Acoustic Analysis of Phonation in Children With Smith–Magenis Syndrome

Abstract

Complex simultaneous neuropsychophysiological mechanisms are responsible for the processing of the information to be transmitted and for the neuromotor planning of the articulatory organs involved in speech. The nature of this set of mechanisms is closely linked to the clinical state of the subject. Thus, for example, in populations with neurodevelopmental deficits, these underlying neuropsychophysiological procedures are deficient and determine their phonation. Most of these cases with neurodevelopmental deficits are due to a genetic abnormality, as is the case in the population with Smith–Magenis syndrome (SMS). SMS is associated with neurodevelopmental deficits, intellectual disability, and a cohort of characteristic phenotypic features, including voice quality, which does not seem to be in line with the gender, age, and complexion of the diagnosed subject. The phonatory profile and speech features in this syndrome are dysphonia, high f0, excess vocal muscle stiffness, fluency alterations, numerous syllabic simplifications, phoneme omissions, and unintelligibility of speech. This exploratory study investigates whether the neuromotor deficits in children with SMS adversely affect phonation as compared to typically developing children without neuromotor deficits, which has not been previously determined. The authors compare the phonatory performance of a group of children with SMS (N = 12) with a healthy control group of children (N = 12) matched in age, gender, and grouped into two age ranges. The first group ranges from 5 to 7 years old, and the second group goes from 8 to 12 years old. Group differences were determined for two forms of acoustic analysis performed on repeated recordings of the sustained vowel /a/ F1 and F2 extraction and cepstral peak prominence (CPP). It is expected that the results will enlighten the question of the underlying neuromotor aspects of phonation in SMS population. These findings could provide evidence of the susceptibility of phonation of speech to neuromotor disturbances, regardless of their origin.

Identification of Smith–Magenis syndrome cases through an experimental evaluation of machine learning methods

“…In this work, we propose the development of ML models that allow for the identification of SMS versus normotypic individuals. One clinical feature of the SMS pathology is voice hoarseness (Elsea and Girirajan, 2008), as described in previous studies (Hidalgo-De la Guía et al, 2021b), it has been demonstrated that by utilizing the CPP values of SMS and normotypic individuals, it is possible to create divisions into highly differentiated subgroups. This differentiation is primarily due to the hoarseness present in individuals with this genetic pathology.…”

“…These types of studies are necessary to improve early disease detection. Currently, the average SMS diagnosis age is approximately seven years (Hidalgo-De la Guía et al, 2021b), leading to problems for these patients. Problem arises because SMS requires specific therapies that, when implemented late, cause different kinds of delays.…”

“…The CPP is an acoustic parameter that allows determining the degree of periodicity of a voice, showing the prominence of a cepstral peak that varies according to the periodicity of phonation. The more pronounced the peak is, the more harmonic a voice (Hidalgo-De la Guía et al, 2021b).…”

“…Currently, the CPP is considered one of the best acoustic parameters for estimating the degree of vocal pathology. In addition, it has been found that the CPP in SMS individuals is low, which could be related to a possible relationship between the syndrome and laryngeal biomechanics (Hidalgo-De la Guía et al, 2021b).…”

“…The determined laryngeal biomechanics, elastin deficiency in Williams syndrome (WS) or excess laryngeal tension in the case of Smith-Magenis syndrome (SMS) (Watts et al, 2008;Moore and Thibeault, 2012;Hidalgo-De la Guía et al, 2021b) discriminate these syndromes from others caused by neurological pathologies based on genetics (Antonell et al, 2006;Albertini et al, 2010;Hidalgo et al, 2018;Jeffery et al, 2018;Hidalgo-De la Guía et al, 2021a). Specifically, the voice profile of an SMS patient is determined by excess laryngeal and acute tension f0.…”