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The Effect of Constant Time Delay and Sentence Frames on Correct Word Selection for Sentences Constructed Using Technology-Aided Instruction During a Story-Based Lesson
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In: Electronic Theses and Dissertations (2022)
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Skraban-Deardorff syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype
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In: ISSN: 0009-9163 ; EISSN: 1399-0004 ; Clinical Genetics ; https://hal.archives-ouvertes.fr/hal-03134882 ; Clinical Genetics, Wiley, 2021, 99 (5), pp.732-739. ⟨10.1111/cge.13933⟩ (2021)
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
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In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal-univ-rennes1.archives-ouvertes.fr/hal-03268683 ; American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (2), pp.346-356. ⟨10.1016/j.ajhg.2021.01.007⟩ (2021)
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Music Therapy for Children With Autistic Spectrum Disorder and/or Other Neurodevelopmental Disorders: A Systematic Review
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In: ISSN: 1664-0640 ; Frontiers in Psychiatry ; https://hal.sorbonne-universite.fr/hal-03213301 ; Frontiers in Psychiatry, Frontiers, 2021, 12, pp.643234. ⟨10.3389/fpsyt.2021.643234⟩ (2021)
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Rapid automatized naming skills of children with intellectual disability
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In: ISSN: 2405-8440 ; Heliyon ; https://hal.archives-ouvertes.fr/hal-03395923 ; Heliyon, Elsevier 2021, 7 (5), pp.e06944. ⟨10.1016/j.heliyon.2021.e06944⟩ (2021)
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The Cognitive and Linguistic Abilities of Bilinguals with Genetic Disorders: The Prader-Willi Syndrome Population ...
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LANGUAGE DEVELOPMENT OF CHILDEN WITH INTELLECTUAL DISABILITY: A REVIEW OF RESEARCH STUDIES IN THAILAND AND THE INTERNATIONAL ARENA ...
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Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
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A descriptive study on reading instruction provided to students with intellectual disability
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In: ISSN: 1744-6295 ; Journal of intellectual disabilities, Vol. 25 (2021) pp. 1-19 (2021)
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Infantilisation in care, community and cognitive disability
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The Cognitive and Linguistic Abilities of Bilinguals with Genetic Disorders: The Prader-Willi Syndrome Population
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Propuesta de Intervención Inclusiva para la mejora del Lenguaje en un alumno con Discapacidad Intelectual
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Interpretation of ambiguous pronouns in adults with intellectual disabilities
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In: Special Education and Communication Disorders Faculty Publications (2021)
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The inter-relationships between cerebral visual impairment, autism and intellectual disability
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In: ISSN: 1873-7528 ; Neuroscience & Biobehavioral Reviews ; https://hal.archives-ouvertes.fr/hal-03026222 ; Neuroscience & Biobehavioral Reviews, Oxford: Elsevier Ltd., 2020, 114, pp.201-210. ⟨10.1016/j.neubiorev.2020.04.008⟩ (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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Designing an IIR Research Apparatus with Users with Severe Intellectual Disability
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In: ACM SIGIR Conference on Human Information Interaction and Retrieval (CHIIR) ; https://hal-amu.archives-ouvertes.fr/hal-02470797 ; ACM SIGIR Conference on Human Information Interaction and Retrieval (CHIIR), Mar 2020, Vancouver, Canada. pp.412-416, ⟨10.1145/3343413.3378008⟩ (2020)
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Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors.
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In: Journal of neurodevelopmental disorders, vol 12, iss 1 (2020)
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Improving Reading Comprehension for Students With Intellectual Disability: The Effectiveness of the Main Idea and Self-Monitoring Strategy
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Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment
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In: Brain Sciences ; Volume 10 ; Issue 4 (2020)
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