five patients (37.6%) required hospitalization. Neurological emergencies requiring critical care occurred at a frequency of about one per month (1.6% of cases). A pediatric neurologist was consulted in 37.3% of cases, resulting in a modification of the diagnosis or treatment in 66% of these referrals., Conclusion: The results of this study suggest that a formal referral system between the emergency department and pediatric neurologists would be useful., (Copyright © 2020. Published by Elsevier Masson SAS.)

Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017. The aim of this article is to report results after 1 year of treatment with intrathecal nusinersen in children with SMA types 1 and 2 in France. Comparisons between treatment onset (T0) and after 1 year of treatment (Y1) were made in terms of motor function and need for nutritional and ventilatory support. Motor development milestone achievements were evaluated using the modified Hammersmith Infant Neurologic Examination-Part 2 (HINE-2) for patients under 2 years of age and Motor Function Measure (MFM) scores for patients over 2 years of age., Results: Data on 204 SMA patients (type 1 or 2) were retrospectively collected from the 23 French centers for neuromuscular diseases. One hundred and twenty three patients had been treated for at least 1 year and were included, 34 of whom were classified as type 1 (10 as type 1a/b and 24 as type 1c) and 89 as type 2. Survival motor Neuron 2 (SMN2) copy numbers were available for all but 6 patients. Patients under 2 years of age (n = 30), had significantly higher HINE-2 scores at year 1 than at treatment onset but used more nutritional and ventilatory support. The 68 patients over 2 years of age evaluated with the Motor Function Measure test had significantly higher overall scores after 1 year, indicating that their motor function had improved. The scores were higher in the axial and proximal motor function (D2) and distal motor function (D3) parts of the MFM scale, but there was no significant difference for standing and transfer scores (D1). No child in either of the two groups achieved walking., Conclusion: Nusinersen offers life-changing benefits for children with SMA, particularly those with more severe forms of the disorder. Caregiver assessments are positive. Nevertheless, patients remain severely disabled and still require intensive support care. This new treatment raises new ethical challenges.

Objectives: The objective of this study was to evaluate the Neurological Disorders Depression Inventory-Epilepsy (NDDI-E) for Youth (NDDI-E-Y) for screening for major depressive disorder (MDD) in French youth with epilepsy (YWE), in order to (1) validate this tool in a separate population; (2) determine whether the 12-item NDDI-E-Y affords advantages over the 6-item adult NDDI-E; (3) measure psychometric performance of each item., Methods: Youth with epilepsy aged 11-17 years completed a 15-item questionnaire to calculate total scores for NDDI-E-Y (12 items) and NDDI-E (6 items). Gold standard for MDD was Children's Depression Inventory (CDI). Receiver operator characteristic (ROC) analyses for total NDDI-E-Y and NDDI-E scores were compared. Psychometric properties of each item were analyzed for: floor/ceiling effect, item-internal consistency, and ROC curve., Results: Ninety-seven YWE were included; 21.6% had MDD (CDI > 15). Correlation was very high between total NDDI-E-Y and NDDI-E scores, and high between NDDI-E-Y and CDI. Cutoff point for the NDDI-E-Y maximizing both sensitivity and specificity was 23 (original study cutoff 32). The ROC analysis of the NDDI-E-Y showed an area under the curve (AUC) 0.967 (95% confidence intervals [CI] 0.909-0.992); (p < 0.0001). Sensitivity, specificity, and positive (PPV) and negative predictive values (NPV) were 100% [83.9; 100], 82.9% [72.5; 90.6], 61.8 [43.6; 77.8], and 100% [94.3; 100], respectively. The NDDI-E-Y was not superior to NDDI-E according to pairwise comparison of ROC (p = 0.07). Psychometric analysis revealed marked differences between items. After eliminating items with poorer performance, a 6-item version of the NDDI-E-Y showed sensitivity, specificity, PPV, and NPV of 100% [85.5; 100], 85.5% [75.6; 92.5], 65.6 [46.8; 81.4], and 100% [94.5; 100], respectively. This was significantly better than the adult NDDI-E (p = 0.03) though not NDDI-E-Y (p = 0.07)., Significance: Significant difference in cutoff indicates that the NDDI-E-Y cannot yet be recommended for widespread screening of MDD in YWE. Discrepancies in psychometric performance between items suggest that further work is needed to examine both validation of the original 12-item NDDI-E-Y and comparison with a shorter version., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Background: No guidelines exist concerning the maintenance antiepileptic drug to use after neonatal seizures. Practices vary from one hospital to another. The aim of this study was to investigate etiologies and to report on the use of maintenance antiepileptic therapy in our population of full-term neonates presenting neonatal seizures., Methods: From January 2004 to October 2014, we retrospectively collected data from all full-term neonates with neonatal seizures admitted to the Children's Hospital of Toulouse, France., Results: Two hundred and forty-three neonates were included (59% males, 48% electroencephalographic confirmation). The frequencies of etiologies of neonatal seizures were: hypoxic-ischemic encephalopathy (HIE) (n = 91; 37%), ischemic infarction (n = 36; 15%), intracranial hemorrhage (n = 29; 12%), intracranial infection (n = 19; 8%), metabolic or electrolyte disorders (n = 9; 3%), inborn errors of metabolism (n = 5; 2%), congenital malformations of the central nervous system (n = 11; 5%), epileptic syndromes (n = 27; 12%) and unknown (n = 16; 7%). A maintenance therapy was prescribed in 180 (72%) newborns: valproic acid (n = 123), carbamazepine (n = 28), levetiracetam (n = 17), vigabatrin (n = 2), and phenobarbital (n = 4). In our cohort, the choice of antiepileptic drug depended mainly on etiology. The average duration of treatment was six months., Conclusions: In our cohort, valproic acid was the most frequently prescribed maintenance antiepileptic therapy. However, the arrival on the market of new antiepileptic drugs and a better understanding of the physiopathology of genetic encephalopathies is changing our practice., Trial Registration: Retrospectively registered. Patient data were reported to the "Commission Nationale Informatique et Libertés" under the number 2106953 .

