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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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Abstract:
BackgroundWomen who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the FMR1 premutation across midlife, and associations with family history of fragile X-associated tremor/ataxia syndrome (FXTAS) and CGG repeat length.MethodsForty-five women with the FMR1 premutation aged 35-64years at study entry participated in 1-5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing.ResultsHierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50s. CGG repeat length was not a significant predictor of age-related change.ConclusionsResults suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation.
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Keyword:
2.1 Biological and endogenous factors; Acquired Cognitive Impairment; Adult; Aging; Alleles; Alzheimer's Disease; Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD); Ataxia; Behavioral and Social Science; Brain Disorders; Child; Clinical Research; Cognitive Dysfunction; Dementia; Female; Fragile X Mental Retardation Protein; Fragile X premutation; Fragile X Syndrome; Genetics; Grammatical complexity; Humans; Intellectual and Developmental Disabilities (IDD); Language Disorders; Language production; Middle Aged; Mothers; Neurodegenerative; Neurodegenerative Diseases; Neurological; Neurosciences; Pediatric; Psychology; Rare Diseases; Tremor
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URL: https://escholarship.org/uc/item/2m78r62b
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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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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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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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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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