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Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task

By Naomi J. Goodrich-Hunsaker, Ling M. Wong, Yingratana McLennan, Flora Tassone, Danielle Harvey, Susan M. Rivera and Tony J. Simon

Abstract

The high frequency of the fragile X premutation in the general population and its emerging neurocognitive implications highlight the need to investigate the effects of the premutation on lifespan cognitive development. Until recently, cognitive function in fragile X premutation carriers (fXPCs) was presumed to be unaffected by the mutation. Although as a group fXPCs did not differ from healthy controls (HCs), we show that young adult female fXPCs show subtle age- and significant fragile X mental retardation 1 (FMR1) gene mutation-modulated cognitive function as tested by a basic numerical enumeration task. These results indicate that older women with the premutation and fXPCs with greater CGG repeat lengths were at higher risk for difficulties in the deployment of volitional attention required to count 5–8 items, but spared performance when spatial shifts of attention were minimized to subitize a few (1–3). Results from the current study add to a growing body of evidence that suggests the premutation allele is associated with a subtle phenotype and implies that the cognitive demands necessary for counting are less effectively deployed in female fXPCs compared to HCs

Topics: Neuroscience
Publisher: Frontiers Research Foundation
OAI identifier: oai:pubmedcentral.nih.gov:3139190
Provided by: PubMed Central

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Citations

  1. (2004). A neuropsychological investigation of male premutation carriers of fragile X syndrome.
  2. (2008). A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and highrisk populations.
  3. (2009). A review of fragile X premutation disorders: expanding the psychiatric perspective.
  4. (2011). Adult female fragile X premutation carriers exhibit age- and CGG repeat length-related impairments on an attentionally based enumeration task.
  5. (2010). Advances in understanding the molecular basis of FXTAS.
  6. (2008). Age-dependent cognitive changes in carriers of the fragile X syndrome.
  7. (1994). Apparently enhanced visual information processing in female fragile X carriers: preliminary findings.
  8. (2002). Are subitizing and counting implemented as separate or functionally overlapping processes?
  9. (2000). Clinical involvement and protein expression in individuals with the FMR1 premutation.
  10. (1992). Cognitive profile in adult, normal intelligent female fragile X carriers.
  11. (1991). Cognitive profiles of the carrier fragile X woman.
  12. (2011). Enhanced manual and oral motor reaction time in young adult female fragile X premutation carriers.
  13. (2009). Fragile X syndrome – from genes to cognition.
  14. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
  15. (2009). Lifespan changes in working memory in fragile X premutation males.
  16. (2007). Linking visual attention and number processing in the brain: the role of the temporoparietal junction in small and large symbolic and nonsymbolic number comparison.
  17. (1999). Neural evidence linking visual object enumeration and attention.
  18. (1993). Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.
  19. (1990). Neuropsychological dysfunction evidence from studies of Turner syndrome, fragile X syndrome, and neurofibromatosis type 1.
  20. (2011). Numerical performance in female fXPCs Frontiers in Human Neuroscience www.frontiersin.org
  21. (2008). Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes.
  22. (2001). Profile of cognitive functioning in women with the fragile X mutation.
  23. (1975). Span and rate of apprehension in children and adults.
  24. (2005). Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome.
  25. (1997). WAIS-III: Wechsler Adult Intelligence Scale.
  26. (1993). What enumeration studies can tell us about spatial attention. Evidence for limited capacity preattentive processing.
  27. (1994). Why are small and large numbers enumerated differently? A limitedcapacity preattentive stage in vision.
  28. (2011). Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments.