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Introduction
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Publications
Publications (317)
The human genetic dissection of clinical phenotypes is complicated by genetic heterogeneity. Gene burden approaches that detect genetic signals in case-control studies are underpowered in genetically heterogeneous cohorts. We therefore developed a genome-wide computational method, network-based heterogeneity clustering (NHC), to detect physiologica...
Objective: The objective of this study is to retrospectively describe the pathway toward ADHD diagnosis and treatment, and identify potential areas for improvement. Method: Parent-reported questionnaires were collected by a national sample of ADHD specialists. Results: In total, 473 complete questionnaires were analyzed. Initial onset of ADHD sympt...
Résumé
Les enfants présentant un trouble du langage écrit sont parfois dépendants d’un tiers pour les tâches scolaires. L’ordinateur peut donc leur être proposé comme outil palliatif. Divers logiciels et périphériques existent, créés spécifiquement ou non pour ces jeunes. Il n’existe toutefois pas de consensus quant à la démarche de préconisation d...
Children with a written language disorder are sometimes dependent upon help from others for their schoolwork. A computer can be a way to circumvent this difficulty. Various software programs and plug-in peripheral devices are available, some of which specifically target the needs of these young people. There is no consensus, however, with regard to...
Problems in mathematics are a frequent major complaint in neuropediatric departments, for which there are two explanatory theoretical models: the hypothesis of a genetic and modular origin (with a number sense deficit) and a multidetermined origin. The purpose of this paper is to review the mathematical difficulties described in Turner syndrome and...
Objective
Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipramine, a noradrenaline reuptake inhibitor, reduced the number of apneas in Mecp2‐deficient mice, a model of RTT. We planned a phase 2 trial to test its efficacy and its safety on breathing patterns in...
Introduction Necrotizing autoimmune myopathies (NAMs) are acquired myopathies with myofibrillar necrosis and weak or absent inflammatory component, sometimes associated with anti-signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies.
Observation The patient, a girl now aged 20 years, was first asses...
Background
No study dedicated to postdrome symptoms of migraine attacks is available in children and adolescents.
Objective
To study the resolution phase of the migraine attack in children and adolescents.
Methods
100 children and adolescents with ICHD-3 beta migraine without and/or with typical aura were included. Each patient, and one of her/hi...
Résumé
Dans le système nerveux central, le fer est un cofacteur de nombreux processus métaboliques et dans la synthèse des neurotransmetteurs monoaminergiques. Le fer joue un rôle essentiel sur le développement cérébral de la période anténatale à la fin de l’adolescence. La barrière hémato-encéphalique intervient sur la concentration en fer au nive...
The objective was to study the prevalence and characterization of pediatric migraine triggers and to compare results to this retrospective study. A total of 101 pediatric patients with ICHD-II migraine with and/or without aura were instructed to prospectively complete a diary dealing with attacks triggers for a 3-month period. Each subject reported...
A high comorbidity between reading and arithmetic disabilities has already been reported. The present study aims at identifying more precisely patterns of arithmetic performance in children with developmental dyslexia, defined with severe and specific criteria. By means of a standardized test of achievement in mathematics ( Calculation and Number P...
Paroxysmal extreme pain disorder is an autosomal dominant disorder caused by mutation of the SCN9A gene. In most cases, the pain is relieved by carbamazepine. We report on a novel SCN9A mutation associated with carbamazepine-resistant. The proband was a 7-month-old child who suffered from typical attacks from birth onwards. Sequencing of SCN9A reve...
Objectifs
Étudier l’efficacité des triptans prescrits « en situation réelle » dans le traitement de la crise migraineuse avec ou sans aura typique chez l’enfant et l’adolescent.
Sujets/matériels et méthodes
Étude rétrospective, monocentrique, chez les enfants de cinq à dix-huit ans, atteints d’une migraine avec ou sans aura typique vérifiant les c...
Background
Niemann–Pick disease type C is a rare inherited neurodegenerative disease involving impaired intracellular lipid trafficking and accumulation of glycolipids in various tissues, including the brain. Miglustat, a reversible inhibitor of glucosylceramide synthase, has been shown to be effective in the treatment of progressive neurological m...
Résumé
Les troubles spécifiques du langage oral sont caractérisés par une forte hétérogénéité sémiologique. De nombreuses classifications ont tenté d’en rendre compte et d’organiser des sous-groupes sur la base de particularités sémiologiques saillantes. Toutefois, le modèle de tableau sémiologique fixé ne saurait être validé pour des troubles s’in...
