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Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
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In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022)
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Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report.
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In: Developmental neurorehabilitation, vol 25, iss 2 (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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Identifying preschool measures most predictive of language outcomes at 11 years in the Early Language in Victoria Study ...
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Examining the barriers to accessing and utilizing healthcare services for minority-language speakers with neurodevelopmental disorders: a scoping 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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| 7 |
Effects of CPAP on Language Recovery in Post-Stroke Aphasia: A Review of Recent Literature
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In: Brain Sciences; Volume 12; Issue 3; Pages: 379 (2022)
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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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| 9 |
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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| 10 |
The BioVisualSpeech corpus of words with sibilants for speech therapy games development
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| 11 |
L’acquisition des pronoms en L1. Le cas d’enfants à développement typique et d’enfants à développement atypique
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In: Corela, Vol 35 (2022) (2022)
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| 12 |
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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| 13 |
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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| 14 |
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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| 15 |
Speech Treatment Effects on Narrative Intelligibility in French-Speaking Children with Dysarthria.
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Construction of an automatic score for the evaluation of speech disorders among patients treated for a cancer of the oral cavity or the oropharynx: The Carcinologic Speech Severity Index
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In: ISSN: 1043-3074 ; EISSN: 1097-0347 ; Head and Neck ; https://hal-univ-tlse3.archives-ouvertes.fr/hal-03413678 ; Head and Neck, Wiley, In press, ⟨10.1002/hed.26903⟩ (2021)
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The Status of Dysphagia Clinics During the COVID-19 Pandemic.
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| 18 |
The Status of Dysphagia Clinics During the COVID-19 Pandemic.
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| 19 |
Arbitrary but predictive cues support attention to overlooked features
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| 20 |
Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report.
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