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A Modeling-Guided Case Study of Disordered Speech in Minimally Verbal Children With Autism Spectrum Disorder
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In: Am J Speech Lang Pathol (2021)
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Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome
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In: Eur J Hum Genet (2020)
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Abstract:
Communication difficulties are a core feature of Phelan-McDermid syndrome (PMS). However, a specific speech and language phenotype has not been delineated, preventing prognostic counselling and development of targeted therapies. We examined speech, language, social and functional communication abilities in 21 individuals with PMS (with SHANK3 involvement), using standardised assessments. Mean age was 9.7 years (SD 4.1) and 57% were female. Deletion size ranged from 41 kb to 8.3 Mb. Nine participants (45%) were non-verbal. Four (19%) had greater verbal ability, speaking in at least 4–5 word sentences, but with speech sound errors. Standard scores for receptive and expressive language were low (typically >3 SD below the mean). Language age equivalency was 13–16 months on average (range 2–53 months). There was a significant association between deletion size and the ability to use phrases. Participants with smaller deletion sizes were more likely to be able to use phrases (odds ratio: 0.36, 95% CI: 0.14–0.95, p = 0.040). Adaptive behaviour (life skills) was low in all areas (>2 SD below mean). Scores in communication were markedly lower than for daily living (p = 0.008) and socialisation (p < 0.001). A common linguistic profile was characterised by severe impairment across receptive, expressive and social language domains. Yet data indicated greater communicative intent than appeared to be capitalised by current therapies. Early implementation of augmentative (e.g. computer-assisted) modes of communication, alongside promotion of oral language, is essential to harness this intent, accelerate language development and reduce frustration. Future trials should examine the added benefit of targeted speech motor interventions in those with greater verbal capacity.
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Keyword:
Article
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URL: http://www.ncbi.nlm.nih.gov/pubmed/33293697
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115660/
https://doi.org/10.1038/s41431-020-00761-1
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| 3 |
Factor Analysis of Signs of Childhood Apraxia of Speech
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In: J Commun Disord (2020)
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| 4 |
Appendix -Supplemental material for A systematic review and meta-analysis of the prognosis of language outcomes for individuals with autism spectrum disorder ...
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Appendix -Supplemental material for A systematic review and meta-analysis of the prognosis of language outcomes for individuals with autism spectrum disorder ...
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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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| 7 |
A systematic review and meta-analysis of the prognosis of language outcomes for individuals with autism spectrum disorder ...
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| 8 |
Appendix -Supplemental material for A systematic review and meta-analysis of the prognosis of language outcomes for individuals with autism spectrum disorder ...
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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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| 10 |
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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Language development in autism spectrum disorder: longitudinal comparison with a community cohort of children with language impairment and typical development
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