Williams Syndrome Medline Alert - January 2002

From the Medical Literature - January 2002

Record 1

[Role of elastin in the development of vascular function. Knock-out study of the elastin gene in mice] Role de l'elastine dans le developpement et la fonction vasculaires. Etude par knock-out du gene de l'elastine chez la souris. Faury G Laboratoire de Bioenergetique Fondamentale et Appliquee-Groupe d'Electrophysiologie Moleculaire, Universite Joseph Fourier, B.P. 53 X, 38041 Grenoble, France. [email protected] Journal de la Societe de biologie (France) 2001, 195 (2) p151-6, Languages: FRENCH Document type: Journal Article; Review; Review, Tutorial ; English Abstract Record type: Completed

The elastic fibres endow extensible tissues with resiliency, such as in blood vessels, heart, skin and lung. Elastic fibres are made of microfibrils, and mainly elastin (90%) which provides the fibre with elasticity. Beside the biomechanical role of elastin, a close correlation between elastin and elastic fibre network disorganisation and vascular smooth muscle cell (VSMC) growth disregulation has been known for several years through the description and study of several human or animal polyfeatured or obstructive vascular diseases, such as supravalvular aortic stenosis (SVAS) and Williams syndrome (WS), both related to heterozygous mutations or deletion in the elastin gene. The study of mice knock-out for the elastin gene (homozygous or heterozygous) leads to think that elastin should now be seen as an important elastic component providing extensible tissues with resiliency, as well as a major developmental regulator of VSMC life cycle and smooth muscle tissue organisation. Further developments in the area of preventive therapy of SVAS, WS or other inherited muscular disorders are likely to arise from these results. (34 Refs.) Record Date Created: 20011128

Record 2

ISWI Remodeling Complexes in Xenopus Egg Extracts: Identification as Major Chromosomal Components that Are Regulated by INCENP-aurora B. MacCallum David E; Losada Ana; Kobayashi Ryuji; Hirano Tatsuya Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724. Molecular biology of the cell (United States) Jan 2002, 13 (1) p25-39, ISSN 1059-1524 Languages: ENGLISH Document type: Journal Article Record type: In Process

We previously characterized major components of mitotic chromosomes assembled in Xenopus laevis egg extracts and collectively referred to them as Xenopus chromosome-associated polypeptides (XCAPs). They included five subunits of the condensin complex essential for chromosome condensation. In an effort to identify novel proteins involved in this process, we have isolated XCAP-F and found it to be the Xenopus ortholog of ISWI, a chromatin remodeling ATPase. ISWI exists in two major complexes in Xenopus egg extracts. The first complex contains ACF1 and two low-molecular-weight subunits, most likely corresponding to Xenopus CHRAC. The second complex is a novel one that contains the Xenopus ortholog of the human Williams syndrome transcription factor (WSTF). In the absence of the ISWI complexes, the deposition of histones onto DNA is apparently normal, but the spacing of nucleosomes is greatly disturbed. Despite the poor spacing of nucleosomes, ISWI depletion has little effect on DNA replication, chromosome condensation or sister chromatid cohesion in the cell-free extracts. The association of ISWI with chromatin is cell cycle regulated and is under the control of the INCENP-aurora B kinase complex that phosphorylates histone H3 during mitosis. Apparently contradictory to the generally accepted model, we find that neither chromosome condensation nor chromosomal targeting of condensin is compromised when H3 phosphorylation is drastically reduced by depletion of INCENP-aurora B. Record Date Created: 20020125

Record 3

Differences by sex in cardiovascular disease in Williams syndrome. Sadler L S; Pober B R; Grandinetti A; Scheiber D; Fekete G; Sharma A N; Urban Z Division of Genetics, Children's Hospital of Buffalo, New York, USA. Journal of pediatrics (United States) Dec 2001, 139 (6) p849-53, ISSN 0022-3476 Languages: ENGLISH Document type: Journal Article Record type: Completed

