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121 results on '"Peudenier, S."'

5. Intelligence and Executive Functions: A Comprehensive Assessment of Intellectually Gifted Children.

Author

Bucaille, A, Jarry, C, Allard, J, Brosseau-Beauvir, A, Ropars, J, Brochard, S, Peudenier, S, and Roy, A

Subjects
EXECUTIVE function, GIFTED children, FUNCTIONAL assessment, NEUROPSYCHOLOGY, COGNITIVE ability
Abstract

Objective: Executive functions (EFs) play a key role in cognitive and behavioral functioning. Their multiple forms and implications for daily life behaviors mean they are sometimes equated with intelligence. Several elements even suggest that intellectually gifted children (IGC) may present better executive functioning than typical developing children (TDC, children with intelligence in the average range). However, no study has ever completely tested this hypothesis by a comprehensive assessment of EFs in IGC. Method: Results of 30 IGC and 35 TDC aged from 6 to 16 years old were compared through a comprehensive assessment of EFs (inhibition, flexibility, and planning), comprising performance-based and daily life measures. Results: IGC did not differ from TDC in EF performance-based measures. However, they scored higher in parents' and some teachers' ratings, suggesting higher indicators of difficulties in daily life. Conclusions: Contrary to expectations, high intellectual level does not appear to be associated with superior EFs. Surprisingly, parents and teachers of IGC reported more complaints about their executive functioning in everyday life. We put forward different hypotheses to explain this contrast. Further research is needed to better understand this phenomenon, in which neuropsychology has a fundamental role to play. [ABSTRACT FROM AUTHOR]

Published
2023
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11. A new case of Kaufman Oculocerebrofacial Syndrome caused by two new splicing variants in UBE3B

Author

Uguen, K., Ka, C., Planes, M., Audebert-Bellanger, S., Redon, S., Benech, C., Kury, S., Peudenier, S., Autret, S., Gourlaouen, I., Bonneau, D., Odent, S., Bezieau, S., Gilbert-Dussardier, B., Boland, A., Deleuze, J., Le Marechal, C., Le Gac, G., Ferec, C., Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Nantes (UN), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service Génétique Médicale [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Chard-Hutchinson, Xavier, EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), and Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2020

13. Treatment with Ataluren for Duchene Muscular Dystrophy

Author

Mercuri, E, Muntoni, F, Osorio, An, Tulinius, M, Buccella, F, Morgenroth, Lp, Gordish-Dressman, H, Jiang, J, Trifillis, P, Zhu, J, Kristensen, A, Santos, Cl, Henricson, Ek, Mcdonald, Cm, Desguerre, I, Bernert, G, Gosk-Tomek, M, Ille, A, Kellersmann, A, Weiss, S, Pilshofer, V, Balintovà, Z, Danhofer, P, Fabulovà, P, Jurıkovà, L, Fuchsovà, P, Haberlovà, J, Laffargue, F, Sarret, C, Pontier, B, Bellance, R, Sarrazin, E, Sabouraud, P, Magot, A, Mercier, S, Péréon, Y, Cuisset, J-M, Coopman-Degryse, S, Enaud, E, Jacquemont, M-L, Perville, A, Renouil, M, Trommsdorff, V, Verheulpen, D, Fontaine-Carbonnel, S, Vuillerot, C, Peudenier, S, Ropars, J, Audic, F, Chabrol, B, Chabrier, S, Gousse, G, Lagrue, E, Aragon, K, Barnerias, C, Brande, Lv, De Lucia, S, Gidaro, T, Seferian, A, Servais, L, Laugel, V, Espil-Taris, C, Mecili, H, Raffo, E, Ragot-Mandry, S, Borrell, S, Kirschner, J, Gangfuss, A, Henrich, M, Kolbel, H, Schara, U, Sponemann, N, Temme, E, Seeger, J, Hirsch, A, Denecke, J, Johannsen, J, Neu, A, Osinski, D, Rugner, S, Schussler, S, Trollmann, R, Kaindl, A, Schneider, Jb, Stoltenburg, C, Weiss, C, Schreiber, G, Hahn, A, Grzybowski, M, Pavlidou, E, Pavlou, E, Dobner, S, Liptai, Z, Dor, T, Brogna, C, Catteruccia, M, D’Amico, A, Pane, E, Bello, L, Pegoraro, E, Semplicini, C, Albamonte, E, Baranello, G, Comi, G, Govoni, A, Lerario, A, Magri, F, Masson, R, Mauri, E, Sansone, V, Brusa, C, Mongini, T, Ricci, F, Vacchetti, M, Bruno, C, Paniucci, C, Pedemonte, M, Giannotta, M, Pini, A, Messina, S, Sframeli, M, Vita, Gl, Vita, G, Ruggiero, L, Santoro, L, Craiu, D, Motoescu, C, Sandu, C, Teleanu, R, Vasile, D, Hughes, I, Childs, A-M, Alhaswani, Z, Roper, H, Parasuraman, D, Degoede, C, Gowda, V, Manzur, A, Munot, P, Sarkokzy, A, Charlesworth, C, Lemon, J, Turner, L, Spinty, S, Dubrovsky, A, Kornberg, A, Ryan, M, Webster, R, Biggar, Wd, Mcadam, Lc, Mah, Jh, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Abresch, Rt, Joyce, Nc, Cnaan, A, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Clemens, Pr, Abdel-Hamid, H, Connolly, Am, Pestronk, A, Teasley, J, Harper, A, Bertorini, Te, Kuntz, N, Driscoll, S, Day, Jw, Karachunski, P, and Lotze, T.

