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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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| 2 |
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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| 5 |
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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Abstract:
Historically, investigations of FMR1 have focused almost exclusively on the clinical effects of CGG expansion within the categories of the premutation (55-200 CGG repeats) and fragile X syndrome (>200 CGG repeats). However, emerging evidence suggests that CGG-dependent phenotypes may occur across allele sizes traditionally considered within the "normal" range. This study adopted an individual-differences approach to determine the association between language production ability and CGG repeat length across the full range of normal, intermediate, and premutation alleles. Participants included 61 adult women with CGG repeats within the premutation (n = 37), intermediate (i.e., 41-54 repeats; n = 2), or normal (i.e., 6-40 repeats; n = 22) ranges. All participants were the biological mothers of a child with a developmental disorder, to control for the potential effects of parenting stress. Language samples were collected and the frequency of language disfluencies (i.e., interruptions in the flow of speech) served as an index of language production skills. Verbal inhibition skills, measured with the Hayling Sentence Completion Test, were also measured and examined as a correlate of language disfluency, consistent with theoretical work linking language disfluency with inhibitory deficits (i.e., the Inhibition Deficit Hypothesis). Blood samples were collected to determine FMR1 CGG repeat size. A general linear model tested CGG repeat size of the larger allele (allele-2) as the primary predictor of language disfluency, covarying for education level, IQ, age, and CGG repeats on the other allele. A robust curvilinear association between CGG length and language disfluency was detected, where low-normal (∼ <25 repeats) and mid-premutation alleles (∼90-110 repeats) were linked with higher rates of disfluency. Disfluency was not associated with inhibition deficits, which challenges prior theoretical work and suggests that a primary language deficit could account for elevated language disfluency in FMR1-associated conditions. Findings suggest CGG-dependent variation in language production ability, which was evident across individuals with and without CGG expansions on FMR1.
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Keyword:
2.1 Biological and endogenous factors; Behavioral and Social Science; Brain Disorders; Clinical Research; Clinical Sciences; executive dysfunction; FMR1 phenotype; FMR1 premutation; fragile X carriers; Fragile X Syndrome; Genetics; gray zone; Intellectual and Developmental Disabilities; language dysfluency; Law; low-normal CGG repeats; Mental Health; Pediatric; Rare Diseases; verbal inhibition
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URL: https://escholarship.org/uc/item/0dn6p4z8
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| 8 |
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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| 9 |
Reading in Children with Fragile X Syndrome: Phonological Awareness and Feasibility of Intervention
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| 10 |
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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| 11 |
Reading and Phonological Skills in Boys with Fragile X Syndrome ...
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| 12 |
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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Phonological Awareness and Reading in Boys with Fragile X Syndrome
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| 16 |
Social Communication and Theory of Mind in Boys with Autism and Fragile X Syndrome
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