@article{romano_topological_2014, abstract = {Fragile X syndrome ({FXS}), due to mutations of the {FMR}1 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. Hum Brain Mapp 35:4904–4915, 2014. © 2014 Wiley Periodicals, Inc.}, author = {Romano, David and Nicolau, Monica and Quintin, Eve-Marie and Mazaika, Paul K. and Lightbody, Amy A. and Hazlett, Heather Cody and Piven, Joseph and Carlsson, Gunnar and Reiss, Allan L.}, date = {2014}, doi = {10.1002/hbm.22521}, issn = {1097-0193}, journaltitle = {Human Brain Mapping}, keywords = {1 - Autism spectrum behavior, 1 - Voxel-based morphometry, 2 - Mapper, 3 - {MRI}}, langid = {english}, note = {\_eprint: https://onlinelibrary.wiley.com/doi/pdf/10.1002/hbm.22521}, number = {9}, pages = {4904--4915}, rights = {Copyright © 2014 Wiley Periodicals, Inc.}, title = {Topological methods reveal high and low functioning neuro-phenotypes within fragile X syndrome}, url = {https://onlinelibrary.wiley.com/doi/abs/10.1002/hbm.22521}, urldate = {2020-05-29}, volume = {35} }