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Related Experiment Video

Updated: Mar 22, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Executive Dysfunction in Female FMR1 Premutation Carriers.

Annie L Shelton1, Kim M Cornish1, Claudine M Kraan1

  • 1School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences (MICCN), Monash University, Melbourne, VIC, Australia.

Cerebellum (London, England)
|April 30, 2016
PubMed
Summary

Female fragile X premutation carriers show executive function deficits, particularly in timed tasks. Age did not significantly impact performance in this group of female carriers.

Keywords:
Executive functionFMR1Fragile XPremutation

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Area of Science:

  • Neuroscience
  • Genetics
  • Cognitive Psychology

Background:

  • Growing evidence suggests cognitive impairments in female fragile X premutation carriers (55-199 CGG repeats).
  • Executive function decline with age is noted in male carriers, but less is known about female carriers' age-related trajectories.

Purpose of the Study:

  • To investigate executive function performance in female fragile X premutation carriers compared to controls.
  • To examine the association between age and executive function in these female carriers.

Main Methods:

  • 20 female premutation carriers and 21 age/IQ-matched controls completed executive function tasks.
  • Tasks included the Behavioural Dyscontrol Scale (BDS), Symbol Digit Modalities Test (SDMT), Paced Auditory Serial Addition Test (PASAT), Hayling's Sentence Completion Test, and Digit Span.

Main Results:

  • Female carriers exhibited significant impairments on the BDS, SDMT, PASAT, and Hayling's test compared to controls.
  • These affected tasks require rapid, timed responses.
  • No significant association was found between age and task performance in either carriers or controls.

Conclusions:

  • Female fragile X premutation carriers demonstrate executive function deficits, especially in tasks needing rapid response times.
  • These findings highlight the utility of timed executive function measures for understanding the carrier phenotype.