title: Executive Dysfunction in Female FMR1 Premutation Carriers.
abstract: There is now growing evidence of cognitive weakness in female premutation carriers (between 55 and 199 CGG repeats) of the fragile X mental retardation gene, including impairments associated with executive function. While an age-related decline in assessments of executive function has been found for male premutation carriers, few studies have explored whether female carriers show a similar trajectory with age. A total of 20 female premutation carriers and 21 age- and IQ-matched healthy controls completed a battery of tasks assessing executive function tasks, including the behavioural dyscontrol scale (BDS), symbol digit modalities test (SDMT), paced auditory serial addition test (PASAT), Haylings sentence completion test and the digit span task (forward and backward). Performance was compared between premutation carriers and healthy controls, and the association between task performance and age was also ascertained. Compared to controls, female premutation carriers had significant impairment on the BDS, SDMT, PASAT, and Haylings sentence completion task, all of which rely on quick, or timed, responses. Further analyses revealed no significant association between age and task performance for either premutation carriers or controls. This study demonstrates that a cohort of female premutation carriers have deficits on a range of tasks of executive function that require the rapid temporal resolution of responses. We propose that the understanding of the phenotype of premutation carriers will be advanced through use of such measures.
authors.affiliation: School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences (MICCN), Monash University, Melbourne, VIC, Australia.
authors.forename: Annie L
authors.initials: AL
authors.lastname: Shelton
authors.affiliation: School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences (MICCN), Monash University, Melbourne, VIC, Australia.
authors.forename: Kim M
authors.initials: KM
authors.lastname: Cornish
authors.affiliation: School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences (MICCN), Monash University, Melbourne, VIC, Australia.
authors.forename: Claudine M
authors.initials: CM
authors.lastname: Kraan
authors.affiliation: Seaver Autism Center for Research and Treatment, Departments of Genetics and Genomic Sciences, Psychiatry, and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Reymundo
authors.initials: R
authors.lastname: Lozano
authors.affiliation: Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.
authors.forename: Minh
authors.initials: M
authors.lastname: Bui
authors.affiliation: School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences (MICCN), Monash University, Melbourne, VIC, Australia. joanne.fielding@monash.edu.|Department of Medicine, University of Melbourne, Melbourne, VIC, Australia. joanne.fielding@monash.edu.
authors.forename: Joanne
authors.initials: J
authors.lastname: Fielding
mesh_terms: D000328:Adult; D000367:Age Factors; D003072:Cognition Disorders / Q000235:genetics*; D015331:Cohort Studies; D056344:Executive Function; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007360:Intelligence; D007361:Intelligence Tests; D008875:Middle Aged; D009483:Neuropsychological Tests; D010641:Phenotype; D012044:Regression Analysis; D055815:Young Adult
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: Executive function; FMR1; Fragile X; Premutation