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Record 1Intact perception of biological motion in the face of profound spatial deficits: Williams syndrome. Jordan Heather; Reiss Jason E; Hoffman James E; Landau Barbara Department of Psychology, University of Delaware, Newark 19716, USA. Psychological science : a journal of the American Psychological Society / APS (United States) Mar 2002, 13 (2) p162-7, ISSN 0956-7976 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
Williams syndrome (WS) is a rare genetic disorder that results in profound spatial cognitive deficits. We examined whether individuals with WS have intact perception of biological motion, which requires global spatial integration of local motion signals into a unitary percept of a human form. Children with WS, normal mental-age-matched children, and normal adults viewed point-light-walker (PLW) displays portraying a human figure walking to the left or right. Children with WS were as good as or better than control children in their ability to judge the walker's direction, even when it was masked with dynamic noise that mimicked the local motion of the PLW lights. These results show that mechanisms underlying the perception of at least some kinds of biological motion are unimpaired in children with WS. They provide the first evidence of selective sparing of a specialized spatial system in individuals with a known genetic impairment. Record Date Created: 20020405
Record 2A 1943 children's book illustration showing Williams syndrome? Oestreich Alan E Pediatric radiology (Germany) Aug 2002, 32 (8) p610, ISSN 0301-0449 Comment on Pediatr Radiol. 1991;21(7) 508-10; Comment on PMID 1771116 Document type: Comment; Letter Languages: ENGLISH Main Citation Owner: NLM Record type: Completed Record Date Created: 20020923
Record 3Demonstration of supravalvar aortic stenosis by different cardiac imaging modalities in Williams syndrome. Youn H-J; Chung W-S; Hong S-J [email protected] Heart (British Cardiac Society) (England) Oct 2002, 88 (4) p438, ISSN 1468-201X Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed Record Date Created: 20020916
Record 4[Williams syndrome: clinical, cytogenetical, neurophysiological and neuroanatomic study] Sindrome de Williams: estudio clinico, citogenetico, neurofisiologico y neuroanatomico. Aravena Teresa; Castillo Silvia; Carrasco Ximena; Mena Ismael; Lopez Javier; Rojas Juan P; Rosemberg Carol; Schroter Carolina; Aboitiz Francisco Seccion de Genetica, Hospital Clinico de la Universidad de Chile, Santos Dumont 999, 5o piso sector B. Independencia, Santiago, Chile. [email protected] Revista medica de Chile (Chile) Jun 2002, 130 (6) p631-7, ISSN 0034-9887 Document type: Journal Article ; English Abstract Languages: SPANISH Main Citation Owner: NLM Record type: Completed
BACKGROUND: Williams syndrome (WS) is a genetically based disorder caused by deletion of elastin and contiguous genes on chromosome 7q11.23. This syndrome is characterized by multiorganic involvement with dysmorphic facial features and a distinctive cognitive profile. It is an interesting model for elucidation of relationships between brain, cognition and genes. Patients have a visual-spatial cognition impaired with relative strengths in social and language abilities. AIM: To report clinical, cytogenetic, neurophysiological and neuroanatomic features in 44 patients referred as WS. PATIENTS AND METHODS: Forty four patients, aged 2 to 17 years, with the clinical diagnosis of Williams syndrome were studied with fluorescence in situ hybridization (FISH). In three cases, electrophysiological and neuroimaging studies were performed. RESULT: The deletion was confirmed in 23 patients. In three patients with neurophysiological studies, event related potentials suggested a cognitive difficulty in detecting and processing visual stimuli. Magnetic resonance imaging showed normal brain morphology. SPECT showed hypoperfusion of the right frontal lobe and bilateral anterior cingulum hyperperfusion. CONCLUSIONS: There are functional alterations in the brains of patients with Williams, which may be related to the cognitive deficits. Record Date Created: 20020826
Record 5Form and motion coherence processing in dyspraxia: evidence of a global spatial processing deficit. O'Brien Justin; Spencer Janine; Atkinson Janette; Braddick Oliver; Wattam-Bell John Department of Human Sciences, Brunel University, Uxbridge, Middlesex, UB8 3PH, UK. Neuroreport (England) Aug 7 2002, 13 (11) p1399-402, ISSN 0959-4965 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
