Neuroimaging research in Williams syndrome: Beginning to bridge the gap with clinical care

Robyn P Thom; Camila Canales; Mary Tresvalles; Christopher J McDougle; Jacob M Hooker; Yachin Chen; Nicole R Zürcher

doi:10.1016/j.neubiorev.2023.105364

Neuroimaging research in Williams syndrome: Beginning to bridge the gap with clinical care

Neurosci Biobehav Rev. 2023 Oct:153:105364. doi: 10.1016/j.neubiorev.2023.105364. Epub 2023 Aug 19.

Authors

Robyn P Thom¹, Camila Canales², Mary Tresvalles³, Christopher J McDougle⁴, Jacob M Hooker⁵, Yachin Chen⁵, Nicole R Zürcher⁵

Affiliations

¹ Lurie Center for Autism, 1 Maguire Road, Lexington, MA 02421, USA; Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA; Department of Psychiatry, Harvard Medical School, 25 Shattuck St, Boston, MA 02115, USA. Electronic address: rthom@mgh.harvard.edu.
² Lurie Center for Autism, 1 Maguire Road, Lexington, MA 02421, USA; Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA.
³ Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA; Georgetown University School of Medicine, 3900 Reservoir Rd NW, Washington, DC 20007, USA.
⁴ Lurie Center for Autism, 1 Maguire Road, Lexington, MA 02421, USA; Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA; Department of Psychiatry, Harvard Medical School, 25 Shattuck St, Boston, MA 02115, USA.
⁵ Lurie Center for Autism, 1 Maguire Road, Lexington, MA 02421, USA; Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA; Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129, USA.

PMID: 37598875
DOI: 10.1016/j.neubiorev.2023.105364

Abstract

Williams syndrome (WS) is a genetic disorder affecting multiple organ systems. Cardinal features include cardiovascular disease, distinct facies, and a unique cognitive profile characterized by intellectual disability, hypersociability, and visuospatial weaknesses. Here, we synthesize neuroimaging research in WS with a focus on how the current literature and future work may be leveraged to improve health and quality of life in WS. More than 80 neuroimaging studies in WS have been conducted, the vast majority of which have focused on identifying morphometric brain differences. Aside from decreased volume of the parieto-occipital region and increased cerebellar volume, morphometric findings have been variable across studies. fMRI studies investigating the visuospatial deficit have identified dorsal stream dysfunction and abnormal activation of the hippocampal formation. Minimal work has been done using PET or MRS. Future approaches that conduct neuroimaging in tandem with clinical phenotyping, utilize novel imaging techniques to visualize brain vasculature or provide biochemical and molecular information, and include more homogenous age groups across the lifespan, have significant potential to advance clinical care.

Keywords: Brain; MRI; Neuroimaging; PET; Williams syndrome.

Publication types

Review