Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: through eye movements

Annie Shelton, Kim Marie Cornish, Claudine Kraan, Nellie Georgiou-Karistianis, Sylvia Ann Metcalfe, John Lockyer Bradshaw, Darren Robert Hocking, Alison D Archibald, Jonathon Cohen, Julian Norman Trollor, Joanne Fielding

Research output: Contribution to journalArticleResearchpeer-review

Abstract

There is evidence which demonstrates that a subset of males with a premutation CGG repeat expansion (between 55 and 200 repeats) of the fragile X mental retardation 1 gene exhibit subtle deficits of executive function that progressively deteriorate with increasing age and CGG repeat length. However, it remains unclear whether similar deficits, which may indicate the onset of more severe degeneration, are evident in female PM-carriers. In the present study we explore whether female PM-carriers exhibit deficits of executive function which parallel those of male PM-carriers. Fourteen female fragile X premutation carriers without fragile X-associated tremor/ataxia syndrome and fourteen age, sex, and IQ matched controls underwent ocular motor and neuropsychological tests of select executive processes, specifically of response inhibition and working memory. Group comparisons revealed poorer inhibitory control for female premutation carriers on ocular motor tasks, in addition to demonstrating some difficulties in behaviour self-regulation, when compared to controls. A negative correlation between CGG repeat length and antisaccade error rates for premutation carriers was also found. Our preliminary findings indicate that impaired inhibitory control may represent a phenotype characteristic which may be a sensitive risk biomarker within this female fragile X premutation population.
Original languageEnglish
Pages (from-to)201 - 208
Number of pages8
JournalBrain and Cognition
Volume85
Issue number1
DOIs
Publication statusPublished - 2014

Cite this

Shelton, Annie ; Cornish, Kim Marie ; Kraan, Claudine ; Georgiou-Karistianis, Nellie ; Metcalfe, Sylvia Ann ; Bradshaw, John Lockyer ; Hocking, Darren Robert ; Archibald, Alison D ; Cohen, Jonathon ; Trollor, Julian Norman ; Fielding, Joanne. / Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: through eye movements. In: Brain and Cognition. 2014 ; Vol. 85, No. 1. pp. 201 - 208.
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abstract = "There is evidence which demonstrates that a subset of males with a premutation CGG repeat expansion (between 55 and 200 repeats) of the fragile X mental retardation 1 gene exhibit subtle deficits of executive function that progressively deteriorate with increasing age and CGG repeat length. However, it remains unclear whether similar deficits, which may indicate the onset of more severe degeneration, are evident in female PM-carriers. In the present study we explore whether female PM-carriers exhibit deficits of executive function which parallel those of male PM-carriers. Fourteen female fragile X premutation carriers without fragile X-associated tremor/ataxia syndrome and fourteen age, sex, and IQ matched controls underwent ocular motor and neuropsychological tests of select executive processes, specifically of response inhibition and working memory. Group comparisons revealed poorer inhibitory control for female premutation carriers on ocular motor tasks, in addition to demonstrating some difficulties in behaviour self-regulation, when compared to controls. A negative correlation between CGG repeat length and antisaccade error rates for premutation carriers was also found. Our preliminary findings indicate that impaired inhibitory control may represent a phenotype characteristic which may be a sensitive risk biomarker within this female fragile X premutation population.",
author = "Annie Shelton and Cornish, {Kim Marie} and Claudine Kraan and Nellie Georgiou-Karistianis and Metcalfe, {Sylvia Ann} and Bradshaw, {John Lockyer} and Hocking, {Darren Robert} and Archibald, {Alison D} and Jonathon Cohen and Trollor, {Julian Norman} and Joanne Fielding",
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Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: through eye movements. / Shelton, Annie; Cornish, Kim Marie; Kraan, Claudine; Georgiou-Karistianis, Nellie; Metcalfe, Sylvia Ann; Bradshaw, John Lockyer; Hocking, Darren Robert; Archibald, Alison D; Cohen, Jonathon; Trollor, Julian Norman; Fielding, Joanne.

In: Brain and Cognition, Vol. 85, No. 1, 2014, p. 201 - 208.

Research output: Contribution to journalArticleResearchpeer-review

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AU - Shelton, Annie

AU - Cornish, Kim Marie

AU - Kraan, Claudine

AU - Georgiou-Karistianis, Nellie

AU - Metcalfe, Sylvia Ann

AU - Bradshaw, John Lockyer

AU - Hocking, Darren Robert

AU - Archibald, Alison D

AU - Cohen, Jonathon

AU - Trollor, Julian Norman

AU - Fielding, Joanne

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AB - There is evidence which demonstrates that a subset of males with a premutation CGG repeat expansion (between 55 and 200 repeats) of the fragile X mental retardation 1 gene exhibit subtle deficits of executive function that progressively deteriorate with increasing age and CGG repeat length. However, it remains unclear whether similar deficits, which may indicate the onset of more severe degeneration, are evident in female PM-carriers. In the present study we explore whether female PM-carriers exhibit deficits of executive function which parallel those of male PM-carriers. Fourteen female fragile X premutation carriers without fragile X-associated tremor/ataxia syndrome and fourteen age, sex, and IQ matched controls underwent ocular motor and neuropsychological tests of select executive processes, specifically of response inhibition and working memory. Group comparisons revealed poorer inhibitory control for female premutation carriers on ocular motor tasks, in addition to demonstrating some difficulties in behaviour self-regulation, when compared to controls. A negative correlation between CGG repeat length and antisaccade error rates for premutation carriers was also found. Our preliminary findings indicate that impaired inhibitory control may represent a phenotype characteristic which may be a sensitive risk biomarker within this female fragile X premutation population.

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