Williams Syndrome

10 Key excerpts on "Williams Syndrome"

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  eBook - ePub

  Encyclopedia of Language Development

  • Patricia J. Brooks, Vera Kempe, Patricia J. Brooks, Vera Kempe(Authors)
  • 2014(Publication Date)
  • SAGE Publications, Inc

    (Publisher)

  W

  Williams Syndrome and Language Development

  Williams Syndrome (WS) is a rare genetic disorder (around 1 in 20,000 live births) characterized by learning disabilities and an uneven cognitive profile. It is relevant to theories of language development because language acquisition is a relative strength in the disorder.

  In the late 1980s, it was thought that WS might demonstrate the independent genetic underpinnings of language and general cognition, that is, that language could indeed develop normally in the face of impaired general cognition. Subsequently, 25 years of research suggest that this is probably not the case. While language in WS does look impressive compared to some other developmental disorders that have particular language problems perhaps relating to poor phonology (such as Down syndrome [DS] and specific language impairment [SLI]), it is best characterized by delay, with most linguistic abilities not markedly different from overall mental age. There may be subtle patterns of atypicality, some of which may be connected with other aspects of the WS cognitive profile, including a hypersociable personality and weaknesses in visuospatial cognition. Research seeking to understand how the genetic mutation that causes WS results in the characteristic cognitive profile (via effects on brain development and cognitive development) is still ongoing.

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  Language Development In Exceptional Circumstances

  • Dorothy Bishop, K. Mogford(Authors)
  • 2013(Publication Date)
  • Psychology Press

    (Publisher)

  The Williams Syndrome disorder results in an uneven profile of cognitive abilities: linguistic performance far outstrips other cognitive domains and often appears decoupled from purported cognitive prerequisites. Co-occurring with marked cognitive deficits, the children’s expressive language is complex and often grammatically correct—an island of sparing of linguistic capacities, presenting a challenge to important theoretical models of the relationship between language and cognition. These studies of Williams Syndrome promise in the long run to provide insight into the relationship between domains of higher cortical functioning and their underlying neural substrate. Acknowledgments This research was supported in part by the National Institutes of Health, grants #NS 15175, #HD 13249, and #P50 NS22343; the March of Dimes, grants #12-169 and #1-1017; and the John D. and Catherine MacArthur Foundation Research Network. We are very grateful to the children and parents who have taken part in our studies of Williams Syndrome. In particular, we thank the Williams Syndrome Association and the families for their spirited participation in these studies.

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  Developmental Behavioral Neuroscience

  The Minnesota Symposia on Child Psychology, Volume 24

  • Megan R. Gunnar, Charles A. Nelson(Authors)
  • 2013(Publication Date)
  • Psychology Press

    (Publisher)

  6 Language, Cognition, and Brain Organization in a Neurodevelopmental Disorder

  Ursula Bellugi

  Amy Bihrle

  Helen Neville

  Sally Doherty

  The Salk Institute for Biological Studies

   

  Terry Jernigan

  San Diego VA Medical Center

  A major goal of our research is to investigate the brain mechanisms that underlie linguistic and other cognitive domains. We are involved in comprehensive studies of Williams Syndrome, a carefully selected population in which adolescents exhibit a rare fractionation of higher cortical functioning: selective preservation of complex syntax in the face of marked and severe cognitive deficits. The program of studies we have undertaken provides critical evidence bearing on the dissociability of components of language and other cognitive systems. Although it is well known that specific language deficits can exist without an accompanying cognitive deficit, the opposite pattern in which linguistic abilities are selectively spared in the face of overall cognitive deficits is rare and has been little studied. Williams Syndrome, a specific neurodevelopmental disorder, may represent a well-defined population in which this pattern of marked cognitive deficits but spared linguistic functioning is observed. This metabolic disorder which results in distinctive physical characteristics (e.g., specific facial features, heart defects) also appears to give rise to a neuropsychological profile which is highly discontinuous from normal. We address the issue of the nature of the neural substrate that supports the unusual neuropsychological functioning found in Williams Syndrome. The intensive evaluation of cognitive and linguistic capacities of such a homogeneous population of individuals affords an important opportunity to explore the interrelationships of cognitive domains and their underlying neural substrates.