Subjects
safety, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Duchenne muscular dystrophy, Neurosurgery, STRIDE, effectiveness, Duchenne Muscular Dystrophy, Pediatrics, Dystrophin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Child Development, STRIDE Registry, International database, Internal medicine, medicine, Humans, In patient, Registries, Child, 030304 developmental biology, Pediatric, 0303 health sciences, Brain Diseases, Oxadiazoles, business.industry, Health Policy, Disease progression, Infant, ataluren, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, Treatment Outcome, chemistry, Neurology, Muscle Disorders, Codon, Nonsense, Neuromuscular, Propensity score matching, dystrophin, Nervous System Diseases, business, 030217 neurology & neurosurgery, Natural history study, Research Article
Abstract

Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), DMD genotype–phenotype/–ataluren benefit correlations and ataluren safety. Patients & methods: Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established disease progression predictors (registry cut-off date, 9 July 2018). Results & conclusion: Kaplan–Meier analyses demonstrated that ataluren + SoC significantly delayed age at loss of ambulation and age at worsening performance in timed function tests versus SoC alone (p ≤ 0.05). There were no DMD genotype–phenotype/ataluren benefit correlations. Ataluren was well tolerated. These results indicate that ataluren + SoC delays functional milestones of DMD progression in patients with nmDMD in routine clinical practice. ClinicalTrials.gov identifier: NCT02369731. ClinicalTrials.gov identifier: NCT02369731.

Published
2020

15. Enquête sur la quantité de soins délivrés aux enfants paralysés cérébraux en Bretagne : résultats préliminaires. [A survey of medical and paramedical involvement in children with cerebral palsy in Britanny: preliminary results.]

Author

Sacaze, E., Garlantezec, Ronan, Rémy-Néris, O., Peudenier, S., Rauscent, H., Le Tallec, H., Bernier-Francois, V., Pichancourt, D., Brochard, Sylvain, Service de médecine physique et de réadaptation, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Laboratoire de Traitement de l'Information Medicale (LaTIM), Université européenne de Bretagne - European University of Brittany (UEB)-Télécom Bretagne-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Mines-Télécom [Paris] (IMT), Université de Brest (UBO), Centre de rééducation et de réadaptation fonctionnelles [Trestel], Fondation Motrice, Groupe de Recherche sur la paralysie cérébrale en Bretagne, Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Université européenne de Bretagne - European University of Brittany (UEB)-Université de Brest (UBO)-Télécom Bretagne-Institut Mines-Télécom [Paris] (IMT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)

Subjects
Médicaments, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Appareillages, Rééducation, Soins, Paralysie cérébrale, Traitements
Abstract

International audience; AIM: To describe the amount of medical and paramedical involvement in a sample of Breton children with cerebral palsy as a function of the Gross Motor Function Classification System (GMFCS). MATERIALS AND METHODS: This is a transversal descriptive study. All children with cerebral palsy in Brittany were eligible. Parents who accepted to participate were asked to fill in a questionnaire regarding medical and paramedical involvement with their child. RESULTS: One hundred and thirty-three parents participated. 40.6% of the children were level I on the GMFCS, 20.3% II, 12.03% III, 13.53% IV and 13.53% were level V. Thirty-nine percent of the children took at least one medication (of which 43% were antiepileptic drugs). 33.1% of the children had received at least one injection of botulinum toxin within the year. Forty-four percent used a mobility aid. Eighty-five percent of the children had at least one orthotic device, most often a night ankle-foot orthosis. The median number of rehabilitation sessions per week was 3.85 [0.5-11.5]. The frequency and type of sessions were mostly related to the GMFCS level. CONCLUSION: This study reports high levels of medical and paramedical involvement. Studies must attempt to define optimal practice.

