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Record 1Genetically dissociated components of working memory: evidence from Down's and Williams syndrome. Jarrold C; Baddeley AD; Hewes AK Centre for the Study of Memory and Learning, Department of Experimental Psychology, University of Bristol, UK. [email protected] Neuropsychologia (ENGLAND) Jun 1999, 37 (6) p637-51, ISSN 0028-3932 Languages: ENGLISH Document type: JOURNAL ARTICLE
Wang and Bellugi [J clin exp Neuropsychol 1994;16:317 22] have suggested that Down's and Williams syndrome might be associated with specific and contrasting working memory deficits; with impaired verbal short-term memory in Down's syndrome, and a visuo-spatial short-term memory deficit in Williams syndrome. In two studies we examine whether these apparent deficits might simply be a consequence of the general pattern of learning difficulties associated with these disorders. Experiment 1 compared verbal and visuo-spatial short-term memory abilities in these groups, using analysis of covariance to control for mental age differences. In Experiment 2 individuals with Williams syndrome were matched to control groups for non-verbal mental age, and the short-term memory abilities of these matched groups were compared. The results of both experiments are broadly consistent with those reported by Wang and Bellugi, and support the view that working memory can be dissociated into separate subsystems.
Record 2Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. Wang MS; Schinzel A; Kotzot D; Balmer D; Casey R; Chodirker BN; Gyftodimou J; Petersen MB; Lopez-Rangel E; Robinson WP Department of Medical Genetics, University of British Columbia, Vancouver, Canada. Am J Med Genet (UNITED STATES) Sep 3 1999, 86 (1) p34-43, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investigated for associations with clinical outcome. In an analysis of 85 confirmed deletion cases, no statistically significant associations were found after Bonferroni's correction for multiple pairwise comparisons. Furthermore, the present data do not support presence of imprinted genes in the WBS common deletion despite a nonsignificant excess of maternal over paternal deletions. Maternal deletion cases were more likely to have a large head circumference in the present data. Also, pairwise comparisons between individual WBS clinical features have been conducted and revealed significant associations between (1) low birth weight and poor postnatal weight gain (<10th percentile at the time of examination) and (2) transient infantile hypercalcemia and a stellate iris pattern. The latter association could indicate a common underlying etiology. Copyright 1999 Wiley-Liss, Inc.
Record 3Hypercalcemia of the newborn: etiology, evaluation, and management. Rodd C; Goodyer P Department of Pediatrics, McGill University, Montreal, Quebec, Canada. [email protected] Pediatr Nephrol (GERMANY) Aug 1999, 13 (6) p542-7, ISSN 0931-041X Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW OF REPORTED CASES
Hypercalcemia in infants is uncommon but has potentially serious sequelae. This review examines four cases of neonatal hypercalcemia, emphasizing appropriate investigations and treatment of acute and chronic hypercalcemia. The paper provides additional information as to the mechanisms of calcium dysregulation in idiopathic infantile hypercalcemia, Williams syndrome, vitamin D intoxication, and parathyroid and parathyroid-related protein disturbances. (35 Refs.)
Record 4Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome. Cammareri V; Vignati G; Nocera G; Beck-Peccoz P; Persani L Divisione di Pediatria, Presidio Ospedaliero M. Melloni, Milan, Italy. [email protected] Am J Med Genet (UNITED STATES) Aug 27 1999, 85 (5) p491-4, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE
A girl with Williams syndrome (WS) presented with elevated thyrotropin (TSH) levels (7.0 microU/ml), normal free thyroid hormone concentrations, and absent antithyroid autoantibodies. Thyroid ultrasonography and scintigraphy showed hemiagenesis of the left lobe and no evidence of ectopic tissue. TSH response to thyrotropin-releasing hormone (TRH) injection (200 microg/mq, i.v.) was exaggerated and prolonged, suggesting subclinical hypothyroidism. The biological activity of circulating TSH was slightly below the normal range [TSH bioactivity (B) to immunoreactivity (I) ratio (TSH B/I) = 0.4, normal: 0.6-2.2]. These abnormalities are similar to those seen in patients with hypothalamic hypothyroidism. Thyroid function is not a recognized manifestation of WS and is not routinely investigated. However, abnormalities of the hypothalamic-pituitary-thyroid (HPT) axis and thyroid dysgenesis have been found in other WS cases. Genes mapping at 7q11.23, contiguous to the chromosomal region deleted in most WS patients, may be involved in the development of the thyroid gland, contributing to the complex phenotype of WS. Copyright 1999 Wiley-Liss, Inc.
Record 5Clinical and behavioral characteristics in FG syndrome. Graham JM Jr; Superneau D; Rogers RC; Corning K; Schwartz CE; Dykens EM Ahmanson Department of Pediatrics, UCLA University Affiliated Program, International Skeletal Dysplasia Registry, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA. [email protected] Am J Med Genet (UNITED STATES) Aug 27 1999, 85 (5) p470-5, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE
FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974. Based on over 50 reported cases, FG syndrome is associated with agenesis of the corpus callosum, minor facial anomalies (high, broad forehead with frontal cowlick, ocular hypertelorism, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads. Affected individuals manifest neonatal hypotonia and severe constipation, which usually resolves during mid-childhood. The hypotonia with joint hyperlaxity evolves into spasticity with joint contractures in later life. Affability, hyperactivity, and excessive talkativeness are noted frequently in patients with FG syndrome. Recently, we described three additional families (six additional patients) with FG syndrome who support the localization of a gene for the FG syndrome in chromosome region Xq12-q21 [Graham JM Jr, Tackels D, Dibbern K, Superneau D, Rodgers C, Corning K, Schwartz CE. 1998. Am J Med Genet 80:145-156.]. Using these same families and one additional sporadic case of FG syndrome, we compared behavioral and personality characteristics of 6 FG boys with other boys with syndromic and nonsyndromic mental retardation: eight with Down syndrome, seven with Prader-Willi syndrome, eight with nonspecific mental retardation, and 13 with Williams syndrome. Using the Vineland Adaptive Behavior Scales, the Reiss Personality Profiles, and the Achenbach Child Behavior Checklist, parents were asked to characterize the behavior and personality of their boys from ages 4 to 10 years. When compared with Williams syndrome, the FG boys had fewer internalizing behaviors and were significantly less anxious and withdrawn but had similar socially oriented, attention-seeking behaviors. On the Reiss Profile, FG boys were also quite similar to Williams syndrome boys. On the Vineland Scales, FG boys demonstrated significant relative strengths in their socialization skills, consistent with their personality, tending to confirm previous descriptions of their personalities. Copyright 1999 Wiley-Liss, Inc.
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