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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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Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation
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In: J Neurodev Disord (2022)
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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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Concurrent Associations between Expressive Language Ability and Independence in Adolescents and Adults with Fragile X Syndrome
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In: Brain Sci (2021)
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Reading in Children With Fragile X Syndrome: Phonological Awareness and Feasibility of Intervention.
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In: American journal on intellectual and developmental disabilities, vol 123, iss 3 (2018)
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Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range.
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In: Frontiers in genetics, vol 9, iss AUG (2018)
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Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range.
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In: Klusek, Jessica; Porter, Anna; Abbeduto, Leonard; Adayev, Tatyana; Tassone, Flora; Mailick, Marsha R; et al.(2018). Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range. Frontiers in genetics, 9(AUG), 344. doi:10.3389/fgene.2018.00344. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/0dn6p4z8 (2018)
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Reading in Children with Fragile X Syndrome: Phonological Awareness and Feasibility of Intervention
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Pragmatic Language Features of Mothers with the FMR1 Premutation are Associated with the Language Outcomes of Adolescents and Young Adults with Fragile X Syndrome
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In: Faculty Publications (2016)
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Reading and Phonological Skills in Boys with Fragile X Syndrome ...
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Reading and Phonological Skills in Boys with Fragile X Syndrome
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Reading and Phonological Skills in Boys with Fragile X Syndrome
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In: Faculty Publications (2015)
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Cardiac Autonomic Regulation in Autism and Fragile X Syndrome: A Review
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Abstract:
Despite the significance of efforts to understand the biological basis of autism, progress in this area has been hindered, in part, by the considerable heterogeneity in the disorder. Fragile X syndrome (FXS), a monogenic condition associated with high risk for autism, may pave the way for the dissection of biological heterogeneity within idiopathic autism. This paper adopts a cross-syndrome biomarker approach to evaluate potentially overlapping profiles of cardiac arousal dysregulation (and broader autonomic dysfunction) in autism and FXS. Approaches such as this, aimed at delineating shared mechanisms across genetic syndromes, hold great potential for improving diagnostic precision, promoting earlier identification, and uncovering key systems that can be targeted in pharmaceutical/behavioral interventions. Biomarker approaches may be vital to deconstructing complex psychiatric disorders, and are currently promoted as such by major research initiatives such as the NIMH Research Domain Criteria (RDoC). Evidence reviewed here supports physiological dysregulation in a subset of individuals with autism, as evidenced by patterns of hyperarousal and dampened parasympathetic vagal tone, which overlap with the well-documented physiological profile of FXS. Moreover, there is growing support for a link between aberrant cardiac activity and core deficits associated with autism, such as communication and social impairment. The delineation of physiological mechanisms common to autism and FXS could lend insight into relationships between genetic etiology and behavioral endstates, highlighting FMR1 as a potential candidate gene. Research gaps and potential pitfalls are discussed to inform timely, well-controlled biomarker research that will ultimately promote better diagnosis and treatment of autism and associated conditions.
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URL: http://www.ncbi.nlm.nih.gov/pubmed/25420222 https://doi.org/10.1037/a0038237 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293203/
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Phonological Awareness and Reading in Boys with Fragile X Syndrome
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Social Communication and Theory of Mind in Boys with Autism and Fragile X Syndrome
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