1: J Child Psychol Psychiatry. 2003 May;44(4):576-87.

Word reading and reading-related skills in adolescents with Williams syndrome.

Levy Y, Smith J, Tager-Flusberg H.

Psychology Department, The Hebrew University, Jerusalem, Israel.

BACKGROUND: Individuals with Williams syndrome have good spontaneous language despite low levels of intelligence. This study explores the relationship between intelligence, word decoding and reading-related skills in 20 individuals with Williams syndrome.
METHODS: In addition to the KBIT, the participants were administered standardized measures of reading, vocabulary, rapid naming, phonological skills and an experimental measure of rhyme judgement.
RESULTS: There was wide variability in the reading achievement among the individuals with WS. While some participants were unable to recognize letters of the alphabet, others scored within the normal range of tests of single word reading and decoding. Reading scores were correlated with intelligence as measured on KBIT matrices but not with the vocabulary measures. Reading also correlated with phonological awareness tasks yet, surprisingly, not with rapid naming.
CONCLUSION: It is suggested that in individuals with retardation, intelligence rather than language and language-related skills predict achievements in word reading.

PMID: 12751849 [PubMed – in process]

2: J Exp Child Psychol. 2003 May;85(1):50-62.

What makes counting count? Verbal and visuo-spatial contributions to typical and atypical number development.

Ansari D, Donlan C, Thomas MS, Ewing SA, Peen T, Karmiloff-Smith A.

Neurocognitive Development Unit, Institute of Child Health, University College, 30, Guilford Street, WC1N 1EH, London, UK

Williams Syndrome (WS) is marked by a relative strength in verbal cognition coupled with a serious impairment in non-verbal cognition. A strong deficit in numerical cognition has been anecdotally reported in this disorder; however, its nature has not been systematically investigated. Here, we tested 14 children with WS (mean age=7 years 2 months), 14 typically developing controls individually matched on visuo-spatial ability (mean age=3 years 5 months) as well as a larger group of typically developing controls (mean age=3 years 4 months) on two tasks to assess their understanding that counting determines the exact quantity of sets (cardinality principle). The understanding of the cardinality principle in children with WS is extremely delayed and only at the level predicted by their visuo-spatial MA. In this clinical group, only language accounted for a significant amount of the variance in cardinality understanding, whereas in the normal comparison group only visuo-spatial competence predicted the variance. The present findings suggest that visuo-spatial ability plays a greater role than language ability in the actual development of cardinality understanding in typically developing children, whereas the opposite obtains for the clinical group.

PMID: 12742762 [PubMed – in process]

3: Heart. 2003 May;89(5):e15.

Williams syndrome associated with complete atrioventricular septal defect.

Nakamoto S, Saga T, Shinohara T.

Department of Cardiovascular Surgery, Kinki University School of Medicine, Osaka, Japan. snakamot@med.kindai.ac.jp

Williams syndrome is a genetic disorder associated with characteristic facies, supravalvar aortic stenosis, peripheral pulmonary stenosis, mental retardation, hypertension, premature aging of skin, and congenital cardiac defects. Many cardiac defects such as bicuspid aortic valve, mitral valve regurgitation, coarctation of the aorta, and ventricular or atrial septal defects are linked to the syndrome. Complete atrioventricular septal defect has rarely been associated with Williams syndrome and only one necropsy case has been reported in the literature. The long term follow up of Williams syndrome associated with complete atrioventricular septal defect is reported. During a 10 year follow up period, the pressure gradient in the ascending aorta did not increase despite narrowing of the ascending aorta as identified on an aortogram.

PMID: 12695480 [PubMed – indexed for MEDLINE]

4: Cognit Psychol. 2003 May;46(3):260-301.

Spatial breakdown in spatial construction: evidence from eye fixations in children with Williams syndrome.

Hoffman JE, Landau B, Pagani B.

Department of Psychology, University of Delaware, Newark, DE 19716, USA. hoffman@udel.edu

We investigated the role of executive and spatial representational processes in impaired performance of block construction tasks by children with Williams syndrome (WS), a rare genetic defect that results in severely impaired spatial cognition. In Experiment 1, we examined performance in two kinds of block construction tasks, Simple Puzzles, in which block faces contained a single color, and Complex, in which some block faces contained an arrangement of two colors. WS and control children were comparable in their ability to solve simple puzzles, and showed similar eye-fixation patterns, suggesting that basic executive processes were intact. However, WS children were severely impaired in their ability to solve complex puzzles. In these puzzles, WS children fixated the complex puzzle models and checked their partial solutions less often than normal children, but they were comparable in their ability to detect errors in their copies and almost exclusively made repairs to copies that were, in fact, incorrect. We conjecture that the abnormal fixation patterns were a consequence of impoverished spatial representations, rather than a cause of it. This conjecture was tested in Experiment 2, where we examined children’s capacity to match and place individual blocks without engaging the complex executive processes required to carry out a complete puzzle solution. We found serious deficiency among WS children in both aspects of spatial representation.
Moreover, estimates of the errors in representing the identity and location of model blocks derived from Experiment 2 provided a good account of the observed errors in the block construction task of Experiment 1.

PMID: 12694695 [PubMed – indexed for MEDLINE]

5: Am J Med Genet. 2003 May 1;118A(4):372-6.

Portal hypertension in Williams syndrome: Report of two patients.

Casanelles Mdel C, Gil-Fernandez JJ, Casero LF, Bengoechea MG, Serrano R, Ranada JM, Jurado LA.

Genetics Unit, Department of Experimental Sciences, Universitat Pompeu Fabra,Barcelona, Spain.

Williams or Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations characterized by distinctive facial features, mental disability with unique cognitive and personality profiles, vascular stenoses, growth retardation, and occasional infantile hypercalcemia, caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. However, with the exception of arterial stenoses caused by haploinsufficiency for the elastin gene (ELN), no specific implication of any other gene in the phenotype has been established. We present two patients with portal hypertension leading to splenomegaly and pancytopenia carrying the common 1.5 Mb WBS deletion. We propose this is an additional severe vascular complication of ELN deficiency and discuss the specific characteristics of the portal venous tract that could explain the impact of ELN deficiency in that venous territory. This complication is potentially lethal and should thus be considered in any patient with WBS and splenomegaly. Copyright 2003 Wiley-Liss, Inc.

PMID: 12687671 [PubMed – in process]