28 results on '"Lardennois, C."'
Search Results
2. Effectiveness of simulation-based echocardiography training for neonatology residents: A randomized controlled trial.
- Author
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Blanchetière, A., Guillouët, E., Favrais, G., Lardennois, C., Bellot, A., and Savey, B.
- Abstract
Transthoracic echocardiography (TTE) is a valuable tool in neonatal intensive care units (NICUs) and allows rapid hemodynamic evaluation. Increasingly, fast TTE is performed not only by cardiologists but also by neonatologists, to support bedside clinical decision-making. These changes imply a new need for training, which is not easy to achieve due to the instability of critically ill neonatal patients, who do not always tolerate long-lasting TTE, necessary for good-quality teaching. Also, simulation-based training using high-technology neonatal echocardiography simulators might be a good approach for residents training. This study aimed to demonstrate the benefits of simulation-based training for neonatal echocardiography learning. This study was a multicentered randomized controlled trial, involving residents from 3 French NICUs, comparing a control group with theorical and bedside training, with a simulation group with theorical training, a 3-hour simulation session and bedside training. An evaluation using the EchoComNeo simulator was conducted at 3 and 6 months from initial training based on two scoring methods by two evaluators: a reference score for quality of TTE sections, and a custom-made score to assess the recognition of the anatomical structures. TTE duration and resident's satisfaction was also assessed. From May 2021 to May 2023, 52 residents were randomized, 17 in the control group and 35 in the simulation group. At 3 months, residents in the simulation group exhibited a higher mean score for both the reference score (11.5 ± 2.3 points versus 7.4 ± 3.4 points, P < 0.001) and the custom-made score (25.8 ± 5.3 points versus 16.9 ± 7.8 points, P < 0.001) than residents in the control group. At 6 months, the difference between groups remained significant. TTE duration did not significantly differ between groups. The custom-made score showed good agreement with the reference score (Fig. 1). Simulation-based training seems to be a valuable approach for echocardiography training of NICU residents and should be developed to more extensive training courses. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
3. Évaluation de la concordance entre recommandations et pratiques transfusionnelles en unités de soins intensifs néonataux
- Author
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Royon, V., Lardennois, C., Maréchal, I., Dureuil, B., Marret, S., and Laudenbach, V.
- Published
- 2012
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4. Cerebral Palsy in Very Preterm Infants: A Nine-Year Prospective Study in a French Population-Based Tertiary Center
- Author
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Chollat, Clément, primary, Bertrand, Emmanuelle, additional, Petit-Ledo, Alice, additional, de Vansay, Caroline, additional, Voisin, Caroline, additional, Dabaj, Ivana, additional, Gillibert, André, additional, Marret, Stéphane, additional, Lévêque, C., additional, Simenel, J.-L., additional, Pauthier, S., additional, Levavasseur, C., additional, Pop, I., additional, Grancher, N., additional, Lefebure, A., additional, Vittecoq, C., additional, Dabbagh, D., additional, Machevin, E., additional, Levy, M., additional, Taleb, F., additional, Lahrach, H., additional, Rhali, H., additional, Richet, B., additional, Delaunay, F., additional, Bruel, H., additional, Selim, A., additional, Jaffray, M., additional, Durand-Réville, M., additional, Sarreau, C., additional, Celik, S., additional, Le Digabel, J.-F., additional, Stoller, J., additional, Muszynski, H., additional, Rouha, M., additional, Verspyck, E., additional, Chadi, A., additional, and Lardennois, C., additional
- Published
- 2021
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- View/download PDF
5. Prise en charge périnatale et devenir neurologique à moyen terme des nouveau-nés hospitalisés pour maladie hémolytique par immunisation anti-D
- Author
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Gobalakichenane, P., Lardennois, C., Galène-Gromez, S., Brossard, V., Marpeau, L., Verspyck, E., and Marret, S.
