7 results on '"Alyssa R. Rosen"'
Search Results
2. Neurologic and developmental considerations in children with medical complexity
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Winona D. Chua, Alyssa R. Rosen, and Mary E. Pipan
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medicine.medical_specialty ,Adolescent ,Primary Health Care ,business.industry ,Communication ,Psychological intervention ,MEDLINE ,Context (language use) ,General Medicine ,Primary care ,Subspecialty ,Mental health ,Mental Health ,Medical illness ,Pediatrics, Perinatology and Child Health ,Humans ,Medicine ,Family ,Pediatricians ,Medical diagnosis ,Child ,business ,Psychiatry - Abstract
Children with medical complexity are at increased risk of neurodevelopmental conditions. Signs or symptoms of neurodevelopmental conditions may be more apparent in the context of a medical illness or hospitalization. Thus, primary care, front-line subspecialty and hospital-based pediatricians are encouraged to be on the alert for these conditions from infancy through adolescence. Medical and mental health issues must be considered in the differential diagnoses when children with neurodevelopmental conditions present with a change or regression in their behavior. Management of maladaptive behaviors includes managing the underlying medical and mental health conditions that are contributing to the behavior, environmental supports, behavior therapy interventions, communication and other skills building support for the child, as well as judicious use of medication when necessary.
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- 2021
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3. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
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Darina Prchalova, Philippe Pm Campeau, Bénédicte Duban-Bedu, Jacques L. Michaud, Marije Koopmans, Arnold Munnich, Christel Depienne, Marilyn Tallot, Fadi F. Hamdan, Eveline Hagebeuk, Marie-Laure Moutard, Anna Kaminska, Petra Laššuthová, Kathryn G. Miller, Ange Line Bruel, Xilma Xr Ortiz-Gonzalez, Shoji Ichikawa, Ingo Helbig, Ethan Em Goldberg, Sarah Weckhuysen, Daphné Lehalle, Elena Gardella, Marie-Bertille Dehouck, Claude Besmond, Patrick Edery, Christine Ioos, Pauline Marzin, Christine Coubes, Julien Buratti, Rima Nabbout, Hubert Journel, Audrey Putoux, Giulia Barcia, Laurence Hubert, Claire Davidson, Berten Ceulemans, Ana Ag Cristancho, Fiona Cunningham, Chloé Quélin, Christèle Dubourg, Aoife Ac McMahon, Thomas Smol, Delphine Héron, Katalin Štěrbová, Katherine Kl Helbig, Boris Keren, Ivan Shelihan, Damien Lederer, Rikke Rs Møller, Emílie Vyhnálková, Alyssa R. Rosen, Natasha Shur, Julie Gauthier, Dragan Marjanovic, Berge Ba Minassian, Marleen Simon, Ledia Brunga, Guillaume Smits, Sandra Janssens, Catheline Vilain, Gaetan Lesca, Caroline Nava, Jasper J. van der Smagt, Laurent Villard, Cyril Mignot, Samuel P. Yang, Joelle Roume, Julie Soblet, JM Pinard, Stéphanie Gobin-Limballe, Bobby P. C. Koeleman, Miroslava Hancarova, Elizabeth J. Donner, Nienke Ne Verbeek, Marie-Line Jacquemont, Marjan J. A. van Kempen, Julia Metreau, David Geneviève, Joannella Morales, Peter M. van Hasselt, Christine Barnerias, Caroline Lacoste, Claire Bar, Thierry Bienvenu, Mathieu Milh, Elsa Rossignol, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), European Bioinformatics Institute [Hinxton] (EMBL-EBI), EMBL Heidelberg, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Université Paris Descartes - Paris 5 (UPD5), CHU Sainte Justine [Montréal], Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), Hospices Civils de Lyon (HCL), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Service de neurologie pédiatrique [CHU Necker], Institut de psychiatrie et neurosciences (U894 / UMS 1266), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Hôpital Cochin [AP-HP], Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, The Hospital for sick children [Toronto] (SickKids), University of Antwerp (UA), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Children’s Hospital of Philadelphia (CHOP ), Hôpital Saint-Vincent de Paul, Institut de Génétique et Développement de Rennes (IGDR), 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 ), University of Southern Denmark (SDU), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), University Hospital Motol [Prague], Hôpital Raymond Poincaré [AP-HP], Center for Medical Genetics [Ghent], Ghent University Hospital, University Medical Center [Utrecht], Institut de Pathologie et Génétique [Gosselies] (I.P.G.), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, CHI Créteil, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), CHU Trousseau [APHP], Université de Lyon, CHI Poissy-Saint-Germain, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université libre de Bruxelles (ULB), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Antwerp University Hospital [Edegem] (UZA), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire [Rennes], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en neurosciences de Lyon (CRNL), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), and Centre de Psychiatrie et Neurosciences (U894)
- Subjects
