117 research outputs found

    Quality of life in patients with locked-in syndrome: Evolution over a 6-year period

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    International audienceBackground: Improved knowledge of the quality of life (QoL) of locked-in syndrome (LIS) patients have implications for managing their care, and assists clinicians in choosing the most appropriate interventions. We performed a survey of a population of LIS patients to describe the course of the QoL of LIS patients over a 6-year period and to determine the potential predictive factors of QoL changes over time. Method: This is a study performed over a 6-year period in patients with a LIS diagnosis. Questionnaires were sent in 2007 and 2013. The following data were recorded: i) sociodemographic data; ii) clinical data related to LIS, physical/handicap status, psychological status; iii) self-reported QoL: Anamnestic Comparative Self-Assessment (ACSA); iv) Integration in life: French Reintegration to Normal Living Index (RNLI). Results: Among the 67 patients included in 2007, 39 (58 %) patients returned their questionnaire in 2013. The LIS etiology was stroke in 51 individuals. The QoL of the patients was relatively satisfactory compared to populations in other severe conditions. Twenty-one (70 %) individuals reported a stable/improved QoL between 2007 and 2013. The physical/handicap statuses in 2007 and 2013 were not related to the QoL 6 years later, with the exception of one communication parameter: the individuals who used yes-no code reported significantly lower QoL levels than those who did not in 2013. Discussion: In opposition to a widespread opinion, LIS persons report a relatively satisfactory QoL level that stays stable over time, suggesting that life with LIS is worth living. Preservation of autonomy and communication may help them to live as normal life as possible

    Epilepsy with migrating focal seizures

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    To report new sporadic cases and 1 family with epilepsy of infancy with migrating focal seizures (EIMFSs) due to KCNT1 gain-of-function and to assess therapies' efficacy including quinidine. We reviewed the clinical, EEG, and molecular data of 17 new patients with EIMFS and KCNT1 mutations, in collaboration with the network of the French reference center for rare epilepsies. The mean seizure onset age was 1 month (range: 1 hour to 4 months), and all children had focal motor seizures with autonomic signs and migrating ictal pattern on EEG. Three children also had infantile spasms and hypsarrhythmia. The identified KCNT1 variants clustered as "hot spots" on the C-terminal domain, and all mutations occurred de novo except the p.R398Q mutation inherited from the father with nocturnal frontal lobe epilepsy, present in 2 paternal uncles, one being asymptomatic and the other with single tonic-clonic seizure. In 1 patient with EIMFS, we identified the p.R1106Q mutation associated with Brugada syndrome and saw no abnormality in cardiac rhythm. Quinidine was well tolerated when administered to 2 and 4-year-old patients but did not reduce seizure frequency. The majority of the KCNT1 mutations appear to cluster in hot spots essential for the channel activity. A same mutation can be linked to a spectrum of conditions ranging from EMFSI to asymptomatic carrier, even in the same family. None of the antiepileptic therapies displayed clinical efficacy, including quinidine in 2 patients

    Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

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    IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi–Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through a European and North American collaboration, we set out to describe the molecular, clinical and interferon status of a cohort of individuals with pathogenic heterozygous mutations in IFIH1. We identified 74 individuals from 51 families segregating a total of 27 likely pathogenic mutations in IFIH1. Ten adult individuals, 13.5% of all mutation carriers, were clinically asymptomatic (with seven of these aged over 50 years). All mutations were associated with enhanced type I interferon signaling, including six variants (22%) which were predicted as benign according to multiple in silico pathogenicity programs. The identified mutations cluster close to the ATP binding region of the protein. These data confirm variable expression and nonpenetrance as important characteristics of the IFIH1 genotype, a consistent association with enhanced type I interferon signaling, and a common mutational mechanism involving increased RNA binding affinity or decreased efficiency of ATP hydrolysis and filament disassembly rate

    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

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    Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual

    Les ataxies progressives non dominantes de l'enfant (proposition d'une démarche diagnostique )

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    Centre Technique Livre Ens. Sup. (774682301) / SudocSudocFranceF

    Démarche diagnostique devant un enfant présentant une mégalencephalie et un retard mental