- Published
- 2008
- Full Text
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6. Congenital rubella with bilateral cataract detected at 5 weeks
- Author
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Lardennois, C, Radi-Bencteux, S, Trestard, L, Marret, S, Grangeot-Keros, L, and Buffet-Janvresse, C
- Published
- 2004
7. Re-hospitalization in infants younger than 29 weeksʼ gestation in the EPIPAGE cohort
- Author
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Lamarche-Vadel, A, Blondel, B, Truffert, P, Burguet, A, Cambonie, G, Selton, D, Arnaud, C, Lardennois, C, du Mazaubrun, C, NʼGuyen, S, Mathis, J, Bréart, G, and Kaminski, M
- Published
- 2004
8. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
- Author
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Wolff, M. (Markus), Johannesen, K.M. (Katrine M.), Hedrich, U.B.S. (Ulrike B. S.), Masnada, S. (Silvia), Rubboli, G. (Guido), Gardella, E. (Elena), Lesca, G. (Gaetan), Ville, D. (Dorothée), Milh, M. (Mathieu), Villard, L. (Laurent), Afenjar, A. (Alexandra), Chantot-Bastaraud, S. (Sandra), Mignot, A., Lardennois, C. (Caroline), Nava, C. (Caroline), Schwarz, N. (Niklas), Gérard, M. (Marion), Perrin, L. (Laurence), Doummar, D. (Diane), Auvin, S. (Stéphane), Miranda, M.J. (Maria J.), Hempel, M. (Maja), Brilstra, E. (Eva), Knoers, N.V.A.M. (Nine), Verbeek, N.E. (Nienke), Kempen, M.J.A. (M. J A) van, Braun, K.P. (Kees P.), Mancini, G.M.S. (Grazia), Biskup, S. (Saskia), Hörtnagel, K. (Konstanze), Döcker, M. (Miriam), Bast, T. (Thomas), Loddenkemper, T. (Tobias), Wong-Kisiel, L. (Lily), Baumeister, F.M. (Friedrich M.), Fazeli, W. (Walid), Striano, P. (Pasquale), Dilena, R. (Robertino), Fontana, E. (Elena), Zara, F. (Federico), Kurlemann, G. (Gerhard), Klepper, J. (Joerg), Thoene, J.G. (Jess G.), Arndt, D.H. (Daniel H.), Deconinck, N. (Nicolas), Schmitt-Mechelke, T. (Thomas), Maier, O. (Oliver), Muhle, H. (Hiltrud), Wical, B. (Beverly), Finetti, C. (Claudio), Brückner, R. (Reinhard), Pietz, J. (Joachim), Golla, G. (Günther), Jillella, D. (Dinesh), Linnet, K.M. (Karen M.), Charles, P. (Perrine), Moog, U. (Ute), Õiglane-Shlik, E. (Eve), Mantovani, J.F. (John F.), Park, K. (Kristen), Deprez, M. (Marie), Lederer, D. (Damien), Mary, S. (Sandrine), Scalais, E. (Emmanuel), Selim, L. (Laila), Coster, R.N.A. (R. N A) van, Lagae, L. (Lieven), Nikanorova, M. (Marina), Hjalgrim, H. (Helle), Korenke, G.C. (Christoph), Trivisano, M. (Marina), Specchio, N. (Nicola), Ceulemans, B. (Berten), Dorn, T. (Thomas), Helbig, K.L. (Katherine L.), Hardies, K. (K.), Stamberger, H. (Hannah), Jonghe, P. (P.) de, Weckhuysen, S. (Sarah), Lemke, J.R. (Johannes R.), Krägeloh-Mann, I. (Ingeborg), Helbig, I. (Ingo), Kluger, G. (Gerhard), Lerche, H. (Holger), Møller, R.S. (Rikke), Wolff, M. (Markus), Johannesen, K.M. (Katrine M.), Hedrich, U.B.S. (Ulrike B. S.), Masnada, S. (Silvia), Rubboli, G. (Guido), Gardella, E. (Elena), Lesca, G. (Gaetan), Ville, D. (Dorothée), Milh, M. (Mathieu), Villard, L. (Laurent), Afenjar, A. (Alexandra), Chantot-Bastaraud, S. (Sandra), Mignot, A., Lardennois, C. (Caroline), Nava, C. (Caroline), Schwarz, N. (Niklas), Gérard, M. (Marion), Perrin, L. (Laurence), Doummar, D. (Diane), Auvin, S. (Stéphane), Miranda, M.J. (Maria J.), Hempel, M. (Maja), Brilstra, E. (Eva), Knoers, N.V.A.M. (Nine), Verbeek, N.E. (Nienke), Kempen, M.J.A. (M. J A) van, Braun, K.P. (Kees P.), Mancini, G.M.S. (Grazia), Biskup, S. (Saskia), Hörtnagel, K. (Konstanze), Döcker, M. (Miriam), Bast, T. (Thomas), Loddenkemper, T. (Tobias), Wong-Kisiel, L. (Lily), Baumeister, F.M. (Friedrich M.), Fazeli, W. (Walid), Striano, P. (Pasquale), Dilena, R. (Robertino), Fontana, E. (Elena), Zara, F. (Federico), Kurlemann, G. (Gerhard), Klepper, J. (Joerg), Thoene, J.G. (Jess G.), Arndt, D.H. (Daniel H.), Deconinck, N. (Nicolas), Schmitt-Mechelke, T. (Thomas), Maier, O. (Oliver), Muhle, H. (Hiltrud), Wical, B. (Beverly), Finetti, C. (Claudio), Brückner, R. (Reinhard), Pietz, J. (Joachim), Golla, G. (Günther), Jillella, D. (Dinesh), Linnet, K.M. (Karen M.), Charles, P. (Perrine), Moog, U. (Ute), Õiglane-Shlik, E. (Eve), Mantovani, J.F. (John F.), Park, K. (Kristen), Deprez, M. (Marie), Lederer, D. (Damien), Mary, S. (Sandrine), Scalais, E. (Emmanuel), Selim, L. (Laila), Coster, R.N.A. (R. N A) van, Lagae, L. (Lieven), Nikanorova, M. (Marina), Hjalgrim, H. (Helle), Korenke, G.C. (Christoph), Trivisano, M. (Marina), Specchio, N. (Nicola), Ceulemans, B. (Berten), Dorn, T. (Thomas), Helbig, K.L. (Katherine L.), Hardies, K. (K.), Stamberger, H. (Hannah), Jonghe, P. (P.) de, Weckhuysen, S. (Sarah), Lemke, J.R. (Johannes R.), Krägeloh-Mann, I. (Ingeborg), Helbig, I. (Ingo), Kluger, G. (Gerhard), Lerche, H. (Holger), and Møller, R.S. (Rikke)