Published
2013

16. Promoting the use of Motor Function Measure (MFM) as outcome measure in patients with Duchenne Muscular Dystrophy (DMD) treated by corticosteroids

Author

Schreiber-Bontemps, A., primary, Brochard, S., additional, Fontaine-Carbonnel, S., additional, Chabrier, S., additional, Gautheron, V., additional, Peudenier, S., additional, Rippert, P., additional, Rauscent, H., additional, Rivier, F., additional, Andoni Urtizberea, J., additional, Fournier-Mehouas, M., additional, Mahé, J.Y., additional, Tiffreau, V., additional, Lagrue, E., additional, Hamroun, D., additional, Poirot, I., additional, Ragot-Mandry, S., additional, Sacconi, S., additional, Puy Haubert, B., additional, Fafin, C., additional, and Vuillerot, C., additional

Published
2015
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33. Severe memory impairment in a child with bihippocampal injury after status epilepticus.

Author

Jambaqué I, Hertz-Pannier L, Mikaeloff Y, Martins S, Peudenier S, and Dulac O

Abstract

Epilepsy may contribute to memory deficits in children, but these deficits are generally mild. We describe the neuropsychological profile of a female who had prolonged status epilepticus at 5 years of age, and then developed temporal lobe epilepsy. Brain magnetic resonance imaging 1 month after the onset of status epilepticus showed marked bilateral hippocampal atrophy that seemed disproportionate to the mild cortico-subcortical atrophy. At the age of 7 years, this child had cognitive impairment (an IQ of 62), which particularly affected her memory. This included short-term memory, and immediate and delayed memory deficits for verbal and visual materials that had a profound impact on everyday life. This observation demonstrates that severe status epilepticus can cause predominant bilateral hippocampal atrophy in childhood. In contrast with children who develop such damage after anoxia, this may result in general cognitive impairment but also in more severe episodic memory deficit. [ABSTRACT FROM AUTHOR]

Published
2006
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34. Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

Author

de Lonlay-Debeney, P., von Kleist-Retzow, J.C., Hertz-Pannier, L., Peudenier, S., Cormier-Daire, V., Berquin, P., Chretien, D., Rotig, A., Saudubray, J.M., Baraton, J., Brunelle, F., Rustin, P., Van der Knaap, M., and Munnich, A.

Abstract

Several mitochondrial diseases are known to occasionally involve the cerebral white matter, namely Leigh syndrome, Kearns-Sayre syndrome, and MELAS syndrome, but in these cases the major finding is alteration in the basal ganglia and brainstem. Here we report on severe diffuse white matter involvement and respiratory chain enzyme deficiency or mitochondrial DNA rearrangement in 5 unrelated families. It is interesting that white matter lesions were the only abnormal neuroradiologic feature in 3 of the 5 families, and multiple small cyst-like white matter lesions were found in 2 of 5 probands. Respiratory chain deficiency should be considered in the diagnosis of severe white matter involvement in childhood. (J Pediatr 2000;136:209-14)

Published
2000
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35. Time-resolved emission spectroscopy of gadolinium vanadate ceramics (GdVO4:Bi3+)

Author

Leppert, J., Peudenier, S., Bayer, E., Grabmaier, B. C., and Blasse, G.

Abstract

The preparation of GdVO4:Bi3+ ceramics is indicated. Bismuth shows a strong tendency to evaporate during the sintering process. Time-resolved emission spectroscopy shows for sufficiently low Bi3+ concentrations subsequently: blue VO43-emission with a decay time corresponding to the transfer rate (106 s-1), yellow VO43--Bi3+ emission, rare-earth impurity emission and VO43--Bi3+ afterglow.

Published
1994
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36. Carney complex revealed by a cerebellar ischaemic stroke in a 6‐year‐old girl.

Author

Acquitter, M., Brenaut, E., Misery, L., Abasq‐Thomas, C., Laparra, V., Peudenier, S., Teissier, R., and Clauser, E.