  Williams Syndrome is a rare metabolic disorder (one estimate of occurrence is 1:50,000) labeled in 1961 by the British cardiologist J. C. P. Williams, who described a syndrome which includes a specific heart defect (supravalvular aortic stenosis), mental retardation, and a peculiar facial appearance (Williams, Barratt-Boyes, & Lowe, 1961). Jones and Smith (1975) documented some of the clinical features of Williams Syndrome, based on 19 cases, noting that the cluster of unusual facial characteristics of the subjects is one of the consistent features in the recognition of this sporadically occurring disorder. Typical facial features include a broad forehead, medial eyebrow flare, depressed nasal bridge, a stellate pattern in the iris, widely spaced teeth, and full lips. Williams Syndrome subjects also tend to have low birth weight, digestive disorders in infancy, apparent auditory sensitivity, mild microcephaly, and developmental delays. The syndrome has been associated with levels of calcium and abnormal levels of calcitonin (Culler, Jones, & Deftos, 1985; Jones, in press). Figure 6.1

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  Williams Syndrome

  A Special Double Issue of developmental Neuropsychology

  • Carolyn B. Mervis(Author)
  • 2018(Publication Date)
  • Routledge

    (Publisher)

  Williams Syndrome: 15 Years of Psychological Research

  Carolyn Β. Mervis University of Louisville

  Williams Syndrome is a rare genetic disorder caused by a microdeletion of about 20 genes on chromosome 7q11 .23. The importance of this syndrome for theories and models of cognition became apparent about 15 years ago, when Bellugi, Sabo, and Vaid f 1988) argued that Williams Syndrome was a paradigm case of the independence of language from cognition. In particular, it was argued that individuals with Williams Syndrome have "intact" language despite severe mental retardation. More recent findings indicate a more complex relation between language and characteristics associated with this syndrome. The articles in this special issue form 3 overlapping clusters: articles concerned with language development relative to cognitive development, articles concerned with other aspects of cognition, and articles concerned with interpersonal relations and personality. Together, these articles provide strong evidence of the importance of the study of neurodevelopmental genetic disorders for enhancing understanding of the complex manner in which initial genetic differences impact both behavior and processing strategies from infancy through adulthood. Our hope is that this issue will motivate further studies, informed by the genetic-developmental approach, on both Williams Syndrome and other neurodevelopmental genetic disorders.

  Williams Syndrome is a rare developmental disorder associated with mild to moderate mental retardation or (less frequently) learning disabilities. Fifteen years ago, the cause of Williams Syndrome was unknown; it had not yet been determined even that the syndrome had a genetic basis. Diagnosis was extremely difficult; many geneticists had never knowingly seen a case of Williams Syndrome. Nevertheless, a single chapter published in 1988 (Bellugi, Sabo, & Vaid, 1988), along with conference presentations and reports of conference presentations of this study and its sequels, eventually motivated an increasingly large group of behavioral researchers to devote considerable resources to studying individuals who have Williams Syndrome. The initial findings of Bellugi et al. (1988) attracted the attention of the National Institutes of Health as well, leading to a conference in 1991 and a Request for Applications by the National Institute for Neurological Disorders and Stroke (NINDS) for proposals on Williams Syndrome soon thereafter. Why all this attention to such a rare and difficult-to-diagnose syndrome? What was the message of the 1988 paper and related conference presentations and reports of conference presentations?

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  International Review of Research in Mental Retardation

  Language and Communication in Mental Retardation

  • Laraine Masters Glidden(Author)
  • 2003(Publication Date)
  • Academic Press

    (Publisher)

