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1
Grammatical Judgment and Production in Male Participants with Idiopathic Autism Spectrum Disorder
In: Clin Linguist Phon (2020)
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2
An investigation into maternal use of telegraphic input to children with Down syndrome
In: J Child Lang (2019)
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3
The Use of Demonstratives and Personal Pronouns in Fragile X Syndrome and Autism Spectrum Disorder
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4
Investigating the Receptive-Expressive Vocabulary Profile in Children with Idiopathic ASD and Comorbid ASD and Fragile X Syndrome
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5
Automated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes
Abstract: Millions of people globally are at high risk for neurodegenerative disorders, infertility or having children with a disability as a result of the Fragile X (FX) premutation, a genetic abnormality in FMR1 that is underdiagnosed. Despite the high prevalence of the FX premutation and its effect on public health and family planning, most FX premutation carriers are unaware of their condition. Since genetic testing for the premutation is resource intensive, it is not practical to screen individuals for FX premutation status using genetic testing. In a novel approach to phenotyping, we have utilized audio recordings and cognitive profiling assessed via self-administered questionnaires on 200 females. Machine-learning methods were developed to discriminate FX premutation carriers from mothers of children with autism spectrum disorders, the comparison group. By using a random forest classifier, FX premutation carriers could be identified in an automated fashion with high precision and recall (0.81 F1 score). Linguistic and cognitive phenotypes that were highly associated with FX premutation carriers were high language dysfluency, poor ability to organize material, and low self-monitoring. Our framework sets the foundation for computational phenotyping strategies to pre-screen large populations for this genetic variant with nominal costs.
Keyword: Article
URL: http://www.ncbi.nlm.nih.gov/pubmed/28572606
https://doi.org/10.1038/s41598-017-02682-4
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454004/
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6
Parenting of children with Down syndrome compared to fragile X syndrome
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7
Discriminating Down Syndrome and Fragile X Syndrome based on language ability*
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8
Language Dysfluencies in Females with the FMR1 Premutation
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9
Language development in school-age females with fragile X syndrome
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10
Maternal Responsivity Predicts Language Development in Young Children With Fragile X Syndrome
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11
Interventions Aimed at Improving Child Language by Improving Maternal Responsivity
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