Résumé
Contexte
La douleur chronique peut engendrer chez l’enfant un handicap majeur. Pour prendre en compte toutes les dimensions de son modèle bio-psychosocial, le concept d’un traitement multidisciplinaire semble optimal. De tels programmes existent à l’étranger où des études ont montré leur efficacité. Nous avons réalisé une étude rétrospectiv...
The study assessed the 5-year follow-up outcome and possible prognostic factors of migraine subtypes with onset in childhood or adolescence. A total of 343 patients meeting the International Classification of Headache Disorders (ICHD)-II criteria for migraine without aura (MO), migraine with aura (MA), or both MO+MA (ie, 1.1, 1.2) were contacted by...
Objectives:
The Analgesia Nociception Index (ANI), based on heart rate variability analysis, is known to decrease after a painful stimulus during surgery under general anesthesia in adults. It is measured continuously and noninvasively. We studied ANI response to procedural pain in a pediatric population and ANI measurement's feasibility in this c...
Résumé
Le DSM5 a plus d’un an dans sa version anglo-saxonne, et vient d’être publié en français. Des changements, issus de la pratique clinique et des avancées de la recherche, ont été opérés dans la rubrique des troubles de la communication, concernant les troubles du langage. Afin d’appréhender la façon dont le DSM5 traite des troubles spécifique...
Objective: The objective of this study is to retrospectively describe the pathway toward ADHD diagnosis and treatment, and identify potential areas for improvement. Method: Parent-reported questionnaires were collected by a national sample of ADHD specialists. Results: In total, 473 complete questionnaires were analyzed. Initial onset of ADHD sympt...
Recently an early onset lethal encephalopathy has been described in relation to mutations of NFU1, one of the genes involved in iron-sulfur cluster metabolism. We report a new NFU1 mutated patient presenting with a milder phenotype characterized by a later onset, a slowly progressive spastic paraparesis with relapsing-remitting episodes, mild cogni...
Objectives
Healthcare use in children with ADHD is poorly documented. The objective of this national survey was to identify the successive stages of assessment by healthcare professionals leading to ADHD diagnosis and treatment, and potential areas for improvement.
Methods
A cross-sectional survey was conducted in France between 2013/11/04 and 2014...
Classical Lemierre syndrome is a rare and severe disease with thrombosis of the internal jugular vein and metastatic infections. We report on a case of Lemierre-like syndrome secondary to mastoiditis, with a favorable outcome, in a healthy infant presenting with torticollis. Early diagnosis and treatment with antibiotics are necessary to decrease m...
Résumé
Le syndrome de Lemierre classique est une affection rare et grave qui associe une thrombose de la veine jugulaire interne et des emboles septiques. Nous rapportons un cas d’une variante séméiologique de ce syndrome secondaire à une mastoïdite, d’évolution favorable, chez un enfant en bonne santé, aux antécédents d’otite moyenne aiguë et cons...
Anti-NMDAR encephalitis is a serious central nervous system disorder, not well known, that may lead to non specific psychiatric symptoms, ranging from psychosis to catatonia. We report the case of a 15-year-old girl, without significant medical history, hospitalized in a context of first-episode psychosis, quickly followed by agitated and stuporous...
Objectif
Le parcours de soins des patients atteints de TDA/H est mal connu. Cette enquête nationale a pour objectif de préciser les étapes d’évaluation successives menant au diagnostic ainsi qu’au traitement du TDA/H et d’identifier des éléments susceptibles d’être améliorés.
Méthode
Enquête transversale menée en France du 04/11/2013 au 31/01/2014...
Objective
To gain insight into the long-term impact of vagus nerve stimulation (with VNS Therapy) in children with drug-resistant epilepsy, we conducted the largest retrospective multicenter study to date over an extended follow-up period of up to 24months. Methods
The primary objective was to assess change in seizure frequency of the predominant s...
The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.5 Mb. CHRNA7 has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only s...
The concept of specificity is based on exclusion criteria. These criteria are all debatable at different levels : variable cut-off, direct causal link with language impairment, neurological exclusion criteria. Diagnostic practices are therefore quite heterogeneous. This literature review aims to clarify all these points of debate and reach the conc...
The concept of specificity in language impairment remains ambiguous in relation to its root in the congenital aphasia concept (now dysphasia) and its convoluted history. In France the two terminologies SLI and dysphasia co-exist, each with their ambiguities. This literature review aims to trace the history of their conceptual content and the exclus...