Purpose: To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify new CA genes., Methods: Singleton -exome sequencing on these 20 well-clinically characterized CA patients. We first checked for rare homozygous pathogenic variants, then, for variants from a list of genes known to be associated with CA or very early-onset ataxia, regardless of their mode of inheritance. Our replication cohort of 180 CA patients was used to validate the new CA genes., Results: We identified a causal gene in 16/20 families: six known CA genes (7 patients); four genes previously implicated in another neurological phenotype (7 patients); two new candidate genes (2 patients). Despite the consanguinity, 4/20 patients harbored a heterozygous de novo pathogenic variant., Conclusion: Singleton exome sequencing in 20 consanguineous CA families led to molecular diagnosis in 80% of cases. This study confirms the genetic heterogeneity of CA and identifies two new candidate genes (PIGS and SKOR2). Our work illustrates the diversity of the pathophysiological pathways in CA, and highlights the pathogenic link between some CA and early infantile epileptic encephalopathies related to the same genes (STXBP1, BRAT1, CACNA1A and CACNA2D2).

Objective: To genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management., Methods: Among the 2,697 patients with genetically confirmed DM1 included in the French DM-Scope registry, children were enrolled between January 2010 and February 2016 from 24 centers. Comprehensive cross-sectional analysis of most relevant qualitative and quantitative variables was performed., Results: We studied 314 children (52% females, with 55% congenital, 31% infantile, 14% juvenile form). The age at inclusion was inversely correlated with the CTG repeat length. The paternal transmission rate was higher than expected, especially in the congenital form (13%). A continuum of highly prevalent neurodevelopmental alterations was observed, including cognitive slowing (83%), attention deficit (64%), written language (64%), and spoken language (63%) disorders. Five percent exhibited autism spectrum disorders. Overall, musculoskeletal impairment was mild. Despite low prevalence, cardiorespiratory impairment could be life-threatening, and frequently occurred early in the first decade (25.9%). Gastrointestinal symptoms (27%) and cataracts (7%) were more frequent than expected, while endocrine or metabolic disorders were scarce., Conclusions: The pedDM-Scope study details the main genotype and phenotype characteristics of the 3 DM1 pediatric subgroups. It highlights striking profiles that could be useful in health care management (including transition into adulthood) and health policy planning., (© 2019 American Academy of Neurology.)

