Literature DB >> 12730017

Williams syndrome: 15 years of psychological research.

Carolyn B Mervis1.   

Abstract

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 (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.

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Year:  2003        PMID: 12730017     DOI: 10.1080/87565641.2003.9651884

Source DB:  PubMed          Journal:  Dev Neuropsychol        ISSN: 1532-6942            Impact factor:   2.253


  16 in total

1.  An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.

Authors:  Lisa Edelmann; Aaron Prosnitz; Sherly Pardo; Jahnavi Bhatt; Ninette Cohen; Tara Lauriat; Leonid Ouchanov; Patricia J González; Elina R Manghi; Pamela Bondy; Marcela Esquivel; Silvia Monge; Marietha F Delgado; Alessandra Splendore; Uta Francke; Barbara K Burton; L Alison McInnes
Journal:  J Med Genet       Date:  2006-09-13       Impact factor: 6.318

Review 2.  Neurodevelopmental Disorders Affecting Sociability: Recent Research Advances and Future Directions in Autism Spectrum Disorder and Williams Syndrome.

Authors:  Giacomo Vivanti; Taralee Hamner; Nancy Raitano Lee
Journal:  Curr Neurol Neurosci Rep       Date:  2018-10-17       Impact factor: 5.081

3.  Mother-Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome.

Authors:  Omri Weisman; Ruth Feldman; Merav Burg-Malki; Miri Keren; Ronny Geva; Gil Diesendruck; Doron Gothelf
Journal:  J Autism Dev Disord       Date:  2015-08

4.  Genetic influences on sociability: heightened amygdala reactivity and event-related responses to positive social stimuli in Williams syndrome.

Authors:  Brian W Haas; Debra Mills; Anna Yam; Fumiko Hoeft; Ursula Bellugi; Allan Reiss
Journal:  J Neurosci       Date:  2009-01-28       Impact factor: 6.167

Review 5.  Attention deficits, Attention-Deficit Hyperactivity Disorder, and intellectual disabilities.

Authors:  Curtis K Deutsch; William V Dube; William J McIlvane
Journal:  Dev Disabil Res Rev       Date:  2008

6.  Sudden unexpected death in a toddler with Williams syndrome.

Authors:  Henry F Krous; Carter Wahl; Amy E Chadwick
Journal:  Forensic Sci Med Pathol       Date:  2008-04-04       Impact factor: 2.007

7.  GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.

Authors:  Aleksandr V Makeyev; Lkhamsuren Erdenechimeg; Ognoon Mungunsukh; Jutta J Roth; Badam Enkhmandakh; Frank H Ruddle; Dashzeveg Bayarsaihan
Journal:  Proc Natl Acad Sci U S A       Date:  2004-07-08       Impact factor: 11.205

Review 8.  Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Authors:  Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober
Journal:  Genet Med       Date:  2008-07       Impact factor: 8.822

Review 9.  Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.

Authors:  Lucy R Osborne; Carolyn B Mervis
Journal:  Expert Rev Mol Med       Date:  2007-06-13       Impact factor: 5.600

10.  Comparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome.

Authors:  O Weisman; R Feldman; M Burg-Malki; M Keren; R Geva; G Diesendruck; D Gothelf
Journal:  J Intellect Disabil Res       Date:  2017-10-08
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