Treatment of hyperacusis in Williams syndrome with bilateral conductive hearing loss. Miani C; Passon P; Bracale A M; Barotti A; Panzolli N Surgical Sciences Department, University of Udine School of Medicine, Italy. [email protected] European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngolog (Germany) Sep 2001, 258 (7) p341-4, ISSN 0937-4477 Languages: ENGLISH Document type: Journal Article Record type: Completed
Williams syndrome (WS)is a rather rare congenital disorder characterised by a series of cardiovascular, maxillo-facial and skeletal abnormalities. It sometimes displays otorhinolaryngological symptoms because of the relatively high incidence of secretory otitis media and hyperacusis, which may be present in up to 95% of patients. The present paper describes a case of WS associated with bilateral conductive hearing loss which was not related to secretory otitis media. Hyperacusis was, moreover, present in spite of the conductive deafness. Surgical or prosthetic treatment of hearing loss was delayed because of hyperacusis. Treatment of the hyperacusis by acoustic training, instead, yielded excellent, long-lasting remission of the symptoms. Record Date Created: 20011108
Record 2Surgical repair of congenital supravalvular aortic stenosis in children. Brown John W; Ruzmetov Mark; Vijay Palaniswamy; Turrentine Mark W Section of Cardiothoracic Surgery, James W. Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202-5123, USA. [email protected] European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery (England) Jan 2002, 21 (1) p50-6, ISSN 1010-7940 Languages: ENGLISH Document type: Journal Article Record type: Completed
OBJECTIVE: Supravalvular aortic stenosis (SVAS)is an uncommon congenital cardiac anomaly characterized by varying degrees of left ventricular outflow tract obstruction beginning distal to the aortic valve. METHODS: Between March 1962 and December 2000, 101 consecutive patients underwent surgical correction for congenital SVAS at Riley Children's Hospital. There were 61 male (60%) and 40 female (40%) ranging in age from 3 month to 17 years (medium age, 6.1 years). Fourteen patients (14%) had Williams syndrome. Preoperatively, 11 patients were in New York Heart Association (NYHA) functional class I, 55 in class II, 28 in class III, and seven in class IV. Of the 101 patients, 73 (72%) had localized type SVAS and 28 (28%) diffuse type SVAS. RESULTS: Those with localized SVAS were successfully treated with patch aortoplasty, whereas those with diffuse SVAS required either an apical aortic conduit or extensive endarterectomy with patch aortoplasty. The overall mean pressure gradient was reduced to 21 mmHg (P<0.001) in the early postoperative period. There were one early death (<30 days postoperatively) (1%), two (2%) late deaths, and 14 patients (14%) underwent one or two additional operation (n=17) in a follow-up period ranging from 6 months to 30 years (medium 9.4 years). Postoperatively, there were 72 patients (73%) in NYHA functional class I and 26 (27%) in class II. Overall survival including operative mortality was 98% at 10 years, 97% at 20 and at 30 years. CONCLUSION: Good surgical outcome of congenital SVAS can be achieved with the appropriate method of treatment in patients with both localized and diffuse SVAS. Record Date Created: 20020114
Record 3Anomalies of the abdominal aorta in Williams-Beuren syndrome--another cause of arterial hypertension. Rose C; Wessel A; Pankau R; Partsch C J; Bursch J Department of Paediatric Cardiology, University Hospital Gottingen, Germany. [email protected] European journal of pediatrics (Germany) Nov 2001, 160 (11) p655-8, ISSN 0340-6199 Languages: ENGLISH Document type: Journal Article Record type: Completed
Vascular disease in Williams-Beuren syndrome is based on an elastin arteriopathy which may cause stenoses in small and great vessels. This study presents the pattern of stenotic lesions of the abdominal aorta and the incidence of arterial hypertension. From 112 patients with Williams-Beuren syndrome followed since 1975, 25 patients were studied by aortography. The diameter of the thoracic aorta and the change in diameter to the iliac bifurcation were compared with normal data. Renal artery stenosis was suspected when the proximal vessel diameter was less than 50% of the distal diameter. Of the 25 patients, 20 had vascular stenosis of whom 19 patients were affected by segmental narrowing either of the