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1
Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022)
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.
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
URL: https://escholarship.org/uc/item/2m78r62b
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2
Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report.
In: Developmental neurorehabilitation, vol 25, iss 2 (2022)
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3
Potential of automatic speech processing technologies for early detection of oral language disorders: a meta-analytic review ...
Bonnet, Camille. - : Open Science Framework, 2022
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4
Identifying preschool measures most predictive of language outcomes at 11 years in the Early Language in Victoria Study ...
Gasparini, Loretta. - : Open Science Framework, 2022
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5
Examining the barriers to accessing and utilizing healthcare services for minority-language speakers with neurodevelopmental disorders: a scoping review ...
Beauchamp, Myriam. - : Open Science Framework, 2022
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6
New perspectives, theory, method, and practice: Qualitative research and innovation in speech-language pathology
In: Research outputs 2022 to 2026 (2022)
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7
Effects of CPAP on Language Recovery in Post-Stroke Aphasia: A Review of Recent Literature
In: Brain Sciences; Volume 12; Issue 3; Pages: 379 (2022)
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8
Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective
In: Journal of Personalized Medicine; Volume 12; Issue 2; Pages: 313 (2022)
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9
Oral and Laryngeal Articulation Control of Voicing in Children with and without Speech Sound Disorders
In: Children; Volume 9; Issue 5; Pages: 649 (2022)
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10
The BioVisualSpeech corpus of words with sibilants for speech therapy games development
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11
L’acquisition des pronoms en L1. Le cas d’enfants à développement typique et d’enfants à développement atypique
In: Corela, Vol 35 (2022) (2022)
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12
Orofacial Motricity and Dysphagia: analysis of theses defended by Brazilian speech-language pathologists
In: Revista CEFAC, Vol 24, Iss 1 (2022) (2022)
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13
Skraban-Deardorff syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype
In: ISSN: 0009-9163 ; EISSN: 1399-0004 ; Clinical Genetics ; https://hal.archives-ouvertes.fr/hal-03134882 ; Clinical Genetics, Wiley, 2021, 99 (5), pp.732-739. ⟨10.1111/cge.13933⟩ (2021)
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14
Processing rhythm in speech and music: Shared mechanisms and implications for developmental speech and language disorders.
In: ISSN: 0894-4105 ; Neuropsychology ; https://hal.archives-ouvertes.fr/hal-03384346 ; Neuropsychology, American Psychological Association, 2021, ⟨10.1037/neu0000766⟩ (2021)
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15
Speech Treatment Effects on Narrative Intelligibility in French-Speaking Children with Dysarthria.
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16
Construction of an automatic score for the evaluation of speech disorders among patients treated for a cancer of the oral cavity or the oropharynx: The Carcinologic Speech Severity Index
In: ISSN: 1043-3074 ; EISSN: 1097-0347 ; Head and Neck ; https://hal-univ-tlse3.archives-ouvertes.fr/hal-03413678 ; Head and Neck, Wiley, In press, ⟨10.1002/hed.26903⟩ (2021)
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17
The Status of Dysphagia Clinics During the COVID-19 Pandemic.
Serel-Arslan, Selen; Demir, Numan; Belafsky, Peter Charles. - : eScholarship, University of California, 2021
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18
The Status of Dysphagia Clinics During the COVID-19 Pandemic.
Serel-Arslan, Selen; Demir, Numan; Belafsky, Peter Charles. - : eScholarship, University of California, 2021
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19
Arbitrary but predictive cues support attention to overlooked features
Luna, Michelle L; Sandhofer, Catherine M. - : eScholarship, University of California, 2021
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20
Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report.
Del Hoyo Soriano, Laura; Bullard, Lauren; Thurman, Angela John. - : eScholarship, University of California, 2021
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