I. The Neurocognitive Profile of Williams Syndrome: A Complex Pattern of Strengths and Weaknesses

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

The rare, genetically based disorder, Williams syndrome (WMS), produces a constellation of distinctive cognitive, neuroanatomical, and electrophysiological features which we explore through the series of studies reported here. In this paper, we focus primarily on the cognitive characteristics of WMS and begin to forge links among these characteristics, the brain, and the genetic basis of the disorder. The distinctive cognitive profile of individuals with WMS includes relative strengths in language and facial processing and profound impairment in spatial cognition. The cognitive profile of abilities, including what is 'typical' for individuals with WMS is discussed, but we also highlight areas of variability across the group of individuals with WMS that we have studied. Although the overall cognitive abilities (IQs) of individuals with WMS are typically in the mild-to-moderate range of mental retardation, the peaks and valleys within different cognitive domains make this syndrome especially intriguing to study across levels. Understanding the brain basis (and ultimately the genetic basis) for higher cognitive functioning is the goal we have begun to undertake with this line of interdisciplinary research.

Related collections

Most cited references 25

Record: found
Abstract: found
Article: not found

Development itself is the key to understanding developmental disorders.

Annette Karmiloff-Smith (1998)

It is a truism that development involves contributions from both genes and environment, but theories differ with respect to the roles they attribute to each, which deeply affects the ways in which developmental disorders are researched. The strict nativist approach to abnormal phenotypes, inspired by adult neuropsychology and evolutionary psychology, seeks to identify impairments to domain-specific cognitive modules and studies the purported juxtaposition of impaired and intact abilities. The neuroconstructivist approach differs in several respects: (i) it seeks more indirect, lower-level causes of abnormality than impaired cognitive modules; (ii)modules are thought to emerge from a developmental process of modularization; (iii) unlike empiricism, neuroconstructivism accepts some form of innately specified starting points, but unlike nativism, these are considered to be initially `domain-relevant', only becoming domain-specific with the process of development and specific environmental interactions; and (iv) different cognitive disorders are considered to lie on a continuum rather than to be truly specific. These alternative theoretical positions are briefly considered as they apply to Specific Language Impairment, and followed by a more detailed case study of a well-defined neurodevelopmental disorder, Williams syndrome. It is argued that development itself plays a crucial role in phenotypical outcomes.

0 comments Cited 179 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.

J.Michael Frangiskakis, Amanda K. Ewart, Colleen Morris … (1996)

To identify genes important for human cognitive development, we studied Williams syndrome (WS), a developmental disorder that includes poor visuospatial constructive cognition. Here we describe two families with a partial WS phenotype; affected members have the specific WS cognitive profile and vascular disease, but lack other WS features. Submicroscopic chromosome 7q11.23 deletions cosegregate with this phenotype in both families. DNA sequence analyses of the region affected by the smallest deletion (83.6 kb) revealed two genes, elastin (ELN) and LIM-kinase1 (LIMK1). The latter encodes a novel protein kinase with LIM domains and is strongly expressed in the brain. Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in imparied visuospatial constructive cognition.