OBJECTIVE: To analyze the incidence and severity of cardiovascular disease in patients with Williams syndrome (WS) and to identify factors contributing to its variable expression. METHODS: Clinical data on patients with WS were collected from several WS centers. Elastin gene deletions were confirmed in all patients. Age at diagnosis, growth data, and cardiovascular diagnoses were recorded retrospectively. Cardiac diagnoses were made on the basis of echocardiographic data. The severity of supravalvular aortic stenosis was recorded by using a 4-step scale (none, mild, moderate, severe). RESULTS: Statistical analysis of the data revealed that the severity of both supravalvular aortic stenosis and total cardiovascular disease was significantly greater in male patients than female patients (P <.002 and P <.002, respectively; Kruskal-Wallis rank-sum test). This difference was not accounted for by differences in height, weight, body mass index, or head circumference. The clinical diagnosis of WS was made at a significantly younger age in male patients (P <.01, Student t test). Earlier diagnosis was partly because of increased incidence and severity of cardiovascular disease. Another determinant of early diagnosis was low body mass index. CONCLUSION: Penetrance and severity of the elastin arteriopathy in patients with WS is affected by sex. We hypothesize that differences by sex in arterial stenoses may be related to prenatal hormonal effects. Future epidemiologic and in vitro studies may provide additional insight into the pathogenetic mechanisms of these observed differences. Record Date Created: 20011214

Record 4

A longitudinal assessment of diverging verbal and non-verbal abilities in the Williams syndrome phenotype. Jarrold C; Baddeley A D; Hewes A K; Phillips C Centre for the Study of Memory and Learning, Department of Experimental Psychology, University of Bristol, UK. [email protected] Cortex; a journal devoted to the study of the nervous system and behavior (Italy) Jun 2001, 37 (3) p423-31, ISSN 0010-9452 Languages: ENGLISH Document type: Journal Article Record type: Completed

Jarrold et al. (1998) presented evidence to suggest that verbal and non-verbal abilities develop at different rates in individuals with the Williams syndrome phenotype. However, this evidence was derived from cross-sectional rather than longitudinal data. The current report presents data from a series of follow up assessments which examine the development of vocabulary and pattern construction abilities in 15 of the original sample of 16 individuals, over a 40 month period. The results confirm the original predictions, as mental age equivalent scores for vocabulary increase more rapidly than scores for the pattern construction test; a finding, which appears unlikely to be due to practice effects. Record Date Created: 20010803

Record 5

[Maternal stress among mothers of children with Williams-Beuren syndrome, Down's syndrome and mental retardation of non-syndromal etiology in comparison to mothers of non-disabled children] Mutterliche Belastung bei Kindern mit Williams-Beuren-Syndrom, Down-Syndrom, geistiger Behinderung nichtsyndromaler Atiologie im Vergleich zu der nichtbehinderter Kinder. Gosch A Universitats-Klinikum der Christian-Albrechts-Universitat zu Kiel, Klinik fur Allgemeine Padiatrie, Padiatrische Psychologie. [email protected] el.de Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie ( Switzerland) Nov 2001, 29 (4) p285-95, ISSN 1422-4917 Languages: GERMAN Document type: Journal Article ; English Abstract Record type: Completed

OBJECTIVES: This study assesses the quantity of stress in mothers of children with mental retardation of different etiologies (Williams Syndrome--WS, Down Syndrome--DS, mental retardation of different etiologies--MR) and in mothers of non-disabled children (MA). METHODS: 85 mothers were asked to complete the Parenting Stress Index (PSI) and the Child Behavior Checklist (CBCL). The groups were matched according to the children's age, sex, and verbal comprehension as assessed by the WISC-R. Data on the child's mental age (WISC-R) and the family's socio-economic level were collected. RESULTS: Significant differences were found in the Child Domain, but not in the Parent Domain of the PSI. According to the Child Domain, mothers of children with WS and DS scored significantly higher on the acceptance and demandingness scales, while mothers of children with MR scored higher on the acceptance scale than did mothers of children with MA. Moreover mothers of children with WS displayed the highest scores on the hyperactivity, mood and adaptability scales. Groups did not differ on the level of experienced reinforcement from their child. No significant differences were found in the Parent Domain according to the subscales attachment and social isolation. Mothers of children with DS scored higher than the other groups on the scales: depression, sense of competence and parent health. Mothers of children with MR scored lower on restriction of their role as a parent and relationship to their spouse. The degree of the children's mental retardation as well as conspicuous behavior correlated positively with maternal stress but not the familial socio-economic level or the age of the children. CONCLUSIONS: Generally, mothers of children with mental retardation, regardless of its etiology, find it more difficult to accept their child than do mothers of non-disabled children. Specific behavior problems associated with the behavioral phenotype of a syndrome also influence the level of maternal stress. Record Date Created: 20011214