  Language Abilities of Individuals with Williams Syndrome CAROLYN B. MERVIS DEPARTMENT OF PSYCHOLOGICAL AND BRAIN SCIENCES, UNIVERSITY OF LOUISVILLE, LOUISVILLE, KENTUCKY BYRON F. ROBINSON DEPARTMENT OF PSYCHOLOGICAL AND BRAIN SCIENCES, GEORGIA STATE UNIVERSITY, ATLANTA, GEORGIA MELISSA L. ROWE and ANGELA M. BECERRA DEPARTMENT OF PSYCHOLOGICAL AND BRAIN SCIENCES, UNIVERSITY OF LOUISVILLE, LOUISVILLE, KENTUCKY BONITA P. KLEIN-TASMAN DEPARTMENT OF PSYCHOLOGY, UNIVERSITY OF WISCONSIN-MILWAUKEE, MILWAUKEE, WISCONSIN I. INTRODUCTION Williams Syndrome is a neurodevelopmental disorder characterized by a distinctive pattern of dysmorphic facial features, cardiovascular disease, connective tissue abnormalities, delayed development leading to mental retardation or learning disabilities, a specific cognitive profile, and an unusual personality profile. The syndrome usually occurs sporadically, with an incidence of 1 in 20,000 live births in all ethnic groups. Williams Syndrome is caused by a hemizygous 1.5 megabase microdeletion of chro-mosome 7q11.23 (Ewart et al., 1993). So far, 17 genes have been mapped to the deleted region (Osborne et al., 2001). More than 98% of individuals with INTERNATIONAL REVIEW OF RESEARCH IN 35 Copyright ß 2003 by Elsevier, Inc. MENTAL RETARDATION, Vol. 27 All rights of reproduction in any form reserved. 0074-7750/2003 $35.00 Williams Syndrome have the same deletion breakpoints; the resulting deletion is referred to as the ‘‘classic’’ or ‘‘common’’ Williams Syndrome deletion (Morris & Mervis, 2000). The importance, from a theoretical perspective, of research on language and cognitive aspects of Williams Syndrome was first made clear by Ursula Bellugi, who argued that Williams Syndrome was a paradigmatic example of the independence of language and cognition.

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  The Cambridge Handbook of Communication Disorders

  • Louise Cummings(Author)
  • 2013(Publication Date)
  • Cambridge University Press

    (Publisher)

  Developmental disorders provide a naturalis- tic way of testing the relation between the biological (and psychological) basis of language and the biological (and psychological) basis of other cognitive or neural systems (Marcus and Rabagliati 2006). Two syndromes which have attracted more interest than others are Williams Syndrome (WS) and Down’s syndrome (DS). There are a number of reasons for this. The foremost reason is the fact that affected individ- uals present with uneven, and qualitatively different, profiles of cognitive abilities within the context of similar IQ levels (~40 to 60; Udwin and Yule 1991; Roizen 2002). In DS, relatively good visuospatial abilities con- trast with poor expressive language skills (Fowler et al. 1994; Rondal and Comblain 1996; Chapman et al. 1998; Klein and Mervis 1999; Jarrold et al. 2002; Laws 2002). Individuals with WS display relatively good expressive language abilities and poor visuospatial abilities (Bellugi et al. 1994; Grant et al. 1997; Howlin et al. 1998). Within the context of language abilities, the two populations also show uneven profiles. Syntactic abilities are a relative weakness in DS but a relative strength in WS (Bellugi et al. 2000). Expressive prosodic skills, which are a relative weakness in DS (Pettinato and Verhoeven 2009; Stojanovik 2011), are relatively unimpaired in WS as they are in line with level of language comprehension (Stojanovik et al. 2007). Finally, pragmatic aspects of language are impaired in the context of WS (Laws and Bishop 2004; Stojanovik 2006), but are a relative strength for those with DS (Laws and Bishop 2004). Each of these syndromes will be reviewed separately below. 29.4.1 Williams Syndrome Williams Syndrome is a relatively rare genetic condition which was first identified in 1961 by Williams and his colleagues in New Zealand (Williams et al. 1961). They labelled the syndrome following a clinical study of four patients with mental retardation and a peculiar facial appearance.