Form and motion coherence was tested in children with dyspraxia and matched controls to assess their global spatial and global motion processing abilities. Thresholds for detecting form coherence patterns were significantly higher in the dyspraxic group than in the control group. No corresponding difference was found on the motion coherence task. We tested eight children with dyspraxic disorder (mean age 8.2 years) and 50 verbal-mental-age matched controls (mean age 8.4 years) to test for a neural basis to the perceptual abnormalities observed in dyspraxia. The results provide evidence that children with dyspraxia have a specific impairment in the global processing of spatial information. This finding contrasts with other developmental disorders such as Williams syndrome, autism and dyslexia where deficits have been found in global motion processing and not global form processing. We conclude that children with dyspraxia may have a specific occipitotemporal deficit and we argue that testing form and motion coherence thresholds might be a useful diagnostic tool for the often coexistent disorders of dyspraxia and dyslexia. Record Date Created: 20020808
Record 6Mitral regurgitation without supravalvular aortic stenosis in Williams syndrome. Takagi H; Mori Yoshio; Iwata Hisashi; Umeda Yukio; Fukumoto Yukiomi; Matsuno Yukihiro; Matsutomo Masasumi; Shimokawa Kuniyasu; Nishigaki Kazuhiko; Fujiwara Hisayoshi; Hirose Hajime First Department of Surgery, Gifu University School of Medicine, 40 Tsukasa, Gifu 500-8705, Japan. [email protected] Heart and vessels (Japan) Sep 2002, 16 (6) p257-9, ISSN 0910-8327 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: In Process
Isolated mitral regurgitation without supravalvular aortic stenosis is rarely identified in Williams syndrome. We describe the case of a 24-year-old man with isolated mitral regurgitation in Williams syndrome. Severe regurgitation due to prolapse of the anterior leaflet was noted in an echocardiogram and color Doppler, and a left ventriculogram showed grade IV regurgitation. No pressure gradient between the left ventricle and the ascending aorta was found. Mitral regurgitation had been noted since his birth, and pediatricians suspected Williams syndrome because of postnatal growth deficiency, mental deficiency, unusual personality, and unusual facial features in his childhood. The diagnosis was confirmed by demonstration of the hemizygous deletion of 7q11.23 in the karyotype by the fluorescent in situ hybridization technique after his admission to our department. The patient underwent mitral valve replacement, and microscopic examination of the excised valve revealed myxomatous degeneration. Record Date Created: 20021016
Record 7Narrative analysis in developmental social and linguistic pathologies: dissociation between emotional and informational language use. Pearlman-Avnion Shiri; Eviatar Zohar Institute of Information Processing and Decision Making, University of Haifa, Israel. [email protected] Brain and cognition (United States) Mar-Apr 2002, 48 (2-3) p494-9, ISSN 0278-2626 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
This study examined the use of emotional and informational aspects of language in populations that demonstrate developmental social-emotional and linguistic pathologies. We tested high-functioning autistic (HFA) individuals because this group reveals deficiencies in social-emotional and informative aspects of language as well as abnormalities in sociability. We tested Williams syndrome (WS) individuals because of the claim that the social-emotional aspects of language use and sociability are differentially preserved in the context of mental retardation. We compared the performance of these two groups with two groups of control children (7- and 11-year-olds). All of the participants viewed a slide show depicting an event and were asked to retell the story. These narratives were coded for emotional and informational elements. The results showed that on measures of emotional elements, the WS group patterned with the control groups and only the HFA participants received lower scores, while on the informational elements, the two pathological groups did not differ, and both were lower than the controls. The results suggest that the preservation of language among WS individuals is specific for the emotional aspects of language. Record Date Created: 20020527
Record 8Inflectional morphology in German Williams syndrome. Krause Marion; Penke Martina Institut fuer Sprache und Information, Universitaet Duesseldorf, Germany. [email protected] Brain and cognition (United States) Mar-Apr 2002, 48 (2-3) p410-3, ISSN 0278-2626 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
In a recent paper, Clahsen and Almazan (1998) reported a dissociation between unimpaired regular and impaired irregular past tense morphology in English Williams syndrome (WS). Our aim is to investigate whether these findings carry over to another language with different morphological systems. We present data on regular and irregular participles and noun plurals from 2 German WS subjects and 10 controls matching in mental age. For noun plurals, regular morphology is intact in WS, whereas irregular forms are impaired. A similar dissociation is observed for participles: while regular inflection is unimpaired, WS subjects, unlike controls, apply the regular suffix incorrectly to frequent irregular verbs. We discuss our findings against the current debate between connectionist and dualistic approaches to the language faculty. Record Date Created: 20020527
Record 9Central precocious puberty in girls with Williams syndrome. Partsch Carl-Joachim; Japing Insa; Siebert Reiner; Gosch Angela; Wessel Armin; Sippell Wolfgang G; Pankau Rainer University Hospital Kiel, Christian-Albrechts-Universitat zu Kiel, Germany. Journal of pediatrics (United States) Sep 2002, 141 (3) p441-4, ISSN 0022-3476 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
We report an estimated prevalence of precocious puberty of 1 in 5 to 6 girls with Williams syndrome (18.3%). Mean menarcheal age of 86 girls with Williams syndrome was 11.5 +/- 1.7 (+/-SD) years. Distribution of menarcheal age was significantly different from that in normal girls (12.9 +/- 1.1 years; n = 759). Record Date Created: 20020909
Record 10Williams syndrome: neuronal size and neuronal-packing density in primary visual cortex. Galaburda Albert M; Holinger Dorothy P; Bellugi Ursula; Sherman Gordon F Beth Israel Deaconess Medical Center, 330 Brookline Ave, Boston, MA 02215, USA. [email protected] Archives of neurology (United States) Sep 2002, 59 (9) p1461-7, ISSN 0003-9942 Document type: Journal Article Languages: ENGLISH Main Citation Owner: NLM Record type: Completed
BACKGROUND: Williams syndrome (WMS) is a rare, genetically based syndrome associated with a hemideletion in chromosome 7 (7q11.22-23) and characterized by a unique constellation of somatic, brain, and cognitive features. Individuals with WMS demonstrate an unusual and uneven neuropsychological profile showing cognitive and visual spatial deficits juxtaposed with relative language preservation and excellent facial recognition. OBJECTIVES: A neuroanatomical hypothesis for these behavioral findings suggests predominant involvement of the dorsal portions of the hemispheres relative to the ventral portions, including preferential involvement of peripheral visual field cortical representations over central representation. Predominant involvement of magnocellular visual pathways, as opposed to parvocellular pathways, is also suggested by this hypothesis. SUBJECTS: We examined primary visual cortical area 17 in the right and left hemispheres in 6 age- and sex-matched autopsy specimens from 3 WMS-affected brains (1 male and 2 females; mean [SD] age, 44 [14] years) and 3 control brains (1 male and 2 females; mean age, 43 [11] years). DESIGN: Neurons in layers II, III, IVA, IVB, IVCalpha, IVCbeta, V, and VI were measured using an optical dissector method to determine possible differences between WMS-affected and control brains in cell-packing density, neuronal size, and neuronal size distribution. RESULTS: We found abnormalities in peripheral visual cortex in WMS-affected brains, but not in magnocellular subdivisions. There was a hemisphere by layer IV interaction and a layer IV left hemisphere and diagnosis interaction in cell-packing density. Williams syndrome-affected brains showed increased cell-packing density in left sublayer IVCbeta and an excess of small neurons in left layers IVA, IVCalpha, IVCbeta, V, and VI. CONCLUSIONS: Cell measurements differ in peripheral visual cortical fields of WMS, with significantly smaller, more closely packed cells in some layers on the left side. These cell-packing density and neuronal size differences may be related to visuospatial deficits in this population. Record Date Created: 20020911
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