- Abstract
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatme
- Published
- 2017
- Full Text
- View/download PDF
9. CLINICAL HETEROGENEITY AND ITS POTENTIAL THERAPEUTIC IMPLICATIONS IN CHILDREN WITH SCN2A-RELATED DISORDERS
- Author
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Ceulemans, B., Lederer, D., Dorn, T., Helbig, K. L., Hardies, K., Stamberger, H., de Jonghe, P., Weckhuysen, S., Lemke, J. R., Helbig, I, Kluger, G., Moller, R. S., Johannesen, K. M., Wolf, M., Masnada, S., Rubboli, G., Gardella, E., Milh, M., Villard, L., Mignot, C., Lardennois, C., Bourel-Ponchel, Emilie, Nava, C., Lesca, G., Gerard, M., Perrin, L., Doummar, D., Auvin, S., Miranda, M. J., Brilstra, E., Knoers, N., Doecker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B., Finetti, C., Brueckner, R., Pietz, J., Golla, G., Jillella, D., Afenjar, A., Linnet, K. M., Charles, P., Oiglane-Slik, E., Mantovani, J. F., Deprez, M., Scalais, E., Lagae, L., Nikanorova, M., Hjalgrim, H., Depienne, C., Scheidecker, S., Kremer, V, Doray, B., Alembik, y., University of British Columbia (UBC), Pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) - Hôpital de la Timone, Ecole Polytechnique Fédérale de Lausanne (EPFL), Université de Strasbourg (UNISTRA), Centre National de la Recherche Scientifique (CNRS), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Insulaire du Vivant et de l'Environnement (LIVE), Université de la Nouvelle-Calédonie (UNC), Service de neuropédiatrie et maladies métaboliques [CHU Robert-Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Department of Child Neurology, Development and Rehabilitation [Hospital of Eastern Switzerland], Children's Hospital of Eastern Switzerland St.Gallen, Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de médecine interne et centre de référence des maladies rares [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], IMEC (IMEC), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Statens seruminstitut, and Les Hôpitaux Universitaires de Strasbourg (HUS)
- Subjects
[SDV]Life Sciences [q-bio] ,ComputingMilieux_MISCELLANEOUS - Abstract
International audience
- Published
- 2016
10. Séquence de Pierre Robin : intérêt de la polygraphie en période néonatale
- Author
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Félix, O., primary, Lubrano-Lavadera, M., additional, Lardennois, C., additional, and Marguet, C., additional
- Published
- 2017
- Full Text
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11. P-230 – Une forme familiale de Treacher Collins avec une présentation clinique différente
- Author
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David, B., primary, Lezoul, S., additional, Maguer, D., additional, Lardennois, C., additional, Lubrano, M., additional, Rerolle, S., additional, Layet, V., additional, and Bruel, H., additional
- Published
- 2015
- Full Text
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12. SFP PC-79 – Place de l’Exsanguino-transfusion dans la coqueluche maligne
- Author
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Pinto Cardoso, G., primary, Labarre, A., additional, Cotillon, M., additional, Lardennois, C., additional, Chadie, A., additional, Rondeau, S., additional, Torre, S., additional, Galene-Gromez, S., additional, Blanc, T., additional, Marret, S., additional, and Pinquier, D., additional
- Published
- 2014
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13. Cytomégalovirus néonatal et allaitement maternel chez le nouveau-né prématuré. Quelles propositions ?
