1: Pediatr Pathol Mol Med. 2004 Jan-Feb;23(1):29-37.

Williams syndrome associated with crohn disease, multiple infections, and chronic granulomatous disease.

Gilbert-Barness E, Fox T, Morrow G, Luquette M, Pomerance H

University of South Florida College of Medicine, Tampa, Florida, USA.

PMID: 15371121 [PubMed – in process]

2: Neuroscience. 2004;123(4):931-8.

TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype.

Danoff SK, Taylor HE, Blackshaw S, Desiderio S.

Division of Pulmonary and Critical Care, Department of Medicine, 1830 East Monument Street, Room 532, Baltimore, MD 21205, USA. sdanoff@jhmi.edu
The gene for TFII-I, a widely expressed transcription factor, has been localized to an interval of human chromosome 7q11.23 that is commonly deleted in Williams syndrome (WS). The clinical phenotype of WS includes elfin facies, infantile hypercalcemia, supravalvular aortic stenosis, hyperacusis and mental retardation. The WS cognitive profile (WSCP) is notable for the differential impairment of visual-spatial abilities with relative sparing of verbal-linguistic function. Fine mapping of individuals with WS has revealed a close association between deletion of TFII-I and the WSCP. To determine the plausibility of the hypothesis that hemizygous deletion of TFII-I contributes to the WSCP, we have examined the anatomic distribution of TFII-I RNA and protein isoforms in brains from adult and embryonic mice. Our studies show that early in development, TFII-I expression is widespread and nearly uniform throughout the brain. In adult brain, TFII-I protein is present exclusively in neurons. Highest levels of expression are observed in cerebellar Purkinje cells and in hippocampal interneurons. TFII-I immunoreactivity is distinct from that of the related protein, TFII-IRD1, which is also localized to the region of human chromosome 7 deleted in WS. The expression pattern of TFII-I in mouse brain parallels regions in human brain which have been shown to be anatomically and functionally altered in humans with WS. These observations are consistent with the hypothesis that deletion of the gene for TFII-I contributes to the cognitive impairments observed in WS.

PMID: 14751286 [PubMed – indexed for MEDLINE]

3: Neuropsychology. 2004 Jan;18(1):29-37.

Reading and phonological awareness in Williams syndrome.

Menghini D, Verucci L, Vicari S.

Institute di Ricerca e Cura a Carattere Scientifico (IRCCS), Ospedale Pediatrico Bambino Gesu, Santa Marinella, Rome, Italy.

This article describes the relationship between reading, phonological awareness abilities (PA), and intelligence in a group of 16 individuals with Williams syndrome (WS) and in a group of 16 typically developing children, matched for mental age. The individuals with WS were impaired in passage comprehension, in some areas of PA investigated (syllable deletion and rhyme detection), and in nonword reading accuracy, a measure of grapheme-phoneme conversion. This latter finding is relevant, considering that in Italy regular print-to-sound correspondence is the most practiced teaching routine in the early phases of learning to read. ((c) 2004 APA, all rights reserved)

PMID: 14744185 [PubMed – indexed for MEDLINE]

4: Ann Thorac Surg. 2004 Jan;77(1):319-21.

Composite aortoplasty for recurrent coarctation after neonatal repair in Williams syndrome.

Marks JL, Mitchell MB, Campbell DN, Toews WH.

Department of Surgery, University of Colorado Health Sciences Center, Denver, Colorado, USA.
Supravalvar aortic stenosis is the most frequent operation required for Williams syndrome; however, coarctation repair is more common in patients requiring surgery in the first few months of life. We report on a child with Williams syndrome in whom extensive reoperation was required 5 months after neonatal aortic coarctation repair. A composite left subclavian artery flap and allograft patch aortoplasty of the aortic arch and descending aorta was performed through a left thoracotomy using cardiopulmonary bypass and circulatory arrest. Detailed anatomic evaluation of the aortic arch and descending aorta is recommended before initial coarctation repair in neonates with Williams syndrome.

Publication Types:

    * Case Reports

PMID: 14726089 [PubMed – indexed for MEDLINE]

5: Neuropsychologia. 2004;42(5):569-76.

Saccade dysmetria in Williams-Beuren syndrome.

van der Geest JN, Lagers-van Haselen GC, van Hagen JM, Govaerts LC, de Coo IF, de Zeeuw CI, Frens MA.

Department of Neuroscience, Erasmus University Rotterdam, P.O. Box 1738, Erasmus MC, DR 3000, Rotterdam, The Netherlands. j.vandergeest@erasmusmc.nl
Numerous studies have described the poor visuo-spatial processing capacities of subjects with Williams-Beuren syndrome (WBS), a genetically based developmental disorder. Since visual perception and eye movements are closely related we hypothesized that the poor visuo-spatial processing capacities of subjects with WBS might be related to a poor saccadic control. Thereto, we recorded horizontal and vertical saccadic eye movements to targets using infrared video-oculography in 27 subjects with WBS and eight healthy controls. In the WBS group saccadic gains were highly variable, both between and within individual subjects, and they often needed more than one correction saccade to reach the target. Ten (out of a subgroup of 22) WBS subjects showed a large number of hypometric and/or hypermetric saccades, and, also a left-right asymmetry in saccadic gains was observed in WBS. We conclude that the observed impairments in saccadic control are likely to affect the proper processing of visuo-spatial information.

PMID: 14725795 [PubMed – indexed for MEDLINE]

6: Am J Med Genet. 2004 Jan 30;124A(3):263-73.

“Everybody in the world is my friend” hypersociability in young children with Williams syndrome.

Doyle TF, Bellugi U, Korenberg JR, Graham J.