Background / Purpose:
Our aims are to report a family sharing the same clinical characteristics of primary erythermalgia with P610T mutation in SCN9A. Majority of patients with primary erythermalgia are unrecognized by the medical profession (1), while effective treatments could be proposed.
Main conclusion:
Primary erythermalgia is a rare but...
La biopsie musculaire représente un acte essentiel dans le diagnostic étiologique des maladies neuromusculaires, principalement des myopathies. Nous rapportons l’évaluation du rendement de la biopsie musculaire dans une population de 415 enfants par l’étude rétrospective de 419 biopsies musculaires réalisées entre le 1/01/2000 et le 31/12/2009, inc...
Neuropsychological consequences of epilepsy will be function of the specific anamnesis of the child, characteristics of epilepsy syndromes, and treatment. The effects of recurrent seizures, iatrogenic effects of medications, and school adaptation are reviewed. The neurodevelopmental origins of comorbidities are detailed, how they develop over time....
Aim To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1).
Method Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7–24y) were assessed using standardized instruments and cognitive testing of general intelligence, visual a...
Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct pattern of minor anomalies, including upslanted palpebral fissures with epicanthal folds, a short nose with broad nasal tip, anteverted nares, long philtrum, and...
Myoclonic epilepsy in infancy (MEI) is a primary generalized epilepsy. According to the literature, the outcome of MEI is usually benign. Here we report a patient who developed myoclonic astatic epilepsy at age four, having been seizure free without antiepileptic drug treatment for 2 years after his recovery from MEI. At age four, a video-EEG-recor...
The prevalence and characterization of migraine triggers have not been rigorously studied in children and adolescents. Using a questionnaire, we retrospectively studied the prevalence of 15 predefined trigger factors in a clinic-based population. In 102 children and adolescents fulfilling the Second Edition of The International Headache Classificat...
Objectif : Des troubles cognitifs sont présents dans la schizophrénie et de façon moins importante dans le trouble bipolaire. Les avancées récentes en neurocognition et plus globalement en neurosciences vont dans le sens d'un continuum entre les deux troubles. Le but de notre étude était de comparer les fonctions neurocognitives d'une population je...
C. Delmas1,2, M-B. Le Long3, L. Vallée1, F. Terranova1, S. Haouzir1, D. Campion2, J. Costentin4, J-M Membrey1, O. Guillin1,2
Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patie...
MicroRNAs (miRNAs) are non-coding gene transcripts involved in post-transcriptional regulation of genes. Recent studies identified miRNAs as important regulators of learning and memory in model organisms. So far, no mutations in specific miRNA genes have been associated with impaired cognitive functions.
In three sibs and two unrelated patients wit...
To describe neuropsychological disturbances and the developmental course associated with cerebellar cortical dysplasia (CCD).
The neuroimaging findings from 10 children (five males, five females; aged 3-10 y) with CCD were reviewed and classified. These children all underwent clinical neurological examination and neuropsychological assessment (NPA)...
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m(2) in adults and ≤ -2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anore...
Omega-3 and omega-6 poly-unsaturated fatty acids (PUFAs) are dietary fatty acids that are involved in a myriad of physiological processes in the brain. Although experimental data have shown that PUFAs have anticonvulsant properties, the outcomes of clinical trials have been controversial. Docosahexaenoic acid (DHA) is a PUFA which has been reported...
We aimed to assess brain regional glucose uptake (rGlcU) changes in children with isolated cerebellar cortical dysplasia (CCD) using 18-fluoro-deoxy-glucose positron emission tomography (FDG-PET). Six children aged 9 months to 11 years at the time of diagnosis, carrying isolated CCD (with no other associated posterior fossa or supratentorial malfor...
Ataxia-telangiectasia (A-T) is a rare genetic disease caused by germline biallelic mutations in the ataxia-telangiectasia mutated gene (ATM) that result in partial or complete loss of ATM expression or activity. The course of the disease is characterized by neurologic manifestations, infections, and cancers.
We studied A-T progression and investiga...
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) </= 18.5 kg per m(2) in adults and </= -2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or a...
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) </= 18.5 kg per m(2) in adults and </= -2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or a...
