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Drug induced stuttering: pharmacovigilance data ; Drug induced stuttering: pharmacovigilance data.
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In: ISSN: 1474-0338 ; EISSN: 1744-764X ; Expert Opinion on Drug Safety ; https://hal.archives-ouvertes.fr/hal-03474488 ; Expert Opinion on Drug Safety, Informa Healthcare, 2021, 20 (3), pp.373-378. ⟨10.1080/14740338.2021.1867101⟩ (2021)
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Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome
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In: ISSN: 0002-953X ; EISSN: 1535-7228 ; American Journal of Psychiatry ; https://hal-pasteur.archives-ouvertes.fr/pasteur-03325371 ; American Journal of Psychiatry, American Psychiatric Publishing, 2021, 178 (1), pp.87-98. ⟨10.1176/appi.ajp.2020.19080834⟩ (2021)
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Long-term persistence of monotypic dengue transmission in small size isolated populations, French Polynesia, 1978-2014
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In: ISSN: 1935-2727 ; EISSN: 1935-2735 ; PLoS Neglected Tropical Diseases ; https://hal.archives-ouvertes.fr/hal-02747286 ; PLoS Neglected Tropical Diseases, Public Library of Science, 2020, 14 (3), pp.e0008110. ⟨10.1371/journal.pntd.0008110⟩ (2020)
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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
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Roux-Levy, Pierre-Henri; Bournez, Marie; Masurel, Alice; Jean, Nolwenn; Chancenotte, Sophie; Bordes, Mathieu; Debomy, Frédérique; Minot, Delphine; Schmitt, Emilie; Vinault, Sandrine; Gautier, Elodie; Lacombe, Didier; Odent, Sylvie; Mikaty, Myriam; Manouvrier, Sylvie; Ghoumid, Jamal; Geneviève, David; Lehman, Natacha; Philip, Nicole; Edery, Patrick; Cornaton, Jenny; Gallard, Jennifer; Héron, Delphine; Rastel, Coralie; Huet, Frédéric; Thauvin-Robinet, Christel; Verloes, Alain; Binquet, Christine; Tauber, Maïté; Lejeune, Catherine; Faivre, Laurence
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In: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.umontpellier.fr/hal-03338019 ; European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩ (2020)
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Abstract:
International audience ; Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals affected by PWS. The aim of this study was to describe the rehabilitation, medical care, educational and social support provided to school-aged French PWS patients with varying neuropsychological profiles. Data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Nineteen PWS subjects with a mean age of 9.2 years were included. The mean full-scale intellectual quotient (IQ) was 58 (Wechsler scale). There were frequent dissociations between verbal and performance IQ that were not associated with a specific profile. We also observed lower autonomy and communication scores (5.3 years and 5.9 years equivalent, respectively, Vineland scale), the absence of hyperactivity (Conners scale), and the presence of behavioural abnormalities (CBCL scale). Multidisciplinary medical supervision was generally coordinated by the paediatric endocrinologist and did not always include follow-up with all of the recommended specialists, in particular with a paediatric psychiatrist. Analysis of multidisciplinary rehabilitation conducted in public and private-sector establishment revealed failings in psychological support, occupational therapy and dietary follow-up. Regarding education, most children younger than 10 years were in normal schools, while older individuals were often cared for in medico-social institutions. In conclusion, children and adolescents with PWS generally received appropriate care. Though there have been considerable improvements in the management of children with PWS, reference centres should continue reinforcing the coordination of multidisciplinary supervision.
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Keyword:
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; Intellectual disability; MESH: Adolescent; MESH: Child; MESH: Cognition; MESH: Education; MESH: Female; MESH: France; MESH: Hormone Replacement Therapy; MESH: Humans; MESH: Male; MESH: Neurological Rehabilitation; MESH: Prader-Willi Syndrome; MESH: Social Support; MESH: Young Adult; Patient care management; Prader-Willi syndrome; Preschool; Social support; Special
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URL: https://hal.umontpellier.fr/hal-03338019
https://doi.org/10.1016/j.ejmg.2020.104064
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Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
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In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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| 6 |
Vaccination coverage in the context of the emerging Yellow Fever threat in French Guiana
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In: ISSN: 1935-2727 ; EISSN: 1935-2735 ; PLoS Neglected Tropical Diseases ; https://hal-pasteur.archives-ouvertes.fr/pasteur-02935032 ; PLoS Neglected Tropical Diseases, Public Library of Science, 2019, 13 (8), pp.e0007661. ⟨10.1371/journal.pntd.0007661⟩ (2019)
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| 7 |
Mycobacterium ulcerans infection (Buruli ulcer) in French Guiana, South America, 1969–2013: an epidemiological study
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In: ISSN: 2542-5196 ; EISSN: 2542-5196 ; Lancet Planetary Health ; https://www.hal.inserm.fr/inserm-01545603 ; Lancet Planetary Health , Elsevier, 2017, 1 (2), pp.65-73. ⟨10.1016/S2542-5196(17)30009-8⟩ (2017)
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| 8 |
Factors related to the relative survival of patients with diffuse large B-cell lymphoma in a population-based study in France: does socio-economic status have a role?