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  Origins of Language Disorders

  A Special Issue of developmental Neuropsychology

  • Donna J. Thal, Judith S. Reilly(Authors)
  • 2014(Publication Date)
  • Psychology Press

    (Publisher)

  Contrasting Profiles of Language Development in Children With Williams and Down Syndromes Naomi G. Singer Harris

  San Diego State UniversityThe Salk Institute for Biological StudiesLaboratory for Cognitive Neuroscience

  Ursula Bellugi

  The Salk Institute for Biological StudiesLaboratory for Cognitive Neuroscience

  Elizabeth Bates

  University of California, San Diego

  Wendy Jones and Michael Rossen

  The Salk Institute for Biological StudiesLaboratory for Cognitive Neuroscience

  We describe language acquisition in two distinct genetically based syndromes. Parents of children with Williams Syndrome (WMS) and Down syndrome (DNS) were given the MacArthur Communicative Development Inventory (CDI), a parental report measure of child language development. Although both groups of children were found to be equally delayed according to normative standards, differential patterns of language acquisition emerged. Early in language development, the groups were differentiated primarily by a proclivity for gesture production by the children with DNS. Later in language development, the groups were cleaved by grammatical development: Children with WMS displayed a significant advantage over children with DNS. These findings are striking given the marked differences observed between adolescents and adults with WMS and DNS: Individuals with WMS exhibit linguistic skills superior to those of matched DNS controls despite significant but comparable cognitive deficits.

  Williams Syndrome (WMS), a genetically based neurodevelopmental disorder, is characterized by a unique neuropsychological profile in which language appears to “decouple” from other higher cognitive functions (Bellugi, Bihrle, Jernigan, Trauner, & Doherty, 1990; Bellugi, Bihrle, Neville, Jernigan, & Doherty, 1992; Bellugi, Wang, & Jernigan, 1994; Karmiloff-Smith, Klima, Bellugi, Grant, & Baron-Cohen, 1995; Mervis & Bertrand, in press; Wang & Bellugi, 1993). Despite average IQ scores ranging from 50 to 70, adolescents and adults with WMS display surprisingly good mastery of complex linguistic structures, as compared to Down syndrome (DNS) individuals matched for age and IQ. Furthermore, individuals with WMS have profound spatial cognitive deficits that exceed their levels of general cognitive impairment; a notable exception to this is their relatively unimpaired performance on tests of facial recognition (Bellugi et al., 1992, 1994; Jones, Singer, Rossen, & Bellugi, 1993). In addition, individuals with WMS tend to be quite sociable and affectively expressive (Reilly, Klima, & Bellugi, 1991; Udwin & Yule, 1990). These factors all contribute to a highly unusual neuropsychological profile exhibiting peaks and valleys in domains of higher cognitive functioning.

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  Developmental Disorders of the Brain

  • Nicole J. Rinehart, John L. Bradshaw, Peter G. Enticott(Authors)
  • 2016(Publication Date)
  • Psychology Press

    (Publisher)

  16 Williams Syndrome Darren R. Hocking DOI: 10.4324/9781315692289-16

  Introduction

  Williams Syndrome (WS) is a rare genetically based developmental disorder with a unique cognitive and behavioural profile. At the cognitive level, individuals with WS commonly have mild to moderate intellectual disability with relative strengths in language, short-term verbal memory and face processing accompanied by more profound weaknesses in visuospatial construction, drawing, number processing and visuomotor integration (Hocking et al., 2008 ; Mervis, et al., 2000 ). Behaviourally, individuals with WS are described as overly friendly, gregarious, empathic, with a profile of indiscriminant social drive or “hypersociability”, but with difficulties in interpreting social cues and norms, alongside increased inattention, distractibility and nonsocial anxiety (Morris, 2010 ). At the neural level, there is increasing evidence for widespread brain abnormalities including: anomalous activation of frontostriatal regions that may relate to problems in suppression of inappropriate social behaviours (Mobbs et al., 2007 ); structural abnormalities in cortico-striatal-thalamo-cerebellar circuits linked to increased inattention and hyperactivity symptoms (Campbell et al., 2009 ) and reduced volume and connectivity in posterior parietal areas (dorsal visual stream) supporting visuospatial and visuomotor functions (Hoeft et al., 2007 ; Meyer-Lindenberg et al., 2004 ).