- Author
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Radi, S., Janvresse, C., Lardennois, C., Michel, C., Brossard, V., and Marret, S.
- Published
- 2007
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14. Prenatal revelation of Niemann-Pick disease type C in siblings.
- Author
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Moreno R, Lardennois C, Drouin-Garraud V, Verspyck E, Marret S, and Laquerrière A
- Published
- 2008
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15. Distractor-induced saccade trajectory curvature reveals visual contralateral bias with respect to the dominant eye.
- Author
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Chaumillon R, Alahyane N, Senot P, Lemoine-Lardennois C, Doré-Mazars K, Vergilino-Perez D, and Guillaume A
- Subjects
- Humans, Photic Stimulation methods, Reaction Time physiology, Dominance, Ocular, Saccades, Visual Perception physiology
- Abstract
The functional consequences of the visual system lateralization referred to as "eye dominance" remain poorly understood. We previously reported shorter hand reaction times for targets appearing in the contralateral visual hemifield with respect to the dominant eye (DE). Here, we further explore this contralateral bias by studying the influence of laterally placed visual distractors on vertical saccade trajectories, a sensitive method to assess visual processing. In binocular conditions, saccade trajectory curvature was larger toward a distractor placed in the contralateral hemifield with respect to the DE (e.g., in the left visual hemifield for a participant with a right dominant eye) than toward one presented in the ipsilateral hemifield (in the right visual hemifield in our example). When two distractors were present at the same time, the vertical saccade showed curvature toward the contralateral side. In monocular conditions, when one distractor was presented, a similar larger influence of the contralateral distractor was observed only when the viewing eye was the DE. When the non dominant eye (NDE) was viewing, curvature was symmetric for both distractor sides. Interestingly, this curvature was as large as the one obtained for the contralateral distractor when the DE was viewing, suggesting that eye dominance consequences rely on inhibition mechanisms present when the DE is viewing. Overall, these results demonstrate that DE influences visual integration occurring around saccade production and support a DE-based contralateral visual bias., (© 2022. The Author(s).)
- Published
- 2022
- Full Text
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16. Most clinicians followed a new protocol for managing early-onset sepsis for preterm infants, but a fifth of preterm infants received antibiotics for longer than necessary.
- Author
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Benard M, Lardennois C, Boyer S, and Marret S
- Subjects
- Humans, Infant, Infant, Newborn, Infant, Premature, Risk Factors, Anti-Bacterial Agents therapeutic use, Sepsis drug therapy