Record 6

Surgical repair of congenital supravalvular aortic stenosis in children. Brown John W; Ruzmetov Mark; Vijay Palaniswamy; Turrentine Mark W Section of Cardiothoracic Surgery, James W. Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202-5123, USA European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery (England) Jan 2002, 21 (1) p50-6, ISSN 1010-7940 Languages: ENGLISH Document type: Journal Article Record type: In Process

Objective: Supravalvular aortic stenosis (SVAS) is an uncommon congenital cardiac anomaly characterized by varying degrees of left ventricular outflow tract obstruction beginning distal to the aortic valve. Methods: Between March 1962 and December 2000, 101 consecutive patients underwent surgical correction for congenital SVAS at Riley Children's Hospital. There were 61 male (60%) and 40 female (40%) ranging in age from 3 month to 17 years (medium age, 6.1 years). Fourteen patients (14%) had Williams syndrome. Preoperatively, 11 patients were in New York Heart Association (NYHA) functional class I, 55 in class II, 28 in class III, and seven in class IV. Of the 101 patients, 73 (72%) had localized type SVAS and 28 (28%) diffuse type SVAS. Results: Those with localized SVAS were successfully treated with patch aortoplasty, whereas those with diffuse SVAS required either an apical aortic conduit or extensive endarterectomy with patch aortoplasty. The overall mean pressure gradient was reduced to 21 mmHg (P<0.001) in the early postoperative period. There were one early death (<30 days postoperatively) (1%), two (2%) late deaths, and 14 patients (14%) underwent one or two additional operation (n=17) in a follow-up period ranging from 6 months to 30 years (medium 9.4 years). Postoperatively, there were 72 patients (73%) in NYHA functional class I and 26 (27%) in class II. Overall survival including operative mortality was 98% at 10 years, 97% at 20 and at 30 years. Conclusion: Good surgical outcome of congenital SVAS can be achieved with the appropriate method of treatment in patients with both localized and diffuse SVAS. Record Date Created: 20020114

Record 7

Williams syndrome. Patel A B; Renge R L Department of Pediatrics and Clinical Epidemiology Unit, Indira Gandhi Medical College, Nagpur, India. Indian pediatrics (India) Dec 7 2001, 38 (12) p1427, ISSN 0019-6061 Languages: ENGLISH Document type: Journal Article Record type: In Process Record Date Created: 20011225

Record 8

Differences by sex in cardiovascular disease in Williams syndrome. Sadler L S; Pober B R; Grandinetti A; Scheiber D; Fekete G; Sharma A N; Urban Z Division of Genetics, Children's Hospital of Buffalo, New York. Journal of pediatrics (United States) Dec 2001, 139 (6) p849-53, ISSN 0022-3476 Languages: ENGLISH Document type: Journal Article Record type: In Process

Record 9

Molecular dissection of DNA sequences and factors involved in slow muscle-specific transcription. Calvo S; Vullhorst D; Venepally P; Cheng J; Karavanova I; Buonanno A Section on Molecular Neurobiology, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Molecular and cellular biology (United States) Dec 2001, 21 (24) p8490-503, ISSN 0270-7306 Languages: ENGLISH Document type: Journal Article Record type: Completed