Spinal muscular atrophy (SMA) is an autosomal recessive disorder associated with homozygous deletion of the survival motor neuron 1 gene (SMN1). Its centromeric copy gene, SMN2, is the major modifying factor. However, the genotype-phenotype correlation is incomplete and is therefore not useful in clinical practice. We studied a cohort of 103 patien...
Interstitial 18q deletions encompassing band 18q12.3 define the del(18)(q12.2q21.1) syndrome. Usual manifestations are mild dysmorphic features, mental retardation, behaviour abnormalities and lack of serious malformation. Seizures have also been found. Recently, more specifically, impairment of expressive language has been reported. We report on t...
This study examined the pattern of results on the Wechsler Intelligence Scale for Children (WISC-IV; French version) for 60 French children with dyslexia, from 8 to 16 years of age. Although use of WISC-III failed to clearly identify typical profiles and cognitive deficits in dyslexia, WISC-IV offers an opportunity to reach these objectives with ne...
To test the hypothesis that predisposition to childhood herpes simplex virus (HSV) type 1 encephalitis (HSE) may be determined in part by human genetic factors.
A genetic epidemiologic survey of childhood HSE (onset at age 3 months to 15 years) over a 20-year period (1985-2004) was conducted throughout France (comprising 29 university hospital neur...
Video-EEG monitoring (v-EEG) was originally restricted to the evaluation for epilepsy surgery. It is now widely available and often utilized to clarify the nature of paroxysmal events or to identify the epileptic syndrome. It is important to define carefully the diagnostic value of this high-cost and time-consuming procedure. Few data on children a...
Tuberous sclerosis complex is a genetic multisystem disease characterized by hamartic development of many organs, most notably the brain, heart, kidneys, lungs, and skin. This autosomic dominant disorder results from mutations in one of two genes, TSC1 and TSC2, coding for hamartin and tuberin, respectively. The hamartin–tuberin complex inhibits th...
Tuberous sclerosis complex is a genetic multisystem disease characterized by hamartic development of many organs, most notably the brain, heart, kidneys, lungs, and skin. This autosomic dominant disorder results from mutations in one of two genes, TSC1 and TSC2, coding for hamartin and tuberin, respectively. The hamartin-tuberin complex inhibits th...
ChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
Late-onset spasms (LOS) are epileptic spasms starting after the first year of life. Our aim was to assess the electroclinical features and the follow-up of the patients with this particular type of epileptic seizure.
We retrospectively included all patients with LOS confirmed by electroencephalography between 1989 and 2008. Clinical and electroence...
The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients with this microdeletion generall...
The prevalence and characterization of premonitory symptoms have not been rigorously studied in children and adolescents. Using a questionnaire, we retrospectively studied the prevalence of 15 predefined premonitory symptoms in a clinic-based population. In 103 children and adolescents fulfilling the International Classification of Headache Disorde...
The ketogenic diet is an adequate treatment for drug-resistant epilepsy and certain inborn metabolic disorders. The efficacy of the ketogenic diet for the treatment of epilepsy is now well established. In France, and more widely in Europe, there is currently no consensus concerning appropriate initiation of the ketogenic diet and subsequent patient...
During the first two years of life, hypotonia may be the only symptom of a central or peripheral nervous system disorder. We propose to assess the sensitivity of electroneuromyography (ENMG) in the aetiological diagnosis of hypotonia of neuromuscular origin in infants and toddlers.
This is a retrospective, single-centre study with revision of the f...
The aim of this 6-month, prospective, multicenter study of 398 children and adolescents with primary headaches was to collect data on headache treatment in neuropediatric departments. Treatments were compared before and after consultation. Prior to consultation, the acute treatments that had been prescribed most frequently were paracetamol (82.2% o...
Inflammatory processes in response to infection are involved in the pathophysiological mechanisms of febrile seizures (FS). Prolonged FS may promote the development of temporal lobe epilepsy. It has been shown in rats that prolonged hyperthermic seizures (HS) are followed by long-term modification of brain excitability. To examine whether short FS...
Inhaled NO (INO), at 5-40 parts per million (ppm) in the air, is indicated for treating neonatal hypoxic respiratory failure. Whether these doses of INO are protective or toxic towards brain was here evaluated in laboratory animals.
In rat neonates (postnatal day 7), a brain injury based on permanent right carotid artery occlusion plus transient (9...
The ketogenic diet is a high-fat, low-protein, low-carbohydrate diet that has been employed as a nonpharmacologic therapy for intractable epilepsy. Several multicenter or randomized studies have demonstrated the anticonvulsive properties of the ketogenic diet. The reports on the clinical efficacy have described a greater than 50% reduction in seizu...