- Published
- 2022
- Full Text
- View/download PDF
17. Quantifying eye dominance strength - New insights into the neurophysiological bases of saccadic asymmetries.
- Author
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Tagu J, Doré-Mazars K, Vergne J, Lemoine-Lardennois C, and Vergilino-Perez D
- Subjects
- Adult, Analysis of Variance, Female, Humans, Male, Photic Stimulation, Time Factors, Young Adult, Attention physiology, Dominance, Ocular physiology, Neurophysiology, Saccades physiology
- Abstract
The saccadic system presents asymmetries. Notably, saccadic peak velocity is higher in temporal than in nasal saccades, and in centripetal than in centrifugal saccades. It has already been shown that eye dominance strength relates to naso-temporal asymmetry, but its links with centripetal-centrifugal asymmetry has never been tested. The current study tested both naso-temporal and centripetal-centrifugal asymmetries simultaneously to provide a finer and continuous measure of eye dominance strength. We asked 63 participants to make centripetal and centrifugal saccades from five different locations. Analysis of saccadic peak velocity shows that eye dominance strength modulates every saccadic asymmetry tested. For the first time, we propose a graduated measure of eye dominance strength on a continuum model. The model ranges from weak to very strong eye dominance. Weak eye dominance corresponds to increased saccadic asymmetries whereas strong eye dominance corresponds to no asymmetries. Furthermore, our results provide new insights into the neurophysiological origins of saccadic asymmetries. Modulation of both naso-temporal and centripetal-centrifugal asymmetries by eye dominance strength supports the involvement of V1 in these saccadic asymmetries., (Copyright © 2018 Elsevier Ltd. All rights reserved.)
- Published
- 2018
- Full Text
- View/download PDF
18. Recentering bias for temporal saccades only: Evidence from binocular recordings of eye movements.
- Author
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Tagu J, Doré-Mazars K, Vergne J, Lemoine-Lardennois C, and Vergilino-Perez D
- Subjects
- Adult, Bias, Female, Humans, Male, Young Adult, Eye Movements physiology, Fixation, Ocular physiology, Saccades physiology, Vision, Binocular physiology
- Abstract
It is well known that the saccadic system presents multiple asymmetries. Notably, temporal (as opposed to nasal) saccades, centripetal (as opposed to centrifugal) saccades (i.e., the recentering bias) and saccades from the abducting eye (as opposed to the concomitant saccades from the adducting eye) exhibit higher peak velocities. However, these naso-temporal and centripetal-centrifugal asymmetries have always been studied separately. It is thus unknown which asymmetry prevails when there is a conflict between both asymmetries, i.e., in case of centripetal nasal saccades or centrifugal temporal saccades. This study involved binocular recordings of eye movements to examine both the naso-temporal and centripetal-centrifugal asymmetries so as to determine how they work together. Twenty-eight participants had to make saccades toward stimuli presented either centrally or in the periphery in binocular conditions. We found that temporal and abducting saccades always exhibit higher peak velocities than nasal and adducting saccades, irrespective of their centripetal or centrifugal nature. However, we showed that the velocity advantage for centripetal saccades is only found for temporal and not for nasal saccades. Such a result is of importance as it could provide new insights about the physiological origins of the asymmetries found in the saccadic system.
- Published
- 2018
- Full Text
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19. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
- Author
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Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, and Møller RS
- Subjects
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Denmark epidemiology, Epilepsy epidemiology, Female, Humans, Infant, Male, Mutation, Phenotype, Young Adult, Epilepsy drug therapy, Epilepsy genetics, Epilepsy physiopathology, NAV1.2 Voltage-Gated Sodium Channel genetics, NAV1.2 Voltage-Gated Sodium Channel physiology, Neurodevelopmental Disorders genetics, Sodium Channel Blockers therapeutic use
- Abstract
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatment regimen and the course of the epilepsy in 66 patients for which well-documented medical information was available. We find that the use of sodium channel blockers was often associated with clinically relevant seizure reduction or seizure freedom in children with early infantile epilepsies (<3 months), whereas other antiepileptic drugs were less effective. In contrast, sodium channel blockers were rarely effective in epilepsies with later onset (≥3 months) and sometimes induced seizure worsening. Regarding the genetic findings, truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells-together with data from the literature-suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, characterized by slowing of fast inactivation, acceleration of its recovery or increased persistent sodium current. Further, a good response to sodium channel blockers clinically was found to be associated with a relatively small gain-of-function. In contrast, mutations in patients with late-onset forms and an insufficient response to sodium channel blockers were associated with loss-of-function effects, including a depolarizing shift of voltage-dependent activation or a hyperpolarizing shift of channel availability (steady-state inactivation). Our clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy., (© The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