0301 basic medicine ,Male ,Génétique clinique ,[SDV]Life Sciences [q-bio] ,Medizin ,Physiology ,030105 genetics & heredity ,Seizures/epidemiology ,Epilepsy ,Brain Diseases/epidemiology ,X-linked inheritance ,Intellectual disability ,Guanine Nucleotide Exchange Factors ,Protein Isoforms ,Missense mutation ,Genetics(clinical) ,10. No inequality ,Non-U.S. Gov't ,Genetics (clinical) ,X-linked recessive inheritance ,ComputingMilieux_MISCELLANEOUS ,Brain Diseases ,Sex Characteristics ,Research Support, Non-U.S. Gov't ,Brain ,Sciences bio-médicales et agricoles ,3. Good health ,Pedigree ,Phenotype ,intellectual disability ,Female ,Brain/growth & development ,Sex characteristics ,Génétique moléculaire ,Guanine Nucleotide Exchange Factors/genetics ,Encephalopathy ,Research Support ,X-inactivation ,Article ,03 medical and health sciences ,Seizures ,Protein Isoforms/genetics ,medicine ,Journal Article ,IQSEC2 ,Humans ,Intellectual Disability/epidemiology ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,business.industry ,Infant, Newborn ,isoforms ,Correction ,Infant ,medicine.disease ,Newborn ,Human genetics ,030104 developmental biology ,Mutation ,epilepsy ,Human medicine ,business ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences., SCOPUS: ar.j, info:eu-repo/semantics/published
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- 2019
- Full Text
- View/download PDF
4. Correction: IQSEC2-related encephalopathy in males and females:a comparative study including 37 novel patients
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Petra Laššuthová, Kathryn G. Miller, Jacques L. Michaud, Sarah Weckhuysen, Claude Besmond, Stéphanie Gobin-Limballe, Emílie Vyhnálková, Aoife McMahon, Peter M. van Hasselt, Christine Barnerias, Laurence Hubert, Joannella Morales, Daphné Lehalle, Caroline Lacoste, Rima Nabbout, Hubert Journel, Jasper J. van der Smagt, Patrick Edery, Marjan J. A. van Kempen, Samuel P. Yang, Fiona Cunningham, Thomas Smol, Delphine Héron, Darina Prchalova, David Geneviève, Thierry Bienvenu, Mathieu Milh, Bénédicte Duban-Bedu, Ledia Brunga, Marleen Simon, Ana G. Cristancho, Ethan M. Goldberg, Sandra Janssens, Christel Depienne, Miroslava Hancarova, Shoji Ichikawa, Berge A. Minassian, Ivan Shelihan, Elsa Rossignol, Ange Line Bruel, Elena Gardella, Marije Koopmans, Arnold Munnich, Natasha Shur, Pauline Marzin, Ingo Helbig, Julien Buratti, Alyssa R. Rosen, Giulia Barcia, Claire Davidson, Berten Ceulemans, Marilyn Tallot, Marie Line Jacquemont, Guillaume Smits, Catheline Vilain, Katherine L. Helbig, Gaetan Lesca, Rikke S. Møller, Claire Bar, Marie Laure Moutard, Caroline Nava, Marie Bertille Dehouck, Julie Soblet, Philippe M. Campeau, Cyril Mignot, Laurent Villard, Joelle Roume, Julia Metreau, Dragan Marjanovic, Damien Lederer, Audrey Putoux, Chloé Quélin, Fadi F. Hamdan, Boris Keren, Anna Kaminska, Xilma R. Ortiz-Gonzalez, Christine Ioos, Christine Coubes, Julie Gauthier, Nienke E. Verbeek, Bobby P. C. Koeleman, Eveline Hagebeuk, Jean Marc Pinard, Katalin Štěrbová, Christèle Dubourg, and Elizabeth J. Donner
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Pediatrics ,medicine.medical_specialty ,Text mining ,business.industry ,Published Erratum ,Encephalopathy ,Medizin ,MEDLINE ,Medicine ,business ,medicine.disease ,Genetics (clinical) - Abstract
This Article was originally published under Nature Research’s License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.
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- 2019
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5. Basal ganglia neural mechanisms of natural movement sequences
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J. Wayne Aldridge, Alyssa R. Rosen, and Kent C. Berridge
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Neurons ,Pharmacology ,Communication ,Physiology ,business.industry ,Movement (music) ,Movement ,Period (gene) ,Central nervous system ,Motor control ,Body movement ,Context (language use) ,General Medicine ,Striatum ,Motor Activity ,Biology ,Basal Ganglia ,Rats ,medicine.anatomical_structure ,Physiology (medical) ,Basal ganglia ,medicine ,Animals ,business ,Neuroscience - Abstract
Natural rodent grooming and other instinctive behavior serves as a natural model of complex movement sequences. Rodent grooming has syntactic (rule-driven) sequences and more random movement patterns. Both incorporate the same movements—only the serial structure differs. Recordings of neural activity in the dorsolateral striatum and the substantia nigra pars reticulata indicate preferential activation during syntactic sequences over more random sequences. Neurons that are responsive during syntactic grooming sequences are often unresponsive or have reverse activation profiles during kinematically similar movements that occur in flexible or random grooming sequences. Few neurons could be categorized as strictly movement related—instead they were activated only in the context of particular sequential patterns of movements. Particular sequential patterns included "syntactic chain" grooming sequences of paw, head, and body movements and also "warm-up" sequences, which consist of head and body/limb movements that precede locomotion after a period of quiet resting (Golani 1992). Activation during warm-up was less intense and less frequent than during grooming sequences, but both sequences activated neurons above baseline levels, and the same neurons sometimes responded to both sequences. The fact that striatal neurons code 2 natural sequences which are made up of different constituent movements suggests that the basal ganglia may have a generalized role in sequence control. The basal ganglia are modulated by the context of the sequence and may play an executive function in the complex natural patterns of sequenced behaviour.Key words: movement, basal ganglia, striatum, movement sequences, sensorimotor behaviour.
