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Record 1Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome. Wouters CH; Meijers-Heijboer HJ; Eussen BJ; van Der Heide AA; van Luijk RB; van Drunen E; Beverloo BB; Visscher F; Van Hemel JO Department of Clinical Genetics, University Hospital Dijkzigt and Erasmus University, Rotterdam, The Netherlands. American journal of medical genetics (United States) Aug 15 2001, 102 (3) p261-5, ISSN 0148-7299 Languages: ENGLISH Document type: Journal Article Record type: In Process
We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22. Subsequent fluorescence in situ hybridization (FISH) experiments showed that it consisted of satellite material only. Refinement of the 7q36 breakpoint was performed with several FISH probes, showing a deletion distal to the triphalangeal thumb (TPT) region. The phenotype of the patient principally results from the microdeletion of the 7q11.23; the small deletion at 7qter and the extra satellite material may not be of clinical significance. Copyright 2001 Wiley-Liss, Inc. Record Date Created: 20010802
Record 2Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in Williams-Beuren syndrome. Durkin ME; Keck-Waggoner CL; Popescu NC; Thorgeirsson SS Laboratory of Experimental Carcinogenesis, National Cancer Institute, Bethesda, Maryland 20892, USA. marian [email protected] Genomics (United States) Apr 1 2001, 73 (1) p20-7, ISSN 0888-7543 Languages: ENGLISH Document type: Journal Article Record type: Completed
Transgenic mice expressing c-myc under the control of the albumin promoter and enhancer develop liver tumors and have served as a useful model for studying the progression of hepatocarcinogenesis. The chromosomes of one line of c-myc transgenic mice carry the reciprocal translocation t(5;6)(G1;F2) adjacent to the transgene insertion site on the 5G1-ter segment translocated to chromosome 6. To characterize the genomic alterations in the c-myc transgenic animals, we have cloned the mouse DNA flanking the transgene array. By linkage mapping, the transgene integration site was localized to the region of distal chromosome 5 syntenic to the region on human chromosome 7q11.23 that is hemizgygously deleted in Williams-Beuren syndrome, a multisystemic developmental disorder. Comparison of the genomic DNA structure in wildtype and transgenic mice revealed that the transgene integration had induced an approximately 40-kb deletion, starting downstream of the Cyln2 gene and including the first exon of the Gtf2ird1 gene. Gtf2ird1 encodes a polypeptide related to general transcription factor TFII-I, and it is the mouse orthologue of GTF2IRD1 (WBSCR11), one of the genes commonly deleted in Williams-Beuren syndrome patients. Loss of the 5' end of the Gtf2ird1 gene resulted in greatly reduced expression of Gtf2ird1 mRNA in mice homozygous for the transgene. Record Date Created: 20010515
Record 3Genetics of childhood disorders: XXVII. Genes and cognition in Williams syndrome. Osborne L; Pober B Department of Medicine, University Health Network and the University of Toronto, Canada. Journal of the American Academy of Child and Adolescent Psychiatry (United States) Jun 2001, 40 (6) p732-5, ISSN 0890-8567 Languages: ENGLISH Document type: Journal Article Record type: Completed Record Date Created: 20010605
Record 4American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics (United States) May 2001, 107 (5) p1192-204, ISSN 1098-4275 Journal Code: OXV Languages: ENGLISH Document type: Guideline; Journal Article; Practice Guideline Record type: Completed
This set of guidelines is designed to assist the pediatrician to care for children with Williams syndrome diagnosed by clinical features and with regional chromosomal microdeletion confirmed by fluorescence in situ hybridization. Record Date Created: 20010524
Record 5Genetics of childhood disorders: XXVI. Williams syndrome and brain-behavior relationships. Schultz RT; Grelotti DJ; Pober B Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA. Journal of the American Academy of Child and Adolescent Psychiatry (United States) May 2001, 40 (5) p606-9, ISSN 0890-8567 Languages: ENGLISH Document type: Journal Article Record type: Completed United States) May 2001, 40 (5) p606-9, ISSN 0890-8567 Record Date Created: 20010514
Record 6Procedural learning deficit in children with Williams syndrome. Vicari S; Bellucci S; Carlesimo GA IRCCS, Ospedale Pediatrico Bambino Gesu, Sevizio di Neuro e Riabilitazione, Lungomare Guglielmo Marconi 36, I-00058, Santa Marinella, Rome, Italy. [email protected] Neuropsychologia (England) 2001, 39 (7) p665-77, ISSN 0028-3932 Languages: ENGLISH Document type: Journal Article Record type: Completed
The present study was aimed at evaluating implicit memory processes in subjects with Williams syndrome (WS) and comparing them to mental-age (MA) matched normal children. For this purpose, tests of verbal and visuo-perceptual explicit memory, verbal and visual repetition priming as well as procedural learning tasks were administered to 12 WS and 12 MA matched subjects. WS subjects showed a level of repetition priming similar to that of MA normal controls. In contrast, WS children showed a reduced learning rate in the two procedural tasks. Although deficient explicit memory and executive dysfunction cannot be excluded from the performance of WS subjects, these results suggest a specific deficit of procedural learning in this particular group of mentally retarded children. This finding is relevant for our knowledge about the qualitative aspects of the anomalous cognitive development in mentally retarded people and the neurobiological substrate underlying this development. Record Date Created: 20010420
Record 7Drawing abilities in Williams syndrome: a case study. Stiles J; Sabbadini L; Capirci O; Volterra V Department of Cognitive Science 0515, University of California, San Diego, La Jolla, CA 92093-0515, USA. [email protected] Developmental neuropsychology (United States) 2000, 18 (2) p213-35, ISSN 8756-5641 Languages: ENGLISH Document type: Journal Article Record type: Completed