- Published
- 2017
- Full Text
- View/download PDF
20. Asymmetry in visual information processing depends on the strength of eye dominance.
- Author
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Chaumillon R, Alahyane N, Senot P, Vergne J, Lemoine-Lardennois C, Blouin J, Doré-Mazars K, Guillaume A, and Vergilino-Perez D
- Subjects
- Adult, Analysis of Variance, Female, Humans, Male, Photic Stimulation, Reaction Time physiology, Young Adult, Dominance, Ocular physiology, Eye Movements physiology, Visual Perception physiology
- Abstract
Unlike handedness, sighting eye dominance, defined as the eye unconsciously chosen when performing monocular tasks, is very rarely considered in studies investigating cerebral asymmetries. We previously showed that sighting eye dominance has an influence on visually triggered manual action with shorter reaction time (RT) when the stimulus appears in the contralateral visual hemifield with respect to the dominant eye (Chaumillon et al. 2014). We also suggested that eye dominance may be more or less pronounced depending on individuals and that this eye dominance strength could be evaluated through saccadic peak velocity analysis in binocular recordings (Vergilino-Perez et al. 2012). Based on these two previous studies, we further examine here whether the strength of the eye dominance can modulate the influence of this lateralization on manual reaction time. Results revealed that participants categorized as having a strong eye dominance, but not those categorized as having a weak eye dominance, exhibited the difference in RT between the two visual hemifields. This present study reinforces that the analysis of saccade peak velocity in binocular recordings provides an effective tool to better categorize the eye dominance. It also shows that the influence of eye dominance in visuo-motor tasks depends on its strength. Our study also highlights the importance of considering the strength of eye dominance in future studies dealing with brain lateralization., (Copyright © 2017 Elsevier Ltd. All rights reserved.)
- Published
- 2017
- Full Text
- View/download PDF
21. High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
- Author
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Collet M, Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A, Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, and Rötig A
- Subjects
- Acyl-CoA Dehydrogenases metabolism, Cardiomegaly pathology, Cells, Cultured, Child, Child, Preschool, Electron Transport Complex I genetics, Female, Frameshift Mutation, Humans, Infant, Male, Mitochondrial Diseases pathology, Mutation, Missense, Syndrome, Acyl-CoA Dehydrogenases genetics, Cardiomegaly genetics, Electron Transport Complex I deficiency, Mitochondrial Diseases genetics, Mutation Rate
- Abstract
Acyl-CoA dehydrogenase family, member 9 (ACAD9) mutation is a frequent, usually fatal cause of early-onset cardiac hypertrophy and mitochondrial respiratory chain complex I deficiency in early childhood. We retrospectively studied a series of 20 unrelated children with cardiac hypertrophy and isolated complex I deficiency and identified compound heterozygosity for missense, splice site or frame shift ACAD9 variants in 8/20 patients (40%). Age at onset ranged from neonatal period to 9 years and 5/8 died in infancy. Heart transplantation was possible in 3/8. Two of them survived and one additional patient improved spontaneously. Importantly, the surviving patients later developed delayed-onset neurologic or muscular symptoms, namely cognitive impairment, seizures, muscle weakness and exercise intolerance. Other organ involvement included proximal tubulopathy, renal failure, secondary ovarian failure and optic atrophy. We conclude that ACAD9 mutation is the most frequent cause of cardiac hypertrophy and isolated complex I deficiency. Heart transplantation in children surviving neonatal period should be considered with caution, as delayed-onset muscle and brain involvement of various severity may occur, even if absent prior to transplantation.
- Published
- 2016
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22. Saccadic Adaptation in 10-41 Month-Old Children.
- Author
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Lemoine-Lardennois C, Alahyane N, Tailhefer C, Collins T, Fagard J, and Doré-Mazars K
- Abstract
When saccade amplitude becomes systematically inaccurate, adaptation mechanisms gradually decrease or increase it until accurate saccade targeting is recovered. Adaptive shortening and adaptive lengthening of saccade amplitude rely on separate mechanisms in adults. When these adaptation mechanisms emerge during development is poorly known except that adaptive shortening processes are functional in children above 8 years of age. Yet, saccades in infants are consistently inaccurate (hypometric) as if adaptation mechanisms were not fully functional in early childhood. Here, we tested reactive saccade adaptation in 10-41 month-old children compared to a group of 20-30 year-old adults. A visual target representing a cartoon character appeared at successive and unpredictable locations 10° apart on a computer screen. During the eye movement toward the target, it systematically stepped in the direction opposite to the saccade to induce an adaptive shortening of saccade amplitude (Experiment 1). In Experiment 2, the target stepped in the same direction as the ongoing saccade to induce an adaptive lengthening of saccade amplitude. In both backward and forward adaptation experiments, saccade adaptation was compared to a control condition where there was no intrasaccadic target step. Analysis of baseline performance revealed both longer saccade reaction times and hypometric saccades in children compared to adults. In both experiments, children on average showed gradual changes in saccade amplitude consistent with the systematic intrasaccadic target steps. Moreover, the amount of amplitude change was similar between children and adults for both backward and forward adaptation. Finally, adaptation abilities in our child group were not related to age. Overall the results suggest that the neural mechanisms underlying reactive saccade adaptation are in place early during development.
