Get your own Free Home PageRecord 1Williams syndrome--the Singapore General Hospital experience. Teo SH; Chan DK; Yong MH; Ng IS; Wong KY; Knight L; Ho LY Department of Paediatric Medicine, Singapore General Hospital, Singapore. Ann Acad Med Singapore (SINGAPORE) May 1997, 26 (3) p360-4, ISSN 0304-4602 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome first described in 1961 is generally characterised by mental deficiency, gregarious personality, unusual "elfin" facies, supravalvular aortic stenosis and idiopathic infantile hypercalcaemia. Patients with Williams syndrome show a hemizygous submicroscopic deletion of 7q11.23 detectable by fluorescent in-situ hybridisation (FISH). The deleted portion of the chromosome corresponds to the Elastin gene. We report 3 girls with characteristics of Williams syndrome in whom the diagnosis was confirmed by demonstration of the hemizygous deletion of 7q11.23 in the karyotype by FISH. These patients, aged 6, 7 and 10 years, showed the characteristic facies and gregarious personalities. Some developmental delay with mild mental deficiency and dysmorphic facies were prominent features in the initial presentation. Cardiac lesions found in these patients were small patent ductus arteriosus which closed, pulmonary valvular stenosis and mitral valve prolapse associated with mitral regurgitation respectively. Hypercalcaemia was not documented in these patients. Learning difficulty was a major issue and all patients required special schooling. Chromosome analyses done on peripheral blood were found to be normal in all patients. FISH using the Elastin Williams Syndrome Chromosome Region (WSCR) probes (oncor) showed the hemizygous deletion of 7q11.23. Diagnosis of Williams syndrome can now be confidently confirmed with the help of FISH.
Record 2(William's syndrome: from phenotype to genotype) Sindrome de Williams, del fenotipo al genotipo. Perez Jurado LA Hospital Nino Jesus, Dep. de Bioquimica, Facultad de Medicina, Universidad Autonoma de Madrid. An Esp Pediatr (SPAIN) Aug 1997, 47 (2) p212-8, ISSN 0302-4342 Languages: SPANISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL (50 Refs.)
Record 3Cognitive, adaptive, and behavioral characteristics of Williams syndrome. Greer MK; Brown FR 3rd; Pai GS; Choudry SH; Klein AJ Department of Pediatrics, Medical University of South Carolina, Charleston 29425-3310, USA. Am J Med Genet (UNITED STATES) Sep 19 1997, 74 (5) p521-5, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome is a genetic disorder linked to cognitive and behavioral patterns of varying consistency; this study was conducted to clarify further the strengths and weaknesses of children with Williams syndrome. Fifteen subjects with the characteristic features of Williams syndrome were evaluated using the Stanford-Binet Intelligence Scale for Children, Fourth Edition; the Vineland Adaptive Behavior Scales, Interview Edition; and the Child Behavior Checklist. Cognitive skills ranged from the Moderate Range of Mental Retardation to the Low Average range, with relative strengths in nonverbal and quantitative reasoning. Adaptive skills were delayed, with strengths in communication and socialization. Behaviorally, clinically significant levels of attention problems, borderline-significant levels of social and thought problems, and significantly low levels of social contacts and structured activities were found. In contrast to the findings of many other studies of Williams syndrome, language skills and short-term memory skills were weak. Children with Williams syndrome may present a more evenly developed intellectual profile, with verbal and nonverbal skills being commensurate. In conclusion, a variety of cognitive, adaptive, and behavioral patterns have been shown to be possible in Williams syndrome; therefore, a single predictable cognitive or behavioral phenotype cannot be assumed.
Record 4Deletion (4)(q33 --> qter): a case report and review of the literature. Borochowitz Z; Shalev SA; Yehudai I; Bar-el H; Dar H; Tirosh E Simon Winter Institute for Human Genetics, Haifa, Israel. J Child Neurol (UNITED STATES) Aug 1997, 12 (5) p335-7, ISSN 0883-0738 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW OF REPORTED CASES (32 Refs.)
Record 5Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome. Gosch A; Pankau R Research Centre for Prevention and Intervention in Childhood and Adolescence, University of Bielefeld, Germany. Dev Med Child Neurol (ENGLAND) Aug 1997, 39 (8) p527-33, ISSN 0012-1622 Languages: ENGLISH Document type: JOURNAL ARTICLE
To study personality characteristics and behaviour problems in different age groups more precisely, the parents of 105 children with Williams syndrome (WS) were asked to complete a questionnaire with a list of 25 personality adjectives and 18 behaviour disturbances. Three age groups-children under 10 years, adolescents between 10 and 20 years, and adults over 20 years of age-were compared. Adults with WS were described as being less lively, determined, active, restless, tearful, quarrelsome, impertinent, and over-friendly in comparison with children with WS. Additionally, adolescents and adults were assessed as being better balanced and more withdrawn than children with WS. Females were found to be less cheerful and happy as well as more tearful and quarrelsome than males, but these results showed only a statistical tendency. A discriminant analysis was performed to prove whether the three age groups could be discriminated on the basis of personality aspects. The results showed correct classification to one of the three age groups in 86% of the individuals with WS. The most discriminating adjectives were active, lively, well balanced, withdrawn, being over-friendly, and vigorous. No differences regarding age or sex were found after calculating a composite score of behaviour problems reported in each individual. However, a comparison of single behaviour problems showed a decrease in external aggressive behaviours and greater depressive symptoms with increasing age.
