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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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Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report.
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In: Developmental neurorehabilitation, vol 25, iss 2 (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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Abstract:
BACKGROUND: Women 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. METHODS: Forty-five women with the FMR1 premutation aged 35–64 years 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. RESULTS: Hierarchical 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-50 s. CGG repeat length was not a significant predictor of age-related change. CONCLUSIONS: Results 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:
Research
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URL: https://doi.org/10.1186/s11689-022-09415-3
http://www.ncbi.nlm.nih.gov/pubmed/35026985
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8903682/
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Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: Brief report
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In: Dev Neurorehabil (2022)
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Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report.
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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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Using telehealth-delivered procedures to collect a parent-implemented expressive language sampling narrative task in monolingual and bilingual families with Autism Spectrum Disorder: A pilot study
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In: Front Rehabilit Sci (2021)
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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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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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| 13 |
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: J Neurodev Disord (2020)
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A neurophysiological model of speech production deficits in fragile X syndrome
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In: Brain Commun (2019)
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Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder
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Use of emotional cues for lexical learning: a comparison of autism spectrum disorder and fragile X syndrome.
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In: Journal of autism and developmental disorders, vol 45, iss 4 (2015)
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Autism Symptomatology in Boys with Fragile X Syndrome: A Cross Sectional Developmental Trajectories Comparison with Nonsyndromic Autism Spectrum Disorder.
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In: Journal of autism and developmental disorders, vol 45, iss 9 (2015)
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Use of Emotional Cues for Lexical Learning: A Comparison of Autism Spectrum Disorder and Fragile X Syndrome
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