Women Scientists Advisory WSA Anita Roberts Lecture, Dr. Karen Berman, "Williams Syndrome: A Rare View of the Path from Genes to Neural Circuits to Behavior and Back Again"

Date: Thursday, 05 30, 2019; Speaker: Dr. Karen Berman , National Institute of Mental Health; Building 10; Lipsett ; Videocast Event
Source: NIH Calendar of Events - Category: American Health Source Type: events

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AbstractTo date, little is known about sensory processing in Williams syndrome (WS) and the similarities of the sensory profile in individuals with WS compared to people with other neurodevelopmental disorders. The current review aims to consolidate available evidence on sensory processing in WS. Eighteen primary studies investigating sensory processing in individuals with WS were identified through systematic searches of electronic databases. Fourteen studies investigated hyperacusis (sound sensitivity) in WS and four papers examined broader sensory processing characteristics. A high prevalence of both hyperacusis and sen...
Source: Review Journal of Autism and Developmental Disorders - Category: Child Development Source Type: research
Williams syndrome (WS), typically characterized by hypersociability and non-social anxiety, is caused by hemideletion of ∼25 genes at chromosomal location 7q11.23. Previous evidence suggests alterations in the development of amygdala volume in children with WS compared to typically developing children. Here, we longitudinally studied the structural covariance of amygdala size with changes in gray-matter volume acros s the rest of the brain to explore development of networks from childhood/adolescence through early adulthood in WS.
Source: Biological Psychiatry - Category: Psychiatry Authors: Source Type: research
Remyelinating drug to the rescue in a Williams syndrome model, Published online: 07 May 2019; doi:10.1038/s41582-019-0201-5Remyelinating drug to the rescue in a Williams syndrome model
Source: Nature Reviews Neurology - Category: Neurology Authors: Source Type: research
In adults with Williams syndrome, the course of cognition is uneven across the cognitive profile. Their verbal functions both develop and deteriorate earlier than performance/nonverbal functions. Frequent somatic co ‐morbidities may expose to shortened life span. AbstractBackgroundWilliams syndrome (WBS) is a genetic multisystem disorder. The main symptom is borderline (intelligence quotient, IQ 70 –79) or abnormally low intelligence (IQ 
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
(American Friends of Tel Aviv University) A new Tel Aviv University study finds that gene deletion or deficiency in neurons is responsible for the abnormal hypersocial behavior associated with Williams syndrome (WS), a rare disorder affecting 1 in 10,000 people around the world.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
(Massachusetts Institute of Technology) In a study of mice, MIT neuroscientists have found that impaired myelination underlies the hypersociability seen in patients with Williams syndrome.
Source: EurekAlert! - Social and Behavioral Science - Category: International Medicine & Public Health Source Type: news
Abstract A 2-month-old male infant presented for elective repair of inguinal hernias. His preoperative medical history and physical examination were unremarkable. During induction of anesthesia, the infant sustained an adverse cardiac event. The event was characterized by tachycardia, hypotension, and massive ST-segment elevation. Despite vigorous resuscitation, spontaneous hemodynamic stability could not be achieved and extracorporeal membrane oxygenation was required. A transthoracic echocardiogram revealed severe hypoplasia of the ascending aorta. As effective cardiac function did not recover and there was evid...
Source: Annals of Cardiac Anaesthesia - Category: Anesthesiology Authors: Tags: Ann Card Anaesth Source Type: research
Publication date: Available online 15 March 2019Source: The Annals of Thoracic SurgeryAuthor(s): R. Thomas Collins, Richard D. Mainwaring, Kirstie L. MacMillen, Frank L. HanleyStructured AbstractBackgroundTo evaluate the short- and mid-term outcomes of surgical pulmonary artery reconstruction in patients with Williams syndrome.MethodsWe performed a retrospective cohort study of all patients with Williams syndrome who underwent surgical pulmonary artery reconstruction at Lucile Packard Children’s Hospital between January 2001 and May 2018.ResultsThere were 25 WS patients (52% female) who underwent pulmonary artery rec...
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
This article is protected by copyright. All rights reserved. PMID: 30811742 [PubMed - as supplied by publisher]
Source: Paediatric Anaesthesia - Category: Anesthesiology Authors: Tags: Paediatr Anaesth Source Type: research
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Source: Journal of Pediatric Endocrinology and Metabolism - Category: Endocrinology Source Type: research
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