Laboratory for Cognitive Neuroscience, The Salk Institute for Biological Studies, La Jolla, California 92037, USA. doyle@salk.edu
Williams syndrome (WS) is a rare genetic disorder involving a characteristic cardiac defect, typical facial appearance, and an uneven profile of cognitive strengths and weaknesses. WS is caused by a hemizygous deletion in chromosome band 7q11.23, including the gene for elastin (ELN). Typically, individuals with WS seem driven to greet and interact with strangers. The goal of the present study was to investigate age-related changes in the expression of hypersociability in WS. Parents of 64 children with WS, 31 children with Down syndrome (DS), and 27 normal controls (NC) provided data concerning specific aspects of their children’s social behavior using the Salk Institute Sociability Questionnaire (SISQ). Children ranged in age from 1 year, 1 month to 12 years, 10 months. Consistent with earlier findings, whole group analyses showed the WS group to be significantly higher on all aspects of sociability studied. Comparisons among the groups at different ages revealed that hypersociability is evident even among very young children with WS, and, significantly, children with WS exceed children with DS with respect to Global Sociability and Approach Strangers in every age group. The findings from children who have the typical deletion for WS are contrasted with data obtained from a young child with WS who has a smaller deletion and many physical features of WS, but who does not demonstrate hypersociability, providing intriguing clues to a genetic basis of social behavior in this syndrome. These data suggest the involvement of a genetic predisposition in the expression of hypersociability in WS. Copyright 2003 Wiley-Liss, Inc.

PMID: 14708099 [PubMed – indexed for MEDLINE]

7: Gene Expr Patterns. 2004 Jan;4(1):25-8.

The early embryonic expression of TFII-I during mouse preimplantation development.

Enkhmandakh B, Bitchevaia N, Ruddle F, Bayarsaihan D.

Department of Molecular, Cellular and Developmental Biology, Yale University, 266 Whitney Avenue, New Haven, CT 06520, USA.
We studied the developmentally regulated expression of mouse TFII-I, a founding member of a family of transcription factors characterized by the presence of multiple helix-loop-helix repeat domains. TFII-I and BEN, a second member of this family, are involved in histone modification and SUMOylation. The genes, GTF2I and GTF2IRD1, encoding these proteins in human are located at chromosomal band 7q11.23, within the Williams syndrome critical region. Our immunohistochemical analysis revealed extensive expression of TFII-I at early stages of embryogenesis. Like BEN, TFII-I is detected in the cytoplasm and nuclei of postfertilization through first cleavage stage embryos. However, in E4.5 blastocysts, at the time of implantation, TFII-I is localized in the nucleus and cytoplasm of the inner cell mass (ICM) and trophectoderm. BEN, at this stage, is expressed only in the cytoplasm of trophoblast cells, but not in the ICM [Gene Expr. Patterns, 2003; 3, 577-587]. Using RT-PCR, we detected Gtf2i and Gtf2ird1 mRNA transcripts in unfertilized oocytes, which indicates the maternal expression of these genes. Thus, the early embryonic expression of TFII-I implicates this family of transcription factors in preimplantation development.

PMID: 14678824 [PubMed – in process]

8: Int J Lang Commun Disord. 2004 Jan-Mar;39(1):45-64.>

Pragmatic language impairment and social deficits in Williams syndrome: a comparison with Down’s syndrome and specific language impairment.

Laws G, Bishop D.

Department of Experimental Psychology, University of Oxford, Oxford, UK. glynis.laws@psy.ox.ac.uk
BACKGROUND: The social communication strength of individuals with Williams syndrome described by some researchers contrasts with the picture of social difficulties painted by others. AIMS: To study the pragmatic aspects of language, social relationships and unusual interests in a group of children and adults with Williams syndrome, and to compare them with a group of children and adults with Down’s syndrome, children with specific language impairment, and a group of typically developing children. METHODS & PROCEDURES: Parents or teachers completed the Children’s Communication Checklist or a modified version of it with wording appropriate for adults. Study groups consisted of 19 children and young adults with Williams syndrome, 24 with Down’s syndrome, 17 children with specific language impairment and 32 typically developing children. OUTCOMES & RESULTS: Checklist ratings for the group with Williams syndrome indicated significant levels of pragmatic language impairment, and difficulties with social relationships. Together with evidence of unusual or restricted interests, the results suggested deficits across all three domains covered by the checklist. CONCLUSIONS: Despite earlier reports that emphasize a strong social interest and empathy, this study suggests that individuals with Williams syndrome have pragmatic language impairments, poor social relationships and restricted interests. Far from representing the polar opposite of autism, as suggested by some researchers, Williams syndrome would seem to share many of the characteristics of autistic disorder.

PMID: 14660186 [PubMed – indexed for MEDLINE]

9: Neuropsychologia. 2004;42(2):201-13.

Lexical production in children with Williams syndrome: spontaneous use of gesture in a naming task.

Bello A, Capirci O, Volterra V.

Institute of Human Physiology, University of Parma, Parma, Italy.
This study investigates lexical organization and lexical retrieval in children with Williams syndrome (WS), by examining both naming accuracy and accompanying use of gestures in a picture-naming task. Ten children with the genetic disorder of Williams syndrome (age range: 9.5-12.9) were compared with 20 typically developing children, 10 matched for chronological age (CA) and 10 for mental-age (MA). Lexical production was measured by administering the Boston Naming test (BNT). Older typically developing children performed significantly better than the other two groups. No differences in accuracy were found between the children with WS and the typically developing children matched for mental-age. The overall distribution of error types displayed by children with WS indicate that the lexical-semantic organization is similar to that of typically developing children. However, compared to controls, the WS group produced more iconic gestures during the task, in patterns that suggest the existence of specific word-finding difficulties in these children. Results are discussed within the framework of recent theories on the role of gesture in speech production.

PMID: 14644106 [PubMed – indexed for MEDLINE]