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

This research work introduces a novel, nonintrusive method for the automatic identification of Smith-Magenis syndrome, traditionally studied through genetic markers. The method utilizes cepstral peak prominence and various machine learning techniques, relying on a single metric computed by the research group. The performance of these techniques is evaluated across two case studies, each employing a unique data preprocessing approach. A proprietary data "windowing" technique is also developed to derive a more representative dataset. To address class imbalance in the dataset, the synthetic minority oversampling technique (SMOTE) is applied for data augmentation. The application of these preprocessing techniques has yielded promising results from a limited initial dataset. The study concludes that the k-nearest neighbors and linear discriminant analysis perform best, and that cepstral peak prominence is a promising measure for identifying Smith-Magenis syndrome.

Speech and language characteristics in Smith–Magenis syndrome: Case report / Características del habla y del lenguaje en el síndrome de Smith-Magenis: caso clínico

Smith–Magenis syndrome (SMS) is a rare neurodevelopmental disorder with mild-to-moderate intellectual disability. Speech and language impairments have not been well described as part of the SMS phenotype. This study reports the speech and language characteristics presented by a classical SMS case, a 20-year-old woman with positive deletion in the region 17p11.2. The case presented a borderline IQ on verbal and performance Wechsler scales. Language standardized tests (i.e., Peabody, Token test, CEG test and Boehm test) and naturalistic language sample (i.e. conversation and story generation) were used to assess speech and language performance. Speech characteristics included imprecise speech, with a high speech rate, hoarse voice, hypernasality and intelligibility deficits. The performance in all standardized tests was poor. Socio-communicative deficits included repetitive and persistent verbal behavior, difficulties in the use of linguistic strategies to repair communication breakdowns, limited vocabulary production and short overall length utterances with reduced grammatical components. The results contribute to expanding knowledge about the SMS phenotype, also to highlight the need to include speech and language evaluation as part of the clinical assessment of SMS and, at the same time, to draw attention to the need to include early communications skills in language intervention programs.(AU)

El síndrome de Smith-Magenis (SMS) es un trastorno neuroevolutivo frecuente, que se caracteriza por la discapacidad intelectual de leve a moderada. Los trastornos del habla y del lenguaje no han sido bien descritos como parte del fenotipo del SMS. Este estudio reporta las características del habla y del lenguaje presentadas por un caso clásico de SMS, una mujer de 20 años de edad con deleción positiva en la región 17p11.2. El caso presentó un CI límite en las escalas verbales y de desempeño de Wechsler. Se utilizaron pruebas estandarizadas del lenguaje (pruebas de Peabody, Token, CEG y Boehm) y una muestra de lenguaje naturalista (es decir, conversación y generación de historias) para evaluar el desempeño del habla y del lenguaje. Las características del habla incluyeron imprecisiones, con una alta tasa de habla, voz ronca, hipernasalidad y déficits de inteligibilidad. Su desempeño fue malo en todas las pruebas estandarizadas. Los déficits socio-comunicativos incluyeron comportamiento verbal repetitivo y persistente, dificultades en el uso de estrategias lingüísticas para reparar los fallos de comunicación, producción de vocabulario limitado y longitudes de expresión cortas en general, con reducción de los componentes gramaticales. Los resultados ayudan a expandir el conocimiento sobre el fenotipo SMS, y también subrayan la necesidad de incluir la evaluación del habla y del lenguaje como parte de la evaluación clínica del SMS, y al mismo tiempo, atraer la atención sobre la necesidad de incluir competencias de comunicación temprana en los programas de intervención del lenguaje.(AU)

Acoustic Analysis of Phonation in Children With Smith-Magenis Syndrome.

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.

Analysis of Spanish consonant recognition in 8-talker babble.

