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Évaluation de la perception des sons de parole chez les populations pédiatriques : réflexion sur les épreuves existantes
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In: ISSN: 0298-6477 ; EISSN: 2117-7155 ; Glossa ; https://hal.archives-ouvertes.fr/hal-03646757 ; Glossa, UNADREO - Union NAtionale pour le Développement de la Recherche en Orthophonie, 2022, 132, pp.1-27 ; https://www.glossa.fr/index.php/glossa/article/view/1043 (2022)
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Potential of automatic speech processing technologies for early detection of oral language disorders: a meta-analytic review ...
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New perspectives, theory, method, and practice: Qualitative research and innovation in speech-language pathology
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In: Research outputs 2022 to 2026 (2022)
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An aphasia research agenda – a consensus statement from the collaboration of aphasia trialists
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In: Research outputs 2014 to 2021 (2022)
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The 'real-life' benefit of hearing preservation cochlear implantation in the paediatric population ...
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Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective
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In: Journal of Personalized Medicine; Volume 12; Issue 2; Pages: 313 (2022)
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Oral and Laryngeal Articulation Control of Voicing in Children with and without Speech Sound Disorders
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In: Children; Volume 9; Issue 5; Pages: 649 (2022)
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Participants’ Satisfaction with Functional Treatment Goals
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In: Honors College Theses (2022)
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Effect of alphabet board supplementation and stimulus presentation mode on intelligibility of dysarthric speech
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The BioVisualSpeech corpus of words with sibilants for speech therapy games development
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Speech Changes After Transcranial Direct Current Stimulation in Individuals Diagnosed With Parkinson's Disease
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In: Communication Disorders Faculty Publications (2022)
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The value of audio description for the therapy of speech-communicative disorders
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Zabrocka, Monika. - : Universidad de Castilla-La Mancha: Colegio Oficial de Logopedas de Castilla-La Mancha, 2022. : Universidad Complutense de Madrid: Facultad de Psicología, 2022
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Caregiver Experiences of Feeding Instruction for Infants Born with Cleft Lip and/or Palate
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In: Masters Theses & Specialist Projects (2022)
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Orofacial Motricity and Dysphagia: analysis of theses defended by Brazilian speech-language pathologists
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In: Revista CEFAC, Vol 24, Iss 1 (2022) (2022)
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Relationship between vocal pitch acuity and voice onset time in speakers with vocal hyperfunction
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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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Processing rhythm in speech and music: Shared mechanisms and implications for developmental speech and language disorders.
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In: ISSN: 0894-4105 ; Neuropsychology ; https://hal.archives-ouvertes.fr/hal-03384346 ; Neuropsychology, American Psychological Association, 2021, ⟨10.1037/neu0000766⟩ (2021)
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Reliability of perceptual measurement of Apraxia of Speech characteristics
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Speech Treatment Effects on Narrative Intelligibility in French-Speaking Children with Dysarthria.
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Effects of Speech Cues on Acoustics and Intelligibility of Korean-speaking Children with Dysarthria
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