Subjects
CEREBRAL ischemia, VOMITING, CARNEY complex, GENETIC testing, GENETIC mutation
Abstract

The article presents a case study of a 6-year-old girl who presented with an ischaemic stroke along with malaise and vomiting. It is noted that the later diagnosis revealed that the girl was suffering from Carney complex (CNC). The article also adds that genetic screening is recommended for treatment of such cases to avoid development of cardiac myxomas and the mutation of the PRKAR1A gene.

Published
2018
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37. Epilepsies and time to diagnosis

Author

Cachera, C., Baulac, M., Fagnani, F., Jallon, P., Leveau, J., Loiseau, P., Motte, J., Thomas, P., Vallee, L., Allaire, C., Autret, A., Baldy-Moulinier, M., Clanet, M., Dordain, G., Gastaut, J. L., Giroud, M., Josien, E., Marescaux, C., Masnou, P., Mauguiere, F., Parain, D., Perret, J., Revol, M., Rumbach, L., Tapie, P., Weber, M., Adam, C., Attal, N., Attane, F., Aubrun, P., Ayrivie, N., Badinand-Hubert, N., Bapst-Reiter, J., Barthez-Carpentier, M. A., Bartolomei, F., Bataillard, M., Bednarek, N., Belair, C., Benazet, M., Berges, S., Bergouignan, F. X., Bernard, C., Bernard-Bourzeix, L., Bertran, F., Bertrand, P., Beuriat, P., Billard, C., Bille-Turc, F., Billy, C., Biraben, A., Blanc, A., Boidein, F., Bouayed, N., Boudon, S., Bouillat, J., Boulloche, J., Bredin, A., Brocard, O., Brosset, P., Brunet-Bourgin, F., Cenraud, B., Chaigne, D., Chaix, Y., Chaunu, M. P., Chavot, D., Clavelou, P., Cohadon, S., Collombier, N., Contis, P. E., Convers, P., Couchot, J., Cournelle, M. A., Courtois, S., Croguennec, J. M., Cuisset, J. M., Cuvellier, J. C., D Anglejan, J., Damon, G., Danielli, A., Daubney, P., Bellescize, J., Lumley, L., Recondo, A., Swarte, M., Deffond, D., Delangre, T., Delisse, B., Derambure, P., Derambure, S., Desbordes, P., Desfrancois, F., Destee-Warot, M., Dien, J., Doremus, B., Dourneau-Lethiecq, M. C., Dubois, F., Duche, B., Ducrocq, X., Duhurt, J., Duprey, J., Durand, G., Dusser, A., Escaillas, J. P., Fanjaud, G., Felten, D., Fischer, C., Fontan, D., Formosa, F., Foulon, E., Furby, A., Gallet, S., Galmiche, J., Garde-Arthaud, P., Garrel, S., Gaultier, C., Gauthier, C., Gauthier-Morel, D., Genton, P., Geraud, G., Girard, J. P., Girard-Madoux, M., Gonnaud, P., Goulon-Goeau, C., Gros, S., Grosclaude, M., Gross, M., Gueguen, B., Guinot, H., Haenggeli, C. A., Hamon, J. B., Henlin, J. L., Hevin, B., Hinault, P., Homeyer, P., Hommet, C., Huart, E., Huc, P., Huttin, B., Inglesiakis, L., Isnard, J., Isnard, H., Jogeix, M., Juhel, C., Kahane, P., Kalafat, M., Keo-Kosal, P., Kreib, A. M., Kubler, C., Larrieu, E., Larrieu, J. L., Latinville, D., Le Gallou-Wittenberg, A., Lebas, F., Lebrun-Grandie, P., Leche, J., Legout, A., Legrand, S., Legroux, M., Lemaitre, J. F., Lestavel, P., Levasseur, M., Lienhard, C., Livet, M. O., Louiset, P., Lubeau, M., Lucas, B., Lucas-Daviaud, J., Maillard, S., Maillet-Vioud, M., Mancini, J., Mann, M., Marchal, C., Martini, L., Maupetit, J., Maynard, R., Menage, P., Menard, D., Metreau, R., Milor, M., Minot-Myhie, M. C., Moene, Y., Montagne, B., Montelescaut, M. E., Moreaud, O., Noelle, B., Olmi, X., Orbegozo, J., Ouvrard-Hernandez, A. M., Parsa, A., Pautrizel, B., Pedespan, J. M., Pernes, P., Perrouty, B., Petit, J., Peudenier, S., Picard, A. M., Pierrot-Deseilligny, C., Planque, E., Portha, C., Preux, P. M., Prud Homme, M., Raybaut-Guilhem, D., Rebaud, P., Regi, A., Regi, J. L., Reis, J., Rejou, F., Remy, C., Renard, J. F., Revenu, M., Revol, A., Rey, M., Richelme, C., Ricou, P., Rigal, J. P., Rogez, R., Rousselle, C., Rummens, C., Philippe Ryvlin, Sabouraud, P., Saikali, I., Saudeau, D., Savet, J. F., Schaeffer, J. L., Schaff, J. L., Schoenfelder, F., Schuermans, P., Senant, J., Setiey, A., Sevrin, C., Sivelle, G., Soisson, T., Soubielle, P., Soulages, X., Soulayrol, S., Tabaraud, F., Taillandier, P., Tannier, C., Tarel, V., Taussig, D., Thedrez, F., Tournier, C. L., Turc, J. D., Vanhulle, C., Vaunaize, J., Verier, A., Vernay, D., Visy, J. M., Vongsouthi, C., Vrigneaud, J., Waubant, E., Weichlein, A., Weill, O., Zai, L., Ziegler, F., Zix, C., Zelicourt, M., and Grp, Carole

38. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Author

Antonio, M., Dogan, C., Eymard, B., Puymirat, J., Mathieu, J., Gagnon, C., Attarian, S., Ac Aube-Nathier, Audic, F., Bach, N., Barnerias, C., Al Bedat-Millet, Behin, A., Bellance, R., Rabah BEN YAOU, Bombard, V., Bouhour, F., Boutte, C., Boyer, F., Cances, C., Chabrol, B., Jb Chanson, Chapon, F., Chasseriau, R., Cintas, P., Am Cobo, Colombert, V., Mc Cruz, Jm Cuisset, Deschamps, R., Desguerre, I., Durigneux, J., Duval, F., Espil, C., Fafin, C., Feasson, L., Fradin, M., Furby, A., Goldenberg, A., Grotto, S., Ghorab, K., Guyant-Marechal, L., Heron, D., Isapof, A., Jacquin-Piques, A., Journel, H., Laforet, P., Lagrue, E., Laroche-Raynaud, C., Laugel, V., Lebeau, F., Magot, A., Manel, V., Mayer, M., Mercier, S., Menard, D., Michaud, M., Mc Minot, Rj Morales, Nadaj-Pakleza, A., Jb Noury, Pasquier, L., Pellieux, S., Pereon, Y., Perrier, J., Peudenier, S., Preudhomme, M., Pouget, J., Quijano-Roy, S., Ragot-Mandry, S., Richelme, C., Rivier, F., Sabouraud, P., Sacconi, S., Salort-Campana, E., Sarret, C., Schaeffer, S., Sole, G., Stojkovic, T., Taithe, F., Testard, H., Tiffereau, V., Urtizberea, A., Vanhulle, C., Vial, C., Walther-Louvier, U., Zagnoli, F., Hamroun, D., Bassez, G., CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Centre de Recherches du Service de Santé des Armées (CRSSA), Service de Santé des Armées, Energy Storage and Conversion, Research Institute of Hydro-Québec, Energy Storage and Conversion, Hôpital de la Timone [CHU - APHM] (TIMONE), Department of Medicine, Icahn School of Medicine at Mount Sinai [New York] (MSSM), INVENTAIRE FORESTIER NATIONAL CAEN, Partenaires IRSTEA, Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), Centre de référence Caribéen pour les maladies neuromusculaires (CeRCa), Hôpital Pierre Zobda-Quitman [CHU de la Martinique], CHU de la Martinique [Fort de France]-CHU de la Martinique [Fort de France], Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hospices Civils de Lyon (HCL), Contrôle de la Réponse Immune B et des Lymphoproliférations (CRIBL), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Neurologie Pédiatrique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre de compétences pathologies neuromusculaires [CHU Caen], Département Neurologie [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Paris Descartes - Paris 5 (UPD5), Université d'Angers (UA), Institut de Recherche en Systèmes Electroniques Embarqués (IRSEEM), Université de Rouen Normandie (UNIROUEN), and Normandie Université (NU)-Normandie Université (NU)-École Supérieure d’Ingénieurs en Génie Électrique (ESIGELEC)