This paper presents the results of a closed-set recognition task for 80 Spanish consonant-vowel sounds (16 C × 5 V, spoken by 2 talkers) in 8-talker babble (-6, -2, +2 dB). A ranking of resistance to noise was obtained using the signal detection d' measure, and confusion patterns were analyzed using a graphical method (confusion graphs). The resulting ranking indicated the existence of three resistance groups: (1) high resistance: /ʧ, s, ʝ/; (2) mid resistance: /r, l, m, n/; and (3) low resistance: /t, θ, x, É¡, b, d, k, f, p/. Confusions involved mostly place of articulation and voicing errors, and occurred especially among consonants in the same resistance group. Three perceptual confusion groups were identified: the three low-energy fricatives (i.e., /f, θ, x/), the six stops (i.e., /p, t, k, b, d, É¡/), and three consonants with clear formant structure (i.e., /m, n, l/). The factors underlying consonant resistance and confusion patterns are discussed. The results are compared with data from other languages.

Perfil de desarrollo morfosintáctico del español de Colombia: S-LARSP / Profile aboudet morphosyntactic development of Colombian Spanish: S-LARSP

En el presente estudio se propuso diseñar un perfil de desarrollo morfosintáctico del español siguiendo la metodología del The Language Assessment, Remediation, and Screening Procedure(LARSP). El estudio contó con 105 participantes: 54 niñas y 51 niños colombianos monolingües del español, con edades entre los 10 meses y los 6 años y 7 meses. Todos los sujetos fueron audio y videograbados durante las diferentes sesiones de recogida de datos. Todas las grabaciones se transcribieron ortográficamente y los análisis gramaticales se codificaron siguiendo las convenciones del softwareSystematic Analysis of Language Transcripts (SALT) versión 2012. En total se analizaron 11.212 enunciados, con los que se construyó el perfil denominado S-LARSP. Los resultados se compilaron en un solo cuadro, que muestra 7 etapas de desarrollo morfosintáctico a través de 3 categorías: morfema, sintagma y oración. Este estudio, además de presentar el perfil, muestra datos importantes del desarrollo gramatical del español, en especial en el segundo y quinto año de vida (AU)

This study aims to design a morphosyntactic profile of Spanish language development, following the methodology of The Language Assessment, Remediation, and Screening Procedure (LARSP). The study involved 105 participants, 54 girls and 51 Colombian Spanish monolinguals, ages ranged from 10 months to 6 years and 7 months old. All individuals were audio and videotaped during different sessions. All recordings were transcribed orthographically, and grammatical analysis were coded using the conventions of the Systematic Analysis Software SALT 2012 —Systematic Analysis of Language Transcripts. A total of 11,212 utterances were analyzed using to profile the S-LARSP. The results were compiled into a single frame, showing seven stages of morphosyntactic development considering three functional categories: word, phrase and clause. This study, in addition to presenting the profile, shows important data regarding Spanish grammatical development, especially in the second and fifth year of life (AU)

Concrete and relational vocabulary: comparison between Williams and Smith-Magenis syndromes.

We compared the performance of two clinical groups, Williams syndrome (WS) and Smith-Magenis syndrome (SMS), in terms of concrete and relational vocabulary. We analyzed (a) whether the WS group had an advantage in concrete vocabulary when compared to the SMS group, as good concrete vocabulary knowledge is considered a hallmark of WS; (b) if spatial processing difficulties in WS would be reflected specifically in their knowledge of relational spatial vocabulary; (c) if a specific vocabulary profile could be outlined for SMS. Our results show similar performances on receptive concrete and relational vocabulary in both groups. However, and as anticipated, performance on relational space concepts was significantly lower in the WS group.

Psycholinguistic abilities of children with Williams syndrome.

The objective of this study was to investigate the psycholinguistic abilities of children with Williams syndrome (WS) and typically developing children using the Illinois Test of Psycholinguistic Abilities (ITPA). Performance on the ITPA was analysed in a group with WS (N=20, mean age=8.5 years, SD=1.62) and two typically developing groups, matched in mental (MA, N=20, mean age=4.92 years, SD=1.14) and chronological age (CA, N=19, mean age=8.35 years, SD=3.07). Overall, within-group analyses showed that individuals with WS displayed higher scalar scores on the visual reception and visual association subtests. When groups were compared, we observed inferior performance of the WS group on all ITPA subtests when compared with typically developing groups. Moreover, an interaction between reception and group was found, only the WS group demonstrated superior performance on the visual reception subtest when compared to the auditory reception subtest. Evidence from this study offers relevant contributions to the development of educational intervention programs for children with WS.

