title: Altered functional connectivity of the default mode network in Williams syndrome: a multimodal approach.
abstract: Resting state brain networks are implicated in a variety of relevant brain functions. Importantly, abnormal patterns of functional connectivity (FC) have been reported in several neurodevelopmental disorders. In particular, the Default Mode Network (DMN) has been found to be associated with social cognition. We hypothesize that the DMN may be altered in Williams syndrome (WS), a neurodevelopmental genetic disorder characterized by an unique cognitive and behavioral phenotype. In this study, we assessed the architecture of the DMN using fMRI in WS patients and typically developing matched controls (sex and age) in terms of FC and volumetry of the DMN. Moreover, we complemented the analysis with a functional connectome approach. After excluding participants due to movement artifacts (n = 3), seven participants with WS and their respective matched controls were included in the analyses. A decreased FC between the DMN regions was observed in the WS group when compared with the typically developing group. Specifically, we found a decreased FC in a posterior hub of the DMN including the precuneus, calcarine and the posterior cingulate of the left hemisphere. The functional connectome approach showed a focalized and global increased FC connectome in the WS group. The reduced FC of the posterior hub of the DMN in the WS group is consistent with immaturity of the brain FC patterns and may be associated with the singularity of their visual spatial phenotype.
authors.affiliation: Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Portugal.
authors.forename: Adriana
authors.initials: A
authors.lastname: Sampaio
authors.affiliation: Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Portugal.|ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
authors.forename: Pedro Silva
authors.initials: PS
authors.lastname: Moreira
authors.affiliation: Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Portugal.|Social and Cognitive Neuroscience Lab, Post-Graduate Program on Developmental Disorders - Center for Biological and Health Sciences, Mackenzie Presbyterian University, São Paulo, Brazil.
authors.forename: Ana
authors.initials: A
authors.lastname: Osório
authors.affiliation: Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Portugal.|ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Magalhães
authors.affiliation: Department of Neuroradiology, CHP - Hospital Santo António, Porto, Portugal.
authors.forename: Cristiana
authors.initials: C
authors.lastname: Vasconcelos
authors.affiliation: Genetic Molecular Unit, Galician Public Foundation of Genomic Medicine, University of Santiago de Compostela, Spain.
authors.forename: Montse
authors.initials: M
authors.lastname: Férnandez
authors.affiliation: Genetic Molecular Unit, Galician Public Foundation of Genomic Medicine, University of Santiago de Compostela, Spain.
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.affiliation: Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Portugal.
authors.forename: Joana
authors.initials: J
authors.lastname: Alegria
authors.affiliation: Neuropsychophysiology Lab, CIPsi, School of Psychology, University of Minho, Portugal.|Spaulding Neuromodulation Center, Department of Physical Medicine & Rehabilitation, Spaulding Rehabilitation Hospital and Massachusetts General Hospital, USA.|Department of Applied Psychology, Bouvé College of Health Sciences, Northeastern University, USA.
authors.forename: Óscar F
authors.initials: ÓF
authors.lastname: Gonçalves
authors.affiliation: Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Portugal.|ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
authors.forename: José Miguel
authors.initials: JM
authors.lastname: Soares
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000503:physiopathology*; D063132:Connectome; D059907:Functional Neuroimaging; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009415:Nerve Net / Q000503:physiopathology*; D009434:Neural Pathways / Q000503:physiopathology; D012919:Social Behavior; D065855:Spatial Processing / Q000502:physiology; D018980:Williams Syndrome / Q000503:physiopathology*; D055815:Young Adult