Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Fagundes Silva LA Author

Fagundes@gmail.com

Subjects of specialization
Genetics

Affiliation
Department of Physical Therapy, Audiology and Speech-Language Pathology, and Occupational Therapy, Faculdade de Medicina, Universidade de Sao Paulo S

Biography

Mr. Fagundes Silva LA, belongs to the department of Physical Therapy, interest in the field of  Williams syndrome; Hearing loss; Audiology; Genetics, from Universidade de Sao Paulo (School of Medicine of the University of São Paulo; FMUSP), São Paulo, SP, Brazil

Publications

Review Article Subscription

Hearing in Williams Syndrome: From Input to Processing

Author(s):

Fagundes Silva LA, Kim CA and Matas CG

Williams Syndrome (WS) is a rare genetic disease recurrent from a microdeletion of 1.5 ~ 1.8 Mb on the long arm of the chromosome 7q11.23, involving approximately 26 to 28 genes. Although these individuals present a number of physical malformations and varying cognitive deficits, an intriguing aspect of this syndrome is high auditory sensitivity and musical appreciation, which can occur concurrently with hearing loss. Several studies in the literature have used auditory tests in order to characterize the audiological profile of these patients and, thus, to seek indications that allow us to better understand how the auditory information processing in this syndrome occurs. Thus, the present study aimed to assess and describe the main characteristics of the auditory phenotype in individual... view more»

DOI: 10.4172/2327-5790.1000174

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