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"williams syndrome"

Valentina Decimi, Grazia Fazio, Fabiola Dell'Acqua, Silvia Maitz, Marta Galbiati, Carmelo Rizzari, Andrea Biondi, Giovanni Cazzaniga, Angelo Selicorni
Williams syndrome (WBS) is a rare neurodevelopmental disorder with specific phenotypic characteristics and cardiac abnormalities, but is not considered as a cancer predisposing condition. However, in rare cases, malignancies have been described in patients with WBS, with hematologic cancer (mainly Burkitt Lymphoma and Acute Lymphoblastic Leukemia) as the most represented. We report here the case of a boy with WS and B-NHL. This is the unique case within the large cohort of patients (n = 117) followed in our institution for long time (mean clinical follow-up, 13 years)...
October 19, 2016: European Journal of Medical Genetics
Rowena Ng, Ursula Bellugi, Anna Järvinen
BACKGROUND: Williams syndrome (WS) is a genetic condition characterized by an unusual "hypersocial" personality juxtaposed by high anxiety. Recent evidence suggests that autonomic reactivity to affective face stimuli is disorganised in WS, which may contribute to emotion dysregulation and/or social disinhibition. METHODS: Electrodermal activity (EDA) and mean interbeat interval (IBI) of 25 participants with WS (19 - 57 years old) and 16 typically developing (TD; 17-43 years old) adults were measured during a passive presentation of affective face and voice stimuli...
October 5, 2016: Research in Developmental Disabilities
R Royston, P Howlin, J Waite, C Oliver
Individuals with specific genetic syndromes associated with intellectual disability (ID), such as Williams syndrome (WS), are at increased risk for developing anxiety disorders. A systematic literature review identified sixteen WS papers that could generate pooled prevalence estimates of anxiety disorders for WS. A meta-analysis compared these estimates with prevalence estimates for the heterogeneous ID population and the general population. Estimated rates of anxiety disorders in WS were high. WS individuals were four times more likely to experience anxiety than individuals with ID, and the risk was also heightened compared to the general population...
September 30, 2016: Journal of Autism and Developmental Disorders
Yukako Muramatsu, Yoshihito Tokita, Seiji Mizuno, Miho Nakamura
BACKGROUND: Williams syndrome (WS) is known for its uneven cognitive abilities, especially the difficulty in visuo-spatial cognition, though there are some inter-individual phenotypic differences. It has been proposed that the difficulty in visuo-spatial cognition of WS patients can be attributed to a haploinsufficiency of some genes located on the deleted region in 7q11.23, based on an examination of atypical deletions identified in WS patients with atypical cognitive deficits. According to this hypothesis, the inter-individual differences in visuo-spatial cognitive ability arise from variations in deletion...
September 29, 2016: Brain & Development
E K Farran, S Formby, F Daniyal, T Holmes, J Van Herwegen
BACKGROUND: Successful navigation is crucial to everyday life. Individuals with Williams syndrome (WS) have impaired spatial abilities. This includes a deficit in spatial navigation abilities such as learning the route from A to B. To-date, to determine whether participants attend to landmarks when learning a route, landmark recall tasks have been employed after the route learning experience. Here, we combined virtual reality and eye tracking technologies, for the first time, to measure landmark use in typically developing (TD) children and participants with WS during route-learning...
October 2016: Journal of Intellectual Disability Research: JIDR
Deborah M Riby, Melanie A Porter
No abstract text is available yet for this article.
October 2016: Journal of Intellectual Disability Research: JIDR
Giacomo Vivanti, Darren R Hocking, Peter Fanning, Cheryl Dissanayake
BACKGROUND: Children with autism spectrum disorder (ASD) and those with Williams syndrome (WS) have difficulties with learning, though the nature of these remains unclear. METHODS: In this study, we used novel eye-tracking and behavioral paradigms to measure how 36 preschoolers with ASD and 21 age- and IQ-matched peers with WS attend to and learn novel behaviors (1) from the outcomes of their own actions (non-social learning), (2) through imitation of others' actions (social learning), and across situations in which imitative learning served either an instrumental function or fulfilled social affiliation motives...