  Despite its rarity, the intense study of WS has its roots in the theoretical debate about modularity of domain-specific abilities in developmental disorders (i.e. independence of language from cognition), which could be shown to dissociate in cases of adult neuropsychological patients. This view of uneven cognitive profiles that remain static and rely solely on the end state (nativist, modular view) has been largely challenged by the research examining developmental trajectories across several domains in WS that emphasise dynamic processes that shape the uneven profile over developmental time (Karmiloff-Smith, 2009

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  Multilingual Perspectives on Child Language Disorders

  • Janet L. Patterson, Barbara L. Rodríguez, Janet L. Patterson, Barbara L. Rodríguez(Authors)
  • 2016(Publication Date)
  • Multilingual Matters

    (Publisher)

  et al . (2001) reported that a group of individuals with WS (which included both children and adults) had slightly lower performance on a phoneme deletion task compared to a group of reading-age-matched controls; although the WS group also had lower mean performance on all other phonological awareness tasks, this difference was not reliable. The individuals with WS also found it harder to read non-words than real words.

  Language, Communication/Social Interaction Patterns and Literacy Among Children with Williams Syndrome Who Speak Languages Other than English

  There have been studies on individuals with WS speaking a number of different languages, including Romance (French, Italian, Spanish, Portuguese), Germanic (German), Greek, Uralic (Hungarian) and Semitic (Hebrew). There have also been a few published cross-linguistic studies which compare individuals with WS with different native languages on specific linguistic phenomena. Research on literacy in children with WS speaking languages other than English is more limited and currently only includes studies on Spanish, Italian and Hebrew. This part of the chapter will provide a summary of a number of studies conducted with individuals with WS speaking languages other than English and a critical review of the implications of the findings for our understanding of the WS phenotype.

  Although research into language and communication/interaction skills in children with WS speaking languages other than English is relatively recent, this type of research is essential for two main reasons: firstly, to establish which patterns may be syndrome specific and which may be language specific; secondly, to evaluate the significance of the theoretical advances made by studying the syndrome based on English. With regard to the latter, different studies have shown that WS provides evidence for the neural specialization of cognitive functions from birth (innate modularity), or that WS offers evidence of how the subtle changes in the brain structure and function interact with genes and the environment to produce the specific phenotype (neuroconstructivist view) (Stojanovik, 2011).

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  Research Methods in Child Language

  A Practical Guide

  • Erika Hoff(Author)
  • 2011(Publication Date)
  • Wiley-Blackwell

    (Publisher)

  In summary, there is seldom reason to ask whether language is impaired in children with intellectual disabilities; it almost certainly will be. However, the following are all fruitful questions to be addressed through empirical research:

  1. 1 Are language impairments or delays more or less serious than those in other domains of psychological or behavioral functioning? Perhaps the most high profile line of research addressing this question has been focused on Williams Syndrome. This syndrome was originally put forth as providing evidence of modularity because affected individuals were thought to have largely age-appropriate language despite severe intellectual disability, although more recent findings have refuted these early claims (Mervis, 2009).
  2. 2 Are impairments or delays variable across different components or dimensions of language? There is evidence, for example, that lexical development either keeps pace with, or is in advance of, nonverbal cognitive development in individuals with Down syndrome, whereas syntax, especially expressive syntax, is delayed relative to lexical development and nonverbal cognition in these individuals (Martin et al., 2009).
  3. 3 Are there etiology-related differences in the profile of language impairments or patterns of language development? In our research, for example, we have found that limitations in many areas of syntax are more pronounced in individuals with Down syndrome than in age- and cognitive-ability-matched individuals with fragile X syndrome (e.g., Finestack and Abbeduto, 2010). Answers to this question are useful in generating hypotheses about causal factors, including at the genetic level, in language development and disorders.
  4. 4 What are the concurrent and predictive relationships between linguistic and nonlinguistic development for individuals with intellectual disabilities? In the case of Down syndrome, for example, receptive syntax levels have been found to be related to hearing status and auditory memory, but not visual-spatial memory (Miolo, Chapman, and Sindberg, 2005). Although largely correlational in nature, research addressing this question can lead to the identification of the specific psychological and behavioral causes of language impairments in individuals with intellectual disabilities.

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