- Published
- 2016
- Full Text
- View/download PDF
23. How Eye Dominance Strength Modulates the Influence of a Distractor on Saccade Accuracy.
- Author
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Tagu J, Doré-Mazars K, Lemoine-Lardennois C, and Vergilino-Perez D
- Subjects
- Female, Fixation, Ocular physiology, Humans, Male, Photic Stimulation, Young Adult, Dominance, Ocular physiology, Saccades physiology, Visual Cortex physiology, Visual Perception
- Abstract
Purpose: Neuroimaging studies have shown that the dominant eye is linked preferentially to the ipsilateral primary visual cortex. However, its role in perception still is misunderstood. We examined the influence of eye dominance and eye dominance strength on saccadic parameters, contrasting stimulations presented in the two hemifields., Methods: Participants with contrasted eye dominance (left or right) and eye dominance strength (strong or weak) were asked to make a saccade toward a target displayed at 5° or 7° left or right of a fixation cross. In some trials, a distractor at 3° of eccentricity also was displayed either in the same hemifield as the target (to induce a global effect on saccade amplitude) or in the opposite hemifield (to induce a remote distractor effect on saccade latency)., Results: Eye dominance did influence saccade amplitude as participants with strong eye dominance showed more accurate saccades toward the target (weaker global effect) in the hemifield contralateral to the dominant eye than in the ipsilateral one. Such asymmetry was not found in participants with weak eye dominance or when a remote distractor was used., Conclusions: We show that eye dominance strength influences saccade target selection. We discuss several arguments supporting the view that such advantage may be linked to the relationship between the dominant eye and ipsilateral hemisphere. French Abstract.
- Published
- 2016
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24. Development and learning of saccadic eye movements in 7- to 42-month-old children.
- Author
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Alahyane N, Lemoine-Lardennois C, Tailhefer C, Collins T, Fagard J, and Doré-Mazars K
- Subjects
- Adult, Child, Preschool, Female, Humans, Infant, Male, Orientation, Reaction Time physiology, Young Adult, Child Development physiology, Eye growth & development, Learning, Saccades physiology
- Abstract
From birth, infants move their eyes to explore their environment, interact with it, and progressively develop a multitude of motor and cognitive abilities. The characteristics and development of oculomotor control in early childhood remain poorly understood today. Here, we examined reaction time and amplitude of saccadic eye movements in 93 7- to 42-month-old children while they oriented toward visual animated cartoon characters appearing at unpredictable locations on a computer screen over 140 trials. Results revealed that saccade performance is immature in children compared to a group of adults: Saccade reaction times were longer, and saccade amplitude relative to target location (10° eccentricity) was shorter. Results also indicated that performance is flexible in children. Although saccade reaction time decreased as age increased, suggesting developmental improvements in saccade control, saccade amplitude gradually improved over trials. Moreover, similar to adults, children were able to modify saccade amplitude based on the visual error made in the previous trial. This second set of results suggests that short visual experience and/or rapid sensorimotor learning are functional in children and can also affect saccade performance.
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- 2016
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25. Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.
