Event Abstract Back to Event Language and Cognitive Development of Children Who Have Williams Syndrome or Duplication of the Williams Syndrome Region C. B. Mervis1*, S. L. Velleman2, A. E. John1, A. Currier3, E. Peregrine1, A. M. Becerra1 and C. A. Morris4 1 University of Louisville, Department of Psychological and Brain Sciences, United States 2 University of Massachusetts, Department of Communication Disorders, United States 3 Center for Communication, United States 4 University of Nevada School of Medicine, Department of Pediatrics, United States Purpose: Williams syndrome (WS) is caused by a deletion of ~25 genes on chromosome 7q11.23, typically leading to mild to moderate intellectual disability. WS is associated with a specific cognitive profile involving relative strengths in verbal short-term memory and (concrete) language and severe weakness in visuospatial construction. For every syndrome caused by a deletion, there is hypothesized to be a syndrome caused by a duplication of the same region. The first child with duplication7q11.23 syndrome (dup7q11.23) was phenotyped by our research group in 2005. This child evidenced severe expressive speech and language delay. However, his standard scores for nonverbal reasoning and spatial ability were similar to those for his unaffected sister. The purpose of the present research was to further investigate the cognitive and linguistic phenotype for dup7q11.23 by studying additional individuals with this syndrome and to compare this phenotype to that for WS. In addition we provide a case comparison of two boys with dup7q11.23 demonstrating the importance of speech and language intervention. Method: For the “group” study, seven children and one adult (the mother of two of the children) with duplications of the classic WS region (dup7q11.23) and two children with longer duplications (long-dup) including HSP27 (deletion of which is associated with more severe intellectual disability in individuals with WS with long deletions) participated. Performance on standardized assessments was compared to that of the participants with WS (classic deletions) whom we have assessed on the same measures. Ns for the major assessments range from 52 – 88. For the “case comparison,” participants were two 8½-year-old boys with dup7q11.23 with similar IQs from similar SES and parental education backgrounds. Child 1 had only had sporadic speech therapy, beginning at age 3 years. Child 2 had consistent speech therapy (both private and through early intervention or his school system) beginning as a toddler. Results: Mean standard scores on most measures were higher for the dup7q11.23 group than the WS group. The most striking differences were for measures of visuospatial construction, with DAS-II Spatial Cluster and VMI standard scores averaging ~20 points higher than for WS. Verbal standard scores averaged ~10 points higher than for the WS group on the DAS-II, the PPVT-4, the EVT-2, and the TROG-2. In contrast, mean performance for DAS-II Recall of Digits was at the same level for the two groups. Mean PPVT-4 and TROG-II standard scores for the long-dup group were similar to the dup7q11.23 group, but EVT-2 mean standard score was ~35 points lower than for the dup7q11.23 group and 25 points lower than for the WS group. A particularly striking characteristic of the children in both duplication groups was current or former difficulty with speech. Every participant had or had had severe speech delay. All but one child in the 7q11.23 group had or once had problems with motor speech and/or oral-motor movements. Some had phonological delay and others had phonological disorder. Some had symptoms of Childhood Apraxia of Speech (CAS). Both children with long duplications had CAS. Results of the case comparison strongly demonstrated the impact of early and intensive speech therapy: Child 1 communicated primarily in sentences that were, with effort, comprehensible to most listeners. In contrast, Child 2 communicated primarily by single poorly pronounced words, gestures, pantomime, and drawing. Discussion: The strong differences in language (including speech) and cognitive abilities between children with WS and children with duplications of 7q11.23 suggest that one or more genes in the 7q11.23 region are dosage sensitive and that these genes, in transaction with other genes and the environment, are important for language and cognitive development. Conference: 12th International Professional Conference on Williams Syndrome, Garden Grove,CA, United States, 13 Jul - 14 Jul, 2008. Presentation Type: Oral Presentation Topic: SESSION 4: Phenotype of the 7Q11.23 Duplication Citation: Mervis CB, Velleman SL, John AE, Currier A, Peregrine E, Becerra AM and Morris CA (2009). Language and Cognitive Development of Children Who Have Williams Syndrome or Duplication of the Williams Syndrome Region. Conference Abstract: 12th International Professional Conference on Williams Syndrome. doi: 10.3389/conf.neuro.09.2009.07.013 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 29 Apr 2009; Published Online: 29 Apr 2009. * Correspondence: C. B Mervis, University of Louisville, Department of Psychological and Brain Sciences, Louisville, United States, cbmervis@louisville.edu Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers C. B Mervis S. L Velleman A. E John A. Currier E. Peregrine A. M Becerra C. A Morris Google C. B Mervis S. L Velleman A. E John A. Currier E. Peregrine A. M Becerra C. A Morris Google Scholar C. B Mervis S. L Velleman A. E John A. Currier E. Peregrine A. M Becerra C. A Morris PubMed C. B Mervis S. L Velleman A. E John A. Currier E. Peregrine A. M Becerra C. A Morris Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.