Gastrointestinal symptoms are very frequent in myotonic dystrophy but largely unrecognized. They can be the revealing factors of the disease. We report 2 cases of 10 and 17-year-old children with persistent encopresis starting at the age of 3 and 5 years in spite of laxative treatment. Neurological examination and anorectal manometry provided the d...
Febrile seizures (FS) are the most common etiology of seizure in infants and children. The pathophysiological mechanisms are not clearly understood. We review the current factors that are thought to be involved in FS occurrence. Genetic factors, a fever component (immune response to infection and rise in body temperature), and neurotopic viruses ar...
Convulsive status epilepticus in childhood is a life threatening condition with serious risk of neurological sequelae which constitutes a medical emergency. Clinical and experimental data suggest that prolonged seizures can have immediate and long-term adverse consequences on the immature and developing brain. So the child who presents with a conti...
Febrile seizures (FS) are the most common etiology of seizure in infants and children. The pathophysiological mechanisms are not clearly understood. We review the current factors that are thought to be involved in FS occurrence. Genetic factors, a fever component (immune response to infection and rise in body temperature), and neurotopic viruses ar...
Gastrointestinal symptoms are very frequent in myotonic dystrophy but largely unrecognized. They can be the revealing factors of the disease. We report 2 cases of 10 and 17-year-old children with persistent encopresis starting at the age of 3 and 5 years in spite of laxative treatment. Neurological examination and anorectal manometry provided the d...
Un état de mal convulsif comporte un risque de séquelles à long terme sur le cerveau immature et en développement. Aussi, en pratique, toute crise convulsive généralisée persistante plus de cinq minutes justifie un traitement rapide. Le pronostic est essentiellement déterminé par la cause sous-jacente, l’âge et la durée de l’état de mal. La mortali...
The ketogenic diet (KD) and the modified Atkins diet are effective therapies for intractable epilepsy. We compared retrospectively the KD and modified Atkins diet in 27 children and also assessed serum long chain fatty acid profiles. After 3 months, using an intent-to-treat analysis, the KD was more successful, with >50% seizure reduction in 11/17...
Recent studies have revealed that polyunsaturated fatty acids (PUFAs) have anticonvulsive properties. Clinical trials using PUFAs reported conflicting results. It was suggested that PUFAs have anticonvulsant effects via modifications of brain phospholipids. Moreover, some authors suggested that the effect of the ketogenic diet (KD) leads to a high...
The ketogenic diet is a high-fat, low-protein, low-carbohydrate diet that has been employed as a nonpharmacologic therapy for intractable epilepsy. Several multicenter or randomized studies have demonstrated the anticonvulsive properties of the ketogenic diet. The reports on the clinical efficacy have described a greater than 50% reduction in seizu...
The underlying mechanisms of the ketogenic diet (KD) remain unknown. Involvement of peroxisome proliferator-activated receptor-alpha (PPARalpha) has been suggested. The aim of this study was to assess the anticonvulsant properties of fenofibrate, a PPARalpha agonist. Wistar rats were fed at libitum during 14 days by regular diet, KD, regular diet c...
Chronic daily headache (CDH) affects 2–4% of adolescent females and 0.8–2% of adolescent males. Chronic daily headache is diagnosed when headaches occur more than 4 h/day, 15 headache days per month or more, over a period of 3 consecutive months, without an underlying pathology. It is manifested by severe intermittent, migraine-like headaches as we...
Seizures are the most common pediatric neurologic disorder. This article describes the guidelines of the French Pediatric Neurology Society, highlighting the importance of a thorough history and examination. Paroxysmal nonepileptic events should be excluded. The role of biological and neuroradiological investigations is discussed. An electroencepha...
Depression in children and adolescents with epilepsy is common. Depression worsen quality of life in epilepsy patients. Neurobiological, social, and iatrogenic factors may play a role in depressive disorder development. We report a patient with partial epilepsy secondary to neonatal stroke, who developed depressive disorder as a result of levetirac...
Chronic daily headache (CDH) affects 2-4% of adolescent females and 0.8-2% of adolescent males. Chronic daily headache is diagnosed when headaches occur more than 4h/day, 15 headache days per month or more, over a period of 3 consecutive months, without an underlying pathology. It is manifested by severe intermittent, migraine-like headaches as wel...