thoracic aorta (n=9) or the abdominal aorta (n = 7) or both (n = 3). Hypoplasia of the abdominal aorta was characterised by the smallest diameters at the renal artery level and an increased diameter of the infrarenal abdominal aorta. A total of 11 patients had renal arterial stenosis, associated with narrowing of other aortic segments in 10 cases. Only one patient had a solitary stenosis of the renal artery. Arterial hypertension was diagnosed in 17 patients, 2 of them had no vascular lesions; in the remaining 15 patients stenosis was present in more than one segment (aorta 6, renal artery stenosis 1, both 8). CONCLUSION: Narrowing of the abdominal aorta in patients with Williams-Beuren syndrome is a frequent morphological manifestation of the arteriopathy. Isolated renal arterial stenosis was rare, since it was more frequently combined with a narrowed aorta. Hypertension is a common symptom in the affected group and must be regarded as a manifestation of generalised arteriopathy rather than renal hypoperfusion. Record Date Created: 20011210
Record 4Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affect. Hopyan T; Dennis M; Weksberg R; Cytrynbaum C Department of Psychology, The Hospital of Sick Children, University of Toronto, Canada. Neuropsychology, development, and cognition. Section C, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence (Netherlands) Mar 2001, 7 (1) p42-53, ISSN 0929-7049 Languages: ENGLISH Document type: Journal Article Record type: Completed
This paper studied music in 14 children and adolescents with Williams-Beuren syndrome (WBS), a multi-system neurodevelopmental disorder, and 14 age-matched controls. Five aspects of music were tested. There were two tests of core music domains, pitch discrimination and rhythm discrimination. There were two tests of musical expressiveness, melodic imagery and phrasing. There was one test of musical interpretation, the ability to identify the emotional resonance of a musical excerpt. Music scores were analyzed by means of logistic regressions that modeled outcome (higher or lower music scores) as a function of group membership (WBS or Control) and cognitive age. Compared to age peers, children with WBS had similar levels of musical expressiveness, but were less able to discriminate pitch and rhythm, or to attach a semantic interpretation to emotion in music. Music skill did not vary with cognitive age. Musical strength in individuals with WBS involves not so much formal analytic skill in pitch and rhythm discrimination as a strong engagement with music as a means of expression, play, and, perhaps, improvisation. Record Date Created: 20020129
Record 5William's syndrome. Patel A B; Renge R L Department of Pediatrics and Clinical Epidemiology Unit, Indira Gandhi Medical College, Nagpur, India. Indian pediatrics (India) Dec 2001, 38 (12) p1427, ISSN 0019-6061 Languages: ENGLISH Document type: Journal Article Record type: Completed Record Date Created: 20011225
Record 6Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome. DeSilva Udaya; Elnitski Laura; Idol Jacquelyn R; Doyle Johannah L; Gan Weiniu; Thomas James W; Schwartz Scott; Dietrich Nicole L; Beckstrom-Sternberg Stephen M; McDowell Jennifer C; Blakesley Robert W; Bouffard Gerard G; Thomas Pamela J; Touchman Jeffrey W; Miller Webb; Green Eric D Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. Genome research (United States) Jan 2002, 12 (1) p3-15, ISSN 1088-9051 Languages: ENGLISH Document type: Journal Article Record type: Completed
Williams syndrome is a complex developmental disorder that results from the heterozygous deletion of a approximately 1.6-Mb segment of human chromosome 7q11.23. These deletions are mediated by large (approximately 300 kb) duplicated blocks of DNA of near-identical sequence. Previously, we showed that the orthologous region of the mouse genome is devoid of such duplicated segments. Here, we extend our studies to include the generation of approximately 3.3 Mb of genomic sequence from the mouse Williams syndrome region, of which just over 1.4 Mb is finished to high accuracy. Comparative analyses of the mouse and human sequences within and immediately flanking the interval commonly deleted in Williams syndrome have facilitated the identification of nine previously unreported genes, provided detailed sequence-based information regarding 30 genes residing in the region, and revealed a number of potentially interesting conserved noncoding sequences. Finally, to facilitate comparative sequence analysis, we implemented several enhancements to the program, including the addition of links from annotated features within a generated percent-identity plot to specific records in public databases. Taken together, the results reported here provide an important comparative sequence resource that should catalyze additional studies of Williams syndrome, including those that aim to characterize genes within the commonly deleted interval and to develop mouse models of the disorder. Record Date Created: 20020107
