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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 8 of 8 1 Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion Mei, Cristina; Fedorenko, Evelina; Amor, David J.. - : Springer International Publishing, 2018 BASE Show details 2 Who to Refer for Speech Therapy at 4 Years of Age Versus Who to "Watch and Wait"? Morgan, Angela; Ttofari Eecen, Kyriaki; Pezic, Angela. - : Elsevier, 2017 BASE Show details 3 Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia Morgan, Angela T.; Haaften, Leenke van; van Hulst, Karen. - : Nature Publishing Group UK, 2017 BASE Show details 4 A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2 Fedorenko, Evelina; Morgan, Angela; Murray, Elizabeth. - : Nature Publishing Group, 2016 BASE Show details 5 Language outcomes of children with cerebral palsy aged 5 years and 6 years: a population-based study Mei, Cristina; Reddihough, Dinah; Reilly, Sheena. - : Wiley-Blackwell Publishing, 2016 BASE Show details 6 A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2 Fedorenko, Evelina; Morgan, Angela; Murray, Elizabeth; Mei, Cristina; Tager-Flusberg, Helen; Fisher, Simon E; Cardinaux, Anne; Kanwisher, Nancy In: Prof. Kanwisher (2015) 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. URL: http://hdl.handle.net/1721.1/113018 BASE Hide details 7 Motor speech impairment, activity, and participation in children with cerebral palsy Mei, Cristina; Reilly, Sheena; Reddihough, Dinah... In: International journal of speech language pathology. - Abingdon : Informa Healthcare 16 (2014) 4, 427-435 OLC Linguistik Show details 8 Speech and language abilities of children with cerebral palsy: a population-based study Mei, Cristina. - 2014 BASE Show details

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