2016: Molecular Autism
E Van Den Heuvel, E Manders, A Swillen, I Zink
BACKGROUND: This study aimed to compare developmental courses of structural and pragmatic language skills in school-aged children with Williams syndrome (WS) and children with idiopathic intellectual disability (IID). Comparison of these language trajectories could highlight syndrome-specific developmental features. METHOD: Twelve monolingual Dutch-speaking children with WS aged 5.10 to 13.3 years were assessed by means of standardised structural language tests measuring receptive and expressive vocabulary and sentence comprehension and production...
October 2016: Journal of Intellectual Disability Research: JIDR
J Heiz, K Barisnikov
BACKGROUND: Williams syndrome (WS) is characterised by severe deficits in visual-spatial abilities in contrast to relatively well-developed language abilities. There is very limited knowledge about visual-motor integration (VMI) in people with WS. METHOD: Twenty-six participants with WS aged 6 to 41 years were assessed with all three tests of the Beery-VMI test, namely the VMI test, the visual perception test (VP) and the motor coordination test (MC). Their results were compared with those of 154 typically developing children (TD) aged 4 to 12...
October 2016: Journal of Intellectual Disability Research: JIDR
C H Pitts, B P Klein-Tasman, J W Osborne, C B Mervis
BACKGROUND: Specific phobia (SP) is the most common anxiety disorder among children with Williams syndrome (WS); prevalence rates derived from Diagnostic and Statistical Manual of Mental Disorders-based diagnostic interviews range from 37% to 56%. We evaluated the effects of gender, age, intellectual abilities and/or behaviour regulation difficulties on the likelihood that a child with WS would be diagnosed with SP. METHODS: A total of 194 6-17 year-olds with WS were evaluated...
October 2016: Journal of Intellectual Disability Research: JIDR
Marina A Pavlova, Julie Heiz, Alexander N Sokolov, Koviljka Barisnikov
Many neurological, neurodevelopmental, neuropsychiatric, and psychosomatic disorders are characterized by impairments in visual social cognition, body language reading, and facial assessment of a social counterpart. Yet a wealth of research indicates that individuals with Williams syndrome exhibit remarkable concern for social stimuli and face fascination. Here individuals with Williams syndrome were presented with a set of Face-n-Food images composed of food ingredients and in different degree resembling a face (slightly bordering on the Giuseppe Arcimboldo style)...
2016: Frontiers in Psychology
I R Hussein, A Magbooli, E Huwait, A Chaudhary, R Bader, M Gari, F Ashgan, M Alquaiti, A Abuzenadah, M AlQahtani
BACKGROUND: Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic features, cardiovascular defects, cognitive deficits and developmental delay. WBS is caused by a segmental aneuploidy of chromosome 7 due to heterozygous deletion of contiguous genes at the long arm of chromosome 7q11.23. We aimed to apply array-CGH technique for the detection of copy number variants in suspected WBS patients and to determine the size of the deleted segment at chromosome 7q11...
2016: Molecular Cytogenetics
Ronnie Weinberger, James Yi, Monica Calkins, Yael Guri, Donna M McDonald-McGinn, Beverly S Emanuel, Elaine H Zackai, Kosha Ruparel, Miri Carmel, Elena Michaelovsky, Abraham Weizman, Ruben C Gur, Raquel E Gur, Doron Gothelf
The 22q11.2 deletion syndrome (22q11DS) is associated with increased rates of psychotic disorders and cognitive deficits, but large scale studies are needed to elucidate their interaction. The objective of this two-center study was to identify the neurocognitive phenotype of individuals with 22q11DS and psychotic disorders. We hypothesized that psychotic 22q11DS individuals compared to nonpsychotic deleted individuals would have more severe neurocognitive deficits, especially in executive function and social cognition...
October 2016: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
Joanne S Camp, Annette Karmiloff-Smith, Michael S C Thomas, Emily K Farran
BACKGROUND: Individuals with neurodevelopmental disorders like Williams syndrome and Down syndrome exhibit executive function impairments on experimental tasks (Lanfranchi, Jerman, Dal Pont, Alberti, & Vianello, 2010; Menghini, Addona, Costanzo, & Vicari, 2010), but the way that they use executive functioning for problem solving in everyday life has not hitherto been explored. The study aim is to understand cross-syndrome characteristics of everyday executive functioning and problem solving...
