68 Results Found

We report the case of a 15 years old girl with Williams-Beuren syndrome and atrial mixoma.

Linguistic phenotypes of individuals with Fragile X (FXS) and Williams (WS) syndromes exhibit various degrees of pragmatic impairment, involving difficulties in social communication and in adapting to conversational principles. The goal of the presen...

This study examines the link between language abilities and Theory of Mind (ToM) development in individuals with Williams Syndrome (WS) and Down Syndrome (DS). We compared the results of 16 participants with WS, aged 6.3 to 27.2 years (Mean = 15.9 ye...

Congenital amusia is defined by marked deficits in pitch perception and production. Though historically examined only in otherwise typically developing (TD) populations, amusia has recently been documented in Williams syndrome (WS), a genetic, neurod...

The aim of our study was to characterize the face recognition skills, theory of mind skills, and language skills of a single group of French participants with Williams syndrome (WS) compared to a group of participants with Down syndrome (DS). Twelve...

The sensory profile of people with Williams syndrome (WS) is characterised by atypical visual and auditory perceptions that affect their daily lives and learning. However, no research has been carried out on the haptic perception, in particular in mu...

This paper examines morphosyntactic agreement in gender and number within the spontaneous spoken discourse of Spanish-speaking adults with Williams syndrome (WS), compared to that of typically developing (TD) speakers. Data were collected through nat...

Emotion categories configure the basic semantic knowledge of the human cognitive structure. Previous studies with people with Williams syndrome (WS) investigated their ability to process basic emotions and the dimensions of emotional valences. Howeve...

Background and aims: Research on typically developing (TD) populations has shown that the home learning environment plays a significant role in cognitive development and learning, but very little is known about the home learning environment of childr...

This study examines the use of function words in adult individuals with Williams syndrome (WS) compared to typically developing (TD) speakers, focusing on spontaneous speech in Catalan and Spanish. The aim is to assess both quantitative and qualitati...

Individuals with Williams Syndrome (WS) have a specific and atypical neuropsychological profile, where language is above what is expected for their mental age, although it shows a late onset. There exists only one longitudinal study in infants younge...

Individuals with Williams syndrome (WS) are known for their interest in language and music. As producing and comprehending music and language usually involve a set of similar or comparable cognitive abilities, the music–language relationship might be...

Williams–Beuren syndrome (WS) results from the deletion of 25–27 coding genes, including elastin (ELN), on human chromosome 7q11.23. Elastin provides recoil to tissues; emphysema and chronic obstructive pulmonary disease have been linked...

Background/Objectives: Anxiety is a hallmark feature of Williams syndrome (WS), with very high prevalence rates of generalised anxiety disorder (GAD) and specific phobias in both school-aged children and adults, yet a relatively lower prevalence of s...

Background: This study analyzed spectral alterations of heart rate variability (HRV) in Williams syndrome (WS) during sleep, taking into account the multi-fractal properties of RR-interval spectra, including effects of aging and sleep structure. Meth...

Williams–Beuren syndrome (WBS) is a rare neurodevelopmental disorder that, together with a rather characteristic neurocognitive profile, presents a strong cardiovascular phenotype. The cardiovascular features of WBS are mainly related to a gene...

Williams syndrome (WS), a genetic neurodevelopmental disorder, has been taken as evidence that music and language constitute separate modules. This research focused on the linguistic component of prosody and aimed to assess whether relationships ex...

Children with fragile X syndrome and William Beuren syndrome share several socio-communicative deficits. In both populations, around 30/35% of individuals meets criteria for autism spectrum disorder on gold standard instruments. Notwithstanding, few...

Background and Objectives: Williams syndrome (WS) is a rare neurodevelopmental genetic condition traditionally described as being associated with a highly sociable behavioral profile. However, growing evidence indicates that this characterization may...

Williams syndrome (WS) is a rare genetic disorder caused by the microdeletion of chromosome 7q11.23. Cardiovascular defects (CVDs) are the leading causes of morbidity and mortality in patients with WS. The most common CVD in patients with WS is supra...

People with Williams syndrome (WS) are characterized by hyper sociability, fluency in languages, and advantageous face-processing skills, leading to the proposal of a social module. Previous studies on the mentalizing abilities of people with WS usin...

Williams–Beuren syndrome (WBS) is a rare disorder caused by a recurrent microdeletion with hallmarks of cardiovascular manifestations, mainly supra-valvular aortic stenosis (SVAS). Unfortunately, there is currently no efficient treatment. We in...

Williams Syndrome (WS) is a neurodevelopmental disorder caused by a deletion of 25–28 genes on chromosome 7 and characterized by a specific behavioral phenotype, which includes hypersociability and anxiety. Here, we examined the density of neur...

Williams Syndrome (WS) involves high rates of psychopathology across the lifespan. However, little is known about the early, longitudinal trajectory of internalising/externalising symptoms or the association between these and the family environment i...