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    Introduction : Les ME ou gros cerveaux sont définies par un PC strictement supérieur au 98ème percentile pour l âge ou à 2 dérivations standard par rapport à la moyenne et sont souvent associées à un retard mental (RM). Objectif: Identifier les ME au sein d une population d enfants MC et étudier le phénotype des ME isolées pour déterminer des étiologies et des sous-groupes homogènes. Patients et méthodes : Nous avons sélectionné 116 patients avec ME, 29 dossiers de patients dont le PC était supérieur à + 3 DS ont été étudiés rétrospectivement, 27 IRM cérébrales ont été relues. Résultats: 75% des ME étaient isolées avec une nette prédominance masculine, surtout dans le groupe avec PC supérieur à + 3 DS. Tous les garçons avaient un RM. 27% des patients présentaient une augmentation de volume du corps calleux, alors que 14% avaient un corps calleux fin associé une dilatation ventriculaire et que 18% avaient un aspect de polygyrie. Un diagnostic anténatal a été réalisé dans 60% des cas de ME prénatales. Conclusion: Les nouvelles entités décrites avec ME comportent souvent des anomalies du corps calleux et de la gyration nécessitant d être objectivées, comme chez nos patients. Ce travail nous a permis d évoquer des hypothèses étiologiques non testées chez certains de nos patients comme les nouveaux RMLX avec ME. D autres travaux sont nécessaires pour déterminer le pronostic des ME prénatales et pour systématiserl eur prise en charge.Introduction : Megalencephaly is defined by an increased brain volume resulting in a head circumference (HC) greater than the 98th percentile for age or 2 standard deviations above the mean and are often associated with mental retardation. Objective: ldentify megalencephaly in a macrocephalic child population and describe the phenotype of patients with isolated megalencephaly to determine etiologies and common features in groups of patients. Patients and methods : We selected 116 patients with ME, 29 patients with HC above 3 SD were studied retrospectively, 27 cerebral MRI were reread. Results: 75% were isolated ME with major masculine predominance especially in patients with HC above 3 SD. AIl boys had mental retardation. 27% of patients had an increased corpus callosum when 14% had a thin corpus callosum associated with ventriculomegaly and 18% had polygyria. Prenatal diagnosis was made in 60% ofprenatal ME. Conclusion: New ME conditions are often described with corpus callosum and gyration abnormalities needed to be objectively specified, as in our patients. This study aimed to hypothetize untested etiologies in our patients, more particularly in the new XMR conditions with ME. Further studies are necessary to determine the prenatal ME prognosis and to systematize their approach.PARIS13-BU Serge Lebovici (930082101) / SudocSudocFranceF

    Céphalée aux urgences pédiatriques (proposition de protocole de prise en charge diagnostique)

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    PARIS-BIUM (751062103) / SudocCentre Technique Livre Ens. Sup. (774682301) / SudocSudocFranceF

    La Maladie de Gaucher

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    La maladie de Gaucher est une maladie autosomique récessive rare. Cette affection est secondaire au déficit de l’activité de l’enzyme lysosomale glucocérébrosidase qui est responsable de la dégradation du glucosylcéramide provenant de la dégradation des membranes des globules rouges et des globules blancs. En l’absence de l’enzyme, le glucosylcéramide s’accumule dans les lysosomes des cellules (monocytes et macrophages) du système réticulo-endothélial. Cette accumulation entraîne une hépatomégalie, une splénomégalie à l’origine des anomalies hématologiques (leucopénie, anémie, thrombopénie) et des manifestations osseuses. Trois types de maladies de Gaucher sont décrits. Le type 1 est le plus fréquent; les types 2 et 3 comportent des manifestations neurologiques.Les dépôts macrophagiques provoquent des perturbations biologiques : augmentation des taux sanguins de ferritine, de l’enzyme de conversion, des immunoglobulines ; troubles de l’hémostase. Les perturbations lysosomales provoquent dans la plupart des cas l’augmentation des taux sanguins de phosphatases acides tartrate résistantes et de chitotriosidase. Le traitement par l’enzyme de remplacement est disponible en France depuis 1991. En 2002, 136 patients sont traités. L’efficacité est manifeste sur l’asthénie, l’organomégalie et les manifestations hématologiques. Les douleurs osseuses disparaissent ou diminuent en intensité, cependant les complications osseuses peuvent être irréversibles, justifiant de débuter le traitement avant l’apparition des lésions qui peuvent conduire à une impotence fonctionnelle sévère
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