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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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Pragmatic Profiles of Adults with Fragile X Syndrome and Williams Syndrome
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In: Brain Sciences; Volume 12; Issue 3; Pages: 385 (2022)
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Abstract:
Linguistic phenotypes of individuals with Fragile X (FXS) and Williams (WS) syndromes exhibit various degrees of pragmatic impairment, involving difficulties in social communication and in adapting to conversational principles. The goal of the present study was to explore syndrome-specific pragmatic profiles of adults with FXS and WS based on the assessment of the observance of Gricean maxims of conversation. The participants were 12 Spanish-speaking adults (6 FXS/6 WS), without a diagnosis of ASD, whose extensive naturalistic conversations (71,859 words) were transcribed and coded with the CHILDES/TALKBANK tools and the PREP-CORP pragmatic protocol. Violations of the maxims of conversation were analyzed, and indexes of cooperation and conversational response were obtained. Both groups showed reduced verbal production and repetitive dysfluencies; prominent features in the FXS profile were higher proportion of non-contingent language, perseverations of topic and form, and impulsive conversational responses; in the WS profile, salient characteristics were higher proportion of tangential utterances, reformulations, and conversational responses reflecting overly literal interpretation. Pragmatic profiles of violation of conversational maxims reflect specific communication skills impaired in adults with FXS and WS and raise the need for assessment and intervention methods that specifically address their social communication abilities.
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Keyword:
fragile X syndrome; Gricean maxims of conversation; pragmatic assessment; pragmatic impairment; social (pragmatic) communication disorder; Williams syndrome
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URL: https://doi.org/10.3390/brainsci12030385
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Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review
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In: Genes; Volume 13; Issue 2; Pages: 280 (2022)
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Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome
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In: Brain Sciences; Volume 12; Issue 5; Pages: 575 (2022)
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| 5 |
Pragmatic profiles of adults with Fragile X syndrome and Williams syndrome
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An Examination of Family Dynamics, Parental Responsivity, and Child Communication in Fragile X Syndrome
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Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome.
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In: Brain sciences, vol 11, iss 9 (2021)
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Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome.
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In: Brain sciences, vol 11, iss 9 (2021)
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| 9 |
Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome
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In: Brain Sciences ; Volume 11 ; Issue 9 (2021)
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Características de lenguaje oral y escrito en Síndrome de X-Frágil ; Oral and written language characteristics in X-Fragile Syndrome
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| 11 |
Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors.
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In: Journal of neurodevelopmental disorders, vol 12, iss 1 (2020)
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| 12 |
Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors.
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In: Journal of neurodevelopmental disorders, vol 12, iss 1 (2020)
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A neurophysiological model of speech production deficits in fragile X syndrome.
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In: Brain communications, vol 2, iss 1 (2020)
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| 14 |
Review of Autism Profiles and Response to Sertraline in Fragile X Syndrome-Associated Autism vs. Non-syndromic Autism; Next Steps for Targeted Treatment.
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The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development.
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In: Brain sciences, vol 10, iss 2 (2020)
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The Relationship between Expressive Language Sampling and Clinical Measures in Fragile X Syndrome and Typical Development
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In: Brain Sciences ; Volume 10 ; Issue 2 (2020)
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Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment
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In: Brain Sciences ; Volume 10 ; Issue 4 (2020)
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Repeat-Associated Non-Aug Translation Initiation at Expanded Ggggcc Repeats in c9orf72-Associated Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
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| 19 |
Excitatory-Inhibitory Circuit Dysregulation During The Auditory Cortex Critical Period In The Fragile X Syndrome Mouse Model
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In: Publicly Accessible Penn Dissertations (2020)
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| 20 |
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
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In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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