Objective: The aim of the current study was to examine the potential relationship between sleep patterns, cortisol levels, and anxiety profiles in adolescents with Williams Syndrome (WS) compared to typically developing adolescents. Method: Thirteen...

Oxidative stress is the result of an imbalance in the redox state in a cell or a tissue. When the production of free radicals, which are physiologically essential for signaling, exceeds the antioxidant capability, pathological outcomes including oxid...

Background: Williams–Beuren syndrome (WS) is a rare, complex, congenital developmental disorder including cardiovascular manifestations, intellectual disability and a peculiar cognitive and behavior profile. Supravalvular aortic stenosis (SVAS)...

Williams syndrome (WS) is a multisystem neurodevelopmental disorder caused by a de novo hemizygous deletion of ~26 genes from chromosome 7q11.23, among them the general transcription factor II-I (GTF2I). By studying a novel murine model for the hyper...

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with...

Williams–Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a chromosomic microdeletion (7q11.23). WBS has been modeled by a mouse line having a complete deletion (CD) of the equivalent mouse locus. This model has been largely use...

Williams–Beuren Syndrome (WBS) is a rare neurodevelopmental disease caused by a microdeletion on chromosome 7 (7q11.23) and associated with behavioral disorders such as hypersociability, impaired visuospatial memory, anxiety, and motor disorder...

Background: The last decade has seen a growing number of comparative studies on adaptive profiles between individuals with autism spectrum disorder (ASD) and Williams–Beuren syndrome (WBS), showing shared and syndrome-specific adaptive trajecto...

Autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs when t...

Social interaction between the domesticated animal and the domesticator is one of the key features of the “domestication syndrome”. Recent research has identified genes in the WBSCR (Williams–Beuren syndrome control region) locus as...

Background/Objectives: this paper investigates the local vs. global visual processing preference in typically developing (TD) children, youth with Down syndrome (DS), and youth with Williams syndrome (WS). In particular, the global precedence effect...

7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams–Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral char...

Background: Noonan syndrome (NS) is a genetically heterogeneous condition within the RASopathies spectrum, with distinctive craniofacial features, congenital heart defects, short stature, and variably present developmental delay. Most cases result fr...

Sensory processing challenges are crucial yet often neglected aspects in the care of children with neurodevelopmental disorders and genetic conditions. They represent a key area of interest in neuroscience, as they significantly impact children&rsquo...

Williams syndrome (WS) is a neurodevelopmental disorder characterized by distinctive cognitive and personality profiles which also impacts various physiological systems. The syndrome arises from the deletion of about 25 genes located on chromosome 7q...

Autism spectrum disorders (ASD) are a group of complex neurodevelopmental disorders, characterized by a deficit in social interaction and communication. Many genetic variants are associated with ASD, including duplication of 7q11.23 encompassing 26–2...

This article presents a theory explaining how young adults living with Williams syndrome (WS) learn life skills through music. The article answers the question: What theory explains how young adults living with WS learn life skills through music? The...

Williams-Beuren syndrome (WBS) is caused by microdeletions of 28 genes and is characterized by cognitive disorder and hypotrophic corpus callosum (CC). Nsun5 gene, which encodes cytosine-5 RNA methyltransferase, is located in the deletion loci of WBS...

In recent years, a large population of immature neurons has been documented in the paralaminar nucleus of the primate amygdala. A substantial fraction of these immature neurons differentiate into mature neurons during postnatal development or followi...

Elastic fiber fragmentation (EFF) is a hallmark of aortic valve disease (AVD), and neovascularization has been identified as a late finding related to inflammation. We sought to characterize the relationship between early EFF and aberrant angiogenesi...

The bromodomain adjacent to the zinc finger domain 1B (BAZ1B) or Williams syndrome transcription factor (WSTF) are just two of the names referring the same protein that is encoded by the WBSCR9 gene and is among the 26–28 genes that are lost from one...

The OTUD6B and ZMIZ1 genes were recently identified as causes of syndromic intellectual disability (ID) with shared phenotypes of facial dysmorphism, distal limb anomalies, and seizure disorders. OTUD6B- and ZMIZ1-related ID are inherited in autosoma...

Oxidative stress is a condition determined by an imbalance between antioxidant and oxidative factors. Oxidative stress can have serious consequences on our organism. Indeed, it causes both necrosis and cell apoptosis, determining cellular aging, incr...

The article presents a review of the relationships between melatonin and neurodevelopmental disorders. First, the antioxidant properties of melatonin and its physiological effects are considered to understand better the role of melatonin in typical a...

Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1% of all live-born neonates. Current guidelines support the use of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) as diagno...

The neural crest hypothesis states that the phenotypic features of the domestication syndrome are due to a reduced number or disruption of neural crest cells (NCCs) migration, as these cells differentiate at their final destinations and proliferate i...