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AAC Services for Emergent Bilinguals: Perspectives, Practices, and Confidence of Speech-Language Pathologists
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In: All Graduate Plan B and other Reports (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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Cospain, Auriane; Schaefer, Elise; Faoucher, Marie; Dubourg, Christèle; Carré, Wilfrid; Bizaoui, Varoona; Assoumani, Jessica; Van Maldergem, Lionel; Piton, Amélie; Gérard, Bénédicte; Mau-Them, Frédéric Tran; Bruel, Ange-Line; Faivre, Laurence; Demurger, Florence; Pasquier, Laurent; Odent, Sylvie; Fradin, Mélanie; Lavillaureix, Alinoe
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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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Abstract:
International audience ; Skraban-Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during infancy, and dysmorphic features. Here, we report on six novel heterozygous de novo pathogenic variants in WDR26 in six probands. The patients’ phenotypes were consistent with original publication. One patient displayed marked hypotonia with an abnormal muscle biopsy; this finding warrants further investigation. Gait must be closely monitored, in order to highlight any musculoskeletal or neurological abnormalities and prompt further examinations. Speech therapy and alternative communication methods should be initiated early in the clinical follow-up, in order to improve language and oral eating and drinking.
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Keyword:
[SDV.GEN]Life Sciences [q-bio]/Genetics; [SDV]Life Sciences [q-bio]; hypotonia; intellectual disability; language development disorders; phenotype; Skraban-Deardorff syndrome; speech therapy; WDR26
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URL: https://doi.org/10.1111/cge.13933 https://hal.archives-ouvertes.fr/hal-03134882 https://hal.archives-ouvertes.fr/hal-03134882/document https://hal.archives-ouvertes.fr/hal-03134882/file/Cospain%20et%20al-Skraban-Deardorff%20syndrome.pdf
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The educational needs of school-aged students with Developmental Language Disorder: The perspectives of key stakeholders ...
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Разработка и апробация скрининга речевого развития старших дошкольников ... : Development and Testing of Speech Progress Screening for Older Preschoolers ...
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Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
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Logopedia y derecho a la comunicación ; Speech and Language Pathology and Communication ́s rights
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Teira Serrano, Celia. - : Universidad de Castilla-La Mancha: Colegio Oficial de Logopedas de Castilla-La Mancha, 2021. : Universidad Complutense de Madrid: Facultad de Psicología, 2021
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Faciliter les échanges avec les personnes vivant avec un trouble de la communication : une formation pour les chauffeur·e·s de transport adapté
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Environmental factors and their associations with speech-language-hearing diagnostic hypotheses in children and adolescents
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In: Revista CEFAC, Vol 23, Iss 5 (2021) (2021)
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Vignetteninterview zur Erfassung des Sprachförderwissens pädagogischer Fachkräfte (VSW)
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In: Mackowiak, Katja [Hrsg.]; Beckerle, Christine [Hrsg.]; Gentrup, Sarah [Hrsg.]; Titz, Cora [Hrsg.]: Forschungsinstrumente im Kontext institutioneller (schrift-)sprachlicher Bildung. Bad Heilbrunn : Verlag Julius Klinkhardt 2020, S. 13-32 (2020)
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Working Memory Processing Times in Children with Fetal Alcohol Spectrum Disorders
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We Need to Talk: A Study Measuring the Impact of an Innovative AAC Intervention on Conversation Management Skills in Young Adults with Autism Spectrum Disorders
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We Need to Talk: A Study Measuring the Impact of an Innovative AAC Intervention on Conversation Management Skills in Young Adults with Autism Spectrum Disorders
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In: ETD Collection for Fordham University (2020)
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Perceptions of Guilt of Individuals with a Visible Communication Disorder versus an Invisible Communication Disorder
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In: Honors Scholar Theses (2020)
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EXPERIENCES OF ADOLESCENTS IN THE GENERAL EDUCATION SETTING INTERACTING WITH PEERS WITH INTELLECTUAL DISABILITY
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In: Theses and Dissertations--Rehabilitation Sciences (2020)
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School-Based Speech-Language Pathologist Collaborative Practice: A Literature Review
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In: Undergraduate Theses, Professional Papers, and Capstone Artifacts (2020)
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Examining the Use of a Gamified Transcription Task to Support Perceptual Learning of Dysarthric Speech
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In: All Graduate Plan B and other Reports (2020)
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Untitled (Speech Poem #2)
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In: Refract: An Open Access Visual Studies Journal, vol 2, iss 1 (2019)
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
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In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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