August 10, 2016: Research in Developmental Disabilities
Caroline Horton Lew, Chelsea Brown, Ursula Bellugi, Katerina Semendeferi
Williams Syndrome (WS) is a rare neurodevelopmental disorder associated with a hemideletion in chromosome 7, which manifests a distinct behavioral phenotype characterized by a hyperaffiliative social drive, in striking contrast to the social avoidance behaviors that are common in Autism Spectrum Disorder (ASD). MRI studies have observed structural and functional abnormalities in WS cortex, including the prefrontal cortex (PFC), a region implicated in social cognition. This study utilizes the Bellugi Williams Syndrome Brain Collection, a unique resource that comprises the largest WS postmortem brain collection in existence, and is the first to quantitatively examine WS PFC cytoarchitecture...
August 13, 2016: Autism Research: Official Journal of the International Society for Autism Research
Thanathom Chailangkarn, Cleber A Trujillo, Beatriz C Freitas, Branka Hrvoj-Mihic, Roberto H Herai, Diana X Yu, Timothy T Brown, Maria C Marchetto, Cedric Bardy, Lauren McHenry, Lisa Stefanacci, Anna Järvinen, Yvonne M Searcy, Michelle DeWitt, Wenny Wong, Philip Lai, M Colin Ard, Kari L Hanson, Sarah Romero, Bob Jacobs, Anders M Dale, Li Dai, Julie R Korenberg, Fred H Gage, Ursula Bellugi, Eric Halgren, Katerina Semendeferi, Alysson R Muotri
Williams syndrome is a genetic neurodevelopmental disorder characterized by an uncommon hypersociability and a mosaic of retained and compromised linguistic and cognitive abilities. Nearly all clinically diagnosed individuals with Williams syndrome lack precisely the same set of genes, with breakpoints in chromosome band 7q11.23 (refs 1-5). The contribution of specific genes to the neuroanatomical and functional alterations, leading to behavioural pathologies in humans, remains largely unexplored. Here we investigate neural progenitor cells and cortical neurons derived from Williams syndrome and typically developing induced pluripotent stem cells...
August 18, 2016: Nature
Emma Lough, Marisa H Fisher
The current study took a multi-informant approach to compare parent to self-report ratings of social vulnerability of adults with Williams syndrome (WS). Participants included 102 pairs of adults with WS and their parents. Parents completed the Social Vulnerability Questionnaire and adults with WS completed an adapted version of the questionnaire. Parents consistently reported higher levels of social vulnerability for their son/daughter than the individual with WS reported, with the exception of emotional abuse...
November 2016: Journal of Autism and Developmental Disorders
K J Goldman, J A Burack, C Shulman
BACKGROUND: Despite high levels of social engagement, the social competence of individuals with Williams syndrome (WS) is frequently compromised. This descriptive study explores the ability of young people with WS to learn from facial expressions when provided as a source of feedback for their actions. METHOD: Using a novel task, the ability to interpret facial expressions and adapt behaviour after receiving feedback in the form of happy or angry faces was assessed in 12 participants with WS aged between 10 and 28 years and with a mean nonverbal mental age of 6...
October 2016: Journal of Intellectual Disability Research: JIDR
Dean D'Souza, Hana D'Souza, Mark H Johnson, Annette Karmiloff-Smith
Typically-developing (TD) infants can construct unified cross-modal percepts, such as a speaking face, by integrating auditory-visual (AV) information. This skill is a key building block upon which higher-level skills, such as word learning, are built. Because word learning is seriously delayed in most children with neurodevelopmental disorders, we assessed the hypothesis that this delay partly results from a deficit in integrating AV speech cues. AV speech integration has rarely been investigated in neurodevelopmental disorders, and never previously in infants...
August 2016: Infant Behavior & Development
A Berencsi, F Gombos, I Kovács
BACKGROUND: Individuals with Williams syndrome (WS) are known to have difficulties in carrying out fine motor movements; however, a detailed behavioural profile of WS in this domain is still missing. It is also unknown how great the capacity to improve these skills with focused and extensive practice is. METHOD: We studied initial performance and learning capacity in a sequential finger tapping (FT) task in WS and in typical development. Improvement in the FT task has been shown to be sleep dependent...
October 2016: Journal of Intellectual Disability Research: JIDR
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