Daily Life Activities and functioning evaluation of patients with Williams-Beuren Syndrome

• Grant number: 08/09760-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: May 01, 2009
• End date: December 31, 2009
• Field of knowledge: Health Sciences - Physiotherapy and Occupational Therapy
• Principal Investigator: Andrea Parolin Jackowski
• Grantee: Carolina Grego Del Cole
• Host Institution: Departamento de Psiquiatria. Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

The Williams-Beuren Syndrome (WS) was described by Williams & Beuren in the 60's and is caused by a microdeletion of about 25 genes in the 7q11.23 region. Patients with WS present a very characteristic neurocognitive profile with relative preservation of the ventral stream function and deficits in function mediated by the dorsal stream. However, little is known about the relationship of the structural brain abnormalities of the dorsal stream and the daily life activities and functioning in these patients. The purpose of this study is: (1) analyze how 10 teenagers with WS execute Daily Life Activities; (2) evaluate which domains are more committed; (3)and classify the results using the International Classification of Functioning, Disabilities and Health scale (ICF). The subjects of these study are 10 teenagers (males and females) with WS, from 12-17 years-old, IQ between 49-75 (66 ± 10.6, diagnosed with WS made by fluorescence in situ hybridization (FISH) confirmation of elastin gene deletion. The scale that will be applied in this study used the Activity and Participation component of the ICF and the evaluation of the independency level in the Daily Life Activities. The scale will be applied to the parents. With this preliminary project, we aim to evaluated which domains of the daily life activities are more committed and which ones are relative preserved in subjects with WS. We hope to use these results to orient parents and health professionals to improve the quality of life of these patients.