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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The behavioral phenotype of Williams syndrome (WS) is characterized by difficulties with establishment and maintenance of friendships despite high levels of interest in social interaction. Here, parents and teachers rated 84 children with WS ages 4-16 years using two commonly-used measures assessing aspects of social functioning: the Social Skills Rating System and the Social Responsiveness Scale. Mean prosocial functioning fell in the low average to average range, whereas social reciprocity was perceived to be an area of significant difficulty for many children. Concordance between parent and teacher ratings was high. Patterns of social functioning are discussed. Findings highlight the importance of parsing the construct of social skills to gain a nuanced understanding of the social phenotype in WS.
J Autism Dev Disord 2011 Mar
PMID:Honing in on the social phenotype in Williams syndrome using multiple measures and multiple raters. 2061 73

Williams syndrome (WS) is associated with an unusual profile of anxiety, characterised by increased rates of non-social anxiety but not social anxiety (Dodd and Porter, J Ment Health Res Intellect Disabil 2(2):89-109, 2009). The present research examines whether this profile of anxiety is associated with an interpretation bias for ambiguous physical, but not social, situations. Sixteen participants with WS, aged 13-34 years, and two groups of typically developing controls matched to the WS group on chronological age (CA) and mental age (MA), participated. Consistent with the profile of anxiety reported in WS, the WS group were significantly more likely to interpret an ambiguous physical situation as threatening than both control groups. However, no between-group differences were found on the ambiguous social situations.
J Autism Dev Disord 2011 Mar
PMID:Interpretation of ambiguous situations: evidence for a dissociation between social and physical threat in williams syndrome. 2070 Jun 39

Dlx homeobox genes play a crucial role in the migration and differentiation of the subpallial precursor cells that give rise to various subtypes of gamma-aminobutyric acid (GABA)-expressing neurons of the forebrain, including local-circuit cortical interneurons. Aberrant development of GABAergic interneurons has been linked to several neurodevelopmental disorders, including epilepsy, schizophrenia, Rett syndrome and autism. Here, we report in mice that a single-nucleotide polymorphism (SNP) found in an autistic proband falls within a functional protein binding site in an ultraconserved cis-regulatory element. This element, I56i, is involved in regulating Dlx5/Dlx6 homeobox gene expression in the developing forebrain. We show that the SNP results in reduced I56i activity, predominantly in the medial and caudal ganglionic eminences and in streams of neurons tangentially migrating to the cortex. Reduced activity is also observed in GABAergic interneurons of the adult somatosensory cortex. The SNP affects the affinity of Dlx proteins for their binding site in vitro and reduces the transcriptional activation of the enhancer by Dlx proteins. Affinity purification using I56i sequences led to the identification of a novel regulator of Dlx gene expression, general transcription factor 2 I (Gtf2i), which is among the genes most often deleted in Williams-Beuren syndrome, a neurodevelopmental disorder. This study illustrates the clear functional consequences of a single nucleotide variation in an ultraconserved non-coding sequence in the context of developmental abnormalities associated with disease.
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PMID:An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain. 2070 65

Individuals with autism spectrum disorders (ASD) are impaired in understanding the emotional undertones of speech, many of which are communicated through prosody. Musical performance also employs a form of prosody to communicate emotion, and the goal of this study was to examine the ability of adolescents with ASD to understand musical emotion. We designed an experiment in which each musical stimulus served as its own control while we varied the emotional expressivity by manipulating timing and amplitude variation. We asked children and adolescents with ASD and matched controls as well as individuals with Williams syndrome (WS) to rate how emotional these excerpts sounded. Results show that children and adolescents with ASD are impaired relative to matched controls and individuals with WS at judging the difference in emotionality among the expressivity levels. Implications for theories of emotion in autism are discussed in light of these findings.
Autism Res 2010 Oct
PMID:Perception of emotion in musical performance in adolescents with autism spectrum disorders. 2071 52

Williams syndrome is a neurodevelopmental disorder caused by a deletion on chromosome 7. It is characterized by a range of medical problems in addition to severe impairments in visuospatial processing and oversensitivity to sounds, including hypersensitivity to sounds (hyperacusis) and extreme fear from sounds (phonophobia). In spite of impairments in visuospatial processing, object and face processing abilities are relatively preserved in WS.The present review discusses the growing research in the field linking the unique sensory phenotype in WS with underlying structural and functional brain abnormalities. In addition, possible associations between the genetic defect and the abnormal sensory processing are presented. Because Williams syndrome is etiologically homogeneous, it may serve as a model to promote understanding of visuospatial and auditory processing in humans. The findings may also have important implications for other developmental psychopathologies, such as autism, schizophrenia and attention deficit hyperactivity disorder.
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PMID:Auditory and visual processing in Williams syndrome. 2073 55

