期刊
HUMAN BRAIN MAPPING
卷 35, 期 9, 页码 4904-4915出版社
WILEY
DOI: 10.1002/hbm.22521
关键词
autism spectrum behavior; MRI; topological data analysis; multivariate pattern analysis; voxel-based morphometry
资金
- National Institute of Mental Health [R01MH050047, R01MH064708, R01MH064580, MH061696, 5T32MH019908]
- National Institute of Child Health and Human Development [P30HD003110]
- Canel Family Fund
- Direct For Mathematical & Physical Scien
- Division Of Mathematical Sciences [1228304] Funding Source: National Science Foundation
Fragile X syndrome (FXS), due to mutations of the FMR1 gene, is the most common known inherited cause of developmental disability as well as the most common single-gene risk factor for autism. Our goal was to examine variation in brain structure in FXS with topological data analysis (TDA), and to assess how such variation is associated with measures of IQ and autism-related behaviors. To this end, we analyzed imaging and behavioral data from young boys (n = 52; aged 1.57-4.15 years) diagnosed with FXS. Application of topological methods to structural MRI data revealed two large subgroups within the study population. Comparison of these subgroups showed significant between-subgroup neuroanatomical differences similar to those previously reported to distinguish children with FXS from typically developing controls (e. g., enlarged caudate). In addition to neuroanatomy, the groups showed significant differences in IQ and autism severity scores. These results suggest that despite arising from a single gene mutation, FXS may encompass two biologically, and clinically separable phenotypes. In addition, these findings underscore the potential of TDA as a powerful tool in the search for biological phenotypes of neuropsychiatric disorders. (C) 2014 Wiley Periodicals, Inc.
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