Record 7Single signal of the Williams syndrome chromosome region 1 gene in hyperploidic bone marrow cells of acute lymphoblastic leukemia in a Williams syndrome patient. Culic Vida; Culic Srdjana; Armanda Visnja; Resic Biserka; Lasan Ruzica; Peterlin Borut Department of Developmental Neurology and Medical Genetics, Clinical Hospital Split, Pediatrics Clinic, Split, Croatia. Medical and pediatric oncology (United States) Mar 2002, 38 (3) p205-7, ISSN 0098-1532 Journal Code: 7506654 Languages: ENGLISH Document type: Journal Article Record type: In Process Record Date Created: 20020211
Record 8Learning to read in Williams syndrome: looking beneath the surface of atypical reading development. Laing E; Hulme C; Grant J; Karmiloff-Smith A Neurocognitive Development Unit, Institute of Child Health, London, UK. [email protected] Journal of child psychology and psychiatry, and allied disciplines (England) Sep 2001, 42 (6) p729-39, ISSN 0021-9630 Languages: ENGLISH Document type: Journal Article Record type: Completed
In this paper, we make a fundamental distinction between literacy attainment scores and the actual process of learning to read, and examine these two aspects of reading in atypical development. Reading skills in a group of children and adults with the genetic disorder Williams syndrome (WS) were compared to a group of typically developing children matched for reading age and receptive vocabulary scores. Study 1 focused on the product of reading and explored the relationship between reading, general cognition, and phonological skills. Phonological skills were shown to be related to individual differences in reading attainment in both groups, although more weakly in the WS group. Experiment 2 examined the process of learning to read. The two groups were taught to associate abbreviated spellings (cues) with spoken words. The cues differed in their phonetic closeness to the target words, whereas the target words differed on the semantic variable of imageability. Compared to controls, the WS group showed slower learning, less sensitivity to the phonetic quality of the cue, and reduced influence from the imageability of words. The results support the hypothesis that although reading levels in WS depend on phonological skills, the full development of their reading is compromised by weak semantics. The studies highlight the importance in atypical populations of examining both reading levels and the actual process of learning to read. Record Date Created: 20011003
Record 9Block design performance in the Williams syndrome phenotype: a problem with mental imagery? Farran E K; Jarrold C; Gathercole S E Department of Experimental Psychology, University of Bristol, UK. [email protected] Journal of child psychology and psychiatry, and allied disciplines (England) Sep 2001, 42 (6) p719-28, ISSN 0021-9630 Languages: ENGLISH Document type: Journal Article Record type: Completed
Williams syndrome (WS) is a rare genetic disorder which, among other characteristics, has a distinctive cognitive profile. Nonverbal abilities are generally poor in relation to verbal abilities, but also show varying levels of ability in relation to each other. Performance on block construction tasks represents arguably the weakest nonverbal ability in WS. In this study we examined two requirements of block construction tasks in 21 individuals with WS and 21 typically developing (TD) control individuals. The Squares tasks, a novel two-dimensional block construction task, manipulated patterns by segmentation and perceptual cohesiveness to investigate the first factor, processing preference (local or global), and by obliqueness to examine the second factor, the ability to use mental imagery. These two factors were investigated directly by the Children's Embeded Figures Test (CEFT; Witkin, Oltman, Raskin, & Karp, 1971) and a mental rotation task respectively. Results showed that individuals with WS did not differ from the TD group in their processing style. However, the ability to use mental imagery was significantly poorer in the WS group than the TD group. This suggests that weak performance on the block construction tasks in WS may relate to an inability to use mental imagery. Record Date Created: 20011003
