The nature of the spatial deficit in young females with Fragile-X syndrome: a neuropsychological and molecular perspective.
Spatial performance in a group of young Fragile-X syndrome females with FMR-1 full mutation was compared to two control groups of mainstream schoolchildren. Performance was assessed across a wide range of spatial tasks including visuo-spatial, visuo-construction, visuo-motor, visuo-perception and spatial-memory. A spatial deficit emerged only on those tasks which comprised a visuo-constructive component, with the Fragile-X group performing worse overall. All other tasks were performed at a comparable level across the three groups. Molecular analysis of the lymphocyte DNA found minimal evidence for a correlation between expansion size and spatial performance. In addition, there was no evidence for a correlation between the proportion of active to inactive unmethylated FMR-1 genes (activation ratio) and spatial performance. These results conflict with recent reports of a correlation between activation ratio and intellectual functioning.
Cornish
K M
KM
Neuropsychology of Genetic Disorders Research Unit, Faculty of Medicine, Medical School, University of Nottingham, Queens Medical Centre, UK.
Munir
F
F
Cross
G
G
D000293:Adolescent; D002648:Child; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D007360:Intelligence / Q000235:genetics; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics*; D015999:Multivariate Analysis; D009419:Nerve Tissue Proteins / Q000235:genetics; D009483:Neuropsychological Tests; D016601:RNA-Binding Proteins; D012044:Regression Analysis; D013028:Space Perception / Q000502:physiology*; D018911:Trinucleotide Repeats; D014960:X Chromosome / Q000235:genetics
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human