Loquens, Vol 4, No 1 (2017)

What voice tells us about genetic syndromes: The case of Williams syndrome


https://doi.org/10.3989/loquens.2017.039

Irene Hidalgo de la Guía
Departamento de Lingüística, Universidad Autónoma de Madrid , Spain
orcid http://orcid.org/0000-0003-0263-6857

Elena Garayzábal Heinze
Centro de Tecnología Biomédica, Universidad Politécnica de Madrid , Spain
orcid http://orcid.org/0000-0001-7534-9141

Pedro Gómez Vilda
Centro de Tecnología Biomédica, Universidad Politécnica de Madrid , Spain
orcid http://orcid.org/0000-0003-3283-378X

Abstract


The study of the voice is a very valuable tool in the field of rare diseases. That is because the biomechanical and acoustic analysis of phonation allows to detect specific features of a particular genetic and rare syndrome. In the case of Williams syndrome (WS), it was proved that some clinical features connected to this syndrome can be observed by means of voice analysis. In order to carry out this study, 60 recordings of 12 children suffering from WS were assessed and compared to 483 normative phonations of 97 children with typical development. The methodology used to assess the voices was BioMetroPhon (Gómez et al., 2013). The results may aim to establish a narrow connection between WS phonation and its typical genotype and, in consequence, the results of this study may highlight the interdisciplinary nature of the assessment of the voice.

Keywords


Williams syndrome; elastin deficit; voice; larynx biomechanics; vocal fold cover; tremor

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