Williams syndrome | EPFL Graph Search

Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed in people with WS, with particular challenges with visual spatial tasks such as drawing. Verbal skills are relatively unaffected. Many people with WS have an outgoing personality, an openness to engaging with other people, and a happy disposition. Medical issues with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are common. Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner. The different characteristic features have been linked to the loss of specific genes. The diagnosis is typically suspected based on symptoms and confirmed by genetic testing. Interventions to support people with WS includes special education programs and various types of therapy. Surgery may be done to correct heart problems. Dietary changes or medications may be required for high blood calcium. The syndrome was first described in 1961 by New Zealander John C. P. Williams. Williams syndrome affects between one in 20,000 and one in 7,500 people at birth. Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease. The most common symptoms of Williams syndrome are heart defects and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy (failure to thrive) and low muscle tone. People with WS tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge.

Behavioral outcome of very preterm children at 5 years of age: Prognostic utility of brain tissue volumes at term-equivalent-age, perinatal, and environmental factors

Djalel Eddine Meskaldji, Laura Ioana Gui, Serafeim Loukas

ObjectivePrematurity is associated with a high risk of long-term behavioral problems. This study aimed to assess the prognostic utility of volumetric brain data at term-equivalent-age (TEA), clinical perinatal factors, and parental social economic risk in ...

WILEY2023

eNAMPT actions through nucleus accumbens NAD + /SIRT1 link increased adiposity with sociability deficits programmed by peripuberty stress

Johan Auwerx, Maria del Carmen Sandi Perez, Jocelin Grosse, Olivia Zanoletti, Simone Astori, João Pedro de Matos Rodrigues, Ioannis Zalachoras, Wei Huang, Sriparna Ghosal, Laia Morato Fornaguera, Lei Cao

Obesity is frequently associated with impairments in the social domain, and stress at puberty can lead to long-lasting changes in visceral fat deposition and in social behaviors. However, whether stress-induced changes in adipose tissue can affect fat-to-b ...

2022

Neural Compensation Mechanisms of Siblings of Schizophrenia Patients as Revealed by High-Density EEG

Michael Herzog, Maya Roinishvili, Ophélie Gladys Favrod, Patricia Figueiredo, Albulena Jashari-Shaqiri

Visual backward masking (VBM) deficits are candidate endophenotypes of schizophrenia indexing genetic liability of the disorder. In VBM, a target is followed by a mask that deteriorates target perception. Schizophrenia patients and, to a lesser extent, the ...

2020