Transcription is a major regulatory mechanism for the generation of slow- and fast-twitch myofibers. We previously identified an upstream region of the slow TnI gene (slow upstream regulatory element [SURE]) and an intronic region of the fast TnI gene (fast intronic regulatory element [FIRE]) that are sufficient to direct fiber type-specific transcription in transgenic mice. Here we demonstrate that the downstream half of TnI SURE, containing E box, NFAT, MEF-2, and CACC motifs, is sufficient to confer pan-skeletal muscle-specific expression in transgenic mice. However, upstream regions of SURE and FIRE are required for slow and fast fiber type specificity, respectively. By adding back upstream SURE sequences to the pan-muscle-specific enhancer, we delineated a 15-bp region necessary for slow muscle specificity. Using this sequence in a yeast one-hybrid screen, we isolated cDNAs for general transcription factor 3 (GTF3)/muscle TFII-I repeat domain-containing protein 1 (MusTRD1). GTF3 is a multidomain nuclear protein related to initiator element-binding transcription factor TF II-I; the genes for both proteins are deleted in persons with Williams-Beuren syndrome, who often manifest muscle weakness. Gel retardation assays revealed that full-length GTF3, as well as its carboxy-terminal half, specifically bind the bicoid-like motif of SURE (GTTAATCCG). GTF3 expression is neither muscle nor fiber type specific. Its levels are highest during a period of fetal development that coincides with the emergence of specific fiber types and transiently increases in regenerating muscles damaged by bupivacaine. We further show that transcription from TnI SURE is repressed by GTF3 when overexpressed in electroporated adult soleus muscles. These results suggest a role for GTF3 as a regulator of slow TnI expression during early stages of muscle development and suggest how it could contribute to Williams-Beuren syndrome. Record Date Created: 20011119

Record 10

Language and number in Down syndrome: the complex developmental trajectory from infancy to adulthood. Paterson S Neurocognitive Development Unit, Institute of Child Health, London. [email protected] Down's syndrome, research and practice : the journal of the Sarah Duffen Centre / University of Portsmouth (England) Oct 2001, 7 (2) p79-86, ISSN 0968-7912 Languages: ENGLISH Document type: Journal Article Record type: In Process

This paper examines language and number understanding in infants with Down syndrome and Williams syndrome and compares infant performance to that of adults. The cross-syndrome/cross-domain studies demonstrate that the pattern of performance of infants with Down syndrome and Williams syndrome on two tasks assessing language and number cannot be derived from the pattern of proficiencies and impairments in the adult phenotypic outcome. Single word comprehension was assessed using a visual preference paradigm. All groups (Williams syndrome, Down syndrome, chronological age and mental age-matched controls) looked longer at the stimuli which matched the verbal label but the infants with Down syndrome and Williams syndrome were equally delayed (equivalent to their mental age controls). The similarity between the infants with Down syndrome and those with Williams syndrome did not parallel the difference present in the adult phenotypes, where vocabulary skill in Down syndrome is significantly lower than that in Williams syndrome. Number was assessed using a novelty preference paradigm, in which infants were familiarised with displays of 2 objects and then presented with 2 versus 3 objects. Infants with Williams syndrome discriminated between the familiar and novel numerosities. Infants with Down syndrome did not. Again, the difference between the Down syndrome and Williams syndrome infant groups did not parallel the pattern seen in the adult phenotypes, where individuals with Down syndrome performed better than those with Williams syndrome. It is therefore crucial to characterise the infant state, in order to understand fully the developmental trajectories of atypical groups. Record Date Created: 20011127

Record 11

Online data collection with special populations over the World Wide Web. Marcell M M; Falls A L Department of Psychology, College of Charleston, Charleston, South Carolina 29424, USA. [email protected] Down's syndrome, research and practice : the journal of the Sarah Duffen Centre / University of Portsmouth (England) Oct 2001, 7 (3) p106-23, ISSN 0968-7912 Languages: ENGLISH Document type: Journal Article Record type: In Process