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In: ISSN: 0390-6078 ; EISSN: 1592-8721 ; Haematologica ; https://hal.archives-ouvertes.fr/hal-01559872 ; Haematologica, Ferrata Storti Foundation, 2017, 102 (3), pp.584-592. ⟨10.3324/haematol.2016.152918⟩ ; http://www.haematologica.org/content/102/3/584.long (2017)
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| 9 |
Household transmission of Neisseria meningitidis in the African meningitis belt: a longitudinal cohort study
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In: ISSN: 2214-109X ; The Lancet global health ; https://hal-riip.archives-ouvertes.fr/pasteur-03238489 ; The Lancet global health, Elsevier, 2016, 4 (12), pp.e989-e995. ⟨10.1016/S2214-109X(16)30244-3⟩ (2016)
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| 10 |
Enhancing the cross-cultural adaptation and validation process: linguistic and psychometric testing of the Brazilian–Portuguese version of a self-report measure for dry eye
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In: ISSN: 0895-4356 ; Journal of Clinical Epidemiology ; https://hal.univ-lorraine.fr/hal-01812467 ; Journal of Clinical Epidemiology, Elsevier, 2015, 68 (4), pp.370 - 378. ⟨10.1016/j.jclinepi.2014.07.009⟩ (2015)
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| 11 |
Identification of Large Families in Early Repolarization Syndrome.
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In: ISSN: 0735-1097 ; Journal of the American College of Cardiology ; https://hal.archives-ouvertes.fr/hal-00879642 ; Journal of the American College of Cardiology, Elsevier, 2013, 61 (2), pp.164-72. ⟨10.1016/j.jacc.2012.09.040⟩ (2013)
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| 12 |
Lexical references to sensory modalities in verbal descriptions of people and objects by congenitally blind, late blind and sighted adults.
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In: ISSN: 1932-6203 ; EISSN: 1932-6203 ; PLoS ONE ; https://hal.archives-ouvertes.fr/hal-00965194 ; PLoS ONE, Public Library of Science, 2012, 7 (8), pp.e44020. ⟨10.1371/journal.pone.0044020⟩ (2012)
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| 13 |
Nonhomogeneous transfer reveals specificity in speech motor learning
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In: ISSN: 0022-3077 ; EISSN: 1522-1598 ; Journal of Neurophysiology ; https://hal.archives-ouvertes.fr/hal-00743786 ; Journal of Neurophysiology, American Physiological Society, 2012, 107 (6), pp.1711-7. ⟨10.1152/jn.00773.2011⟩ (2012)
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| 14 |
Grip force reveals the context sensitivity of language-induced motor activity during "action words" processing: evidence from sentential negation.
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In: ISSN: 1932-6203 ; EISSN: 1932-6203 ; PLoS ONE ; https://hal.archives-ouvertes.fr/hal-00875165 ; PLoS ONE, Public Library of Science, 2012, 7 (12), pp.e50287. ⟨10.1371/journal.pone.0050287⟩ (2012)
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| 15 |
The visual attention span deficit in dyslexia is visual and not verbal.
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In: ISSN: 0010-9452 ; Cortex ; https://hal.archives-ouvertes.fr/hal-00965201 ; Cortex, Elsevier, 2012, 48 (6), pp.768-73. ⟨10.1016/j.cortex.2011.09.003⟩ (2012)
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| 16 |
Impaired letter-string processing in developmental dyslexia: what visual-to-phonology code mapping disorder?
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In: ISSN: 1076-9242 ; EISSN: 1099-0909 ; Dyslexia ; https://hal.archives-ouvertes.fr/hal-00965212 ; Dyslexia, Wiley, 2012, 18 (2), pp.77-93. ⟨10.1002/dys.1437⟩ (2012)
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| 17 |
Impact of immigration on the molecular epidemiology of tuberculosis in Rhode Island.
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In: ISSN: 0095-1137 ; Journal of Clinical Microbiology ; https://hal-riip.archives-ouvertes.fr/pasteur-00691765 ; Journal of Clinical Microbiology, American Society for Microbiology, 2011, 49 (3), pp.834-44. ⟨10.1128/JCM.01952-10⟩ (2011)
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| 18 |
[Parapneumonic pleural effusion incidence in a French region before and during the antipneumococcal vaccine era].
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In: ISSN: 0929-693X ; EISSN: 1769-664X ; Archives de Pédiatrie ; https://hal-unilim.archives-ouvertes.fr/hal-00739633 ; Archives de Pédiatrie, Elsevier, 2011, 18 (8), pp.846-9. ⟨10.1016/j.arcped.2011.05.010⟩ (2011)
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Correlation between olfactory bulb volume and olfactory function in children and adolescents.
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In: ISSN: 0014-4819 ; EISSN: 1432-1106 ; Experimental Brain Research ; https://hal.archives-ouvertes.fr/hal-00824731 ; Experimental Brain Research, Springer Verlag, 2011, 214 (2), pp.285-91. ⟨10.1007/s00221-011-2832-7⟩ (2011)
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Parental practices perceived by children using a French version of the Kids' Child Feeding Questionnaire.
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In: ISSN: 0195-6663 ; EISSN: 1095-8304 ; Appetite ; https://hal.archives-ouvertes.fr/hal-00824659 ; Appetite, Elsevier, 2011, 57 (1), pp.161-6. ⟨10.1016/j.appet.2011.04.014⟩ (2011)
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