Subjects
[SDV]Life Sciences [q-bio]
Abstract

International audience; Background: The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to several limitations of RD registries our challenge was (1) to improve standardization and data comparability; (2) to facilitate interoperability between existing RD registries; (3) to limit the amount of incomplete data; (4) to improve data quality. This report describes the innovative concept of the DM-Scope Registry that was developed to achieve these objectives for Myotonic Dystrophy (DM), a prototypical example of highly heterogeneous RD. By the setting up of an integrated platform attractive for practitioners use, we aimed to promote DM epidemiology, clinical research and patients care management simultaneously.Results: The DM-Scope Registry is a result of the collaboration within the French excellence network established by the National plan for RDs. Inclusion criteria is all genetically confirmed DM individuals, independently of disease age of onset. The dataset includes social-demographic data, clinical features, genotype, and biomaterial data, and is adjustable for clinical trial data collection. To date, the registry has a nationwide coverage, composed of 55 neuromuscular centres, encompassing the whole disease clinical and genetic spectrum. This widely used platform gathers almost 3000 DM patients (DM1 n = 2828, DM2 n = 142), both children (n = 322) and adults (n = 2648), which accounts for > 20% of overall registered DM patients internationally. The registry supported 10 research studies of various type i.e. observational, basic science studies and patient recruitment for clinical trials.Conclusion: The DM-Scope registry represents the largest collection of standardized data for the DM population. Our concept improved collaboration among health care professionals by providing annual follow-up of quality longitudinal data collection. The combination of clinical features and biomolecular materials provides a comprehensive view of the disease in a given population. DM-Scope registry proves to be a powerful device for promoting both research and medical care that is suitable to other countries. In the context of emerging therapies, such integrated platform contributes to the standardisation of international DM research and for the design of multicentre clinical trials. Finally, this valuable model is applicable to other RDs.

42. A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.

Author

Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Küry S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bézieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C, and Uguen K

Subjects
Humans, Facies, Ubiquitin-Protein Ligases, Eye Abnormalities, Intellectual Disability, Microcephaly
Published
2023
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43. Early Seizure Recurrence in Children Admitted for Nonfebrile Seizures in the Emergency Department: A Prospective Study.

Author

Ropars J, Sacaze E, Abalea L, Peudenier S, Vic P, Lemoigno L, Dailland T, Courgeon L, and Lefranc J

Subjects
Child, Humans, Child, Preschool, Prospective Studies, Hospitalization, Risk Factors, Recurrence, Retrospective Studies, Seizures diagnosis, Seizures epidemiology, Seizures complications, Emergency Service, Hospital
Abstract

Objective: This study was aimed to determine the rate, timing, and risk factors of acute recurrence of seizures in the children admitted for nonfebrile seizure in the emergency department (ED)., Methods: This multicenter prospective study was conducted in the ED of three hospitals. All consecutive visits of children aged 28 days to 15 years who attended the ED for a nonfebrile seizure for 1 year were included in the study and prospectively followed. The rate of acute seizure recurrence within 24 hours was evaluated and association with potential risk factor was tested. Timing of seizure recurrence was assessed., Results: A total of 181 ED visits were enrolled. Overall, 19.9% (36/181) of children presented acute seizure recurrence, 50% of seizure recurrence occurred during the 2 hours after ED arrival and 70% within 6 hours. Multivariable analysis showed that age of <5 years and seizure recurrence in the emergency department were associated with a significant increase in acute recurrence risk., Conclusion: Early seizure recurrence is common in children with nonfebrile seizure, with younger children at higher risk. Based on these findings, acute recurrence risk after a nonfebrile seizure should justify to observe the children admitted for a nonfebrile seizure in the ED, especially young children. A larger study should analyze other risk factors associated with increased risk of acute seizure recurrence and help ED management., Competing Interests: None declared., (Thieme. All rights reserved.)

Published
2022
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44. Neuropsychological Profile of Intellectually Gifted Children: A Systematic Review.

Author

Bucaille A, Jarry C, Allard J, Brochard S, Peudenier S, and Roy A

Subjects
Child, Executive Function, Humans, Intelligence, Memory, Short-Term, Neuropsychological Tests, Problem Solving, Child, Gifted psychology
Abstract