Ketogenic diets (KDs) are well-established treatments for pharmacoresistant epilepsies and some metabolic disorders. The amount of publications including evidence-based trials has continuously increased in the last 10 years. We evaluated the use of KDs in France using 2 surveys from more than ten years ago (2005 and 2008)., Methods: We conducted a new survey based on 10 questions to evaluate the evolution of the practice since 2008 and the thoughts of French pediatric neurologists on the barriers as well as possible ways to support the use of KDs., Results: All centers increased their use of KDs over time. There are now 5 out of 25 centers that are prescribing the modified Atkins diet. French pediatric neurologists reported the acceptability and the everyday life burden due to KDs as the most important barriers., Conclusion: The use of the diet in France seems to follow the increase of knowledge in this field., (Copyright © 2018 Elsevier Inc. All rights reserved.)

The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication. Most of the patients (93%) shared similar facial features, which evolved with age (midface hypoplasia, narrow and prominent nasal bridge, thick lower lip, large prominent ears), thick hair, livedo of the limbs, tapered fingers, small feet and vasomotor troubles. Early hypotonia and global DD were constant, with 21% of patients unable to walk. In patients able to stand, lower limbs weakness and spasticity led to a singular standing habitus: flexion of the knees, broad-based stance with pseudo-ataxic gait. Scoliosis was frequent (53%), such as divergent strabismus (76%) and hypermetropia (54%), stereotypic movements (89%), without obvious social withdrawal and decreased pain sensitivity (78%). Most of the patients did not develop expressive language, 35% saying few words. Epilepsy was frequent (59%), with a mean onset around 7.4 years of age, and often (62%) drug-resistant. Other medical issues were frequent: constipation (78%), and recurrent infections (89%), mainly lung. We delineate the clinical phenotype of MECP2 duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Aim: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) results from impaired glucose transport into the brain, and is treated with a ketogenic diet. A few reports have suggested effectiveness of treatment using the modified Atkins diet (MAD). We aimed to assess the efficacy of MAD as a treatment for GLUT1-DS., Method: We evaluated the efficacy of MAD in 10 patients (four males, six females; mean age at diagnosis [SD] 6.2y [1.7], min-max: 4mo-12y) with GLUT1-DS., Results: MAD was started at diagnosis in eight patients, including two infants. The mean duration (SD) under MAD was 2.5 [0.6] years (range 6mo-6y). Seven patients with epilepsy started MAD at GLUT1-DS diagnosis, and all experienced improvements in their epilepsy: five out of seven were seizure-free at M1, and three out of six at M3 and M6. The initiation of MAD allowed symptoms to be controlled in the three patients with movement disorders but without seizures. Two patients switched from the ketogenic diet to MAD. This switch was not responsible for the recurrence of any symptoms, and led to improvements in both physical abilities and growth parameters., Interpretation: MAD, which is a less restrictive and more palatable diet than the ketogenic diet, seems to have comparable effectiveness. Moreover, a switch from the ketogenic diet to MAD appears to be beneficial for patients with GLUT1-DS., (© 2016 Mac Keith Press.)

