Quantitative acoustical analysis of genetic syndromes in the number listing task

Objective: For several disorders and diseases, quantitative acoustical analysis represents a non-invasive approach for assessing voice pathologies. Recently, methods were proposed to characterize the speech phenotype of some genetic syndromes, but the analysis was often limited to sustained vowels. Thus, more evidence is needed to confirm the usefulness of acoustical analysis in such cases. In this work, we evaluated if the acoustical analysis of a number listing task (numbers in ascending order from 1 to 10) may add helpful information for characterizing the speech phenotype related to the Italian language for three genetic syndromes: Down, Noonan, and Smith-Magenis.Methods: For each syndrome, 24 subjects were analysed, along with 15 control subjects. Several acoustical features and entropy indexes were estimated using the BioVoice software and MATLAB routines. Differences between pathological and control cases and possible inter-syndromes differences were evaluated.Results: Statistical results suggest that overall differences might exist between controls and subjects with genetic syndromes. Moreover, entropy indexes gave significant results also when the acoustical features did not detect differences. Conclusion: Preliminary results confirmed the usefulness of both acoustical analysis and entropy techniques for the analyzed syndromes: for some syndromes, a specific speech phenotype exists that might support the clinician, highlighting the syndrome's characteristics not yet exploited.Significance: An innovative approach is proposed to characterize the speech phenotype of some genetic syn-dromes based on both quantitative acoustical analysis and entropy measures of a speech task. The proposed non-invasive approach might be helpful for diagnosis, long-term monitoring, and follow-up of such syndromes.

Automated summary

This study evaluated the usefulness of acoustical analysis in characterizing the speech phenotype of three genetic syndromes: Down, Noonan, and Smith-Magenis. The results showed that acoustical features and entropy indexes could effectively differentiate between pathological and control cases, and also provide important information regarding inter-syndromes differences. The findings confirmed the effectiveness of acoustical analysis and entropy techniques in evaluating the speech phenotype of genetic syndromes.