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- 2004
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6. Transcranial direct current stimulation in pediatric brain: a computational modeling study
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Preet Minhas, Marom Bikson, Sudha Kilaru Kessler, Alyssa R. Rosen, and Adam J. Woods
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Adult ,Cerebral Cortex ,Male ,Brain Mapping ,Transcranial direct-current stimulation ,Adolescent ,medicine.medical_treatment ,Finite Element Analysis ,Models, Neurological ,Stimulation ,Cognition ,Electric Stimulation Therapy ,Cognitive neuroscience ,Stimulus (physiology) ,Neurophysiology ,Brain mapping ,Article ,Brain stimulation ,medicine ,Humans ,Computer Simulation ,Female ,Psychology ,Child ,Neuroscience - Abstract
Transcranial direct current stimulation (tDCS) is a method of non-invasive brain stimulation which uses weak electric currents applied on the scalp to modulate activity of underlying brain tissue. In addition to being used as a tool for cognitive neuroscience investigations, tDCS has generated considerable interest for use as a therapeutic modality for neurologic disorders. Though the safety and tolerability of tDCS in adults is well-established, there is little information on the safety of tDCS in children. Because there are differences between children and adults in several key parameters (such as skull thickness and cerebrospinal fluid volume) which affect current flow through the brain, special consideration should be given to the stimulation parameters which are used in a pediatric study population. In this study we present cortical electrical field maps at different stimulation intensities and electrode configurations using a high-resolution-MRI derived finite element model of a typically developing, anatomically normal 12 year old child. The peak electrical fields for a given stimulus intensity in the adolescent brain were twice as high as in the adult brain for conventional tDCS and nearly four times as high for a 4X1 High-Definition tDCS electrode configuration. These data suggest that acceptable tDCS stimulation parameters may be different in children compared to adults, and that further modeling studies are needed to help guide decisions about applied current intensity.
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- 2013
7. Dosage considerations for transcranial direct current stimulation in children: a computational modeling study
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Alyssa R. Rosen, Adam J. Woods, Casey Gorman, Marom Bikson, Sudha Kilaru Kessler, and Preet Minhas
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medicine.medical_specialty ,medicine.medical_treatment ,Finite Element Analysis ,Models, Neurological ,lcsh:Medicine ,Electric Stimulation Therapy ,Stimulation ,Audiology ,03 medical and health sciences ,0302 clinical medicine ,Humans ,Medicine ,Functional electrical stimulation ,Computer Simulation ,Child ,lcsh:Science ,030304 developmental biology ,0303 health sciences ,Multidisciplinary ,medicine.diagnostic_test ,Transcranial direct-current stimulation ,business.industry ,lcsh:R ,Age Factors ,Brain ,Computational Biology ,Magnetic resonance imaging ,Neurophysiology ,Magnetic Resonance Imaging ,Intensity (physics) ,Electrotherapy ,lcsh:Q ,business ,030217 neurology & neurosurgery ,Research Article ,Dose selection - Abstract
Transcranial direct current stimulation (tDCS) is being widely investigated in adults as a therapeutic modality for brain disorders involving abnormal cortical excitability or disordered network activity. Interest is also growing in studying tDCS in children. Limited empirical studies in children suggest that tDCS is well tolerated and may have a similar safety profile as in adults. However, in electrotherapy as in pharmacotherapy, dose selection in children requires special attention, and simple extrapolation from adult studies may be inadequate. Critical aspects of dose adjustment include 1) differences in neurophysiology and disease, and 2) variation in brain electric fields for a specified dose due to gross anatomical differences between children and adults. In this study, we used high-resolution MRI derived finite element modeling simulations of two healthy children, ages 8 years and 12 years, and three healthy adults with varying head size to compare differences in electric field intensity and distribution. Multiple conventional and high-definition tDCS montages were tested. Our results suggest that on average, children will be exposed to higher peak electrical fields for a given applied current intensity than adults, but there is likely to be overlap between adults with smaller head size and children. In addition, exposure is montage specific. Variations in peak electrical fields were seen between the two pediatric models, despite comparable head size, suggesting that the relationship between neuroanatomic factors and bioavailable current dose is not trivial. In conclusion, caution is advised in using higher tDCS doses in children until 1) further modeling studies in a larger group shed light on the range of exposure possible by applied dose and age and 2) further studies correlate bioavailable dose estimates from modeling studies with empirically tested physiologic effects, such as modulation of motor evoked potentials after stimulation.
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- 2013
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