Aim: The purpose of this study was to determine the institutional trajectory and future of young children in child welfare., Materials and Methods: A catamnestic study - based on data from the child welfare office in Maine and Loire, France, from 1994 to 2001 - was conducted by a child psychiatrist and a psychologist. Medical, judicial, and educational data (development, health, pathways in child protection services) were collected and analyzed regarding the status of these children 15 years later, adding information gathered by interviewing the child welfare and foster family consultant., Results: We included 128 children admitted to the child welfare office before 4 years of age. Admission to the child welfare system suffers from care delays (a mean of 13.1 months between the first child protection referral and placement) with an average entry age of 17 months and frequent cases of child abuse (e.g., seven Silverman syndrome cases). The physical and mental health status of these children was poor (poorly monitored pregnancies, prematurity, low birth weight). More than one third of the children had growth failure at admission, with catch-up in half of the cases. The average length of stay in the child welfare system was 13.2±4.6 years. At the end of the follow-up, there were specific measures to safeguard vulnerable adults: "young adult" (24 cases), "major protection" (eight cases) and "disabled living allowance" (nine cases). One hundred and sixteen children suffered from psychiatric disorders at entry and 98 at the end. The general functioning of children as assessed by the Children's Global Assessment Scale (CGAS) showed a statistically significant improvement. One out of two young adults showed problems integrating socially with chaotic pathways: many foster placements, unsuccessful return to the family, and academic failures., Conclusion: The clinical situations of children in the child welfare office and their long-term progression confirm the importance of this public health problem. Although the measures can greatly improve their physical and psychological recovery, with evidence of thriving, this remains limited: only a few of these children are well integrated socially and academically., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Background: Mucopolysaccharidosis II (MPS II) is associated with a broad spectrum of chronic and progressive, life-limiting symptoms. Idursulfase is approved for MPS II enzyme replacement therapy (ERT) in over 50 countries. This retrospective study evaluated the MPS II burden, organization of clinical care, and effects of idursulfase treatment on the disease in France., Methods: MPS II patients who had received idursulfase ERT in the French healthcare system were enrolled. In addition to clinician and patient questionnaires, the Clinical Global Impression-Improvement (CGI-I); Patient Global Impression-Improvement (PGI-I); KIDSCREEN-27, and EuroQoL-5D for adult patients scales were used to assess quality of life (QoL) and efficacy., Results: Fifty-two patients were enrolled from 5 sites in France. The majority of patients (69.2%) presented a severe MPS II phenotype with progressive neurocognitive impairment. Major impacts on QoL were apparent, with at least 1 member of the family having to reorganize working hours (45.5%) or to stop working (22.7%). KIDSCREEN-27 and EuroQoL-5D scale scores were well below those for referent (control) populations. Most families (70.0%) experienced a diagnostic delay of at least 3 years after the initial observation of symptoms. The MPS II diagnosis was often delivered without adequate sensitivity, psychological support, or comprehensive information about the disease. The study population had received a mean of 3.8 ± 1.3 years ERT. Forty-four percent of patients with the attenuated phenotype (without progressive neurocognitive impairment) showed symptom improvement during both the first year (Period 1) and from the end of the first year of treatment to "the present" (Period 2), as measured by CGI-I/PGI-I. 30.3% and 9.1% of severe patients experienced symptom improvement during Periods 1 and 2, respectively, while 63.6% and 51.5% displayed no change. The most common adverse reactions reported were skin rash and other infusion-associated reactions., Conclusions: MPS II adversely affects multiple domains of QoL for patients and families, requiring multiple healthcare services and social aid programs. The majority of patients with either phenotype experienced either improvement or stability in their symptoms during the first year of ERT, but this was clearly less so for patients with the severe phenotype after the first year of treatment.

Context and Objectives: Guidelines recommend that any epileptic seizure that lasts more than 5 min (prolonged seizures) be treated immediately with benzodiazepines in order to prevent progression to status epilepticus. However, there is very little published information on how such seizures are managed outside of the hospital setting, for example in schools or at home. This paper presents the initial results, specific to France, of the Practices in Emergency and Rescue medication For Epilepsy managed with Community-administered Therapy (PERFECT) Initiative, which was set up in 2011 to gain a better understanding of how prolonged convulsive seizures are managed and rescue medication is administered in out-of-hospital settings across Europe., Methods: The PERFECT Initiative was conducted in six countries (France, Germany, Italy, Spain, Sweden, the United Kingdom) and consists of three phases. This paper reports on the first two phases of this study and focuses on findings for France. Phase I of the PERFECT initiative consisted of a review of existing clinical guidelines, guidance to schools, and relevant policy and legal frameworks in France, from both published and web-based sources. Phase II consisted in a telephone survey of 20 pediatricians, pediatric neurologists, and neurologists who treat children with prolonged convulsive seizures in France in order to obtain their views on how prolonged seizures are managed outside of hospitals. Phase III is ongoing and consists of a survey of children with prolonged seizures and their caregivers., Results: Existing clinical guidelines pertain mainly to the hospital setting and contain very little informations on how prolonged seizures should be managed outside the hospital. Guidance to schools is unclear as to whether teachers are allowed to administer rescue medication to children and legal frameworks are full of contradictions. As a result, whether or not children who experience prolonged seizures receive their rescue medication during school hours depends mostly on the resources and training available in each school. Healthcare professionals stated that lack of information on prolonged seizures and their management, as well as a lack of up-to-date guidance specific to schools were considerable obstacles to a systematic approach to managing prolonged seizures outside of the hospital., Discussion: In France and elsewhere, there has been growing recognition of substantial gaps in the provision of care to children with epilepsy in recent years. However, the issues that arise for children who require rescue medication for prolonged seizures outside of hospitals are conspicuously absent from policy documents or clinical guidelines. This lack of information, combined with insufficient training in schools on epilepsy, and inadequate guidelines create a situation in which schools are likely to call an ambulance every time a child has a prolonged seizure, therefore risking delays in treatment, and putting the child at risk of status epilepticus and clinical sequelae, not to mention stigmatization at school., Conclusion: There is a need for more explicit guidance covering educational and healthcare settings, clearer information to parents and schools, and more systematic training to be made available to caregivers in order to ensure that all children at risk of prolonged seizures receive their prescribed rescue medication as quickly as possible, regardless of where their seizure occurs., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

