Williams syndrome: Pediatric, neurologic, and cognitive development

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dc.contributor.authorCarrasco, X
dc.contributor.authorCastillo, S
dc.contributor.authorAravena, T
dc.contributor.authorRothhammer, P
dc.contributor.authorAboitiz, F
dc.date.accessioned2024-01-10T14:22:28Z
dc.date.available2024-01-10T14:22:28Z
dc.date.issued2005
dc.description.abstractThis study examines the developmental history of 32 Williams syndrome patients, positive to the fluorescence in situ hybridization (FISH) test. The information is intended to provide help for early diagnosis and appropriate stimulation of these patients. In the sample reported here, only about half of the patients referred with presumptive diagnosis were in fact (FISH), indicating that facial dysmorphism may not be the most reliable sign for diagnosis. Initial pediatric signs are developmental delay and nocturnal irritability. In consultation, facial dysmorphies and heart murmur are detected. There is also low birth weight, failure to thrive, unsuccessful breastfeeding, and gastroesophageal reflux. All these symptoms are strongly suggestive of Williams syndrome. Subsequent steps consist of cardiologic studies. Our results indicate that the triad of symptoms consisting of infantile hypercalcemia, dysmorphic facies, and supravalvular aortic stenosis, which until recently was considered fundamental for Williams syndrome diagnosis, is not usually present and does not lead to an early diagnosis. Cognitively, these children are characterized by hypersociability, hyperacusia, deficient visuoconstructive abilities, attentional deficit and hyperactivity, and in some cases, spontaneous musical interests. There are no special verbal skills. The results of this study indicate that the concept of Williams syndrome patients as language-and musically-gifted is not fully accurate. (c) 2005 by Elsevier Inc. All rights reserved.
dc.fechaingreso.objetodigital03-04-2024
dc.format.extent7 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1016/j.pediatrneurol.2004.09.013
dc.identifier.eissn1873-5150
dc.identifier.issn0887-8994
dc.identifier.pubmedidMEDLINE:15730896
dc.identifier.urihttps://doi.org/10.1016/j.pediatrneurol.2004.09.013
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79940
dc.identifier.wosidWOS:000228198600004
dc.information.autorucMedicina;Aboitiz F;S/I;100165
dc.issue.numero3
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final172
dc.pagina.inicio166
dc.publisherELSEVIER SCIENCE INC
dc.revistaPEDIATRIC NEUROLOGY
dc.rightsacceso restringido
dc.subjectCRITICAL REGION
dc.subjectBEUREN-SYNDROME
dc.subjectDOWNS-SYNDROME
dc.subjectBRAIN
dc.subjectDIAGNOSIS
dc.subject7Q11.23
dc.subjectUPDATE
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleWilliams syndrome: Pediatric, neurologic, and cognitive development
dc.typeartículo
dc.volumen32
sipa.codpersvinculados100165
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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