- Author
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Lagoutte-Renosi J, Ségalas-Milazzo I, Crahes M, Renosi F, Menu-Bouaouiche L, Torre S, Lardennois C, Rio M, Marret S, Brasse-Lagnel C, Laquerrière A, and Bekri S
- Abstract
ACAD9 (acyl-CoA dehydrogenase 9) is an essential factor for the mitochondrial respiratory chain complex I assembly. ACAD9, a member of acyl-CoA dehydrogenase family, has high homology with VLCAD (very long-chain acyl-CoA dehydrogenase) and harbors a homodimer structure. Recently, patients with ACAD9 deficiency have been described with a wide clinical spectrum ranging from severe lethal form to moderate form with exercise intolerance.We report here a prenatal presentation with intrauterine growth retardation and cardiomegaly, with a fatal outcome shortly after birth. Compound heterozygous mutations, a splice-site mutation - c.1030-1G>T and a missense mutation - c.1249C>T; p.Arg417Cys, were identified in the ACAD9 gene. Their effect on protein structure and expression level was investigated. Protein modeling suggested a functional effect of the c.1030-1G>T mutation generating a non-degraded truncated protein and the p.Arg417Cys, creating an aberrant dimer. Our results underscore the crucial role of ACAD9 protein for cardiac function.
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- 2015
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26. [Breastfeeding and Cytomegalovirus infection in preterm infants. How to reduce the risks?].
- Author
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Radi S, Janvresse C, Lardennois C, Michel C, Brossard V, and Marret S
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- Cytomegalovirus Infections prevention & control, Female, Humans, Infant, Newborn, Infant, Premature, Diseases prevention & control, Risk Factors, Breast Feeding adverse effects, Cytomegalovirus Infections transmission, Infant, Premature, Diseases etiology, Infectious Disease Transmission, Vertical
- Abstract
In France, screening for cytomegalovirus infection (CMV) during pregnancy is not recommended in routine. The transmission of CMV through breastmilk from mothers to preterm infants is frequent (15-20%). The frequency of neuro-sensorial handicap related to congenital CMV infection in very preterm infants is not well documented. We report the case of a female infant born at 30 weeks of gestation. At 15 days, she developed cholestatic jaundice. Urine cultures were positive for CMV. Diagnostic procedure showed no other cause for jaundice. At 40 days, the infant presented with hepato-splenomegaly, purpura and abnormal skin color related to a symptomatic, secondary CMV infection, probably transmitted through breastmilk. Ganciclovir was begun for 21 days. At 12 months, she presents with normal development. This observation raises questions about breastfeeding in very preterm infants. Unexplained prematurity could reflect recent infection or reactivation in the mother. Thus, because of the well-known risks of prematurity on one hand, and CMV infection on the other, we suggest that detection of CMV seropositive mothers should be considered before allowing breastfeeding. If the mother has serologic evidence of recent infection or reactivation, freezing breastmilk at -20 degrees C for 3 days may be an option in order to reduce virolactia, especially during early lactation. This may reduce the risk of postnatal vertical virus transmission with minimal logistical difficulties and without interrupting breastfeeding.
- Published
- 2007
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27. [The nutrition of the newborn en neonatal medicine].
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Fie L, Legourd G, Lardennois C, Radi-Bencteux S, and Trestard L
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- Humans, Infant, Newborn, Infant Nutritional Physiological Phenomena, Neonatology
- Published
- 2005
28. Fetal and neonatal cerebral infarcts.
- Author
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Marret S, Lardennois C, Mercier A, Radi S, Michel C, Vanhulle C, Charollais A, and Gressens P
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- Animals, Brain growth & development, Cerebral Infarction etiology, Cerebral Infarction pathology, Cerebral Infarction physiopathology, Electroencephalography, Female, Humans, Infant, Newborn, Magnetic Resonance Imaging, Pregnancy, Prognosis, Seizures, Cerebral Infarction diagnosis, Fetal Diseases diagnosis
- Abstract
Focal arterial infarction in the full-term newborn is an important cause of acquired cerebral lesions in the perinatal period. Clinical motor seizures, most often unifocal, are the nearly constant disclosing symptom confirmed by focal EEG abnormalities. A multifactorial physiopathology is usual, including genetic and perinatal environmental factors. In the past decade, various acquired or genetic thrombophilias have been discussed as risk factors. For several of the involved mechanisms, the excitotoxic cascade could represent a common final pathway leading to neuronal cell death. Early magnetic resonance imaging studies and EEG help to identify the newborns with strokes who are likely to develop hemiplegia and disabilities at school. Protection of the human fetal brain remains difficult, since the triggering factor initiating the excitotoxic cascade is rarely observed. Treatment of seizures is nevertheless necessary, because it seems that they accelerate anoxia-induced neuronal death in animal models of focal hypoxic ischemia., (Copyright 2001 S. Karger AG, Basel)
- Published
- 2001
- Full Text
- View/download PDF
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