Unlabelled: The Internet is now the single largest source of health information and is used by many patients who are affected by epilepsy and their families., Methods: To assess the quality of information provided by French website on the different forms of epilepsy and their treatment, we used search engines (French pages from Bing, Google and Yahoo) to look for information using the French equivalent of three keywords epilepsy (Épilepsie); epilepsy treatment (Épilepsie traitement) and seizure (Convulsions). The websites were evaluated for content quality by using an adaptation of the validated DISCERN rating instrument. Each website was evaluated by three investigators (a naive observer, a pediatric neurologist and a neurologist)., Results: Most of the information on epilepsy and its treatment were from community websites. We found six French websites which were scored higher than half of the maximal value of our scoring system (≥27.5/55): www.passeportsante.net; fr.wikipedia.org; www.fondation-epilepsie.fr; www.epilepsie-france.fr; www.doctissimo.fr; www.caducee.net., Conclusion: This study provides a list of French websites that have been evaluated for the quality of their information. We did not observe any correlation between the quality of the information and priority on search engine listings. Websites sponsored by patients associations and by institutions should update their content more frequently or work on their search engine indexation to appear higher on search engine listings., (Copyright © 2012. Published by Elsevier Masson SAS.)

Introduction: Education program for patients (EPP) is now a part of the management of patients with chronic disease. According to WHO, the EPP is designed to help patients to maintain or gain self-care skills and adaptive skills necessary to improve their health and their quality of life. Patient education programs have been developed in recent years in several chronic diseases such as diabetes and asthma. In the field of epilepsy, however, adult and child programs have been developed only recently in France. We evaluate the interests for the establishment of an EPP and the topics that the parents and the adolescents would like to be discussed in such courses., Methods: We conducted a qualitative survey, based on interviews of parents of epileptic children and adolescents. The survey was conducted between April and November 2010 in pediatric neurology services of four French university hospitals: Amiens, Nancy, Marseille, and in Robert Debré (Paris) hospital. We investigated the following issues: treatment and self-management, and seizure management, psychosocial difficulties related to epilepsy, anatomical and physiological knowledge of epilepsy and lifestyle., Results: Two topics seem to have the greatest interest for parents of children with epilepsy and adolescents: knowledge about seizures and knowledge of anatomy and physiology of the brain. Adolescents involved in this study gave consistently lower scores in all items compare to parents of children., Conclusion: The medical management of children and adolescents with epilepsy, and their caregivers, is a comprehensive care including the EPP in order to provide a full management of all issues raised by epilepsy. The survey identified key-points that parents and their children would like to learn in an EPP. These data would be helpful to design an EPP., (Copyright © 2012 Elsevier Masson SAS. All rights reserved.)