Record 6Low MSAFP levels and Williams syndrome. Chodirker BN; Greenberg CR; Giddins NG; Dawson AJ; Evans JA; Chudley AE Department of Human Genetics, University of Manitoba and Health Sciences Centre, Winnipeg, Canada. [email protected] Am J Med Genet (UNITED STATES) Nov 12 1997, 72 (4) p448-50, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome (WS) is associated with a deletion of the elastin gene in over 90% of cases. We report maternal serum alpha feto-protein (MSAFP) levels in 5 women whose fetuses were later diagnosed as having WS. MSAFP levels ranged from 0.5-0.8 multiples of the median (MOM). Although further confirmation is necessary, it appears that MSAFP levels are lower than the median in WS. This apparent association has implications for counselling women following maternal serum screening.
Record 7Williams syndrome and the brain. Lenhoff HM; Wang PP; Greenberg F; Bellugi U University of California, Irvine, USA. Sci Am (UNITED STATES) Dec 1997, 277 (6) p68-73, ISSN 0036-8733 Languages: ENGLISH Document type: JOURNAL ARTICLE
Record 8Do individuals with Williams syndrome have bizarre semantics? Evidence for lexical organization using an on-line task. Tyler LK; Karmiloff-Smith A; Voice JK; Stevens T; Grant J; Udwin O; Davies M; Howlin P Centre for Speech and Language, Birkbeck College, London. [email protected] Cortex (ITALY) Sep 1997, 33 (3) p515-27, ISSN 0010-9452 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome, a neurodevelopmental disorder, has attracted a great deal of debate concerning the purported intactness of language in the face of other serious cognitive deficits. As more in-depth studies of specific aspects of WS language have emerged, the notion of a preserved language module has been seriously challenged. Although WS vocabulary scores are often impressive, several investigators have claimed the WS semantics are aberrant. All studies hitherto have been based on off-line experiments which necessarily involve metalinguistic processes. This clearly affects the performance of individuals with cognitive deficits. We report here an on-line study probing the semantic structure of the WS lexicon, using a task-semantic priming-which minimises metalinguistic demands. We show that WS subjects display the same taxonomic/category and thematic/functional priming effects as normal controls. The results are discussed in terms of the differences between receptive and expressive language, as well as the fact that although semantic memory and the automatic access to semantic information for individual words is normal in WS, the integration of semantic information into sentence comprehension may be abnormal. The importance of online tasks to highlight such differences is stressed.
Record 9Mental retardation: a review of the past 10 years. Part II. State MW; King BH; Dykens E Department of Psychiatry and Biobehavioral Sciences, UCLA School of Medicine, USA. J Am Acad Child Adolesc Psychiatry (UNITED STATES) Dec 1997, 36 (12) p1664-71, ISSN 0890-8567 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW LITERATURE
OBJECTIVE: To review the literature over the past decade on mental retardation, particularly with respect to genetics and behavioral phenotypes. METHOD: A computerized search was performed for articles published in the past decade, and selected papers were highlighted. RESULTS: The study of mental retardation has benefited considerably by advances in medicine generally, and by developments in molecular neurobiology in particular. These advances in genetics have led to new insights regarding the causes of mental retardation, as well as a growing appreciation of behavioral phenotypes associated with some mental retardation syndromes. CONCLUSIONS: Although the study of developmental disorders has advanced significantly over the past decade, considerable work remains. Mental retardation should remain the model for the utility of the biopsychosocial approach in medicine. (100 Refs.)
Record 10Progressive left main coronary artery obstruction leading to myocardial infarction in a child with Williams syndrome. Bonnet D; Cormier V; Villain E; Bonhoeffer P; Kachaner J Service de Cardiologie Pediatrique, Hopital Necker/Enfants-Malades, Paris, France. Eur J Pediatr (GERMANY) Oct 1997, 156 (10) p751-3, ISSN 0340-6199 Languages: ENGLISH Document type: JOURNAL ARTICLE
We report a 3-year-old child with Williams syndrome in whom the first vascular feature of the syndrome was a myocardial infarction related to the occlusion of the left main coronary artery trunk. This coronary artery occlusion was not associated with supravalvular aortic stenosis. CONCLUSION: This report emphazises that acute vascular events related to systemic artery anomalies may reveal Williams syndrome.
Get your own Free Home Page