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A systematic review and meta-analysis of the prognosis of language outcomes for individuals with autism spectrum disorder ...
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22 |
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion
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Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: terminology
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25 |
Who to Refer for Speech Therapy at 4 Years of Age Versus Who to "Watch and Wait"?
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26 |
Parent-reported patterns of loss and gain in communication in 1- to 2-year-old children are not unique to autism spectrum disorder
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27 |
Atypical Callosal Morphology in Children with Speech Sound Disorder
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28 |
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia
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Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology
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CATALISE: a multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children
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A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2
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Language outcomes of children with cerebral palsy aged 5 years and 6 years: a population-based study
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33 |
CATALISE : a multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children
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34 |
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2
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In: Prof. Kanwisher (2015)
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Abstract:
Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.
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URL: http://hdl.handle.net/1721.1/113018
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35 |
Speech sound disorder at 4 years: prevalence, comorbidities, and predictors in a community cohort of children
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40 |
Neural Correlates of Developmental Speech and Language Disorders: Evidence from Neuroimaging
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