Background and Aim: The aim of this study was to evaluate the usefulness of systematic screening of asymptomatic neurofibromatosis type 1 (NF1) children with magnetic resonance imaging (MRI)., Patients and Methods: We retrospectively reviewed the MRIs of children diagnosed with NF1 disease according to the National Institutes of Health criteria, who had been followed for at least 1 year by the department of pediatric neurology (Lyon, France). Brain MRI was systematically performed in asymptomatic patients under 6 years of age., Results: One hundred patients with a median follow-up of 3.7 years (range, 1-8.6 years) were reviewed. Brain MRI was performed in a total of 94 children. Nine optic pathway gliomas were detected in symptomatic patients. Six children had symptoms caused by the tumor. Gliomas remained stable in 10 patients; 1 symptomatic glioma in an 8-year-old girl required treatment. Spontaneous regression was seen in 1 patient., Conclusion: Our results suggest that MRI screening of asymptomatic children to detect optic pathway gliomas does not improve the therapeutic decision and should not be performed systematically. We suggest further investigation in collaboration with the French NF Network.

The authors conducted a population-based case-control study to investigate whether clinically observed chickenpox, linked with a level of intensity for clinical expression, increases the risk of multiple sclerosis (MS) in childhood. The cases were MS patients whose disease onset occurred between 1994 and 2003, before age 16 years, in France. Each case was matched for age, sex, and geographic origin with as many as 12 controls randomly selected from the general population. Information about clinically observed chickenpox in cases and controls before the index date regarding onset of MS was collected with a standardized questionnaire and was checked against health certificates. Conditional logistic regression was used to estimate the odds ratio for an association between MS and chickenpox. The 137 MS cases were matched with 1,061 controls. Clinically observed chickenpox had occurred in 76.6% of the cases and 84.9% of their matched controls. The adjusted odds ratio of MS onset associated with chickenpox occurrence was 0.58 (95% confidence interval: 0.36, 0.92). The authors concluded that clinically observed chickenpox was associated with a lower risk of childhood-onset MS in a French population.

Pediatric MS is better understood after a series of epidemiological studies including the French cohort following almost 500 children since more than 7 years. Pediatric MS may have an onset as early as 2 years but symptoms are different than those at adolescence. Its evolution towards a motor handicap is slower than in adults but cognitive impairment have to be evaluated carefully. Interferon beta treatment can be use, if needed, even before the age of 10. Several environmental factors might increase its risk, especially early EBV infection or passive smoking. HBV vaccination does not increase significantly its risk of occurrence.

Objective: To investigate whether vaccination against hepatitis B (HB) increases the risk of incident multiple sclerosis (MS) in childhood in the short and long terms., Design: Case-control study., Setting: Population-based study conducted in France from January 1, 1994, to December 31, 2003., Participants: The case patients had incident MS with onset before age 16 years. Each case was individually matched for age, sex, and geographic location (current place of residence) to 12 control participants randomly selected from the general population of France., Exposure: Hepatitis B vaccine., Main Outcome Measure: The risk of MS associated with HB vaccine exposure., Results: One hundred forty-three case patients with MS were matched to 1122 control participants. The rate of HB vaccination in the 3 years before the index date was approximately 32% for both cases and controls. Vaccination against HB within the 3-year study period was not associated with an increased rate of a first episode of MS (adjusted odds ratio, 1.03; 95% confidence interval, 0.62-1.69). The rate was also not increased for HB vaccination within 6 months of the index date or at any time since birth or as a function of the number of injections or the brand of HB vaccine., Conclusion: Vaccination against HB does not seem to increase the risk of a first episode of MS in childhood.

Unlabelled: Vaccination is a common act in medicine. Some serious side effects are always feared in a preventive action, mainly among high-risk patients such as epileptic children or children having already experienced a seizure., Objectives: To study consequences of such background on the vaccine medical practice., Population and Methods: A retrospective study comparing the vaccine statute of children with or without case history of seizures was carried out by the neurologic and paediatric emergencies departments. The study compared 55 with seizures versus 109 without., Results: On the whole, the 2 groups were insufficiently vaccinated. A statistically significant difference was highlighted between the 2 groups for the vaccination coverage by vaccine DTP (diphtheria-tetanus-pertussis) (P=0.017) and MMR (measles-mumps-rubella) (P=0.004). However, concerning the vaccination against hepatitis B, no difference was found., Conclusion: The usual contra-indications of these vaccines do not explain this difference and progress must be made to improve the vaccination coverage of epileptic children.