Objective: The term intellectually gifted (IG) refers to children of high intelligence, which is classically measured by the intelligence quotient (IQ). Some researchers assume that the cognitive profiles of these children are characterized by both strengths and weaknesses, compared with those of their typically developing (TD) peers of average IQ. The aim of the present systematic review was to verify this assumption, by compiling data from empirical studies of cognitive functions (language, motor skills, visuospatial processing, memory, attention and executive functions, social and emotional cognition) and academic performances., Method: The literature search yielded 658 articles, 15 of which met the selection criteria taken from the Preferred Reporting Items for Systematic Reviews and Meta-Analyses model. We undertook a qualitative summary, to highlight any discrepancies between cognitive functions., Results: IG children exhibited better skills than TD children in a number of domains, including attention, language, mathematics, verbal working memory, shifting, and social problem solving. However, the two groups had comparable skills in visuospatial processing, memory, planning, inhibition, and visual working memory, or facial recognition., Conclusion: Although IG children may have some strengths, many studies have failed to find differences between this population and their TD peers on many other cognitive measures. Just like any other children, they can display learning disabilities, which can be responsible for academic underachievement. Further studies are needed to better understand this heterogeneity. The present review provides pointers for overcoming methodological problems and opens up new avenues for giftedness research.

Published
2022
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45. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

Author

Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Frémond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldán A, García-Pérez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenço CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, and Crow YJ

Subjects
Autoimmune Diseases of the Nervous System genetics, Autoimmune Diseases of the Nervous System immunology, Cell Line, DNA immunology, Gene Expression Regulation genetics, Gene Expression Regulation immunology, HCT116 Cells, HEK293 Cells, Hereditary Autoinflammatory Diseases genetics, Hereditary Autoinflammatory Diseases immunology, Humans, Membrane Proteins metabolism, Nervous System Malformations genetics, Nervous System Malformations immunology, Nucleotides, Cyclic biosynthesis, Nucleotidyltransferases metabolism, Chromatin metabolism, Histones metabolism, Interferon Type I biosynthesis, RNA Precursors metabolism, RNA-Binding Proteins genetics, Ribonucleoprotein, U7 Small Nuclear genetics
Abstract

Inappropriate stimulation or defective negative regulation of the type I interferon response can lead to autoinflammation. In genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, we identified biallelic mutations in LSM11 and RNU7-1, which encode components of the replication-dependent histone pre-mRNA-processing complex. Mutations were associated with the misprocessing of canonical histone transcripts and a disturbance of linker histone stoichiometry. Additionally, we observed an altered distribution of nuclear cyclic guanosine monophosphate-adenosine monophosphate synthase (cGAS) and enhanced interferon signaling mediated by the cGAS-stimulator of interferon genes (STING) pathway in patient-derived fibroblasts. Finally, we established that chromatin without linker histone stimulates cyclic guanosine monophosphate-adenosine monophosphate (cGAMP) production in vitro more efficiently. We conclude that nuclear histones, as key constituents of chromatin, are essential in suppressing the immunogenicity of self-DNA.

Published
2020
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46. A Hemimotor Deficit in an 18-Month-Old Boy Revealing Acute Myelitis.

Author

Gelebart C, Sacaze E, Peudenier S, Legeas O, and Ropars J

Subjects
Humans, Infant, Magnetic Resonance Imaging, Male, Motor Disorders complications, Myelitis, Transverse complications, Spinal Cord diagnostic imaging, Spinal Cord pathology, Motor Disorders diagnostic imaging, Motor Disorders pathology, Myelitis, Transverse diagnostic imaging, Myelitis, Transverse pathology
Abstract

Competing Interests: None.

Published
2019
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47. Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?

Author

Ropars J, Barnerias C, Hully M, Chabalier D, Peudenier S, Barzic A, Cros P, and Desguerre I

Subjects
Anthropometry, Body Size, Disease Progression, Female, Humans, Infant, Male, Respiratory Insufficiency complications, Respiratory Insufficiency pathology, Spinal Muscular Atrophies of Childhood complications, Spinal Muscular Atrophies of Childhood pathology, Respiratory Insufficiency diagnosis, Spinal Muscular Atrophies of Childhood diagnosis, Thorax pathology
Abstract

Since respiratory insufficiency is the first cause of morbidity and mortality in spinal muscular atrophy type 1 (SMA 1), specific respiratory outcome measures are needed to evaluate changes and assess innovative therapies. In this study, thoracic circumference (TC) was used as a proxy for chest growth and an indirect measurement of respiratory function. The anthropometric parameters including TC and head-circumference (HC) were evaluated from birth to 13 months in 19 infants with SMA 1 and 124 control infants. TC was significantly decreased in the SMA 1 group from the first weeks of life. The control group TC/HC ratio = 1 (± 0.04), and was not found to be associated with age. By contrast, it decreased with time in all infants with SMA 1 and those with a TC/HC ratio <0.85 died within 3 months. TC is a simple measurement that provided an index of chest growth and was used as evidence of early, progressive respiratory failure and under-development of the rib-cage in SMA 1. The TC/HC ratio decreased in all patients over time, reflecting the progression of the disease suggesting that TC/HC ratio could be a new measure for SMA 1 for measuring disease severity and prognosis., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Published
2019
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48. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Author

Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, and Bassez G

Subjects
Adolescent, Arrhythmias, Cardiac epidemiology, Arrhythmias, Cardiac etiology, Child, Child, Preschool, Evidence-Based Medicine, Female, Foot Deformities epidemiology, Foot Deformities etiology, France epidemiology, Humans, Infant, Infant, Newborn, Male, Muscle Weakness epidemiology, Muscle Weakness etiology, Myotonic Dystrophy complications, Myotonic Dystrophy epidemiology, Myotonic Dystrophy genetics, Registries, Respiratory Insufficiency epidemiology, Respiratory Insufficiency etiology, Severity of Illness Index, Trinucleotide Repeat Expansion, Arrhythmias, Cardiac physiopathology, Muscle Weakness physiopathology, Myotonic Dystrophy physiopathology, Respiratory Insufficiency physiopathology
Abstract

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.)

Published
2019
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49. Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.

Author

Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, and Cances C

Subjects
Child, Preschool, Disease Progression, Female, France, Humans, Infant, Infant, Newborn, Male, Muscular Atrophy, Spinal genetics, Mutation, Phenotype, Prognosis, Respiration, Artificial, Respiratory Distress Syndrome, Newborn genetics, Retrospective Studies, DNA-Binding Proteins genetics, Muscular Atrophy, Spinal diagnosis, Respiratory Distress Syndrome, Newborn diagnosis, Transcription Factors genetics
Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and late-onset cases have recently been reported, although not meeting the established diagnostic criteria, these cases have been genotyped. We thus conducted a national multicenter observational retrospective study to determine the prognosis of children with SMARD1 according to their phenotype. We recorded all known French pediatric cases with mutations identified on the immunoglobulin μ-binding protein 2 gene and the presence of respiratory symptoms. Thirty centers provided 22 observations. A diaphragmatic palsy was diagnosed 1.5 months (p = 0.02) after first respiratory symptoms, and hypotonia preceded areflexia by 4 months (p = 0.02). Early onset of symptoms leading to specialist consultation before the age of 3 months was associated with a significantly worse prognosis (p < 0.01). Among the 6 patients who were still alive, all were tracheostomized. Only one case survived beyond 2 years without artificial ventilation. The remaining patients died at a median age of 7 months. Our results may help pediatricians to provide medical information to parents and improve the decision-making process of setting up life support., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Published
2019
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50. [Pain in children with neurological impairment: A review from the French Pediatric Neurology Society].

Author

Avez-Couturier J, Joriot S, Peudenier S, and Juzeau D

Subjects
Child, Humans, Pain etiology, Pain Management, Pain Measurement, Risk Factors, Nervous System Diseases complications, Pain diagnosis
Abstract

Management of pain is one of the major expectations of children with neurological impairment and their families. The medical literature is poor on this topic accounting for approximately 0.15 % of the publications on pain in general. The objective of the French Pediatric Neurology Society was to review the current knowledge on this topic. Bibliographic research was conducted with PubMed and RefDoc for publications between 1994 and 2014 in French or English. A total of 925 articles were retrieved and 92 were selected for review. Pain is common in this population: a 2-week survey indicated that pain occurs in 50-75 % of children. Pain negatively impacts the quality of life of children and their parents. Children with neurological impairment express their pain with pain expression patterns and specific patterns common to children (change of tone, abnormal movements, spasticity, paradoxical reactions, such as laughter, self-injury or vasomotor dysfunction). Some children with neurological impairment are able to use self-report pain scales. If not, observational measures should be used. Behavioral rating scales specifically designed for this population are more sensitive than others. Scales must be selected according to children's communication skills, type of pain, and the context. Sometimes behavioral changes are the only expression of pain: any change in sleep, tone, feeding, or mood must suggest pain in this population. Management of pain remains difficult. There are no specific guidelines. Procedural pain management guidelines and the usual analgesic drugs can be used in children with neurological impairment with specific concerns regarding tolerance and side effects. These children are particularly at risk for neuropathic pain. A multidisciplinary approach is helpful, involving physicians, nurses, physiotherapists, psychologists and parents., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

Published
2018
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