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

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

doi:10.1016/j.neubiorev.2023.105364

Cited by 4 publications

(1 citation statement)

References 80 publications

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“…Efforts to relate these contrasting cognitive features to neural structure and function in WS have paralleled the behavioral findings: Alterations in areas classically linked to spatial processing have been consistently reported, whereas the neuroimaging literature regarding circuits classically related to face processing has been mixed 36 . Regarding the former, there has been substantial agreement across a number of studies that all show altered structure and function of the intraparietal sulcus (IPS), which is located within the inferior parietal lobule 37 and is a key hub for visuospatial processing abilities that include navigating through space and understanding the spatial properties of objects 38 .…”

Section: Introductionmentioning

confidence: 99%

Contrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms

Garvey,

Nash,

Kippenhan

et al. 2024

Sci Rep

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Understanding neurogenetic mechanisms underlying neuropsychiatric disorders such as schizophrenia and autism is complicated by their inherent clinical and genetic heterogeneity. Williams syndrome (WS), a rare neurodevelopmental condition in which both the genetic alteration (hemideletion of ~ twenty-six 7q11.23 genes) and the cognitive/behavioral profile are well-defined, offers an invaluable opportunity to delineate gene-brain-behavior relationships. People with WS are characterized by increased social drive, including particular interest in faces, together with hallmark difficulty in visuospatial processing. Prior work, primarily in adults with WS, has searched for neural correlates of these characteristics, with reports of altered fusiform gyrus function while viewing socioemotional stimuli such as faces, along with hypoactivation of the intraparietal sulcus during visuospatial processing. Here, we investigated neural function in children and adolescents with WS by using four separate fMRI paradigms, two that probe each of these two cognitive/behavioral domains. During the two visuospatial tasks, but not during the two face processing tasks, we found bilateral intraparietal sulcus hypoactivation in WS. In contrast, during both face processing tasks, but not during the visuospatial tasks, we found fusiform hyperactivation. These data not only demonstrate that previous findings in adults with WS are also present in childhood and adolescence, but also provide a clear example that genetic mechanisms can bias neural circuit function, thereby affecting behavioral traits.

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Section: Introductionmentioning

confidence: 99%

Contrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms

Garvey,

Nash,

Kippenhan

et al. 2024

Sci Rep

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From the Editor-in-Chief's Desk: Reflecting on Our Past and Future

Croarkin

2024

Journal of Child and Adolescent Psychopharmacology

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Psychiatric and behavioral manifestations of Williams syndrome

Thom

2023

Current Opinion in Psychiatry

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Purpose of review The purpose of this review is to synthesize recent advances in the psychiatric and behavioral manifestations of Williams syndrome, a rare genetic syndrome. Recent advances have focused on more deeply characterizing the social phenotype and developing social skill interventions, improving the assessment and treatment of anxiety, and exploring eating behaviors. Recent findings The social cognitive phenotype in Williams syndrome, which consists of both high social drive and social cognition deficits, is present cross-culturally and may be related to reduced eye gaze. Social skills training for adults with Williams syndrome has demonstrated promise. Adapted exposure therapy and cognitive behavioral therapy programs for children and adults respectively, have been piloted in Williams syndrome. The majority of adults with Williams syndrome are either underweight or overweight, and problematic food-related behaviors likely contribute to bodyweight status. Summary Williams syndrome is associated with a number of core social and psychiatric difficulties which have a significant impact on functioning and quality of life. Recent work has begun to utilize a more nuanced understanding of the clinical presentations of these problems to develop interventions tailored to this unique population. However, larger trials, particularly those inclusive of a more diverse Williams syndrome population, are needed.

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

Cited by 4 publications

References 80 publications

Contrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms

Contrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms

From the Editor-in-Chief's Desk: Reflecting on Our Past and Future

Psychiatric and behavioral manifestations of Williams syndrome

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