1/5. cleft palate in a patient with Williams' syndrome.cleft lip or palate has not been reported in the medical literature as a part of Williams' syndrome. We present a patient who had cleft palate among other congenital manifestations. This patient's immediate postnatal period clinically seemed to have a Pierre Robin sequence. With the development of the craniofacial complex, microgenia and micrognathia with glossoptosis gradually became apparent. On further assessment, the patient showed other clinical findings that suggested a syndromic association. This required a complete evaluation to discard other conditions that present with low psychomotor development and distinctive facies, such as Kabuki syndrome or fetal alcohol syndrome. The diagnosis for Williams' syndrome was established based on the clinical features and supported by the fluorescent in situ hybridization test. Williams' syndrome has been described as a rare, congenital disorder characterized by physical and developmental problems. Common features include characteristic "elfin-like" facies, supravalvular aortic stenosis, hypercalcemia, low birth weight, slow weight gain, feeding problems, impulsive and outgoing personality, limited spatial skills and motor control, and intellectual disability. Although individuals with Williams' syndrome may show competence in areas such as language, music, and interpersonal relations, their IQs are usually low and they are considered moderately to mildly retarded.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/5. Visual information process in williams syndrome: intact motion detection accompanied by typical visuospatial dysfunctions.It has been suggested that visuospatial cognitive disabilities seen in children with williams syndrome (WMS) are related to a dysfunction of the dorsal stream in the visual information analysis system. We investigated whether visual motion detection is also impaired in WMS because it is one of the main functions of the dorsal stream. Using various psychophysical examinations and magnetoencephalography, we studied a child with WMS who had the typical features of the syndrome. We found profound impairments in the visuospatial cognitions, as previously reported in WMS. In contrast, he had normal ability for the direction discrimination of coherent motion on a background of randomly moving dots, and he perceived apparent motion as do normal children. Furthermore, the latencies of both responses to the coherent and incoherent motions as measured by magnetoencephalography were within the mean /- 2 SD among normal adults and the estimated origins were near the human homologue of V5/MT (visual area 5/middle temporal area). The results indicate that the visuospatial cognitive deficits in WMS can occur without impairment of the visual motion detection. We consider that the deficits are caused by a restricted dysfunction of the neural groups for position and three-dimensional form perceptions in the dorsal stream of the visual system, though other possibilities are not excluded.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/5. The impact of developmental visuospatial learning difficulties on British sign language.There has been substantial research interest in recent years in the relationship between the development of language and cognition, especially where dissociations can be seen between them. williams syndrome, a rare congenital disorder characterized by a fractionation of higher cortical functions, with relatively preserved language but marked difficulties with visuospatial constructive cognition, has been extensively studied. The case of Heather, who is remarkably similar to the characteristic phenotype of williams syndrome in physical appearance and cognitive abilities, but who is also congenitally deaf and a user of British sign language, provides the first opportunity to explore the consequences of specific visuospatial learning difficulties on the linguistic system when the language used is visuospatial. Heather shows a pattern of impaired drawing ability and visual form discrimination, but preserved ability to discriminate faces. She has a large vocabulary in British sign language, and overall presents a picture of relative competence in British sign language grammar. However, she shows specific deficits in those areas of British sign language which directly rely on spatial representations for linguistic purposes. A number of theories as to the nature of her impairments and those found in williams syndrome are discussed, using models of the relationship between language and visuospatial cognition based on data from this unique case.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/5. Medical considerations in dental treatment of children with williams syndrome.williams syndrome is a rare disorder that was first described in 1961. It is thought to be caused by a microdeletion in the long arm of chromosome 7 at 7q11.23 and is a multisystem, congenital, and panethnic disorder characterized by a number of developmental and physical abnormalities, including congenital cardiovascular abnormalities, mental retardation and neurological features, growth deficiency, genitourinary manifestation, gastrointestinal and musculoskeletal problems, behavioral characteristics, craniofacial features, ophthalmologic features, and dental problems. We describe cases of children with williams syndrome treated in the department of pediatric dentistry of the Hadassah School of Dental medicine, Jerusalem, israel. The different treatments rendered to these children are discussed followed by general remarks drawn from those treatments and from a literature review. We conclude that sedation can be helpful in the younger age group to reduce anxiety and uncooperative behavior during minimal dental treatments. Treatment under general anesthesia seems more appropriate for older children and adolescents. Special attention should be given to initial evaluation of these patients, especially because with age aortic stenosis tends to intensify, which together with the progressive renal impairment can escalate blood pressure elevation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/5. williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.In williams syndrome (WS), a deletion of approximately 1.5 Mb on one copy of chromosome 7 causes specific physical, cognitive, and behavioral abnormalities. Molecular dissection of the phenotype may be a route to identification of genes important in human cognition and behavior. Among the genes known to be deleted in WS are ELN (which encodes elastin), LIMK1 (which encodes a protein tyrosine kinase expressed in the developing brain), STX1A (which encodes a component of the synaptic apparatus), and FZD3. Study of patients with deletions or mutations confined to ELN showed that hemizygosity for elastin is responsible for the cardiological features of WS. LIMK1 and STX1A are good candidates for cognitive or behavioral aspects of WS. Here we describe genetic and psychometric testing of patients who have small deletions within the WS critical region. Our results suggest that neither LIMK1 hemizygosity (contrary to a previous report) nor STX1A hemizygosity is likely to contribute to any part of the WS phenotype, and they emphasize the importance of such patients for dissecting subtle but highly penetrant phenotypes.- - - - - - - - - - ranking = 5keywords = physical (Clic here for more details about this article) |