Los trastornos del neurodesarrollo presentes en alteraciones como el síndrome de Down, el síndrome de Williams y el síndrome de Smith Magenis subyacen en las características cognitivas, conductuales y lingüísticas de quienes los padecen. Pese a tratarse de tres alteraciones genéticas que cursan con discapacidad intelectual y que comparten aspectos de su fenotipo, las investigaciones demuestran que cada síndrome presenta diferentes perfiles lingüísticos. En lo que respecta a las habilidades fonético-fonológicas de estos tres síndromes, se han identificado peculiaridades que podrían indicar relativa especificidad de ciertos patrones fonológicos para cada síndrome. La caracterización detallada de estos perfiles fónicos supone un avance en el proceso de evaluación del habla de estas alteraciones y una mejoría en la efectividad de la terapia logopédica gracias al diseño de herramientas específicas para cada alteración. Por ello se ha evaluado el habla de tres grupos de niños, adolescentes y adultos con síndrome de Down (SD), síndrome de Williams (SW) y síndrome de Smith Magenis (SSM). El primero está formado por 13 casos, el segundo grupo con SW está formado por 15 casos y el tercero, por 21 participantes con SSM. La exploración del habla se ha realizado desde el nivel productivo en tareas de denominación, repetición y habla espontánea. Los resultados suponen hallazgos significativos que permiten ahondar en los mecanismos fonológicos más activos en cada una de estas tres poblaciones. Esto evidencia la necesaria descripción exhaustiva de los perfiles lingüísticos específicos para cada alteración del neurodesarrollo.

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.

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Smith–Magenis syndrome (SMS) is a rare genetic disease characterized by intellectual disability, serious behavior disorders, neurodevelopment delay, and speech and language disorders. An acoustic and biomechanical analysis of the voice of SMS young adults was carried out due to (a) the close relationship between the laryngeal biomechanics and the clinical and emotional state of a person; (b) the fact that no research on the voice in this syndrome has been conducted previously. The vocal timbre of most people diagnosed with SMS does not seem to be according to the complexion of diagnosed individuals, nor to their gender and age, so it could be interesting to attend the analysis of phonation of people with a rare genetic syndrome such as SMS. We used BioMetPhon, a specific piece of software to analyze the glottal source and biomechanics of vocals folds. Nineteen features related to dysphonia, physiology, and biomechanics of the vocal folds were considered. The adult phonation of 9 individuals with SMS was analyzed and compared to 100 normative male and female adult voices. Results showed that the phonation of the SMS group significantly deviates from the adult normophonic profile in more than one of the 19 features examined, such as stiffness of the thyroarytenoid muscle and dynamic mass of the vocal fold cover, among others.

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