Get your own Free Home Page
Record 1Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. Mizugishi K; Yamanaka K; Kuwajima K; Kondo I Department of Pediatrics, Ibaraki Handicapped Children's Hospital, Japan. J Hum Genet (JAPAN) 1998, 43 (3) p178-81, ISSN 1434-5161 Languages: ENGLISH Document type: JOURNAL ARTICLE
Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S675 were not involved. Zackowski et al. (1990) reported that 6 of 16 patients with the interstitial deletion of 7q11.2-q22 had abnormal electro encephalograms, or seizures, or both, and that infantile spasms were present in 2 of the 6 patients. WS is a well defined developmental disorder characterized by distinct facial features, gregarious personality, and congenital heart defects. Seizures are not generally associated with this syndrome. WS commonly is characterized by deletion of the loci for ELN and D7S1870, but not those for D7S2490, D7S2518, or D7S2421. This suggests that a gene responsible for infantile spasms is located in the 2.7-cM interval between loci D7S1870 and D7S675.
Record 2Community care for adults with Williams syndrome: how families cope and the availability of support networks. Udwin O; Howlin P; Davies M; Mannion E Mary Sheridan Centre for Child Health, Lambeth Healthcare (NHS) Trust, London, England. J Intellect Disabil Res (ENGLAND) Jun 1998, 42 ( Pt 3) p238-45, ISSN 0964-2633 Languages: ENGLISH Document type: JOURNAL ARTICLE
A study of the adjustment difficulties and needs of 70 adults with Williams syndrome found that the majority continued to live at home and remained heavily dependent on their families for their self-care. Twenty-nine families (41.4%) had had no contact with a social worker in the preceding 2 years, and 34 out of the 48 families whose children still lived at home (70.8%) had no access to respite care. Advice regarding benefits, and appropriate living and occupational arrangements for the adults was also patchy. Despite progressive medical problems, and high rates of behavioural and emotional difficulties, only 20 adults (29%) were receiving regular health checks, while 21 (30%) had had some contact with a mental health service in the preceding 2 years. In the majority of cases, families continued to shoulder the main burden of care for their sons and daughters with Williams syndrome well into adulthood, with little support from statutory and voluntary agencies. The implications of these findings are considered with regard to the principles of community care.
Record 3Linguistic dissociations in Williams syndrome: evaluating receptive syntax in on-line and off-line tasks. Karmiloff-Smith A; Tyler LK; Voice K; Sims K; Udwin O; Howlin P; Davies M MRC Cognitive Development Unit and University College, London, UK. [email protected] Neuropsychologia (ENGLAND) Apr 1998, 36 (4) p343-51, ISSN 0028-3932 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome (WS) is a neurodevelopmental disorder of genetic origin which results in relatively spared language in the face of serious non-verbal deficits. There is controversy, however, about how intact WS language abilities are. The discussion has focused on impairments of lexico-semantics and of morphological feature analysis, with the presumption that WS syntax is intact. We challenged this view and assessed WS receptive syntax by using two tasks testing various syntactic structures: an on-line word monitoring task and an off-line picture-pointing task. WS performance on the off-line task was generally poor. By contrast, their performance on the on-line task was far better and allowed us to ascertain precisely which aspects of WS receptive syntax are preserved and which are impaired. WS participants were sensitive to the violation of auxiliary markers and phrase structure rules but, unlike both the normal young and elderly controls, they did not show sensitivity to violations of subcategory constraints. The present study suggests that there exist dissociations within WS language which are not restricted to lexico-semantics or to morphological feature analysis, but which also invade their processing of certain syntactic structures. We conclude by arguing that WS syntax is not intact and that their language might turn out to be more like second language learning than normal acquisition.
Record 4Genetic aspects of supravalvular aortic stenosis. Morris CA Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102, USA. Curr Opin Cardiol (UNITED STATES) May 1998, 13 (3) p214-9, ISSN 0268-4705 Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL
Supravalvular aortic stenosis (SVAS) occurs as an autosomal dominant trait or as part of the phenotype of the usually sporadic condition Williams syndrome. SVAS is the result of mutation or deletion of the elastin gene (ELN), located at chromosome 7q11.23. Thus, SVAS may be more appropriately termed an elastin arteriopathy. Studies have demonstrated various point mutations and intragenic deletions of ELN resulting in nonsyndromic SVAS. Individuals with Williams syndrome are hemizygous for the elastin gene, owing to a 1 to 2 megabase deletion of a portion of the long arm of chromosome 7 that encompasses ELN. This submicroscopic deletion is readily detected by fluorescent in-situ hybridization, useful in the diagnosis of Williams syndrome. The severity of SVAS is quite variable, both in series of Williams syndrome patients and within SVAS kindreds, suggesting that other genetic factors are involved in expression of the phenotype. Experiments with elastin knockout mice will likely yield clues regarding the role of elastin in arterial morphogenesis and the pathogenesis of obstructive vascular disease. (56 Refs.)
Get your own Free Home Page