Two neurodevelopmental disorders, Williams syndrome (WS) and autism, are both commonly described as having opposite social profiles: social avoidance in autism vs hypersociability in individuals with WS. The goal of this study was to contrast the brain activity associated with language processing in these two populations, in order to understand the very likely interplay between the use of language and the sociability dimension, on which these disorders diverge. Towards this aim, the N400 component of the event-related potentials was used to quantify the processing of semantic integration in these two populations. Results revealed that individuals with WS showed a significantly larger N400 effect, as compared to both typical controls and individuals with autism, while the latter group demonstrated the smallest N400 effect. The findings demonstrate quite opposite profiles of neural correlates of language processing in WS and autism, mirroring their contrasting social phenotypes.
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PMID:Contrasting patterns of language-associated brain activity in autism and Williams syndrome. 2080 91

This article reviews the behavioral literature on the control of goal-directed aiming and presents a multiple-process model of limb control. The model builds on recent variants of Woodworth's (1899) two-component model of speed-accuracy relations in voluntary movement and incorporates ideas about dynamic online limb control based on prior expectations about the efferent and afferent consequences of a planned movement. The model considers the relationship between movement speed and accuracy, and how performers adjust their trial-to-trial aiming behavior to find a safe, but fast, zone for movement execution. The model also outlines how the energy and safety costs associated with different movement outcomes contribute to movement planning processes and the control of aiming trajectories. Our theoretical position highlights the importance of advance knowledge about the sensory information that will be available for online control and the need to develop a robust internal representation of expected sensory consequences. We outline how early practice contributes to optimizing strategic planning to avoid worst-case outcomes associated with inherent neural-motor variability. Our model considers the role of both motor development and motor learning in refining feed-forward and online control. The model reconciles procedural and representational accounts of the specificity-of-learning phenomenon. Finally, we examine the breakdown of perceptual-motor precision in several special populations (i.e., Down syndrome, Williams syndrome, autism spectrum disorder, normal aging) within the framework of a multiple-process approach to goal-directed aiming.
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PMID:Goal-directed aiming: two components but multiple processes. 2082 9

The current study investigated whether contrasting face recognition abilities in autism and Williams syndrome could be explained by different spatial frequency biases over developmental time. Typically-developing children and groups with Williams syndrome and autism were asked to recognise faces in which low, middle and high spatial frequency bands were masked. All three groups demonstrated a gradual specialisation toward the mid-band. However, while the use of high spatial frequencies decreased in control and autism groups over development, the Williams syndrome group did not display a bias toward this band at any point. These data demonstrate that typical outcomes can be achieved through atypical developmental processes, and confirm the importance of cross-syndrome studies in the investigation of developmental disorders.
J Autism Dev Disord 2011 Jul
PMID:Developing spatial frequency biases for face recognition in autism and Williams syndrome. 2094 55

Well-documented Romance-Germanic differences in the use of accent in speech to convey information-structure and focus cause problems for the assessment of prosodic skills in populations with clinical disorders. The strategies for assessing the ability to use lexical and contrastive accent in English and Spanish are reviewed, and studies in the expression of contrastive accent in Spanish- and English-speaking typically-developing children are described. These studies used similar tasks requiring pre-final contrastive accent. Results were, however, strikingly different (English > Spanish). Using the same tasks, studies of English-speaking individuals with autism and Williams syndrome showed marked difficulty with the expression of contrastive stress, but the use of such tasks with Spanish speakers may merely reflect cross-linguistic differences. This study presents the methodology and results of these tasks, and suggests alternative methods of assessing the ability to discern and use contrastive accents in Spanish.
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PMID:Cross-linguistic expression of contrastive accent: Clinical assessment in Spanish and English. 2096 12

This article provides a summary of the proceedings of the Neurodevelopmental Conditions Study Group charrette held on May 21-22, 2007, in Atlanta, Georgia (USA) and underwritten by the Developmental Disabilities Branch of the U.S. Centers for Disease Control and Prevention and the National Institute for Disability and Rehabilitation Research. The charrette was a part of the conference on "State of the Science in Aging with Developmental Disabilities: Charting Lifespan Trajectories and Supportive Environments for Healthy Living." The aim of the charrette was to examine the extant knowledge on aging-related long-term effects and interactions of a number of neurodevelopmental conditions, including autism, cerebral palsy, Down syndrome, fragile X syndrome, Prader-Willi syndrome, spina bifida, and Williams syndrome. The discussants noted that although there is some published information regarding lifespan changes with these disorders, especially cerebral palsy and Down syndrome, there is a lack of confirming evidence for most of these conditions and concluded that additional evidence-based research and investigatory clinical work are needed to better understand the long-term effects of maturation and aging upon adults with these conditions. Primary recommendations included a call for more work toward the identification and description of the presentations and courses of age-related medical disorders that are common among these conditions; determination of the comparative prevalence and incidence of specific medical conditions between persons with neurodevelopmental disabilities and the general population; use of prevalence and incidence data to better understand risk factors for concomitant conditions; promotion of surveillance, screening, and specific treatment protocols for health provision; institution of a program of translational collaborative research related to older-age associated conditions; and dissemination of information related to aging and health to providers and people affected by these conditions.
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PMID:Neurodevelopmental conditions and aging: report on the Atlanta Study Group Charrette on Neurodevelopmental Conditions and Aging. 2112 18


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