The use of eye movements to detect cognitive changes in carriers of medium expansions of the FMR1 gene.
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1
Monash University, School of Psychology and Psychiatry, Faculty of Medicine, Nursing and Health Sciences, Australia
Background: Medium sized expansions of the FMR1 gene result in a Fragile X premutation carrier (FXPC) status. While there is emerging evidence of neurocognitive dysfunction in male FXPCs, particularly during inhibitory and working memory tasks, this is yet to be thoroughly explored in female FXPCs. Aim: The present study employed saccadic paradigms as a sensitive method for assessing cognitive dysfunction, specifically inhibitory and working memory subcomponents, in female FXPCs. Method: Twelve female FXPCs aged between 25-52 years and eleven age matched controls (23-56 years), without a family history of intellectual disability, completed a range of saccadic and neurocognitive tasks. Results: Although mean IQ scores were above average for both groups, WASI full scale scores were lower for FXPCs, and they performed more poorly on the Behavioural Dyscontrol Scale. While saccade profiles were similar for both groups on ocular motor paradigms, a greater percentage of directional errors were found for both antisaccades and memory guided saccades for FXPCs, as well as greater variability for antisaccade accuracy and velocity-waveform profile measures. Conclusion: The greater number of errors made by female FXPCs on tasks requiring participants to inhibit a prepotent response, provides solid evidence for response inhibition deficits in these women. Further, greater variability suggests that cerebellar feedback loops may also be interrupted. These findings endorse an inhibitory domain specific deficit with probable cerebellar involvement in female FXPCs.
Keywords:
FMR1,
premutation,
Saccades,
Fragile X Syndrome,
working memory,
Inhibitory Control
Conference:
ACNS-2012 Australasian Cognitive Neuroscience Conference, Brisbane, Australia, 29 Nov - 2 Dec, 2012.
Presentation Type:
Oral Presentation
Topic:
Executive Processes
Citation:
Shelton
A,
Kraan
C,
Cornish
K and
Fielding
J
(2012). The use of eye movements to detect cognitive changes in carriers of medium expansions of the FMR1 gene..
Conference Abstract:
ACNS-2012 Australasian Cognitive Neuroscience Conference.
doi: 10.3389/conf.fnhum.2012.208.00081
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Received:
25 Oct 2012;
Published Online:
07 Nov 2012.
*
Correspondence:
Ms. Annie Shelton, Monash University, School of Psychology and Psychiatry, Faculty of Medicine, Nursing and Health Sciences, Clayton, Victoria, 3800, Australia, alshelton@ucdavis.edu