Record 10Annotation: the cognitive neuroscience of face recognition: implications for developmental disorders. Elgar K; Campbell R University College London, UK. [email protected] Journal of child psychology and psychiatry, and allied disciplines (England) Sep 2001, 42 (6) p705-17, ISSN 0021-9630 Languages: ENGLISH Document type: Journal Article; Review; Review, Academic Record type: Completed
Face recognition is often considered to be a modular (encapsulated) function. This annotation supports the proposal that faces are special, but suggests that their identification makes use of general-purpose cortical systems that are implicated in high-level vision and also in memory and learning more generally. These systems can be considered to function within two distinct cortical streams: a medial stream (for learning and salience of faces encountered) and a lateral stream (for distributed representations of visual properties and identities of faces). Function in the lateral stream, especially, may be critically dependent on the normal development of magnocellular vision. The relevance of face recognition anomalies in three developmental syndromes (Autism, Williams syndrome, and Turner syndrome) and the two-route model sketched above is considered. (153 Refs.) Record Date Created: 20011003
Record 11Williams syndrome and related disorders. Morris C A; Mervis C B Department of Pediatrics, Division of Genetics, University of Nevada School of Medicine, Las Vegas, NV 89102, USA. [email protected] Annu Rev Genomics Hum Genet (United States) 2000, 1 p461-84, ISSN 1527-8204 Languages: ENGLISH Document type: Journal Article; Review; Review, Academic Record type: Completed
Three clinical conditions displaying phenotypic overlap have been linked to mutation or deletion of the elastin gene at 7q11.23. Supravalvar aortic stenosis, an autosomal dominant disorder characterized by elastin arteriopathy, is caused by mutation or intragenic deletions of ELN resulting in loss of function. Autosomal dominant cutis laxa, a primarily cutaneous condition, is the result of frameshift mutations at ELN that cause a dominant-negative effect on elastic fiber structure. Williams syndrome, a neurodevelopmental disorder is due to a 1.5 Mb deletion that includes ELN and at least 15 contiguous genes. The disorder is characterized by dysmorphic facies, mental retardation or learning difficulties, elastin arteriopathy, a unique cognitive profile of relative strength in auditory rote memory and language and extreme weakness in visuospatial constructive cognition, and a typical personality that includes overfriendliness, anxiety, and attention problems. The understanding of these disorders has progressed from phenotypic description to identification of causative mutations and insight into pathogenetic mechanisms for some aspects of the phenotype. (135 Refs.) Record Date Created: 20011109
Record 12Genomic organization of the genes gtf2ird1, gtf2i, and ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 williams syndrome critical region. Bayarsaihan Dashzeveg; Dunai Judit; Greally John M; Kawasaki Kazuhiko; Sumiyama Kenta; Enkhmandakh Badam; Shimizu Nobuyoshi; Ruddle Frank H Department of Molecular, Cellular and Developmental Biology, Yale University, New Haven, Connecticut, 06520, USA Genomics (United States) Jan 2002, 79 (1) p137-43, ISSN 0888-7543 Journal Code: 8800135 Languages: ENGLISH Document type: Journal Article Record type: In Process