The quick ascendance of the World Wide Web as the dominant vehicle for internet communication has recently made experimentation in a multimedia environment feasible on the Internet. Although web sites containing online psychology demonstrations and experiments for non-handicapped individuals have appeared in recent years (especially in the areas of cognitive and social psychology), there appear to have been few attempts to conduct online experimentation with special populations. We recently completed two online pilot studies of families with Down syndrome or Williams syndrome members: a) A survey that asks (via Likert rating scales, adjective checklists, multiple-choice style questions, and text-entry boxes) about family background, computer use, and temperament of the special needs family member; and b) An experiment (completed by an individual with special needs) that includes auditory and visual digit span tasks and a memory-for-orientation task in which responses are entered via mouse clicks. Recruiting began with e-mail announcements to representative Down syndrome and Williams syndrome discussion groups, listserves, and bulletin boards, and submission of the project's URL (http://www.cofc.edu/ marcellm/ testaw.htm) and key indexing terms to selected search engines. This paper reviews technical aspects of developing the online programmes as well as the strengths and weaknesses of online vs. traditional laboratory-based research in relation to issues such as experimental control, delivery of instructions, experimenter bias, participant recruitment, sample heterogeneity, generalization, attrition, privacy, financial costs, data integrity, and ethics. We conclude by offering our thoughts on two ways of implementing online experimentation with special populations: a) Using a remote parent 'helper' as a proxy to work with the target individual; and b) Collaborating with professional colleagues in Web-based projects conducted in traditional laboratory settings. Record Date Created: 20011127

Record 12

Role de l'elastine dans le developpement et la fonction vasculaires. Etude par knock-out du gene de l'elastine chez la souris. Faury G Laboratoire de Bioenergetique Fondamentale et Appliquee-Groupe d'Electrophysiologie Moleculaire, Universite Joseph Fourier, B.P. 53 X, 38041 Grenoble, France. [email protected] Journal de la Societe de biologie (France) 2001, 195 (2) p151-6, Languages: FRENCH Document type: Journal Article Record type: In Process

Record 13

Record 14

Balloon dilation angioplasty of peripheral pulmonary stenosis associated with Williams syndrome. Geggel R L; Gauvreau K; Lock J E Department of Cardiology, Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA. [email protected] Circulation (United States) May 1 2001, 103 (17) p2165-70, ISSN 1524-4539 Languages: ENGLISH Document type: Journal Article Record type: In Process

BACKGROUND: Experience of balloon dilation of peripheral pulmonary stenosis (PPS) in Williams syndrome (WS) is limited. METHODS AND RESULTS: Catheterizations in all patients with WS undergoing therapy for PPS from 1984 to 1999 were reviewed. Criteria for successful dilation included an increase >50% in predilation diameter and a decrease >20% in ratio of right ventricular (RV) to aortic (Ao) systolic pressure. Median age and weight were 1.5 years and 9.5 kg. There were 134 dilations during 39 procedures in 25 patients. The success rate for initial dilations was 51%. In multivariate analysis, successful dilation was more likely (1) in distal than in central pulmonary arteries (P=0.02), (2) if the balloon waist resolved with inflation (P=0.001), and (3) with larger balloon/stenosis ratio (P<0.001). RV pressure was unchanged after dilation (96+/-30 versus 97+/-31 mm Hg), primarily because of failure to enlarge central pulmonary arteries. The Ao pressure increased (102+/-14 versus 109+/-19 mm Hg, P=0.03), and the RV/Ao pressure ratio decreased (0.97+/-0.34 versus 0.91+/-0.30, P=0.05). Aneurysms developed after 24 dilations (18%) and were not related to balloon/stenosis ratio. Balloon rupture in 12 dilations produced an aneurysm in all 7 cases when rupture was in a hypoplastic segment. Three patients died, none from pulmonary artery trauma, and all before 1994. CONCLUSIONS: Mortality occurred early in our experience. Despite successful dilation of distal pulmonary arteries, there was modest initial hemodynamic improvement, mainly because of persistent central pulmonary artery obstruction. A serial approach of distal dilations followed by surgical repair of proximal obstruction may be a rational and successful therapy. Record Date Created: 20010524

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