Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: Through eye movements |
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| Affiliation: | 1. School of Psychiatry and Psychology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3800, Australia;2. Genetics Education and Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia;3. Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria 3025, Australia;4. Victorian Clinical Genetics Services, Flemington Rd, Parkville, Victoria 3052, Australia;5. Centre for Developmental Disability Health Victoria, Monash University, Clayton, Victoria 3800, Australia;6. Fragile X Alliance Inc., Clinic and Resource Centre, 263 Glen Eira Road, North Caulfield, Victoria 3161, Australia;7. Department of Developmental Disability Neuropsychiatry and Centre for Health Brain Ageing, School of Psychiatry, University of New South Wales, Sydney 2052, Australia;8. Olga Tennison Autism Research Centre, School of Psychological Science, La Trobe University, Bundoora 3086, Australia;1. School of Psychological Science, La Trobe University, Bundoora, Victoria 3086, Australia;2. Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia;3. School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia;4. Royal North Shore Hospital, St. Leonards, New South Wales, Australia;5. Department of Neurology, Royal Melbourne Hospital, Parkville, Victoria, Australia;6. Clinical Genetics, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia;1. Department of Clinical Radiology, Bristol Royal Infirmary, Bristol BS28HW, UK;2. School of Physiology, Pharmacology and Neurosciences, University of Bristol, Bristol BS8 1TD, UK;3. Department of Cardiology, Bristol Heart Institute, Bristol BS28HW, UK;4. MEMO Clinical Engineering, Bristol Royal Infirmary, Bristol BS28HW, UK;1. Neurosciences Department and Neuroscience Centre, University of Padua, Padua, Italy;2. Discipline of Psychology, Flinders University, Adelaide, SA, Australia;3. School of Psychological Sciences, The University of Western Australia, Perth, WA, Australia;4. Institute of Primary Health Care (BIHAM), University of Bern, Bern, Switzerland;5. Department of Psychiatry, University of Oxford, Oxford, UK;6. Oxford Health National Health Service Foundation Trust, Warneford Hospital, Oxford, UK;7. Department of Psychological Medicine, King''s College London, London, UK;8. South London and Maudsley National Health Service Foundation Trust, London, UK;9. Department of Psychosomatic Medicine and Psychotherapy, University Medical Hospital Tübingen, Tübingen, Germany;1. Division of Psychology, Abertay University, Dundee, UK;2. Department of Security and Crime Science, University College London, London, UK;3. Department of Neurosciences, University of Parma, Parma, Italy |
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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. |
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| Keywords: | Saccade Eye tracking Premutation carrier Fragile X syndrome FXS FMR1 Response inhibition |
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