Children with Williams syndrome (WS) have been reported to exhibit an unusual cognitive profile characterized by marked preservation of linguistic abilities and poor visuospatial abilities against a backdrop of generalized mental retardation. Much of the data documenting this profile come from studies of older children and adults with WS. Very few studies have reported findings from the preschool and early school-age period. As a result, little is known about the early development of cognitive processes in children with WS. Capirci, Sabbadini, and Volterra (1996) reported data from a longitudinal case study of early language development in a young child with WS. This article presents the longitudinal profile of visuospatial abilities in this same child. Data on copying and free drawing collected over a period extending from late preschool to early school age are reported. It is clear from these data that this child does indeed exhibit deficits in visuospatial abilities. Her performance clearly improved with age, but deficits persist. Record Date Created: 20010402
Record 8Drawings by individuals with Williams syndrome: are people different from shapes? Dykens EM; Rosner BA; Ly TM Neuropsychiatric Institute and Hospital, Division of Child and Adolescent Psychiatry, University of California, Los Angeles 90024-1759, USA. American journal of mental retardation (United States) Jan 2001, 106 (1) p94-107, ISSN 0895-8017 Languages: ENGLISH Document type: Journal Article Record type: Completed
Because it is unclear whether people with Williams syndrome produce drawings that are delayed or deviant, we examined these two possibilities in Draw a Person and figure copying tasks (VMI) in 28 persons with Williams syndrome, 28 with mixed etiologies, and 28 with Down syndrome. All human figures could be classified into discrete stages of drawing development, and in all groups, drawing tasks were significantly correlated with MA. Human figures from participants with Williams syndrome were no more deviant than their counterparts, nor did they show "local-global" differences. Draw a Person scores exceeded VMI scores in the Williams syndrome group, whereas the Down syndrome group showed relative strengths on both drawing tasks, and the mixed group had no profile. Developmental and phenotypic implications of findings are discussed. Record Date Created: 20010314
Record 9Adaptive behavior of 4- through 8-year-old children with Williams syndrome. Mervis CB; Klein-Tasman BP; Mastin ME Department of Psychological and Brain Sciences, University of Louisville, KY 40292, USA. [email protected] American journal of mental retardation (United States) Jan 2001, 106 (1) p82-93, ISSN 0895-8017 Languages: ENGLISH Document type: Journal Article Record type: Completed
The adaptive behavior of forty-one 4- through 8-year-olds with Williams syndrome was assessed using the Vineland Adaptive Behavior Scales-Interview Edition. Based on the cognitive and personality profiles characteristic of children with this syndrome, we predicted that the domains of Socialization and Communication would be relative strengths, whereas Daily Living Skills and Motor Skills would be relative weaknesses. We also expected that Socialization Skills would be more advanced than Communication skills, and that within the Socialization domain, interpersonal skills would be stronger than play/leisure or coping skills. All predictions were confirmed. Adaptive behavior standard score was not related to CA. The children earned similar overall standard scores on the Vineland and the Differential Ability Scales. Interrelations among adaptive behavior, cognitive abilities, and personality characteristics are discussed. Record Date Created: 20010314
Record 10 Longitudinal course of behavioral and emotional problems in Williams syndrome. Einfeld SL; Tonge BJ; Rees VW University of New South Wales, Sydney, Australia. [email protected] American journal of mental retardation (United States) Jan 2001, 106 (1) p73-81, ISSN 0895-8017 Languages: ENGLISH Document type: Journal Article Record type: CompletedA follow-up study of behavior and emotional problems in a cohort of young people with Williams syndrome 5 years after first assessment is described. Using a between-/within-subjects factorial layout, we compared scores on the Developmental Behaviour Checklist between young people with Williams syndrome and a large epidemiological control sample of young people with mental retardation due to other causes from Time 1 (1990/1991) to Time 2 (1995/1996). Results showed substantial persistence of the overall level of behavior and emotional problems. However, there were changes in certain types of behavior. Participants with Williams syndrome had significantly higher overall behavioral and emotional problems, communication disturbance, and anxiety over the 5-year period. Further, 10 or 13 checklist items maintained significantly higher levels among the Williams syndrome sample. Record Date Created: 20010314
Record 11Treating food refusal in a child with Williams syndrome using the parent as therapist in the home setting. O'Reilly MF; Lancioni GE National University of Ireland, Dublin, Ireland. [email protected] Journal of intellectual disability research (England) Feb 2001, 45 (Pt 1) p41-6, ISSN 0964-2633 Languages: ENGLISH Document type: Journal Article Record type: Completed
The present authors examined the effectiveness of a behavioural intervention which included escape extinction and differential reinforcement of each bite eaten to treat non-organic food refusal in a child with Williams syndrome. The intervention was implemented by the child's mother in the home during normal meal schedules. The child was not allowed to leave the meal situation for a predetermined time period and was praised by the mother for each bite consumed. The intervention was evaluated using a multiple baseline design across meals (i.e. breakfast and lunch). The results demonstrate an increase in food consumed and decreases in other inappropriate behaviours. The mother continued to implement the treatment successfully during follow-up assessments up to 3 months after the intervention. This is a minimally intrusive intervention in comparison to typical treatments for non-organic food refusal in children with intellectual disabilities. Record Date Created: 20010222
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