From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.

Abstract

Genetic syndromes have been studied by extensive research allowing a better definition of their clinical manifestations, natural history, and etiopathogenetic mechanisms. Nevertheless, some relevant, but still unexplored aspects of these multisystemic conditions need to be clarified. One of these aspects is the characterization of the vocal production, especially in some genetic syndromes in which the distinctive voice is the hallmark of the syndrome (e.g., Cri du chat syndrome, CdCS). The aim of this study is to provide a detailed description of phonotype of patients affected by CdCS. We prospectively recorded and analysed acoustical features of three corner vowels [a], [i], and [u] and number listing from 1 to 10 of 29 patients with molecularly confirmed CdCS (age range 4-21 years; mean 11 ± 6; median 10 years). For perceptual analysis, the GIRBAS scale was completed. The acoustical analysis was performed through BioVoice software. When stratified by age and gender, in the older men subgroup the grade, roughness, and asthenia mean values are the highest for each vowel, when compared with values of the same parameters obtained in the other subgroups. Statistical analysis highlighted 26 significant differences: 38% (10) concern the sustained phonation of /a/, 27% (7) are related to /i/ whereas 19% (5) to /u/. Ratio1, Ratio2, VSA, and FCR were also significant. Conclusion: The voice production not only conveys linguistic and paralinguistic information but also can give information regarding the speaker's biological and clinical characteristics.