We have recently isolated a mouse ortholog of human GTF2IRD1 that is related to GTF2I. GTF2IRD1 and GTF2I proteins are characterized by the presence of multiple helix-loop-helix domains and a leucine zipper motif. Both paralogs are closely linked and deleted hemizygously in individuals with Williams syndrome, a dominant genetic condition characterized by unique neurocognitive and behavioral features. We have isolated and analyzed the sequence of bacterial artificial chromosome clones from the syntenic mouse chromosome 5 region that contains Gtf2ird1 and Gtf2i as well as a neighboring gene, Ncf1. Gtf2ird1 is composed of 31 exons spanning >100 kb on mouse chromosome 5 and is located between Cyln2 and Gtf2i. Gtf2i is composed of 34 exons spanning about 77 kb. Ncf1, located downstream of Gtf2i, consists of 11 exons that extend over 8 kb. The gene organization of Gtf2ird1, Gtf2i, and Ncf1 is conserved in mice and humans, although the intronic regions are more compact in the mouse genome. The helix-loop-helix repeats of Gtf2ird1 and Gtf2i are encoded separately on adjacent exons and were generated by independent genomic rearrangements. These studies contribute to our knowledge of transcription factor defects and their pathogenesis in haploinsufficiency conditions. Record Date Created: 20020205
Record 13Coeliac disease in Williams syndrome. Giannotti A; Tiberio G; Castro M; Virgilii F; Colistro F; Ferretti F; Digilio M C; Gambarara M; Dallapiccola B Servizio di Genetica Medica, Ospedale Bambino Gesu, IRCCS, Piazza S Onofrio 4, 00165, Roma, Italy. [email protected] Journal of medical genetics (England) Nov 2001, 38 (11) p767-8, ISSN 1468-6244 Languages: ENGLISH Document type: Journal Article Record type: Completed
BACKGROUND: Coeliac disease (CD) has been reported in several patients affected by chromosomal disorders, including Down syndrome (DS) and Turner syndrome (TS). CD has also been found in sporadic Williams syndrome (WS) patients. In this study, CD was evaluated in a consecutive series of patients with WS, in order to estimate if the prevalence of CD in WS patients is higher than in the general population. METHODS AND RESULTS: A consecutive series of 63 Italian patients with WS was studied by analysing the dosage of antigliadin antibodies (AGA) IgA and antiendomisium antibodies (AEA). In patients with positive AGA and AEA, small bowel biopsy was performed. The prevalence of CD in our WS population was compared with that estimated in a published series of 17 201 Italian students. Seven WS patients were found to be positive for AGA IgA and AEA. Six of them underwent small bowel biopsy, which invariably disclosed villous atrophy consistent with CD. The prevalence of CD in the present series of WS patients was 9.5% (6/63), compared to 0.54% (1/184) in the Italian students (p<0.001). CONCLUSION: The present results suggest that the prevalence of CD in WS is higher than in the general population and is comparable to that reported in DS and TS. AGA and AEA screening is recommended in patients with WS. Record Date Created: 20011105
Record 14High resolution comparative genomic hybridisation in clinical cytogenetics. Kirchhoff M; Rose H; Lundsteen C Cytogenetic Laboratory, Department of Clinical Genetics, Juliane Marie Centre, University Hospital, Copenhagen, Denmark. [email protected] Journal of medical genetics (England) Nov 2001, 38 (11) p740-4, ISSN 1468-6244 Languages: ENGLISH Document type: Journal Article Record type: Completed
High resolution comparative genomic hybridisation (HR-CGH) is a diagnostic tool in our clinical cytogenetics laboratory. The present survey reports the results of 253 clinical cases in which 47 abnormalities were detected. Among 144 dysmorphic and mentally retarded subjects with a normal conventional karyotype, 15 (10%) had small deletions or duplications, of which 11 were interstitial. In addition, a case of mosaic trisomy 9 was detected. Among 25 dysmorphic and mentally retarded subjects carrying apparently balanced de novo translocations, four had deletions at translocation breakpoints and two had deletions elsewhere in the genome. Seventeen of 19 complex rearrangements were clarified by HR-CGH. A small supernumerary marker chromosome occurring with low frequency and the breakpoint of a mosaic r(18) case could not be clarified. Three of 19 other abnormalities could not be confirmed by HR-CGH. One was a Williams syndrome deletion and two were DiGeorge syndrome deletions, which were apparently below the resolution of HR-CGH. However, we were able to confirm Angelman and Prader-Willi syndrome deletions, which are about 3-5 Mb. We conclude that HR-CGH should be used for the evaluation of (1) dysmorphic and mentally retarded subjects where normal karyotyping has failed to show abnormalities, (2) dysmorphic and mentally retarded subjects carrying apparently balanced de novo translocations, (3) apparently balanced de novo translocations detected prenatally, and (4) for clarification of complex structural rearrangements. Record Date Created: 20011105
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