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Cognitive and behavioral heterogeneity in genetic syndromes
(Soc Brasil PediatriaRio De Janeiro, RjBrasil, 2014)
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome
(Sociedade Brasileira de Genética, 2007-01-01)
Fluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome ...
The Effects of Oxybutynin on Urinary Symptoms in Children with Williams-Beuren Syndrome
(ELSEVIER SCIENCE INCNEW YORK, 2012)
Purpose: Williams-Beuren syndrome is a genomic disorder caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Lower urinary tract symptoms are common in children with Williams-Beuren syndrome. However, ...
Brief report: major depressive disorder with psychotic features in Williams Syndrome: a case series
(Springer, 2018)
Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic ...
Association between speech–language, general cognitive functioning and behaviour problems in individuals with Williams syndrome
(2017-07-01)
Background: Williams syndrome (WS) phenotype is described as unique and intriguing. The aim of this study was to investigate the associations between speech–language abilities, general cognitive functioning and behavioural ...
Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome
(2013-09-23)
Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on ...
Analysis of speech fluency in Williams syndrome
(Pergamon-Elsevier B.V. Ltd, 2011-11-01)
Williams syndrome (WS) is a neurodevelopmental genetic disorder, often referred as being characterized by dissociation between verbal and non-verbal abilities, although the number of studies disputing this proposal is ...
Psycholinguistic abilities of children with Williams syndrome
(Pergamon-Elsevier B.V. Ltd, 2012-05-01)
The objective of this study was to investigate the psycholinguistic abilities of children with Williams syndrome (WS) and typically developing children using the Illinois Test of Psycholinguistic Abilities (ITPA). Performance ...
Psychopathology and behavior problems in children and adolescents with Williams syndrome: Distinctive relationships with cognition
(2017-08-18)
Several studies have documented the high prevalence of psychopathology and behavior problems in Williams syndrome (WS). However, the links between cognitive development and such symptoms need further clarification. Our ...