Cognitive and Visual Processing Skills and Their Relationship to Mutation Size in Full and Premutation Female Fragile X Carriers

Block, Sandra; Brusca-Vega, Rita; Pizzi, William J.; Berry‐Kravis, Elizabeth; Maino, Dominick M.; Treitman, Theresa M.

doi:10.1097/00006324-200011000-00009

Cited by 11 publications

(6 citation statements)

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“…2000). These cognitive tests were chosen because they are well standardized, and have been utilized by other researchers in assessing these areas of functioning for persons with ID (Block et al . 2000; Strydom & Hassiotis 2003).…”

Section: Methodsmentioning

confidence: 99%

“…Executive function domain assesses freedom from distractibility, initiation and task persistence and maintenance of set, and was measured by performance on the Wisconsin Card Sorting Test-64 (perseverative errors, total number of errors, conceptual level responses and trials to complete the first category) (Kongs et al 2000). These cognitive tests were chosen because they are well standardized, and have been utilized by other researchers in assessing these areas of functioning for persons with ID (Block et al 2000;Strydom & Hassiotis 2003).…”

Section: Neuropsychological Assessmentmentioning

confidence: 99%

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Neuropsychological predictors of everyday functioning in adults with intellectual disabilities

Chen

Wuang

et al. 2007

J intellect Disabil Res

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Section: Methodsmentioning

confidence: 99%

Section: Neuropsychological Assessmentmentioning

confidence: 99%

Neuropsychological predictors of everyday functioning in adults with intellectual disabilities

Chen

Wuang

et al. 2007

J intellect Disabil Res

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“…The first genome-wide scan performed on menopause age yielded significant and suggestive linkage on the X chromosome predominantly caused by women with an early menopause. 36 The X chromosome has also been associated with cognitive function as seen in women carrying the FRAXE premutation 37,38 and in women with Turner syndrome. The estrogen-receptor a gene has been associated with ovarian ageing, 39 and estrogen receptor-a polymorphisms have been linked to cognitive impairment and dementia, 40 perhaps interacting with the effect of apoE4.…”

Section: Programming Of Ovarian and Cognitive Functionmentioning

confidence: 99%

Childhood cognitive ability and age at menopause: evidence from two cohort studies

et al. 2005

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The association between early cognitive ability and timing of menopause only partially reflects common risk factors, although residual confounding remains a possibility. Alternatively, early environmental or genetic programming may explain this association, perhaps through setting lifelong patterns of hormone release or causing transient hormonal changes at sensitive periods of development. These findings have implications for the interpretation of studies investigating an association between age at menopause and adult cognitive function.

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“…FXS is also associated with unusual responses to a variety of sensory stimuli. For example, individuals with FXS display impaired visual-motor functions that are inversely correlated to the expansion number of the trinucleotide repeat mutation in the FMR1 gene [ 5 ]. These visual impairments are not generalized but appear to be selective to and pervasive in the magnocellular visual processing stream [ 6 – 8 ], an anatomically and functionally segregated visual pathway that controls motion perception.…”

Section: Introductionmentioning

confidence: 99%

Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome

et al. 2020

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Background Loss or disrupted expression of the FMR1 gene causes fragile X syndrome (FXS), the most common monogenetic form of autism in humans. Although disruptions in sensory processing are core traits of FXS and autism, the neural underpinnings of these phenotypes are poorly understood. Using calcium imaging to record from the entire brain at cellular resolution, we investigated neuronal responses to visual and auditory stimuli in larval zebrafish, using fmr1 mutants to model FXS. The purpose of this study was to model the alterations of sensory networks, brain-wide and at cellular resolution, that underlie the sensory aspects of FXS and autism. Results Combining functional analyses with the neurons’ anatomical positions, we found that fmr1−/− animals have normal responses to visual motion. However, there were several alterations in the auditory processing of fmr1−/− animals. Auditory responses were more plentiful in hindbrain structures and in the thalamus. The thalamus, torus semicircularis, and tegmentum had clusters of neurons that responded more strongly to auditory stimuli in fmr1−/− animals. Functional connectivity networks showed more inter-regional connectivity at lower sound intensities (a − 3 to − 6 dB shift) in fmr1−/− larvae compared to wild type. Finally, the decoding capacities of specific components of the ascending auditory pathway were altered: the octavolateralis nucleus within the hindbrain had significantly stronger decoding of auditory amplitude while the telencephalon had weaker decoding in fmr1−/− mutants. Conclusions We demonstrated that fmr1−/− larvae are hypersensitive to sound, with a 3–6 dB shift in sensitivity, and identified four sub-cortical brain regions with more plentiful responses and/or greater response strengths to auditory stimuli. We also constructed an experimentally supported model of how auditory information may be processed brain-wide in fmr1−/− larvae. Our model suggests that the early ascending auditory pathway transmits more auditory information, with less filtering and modulation, in this model of FXS.

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Cognitive and Visual Processing Skills and Their Relationship to Mutation Size in Full and Premutation Female Fragile X Carriers

Abstract: These findings have implications in educational planning decisions for full mutation carriers who may present with specific cognitive deficits.

Cited by 11 publications

References 40 publications

Neuropsychological predictors of everyday functioning in adults with intellectual disabilities

Neuropsychological predictors of everyday functioning in adults with intellectual disabilities

Childhood cognitive ability and age at menopause: evidence from two cohort studies

Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome

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