Funcionamiento cognitivo general y habilidades psicolingüísticas en niños con síndrome de Smith-Magenis / General cognitive functioning and psycholinguistic abilities in children with Smith-Magenis Syndrome

Presentamos un estudio psicolingüístico de una afección genética rara por microdelección que cursa con discapacidad intelectual y una relativamente buena preservación de las habilidades lingüísticas, el síndrome de Smith-Magenis (SSM) del que no existe ninguna descripción del perfil cognitivo y psicolingüístico con población española. Se ha caracterizado el perfil cognitivo y psicolingüístico del SSM a partir de una muestra de 9 pacientes niños españoles con edades comprendidas entre 7 y 11 años. El perfil cognitivo y psicolingüístico se evaluó con las pruebas estandarizadas Escala de Inteligencia de Wechsler para niños-IV, Test Illinois de Aptitudes Psicolingüísticas y el Test de Vocabulario en Imágenes Peabody. Los resultados sugieren un perfil específi co caracterizado por un C.I. bajo y relativamente buenas habilidades para integrar información proveniente de diferentes canales; las difi cultades observadas se centran en problemas de atención y comportamiento hiperactivo que se han puesto de manifiesto en la interacción durante la evaluación. Este estudio es la primera evidencia existente acerca de la descripción del perfil cognitivo y psicolingüístico en pacientes con SSM en España y ayudará a establecer pautas de intervención diferencial educativas y psicoterapéuticas respecto de otras enfermedades genéticas con baja incidencia con perfi les similares a los estudiados (AU)

This study is a neuropsycholinguistic research of a rare genetic syndrome with microdeletion that co-occurs with intellectual disabilities and relatively good language abilities, the Smith-Magenis Syndrome (SMS). Nevertheless, there are no cognitive and psycholinguistic profile analyses performed with Spanish population. In this sense, we characterized the cognitive and psycholinguistic profile of a sample with 9 participants with SMS (7 to 11 years of age). The cognitive and psychological profile was assessed with diverse standardized tests: Wechsler Intelligence Scale for Children - IV version, Illinois Test of Psycholinguistic Abilities and Peabody Picture Vocabulary Test. Results suggest a specific cognitive and psychological profile characterized by a low IQ and relative good abilities in integrating information, whereas attention problems and hyperactive behaviors were displayed when interacting with the child during the assessment. This work is the first evidence of the cognitive and psycholinguistic profile characterization in patients with SMS in Spain, and will help to guide a more accurate diagnosis and differential intervention in rare genetic diseases with similar cognitive and psycholinguistic profiles (AU)

[General cognitive functioning and psycholinguistic abilities in children with Smith-Magenis Syndrome]. / Funcionamiento cognitivo general y habilidades psicolingüísticas en niños con síndrome de Smith-Magenis.

This study is a neuropsycholinguistic research of a rare genetic syndrome with microdeletion that co-occurs with intellectual disabilities and relatively good language abilities, the Smith-Magenis Syndrome (SMS). Nevertheless, there are no cognitive and psycholinguistic profile analyses performed with Spanish population. In this sense, we characterized the cognitive and psycholinguistic profile of a sample with 9 participants with SMS (7 to 11 years of age). The cognitive and psychological profile was assessed with diverse standardized tests: Wechsler Intelligence Scale for Children - IV version, Illinois Test of Psycholinguistic Abilities and Peabody Picture Vocabulary Test. Results suggest a specific cognitive and psychological profile characterized by a low IQ and relative good abilities in integrating information, whereas attention problems and hyperactive behaviors were displayed when interacting with the child during the assessment. This work is the first evidence of the cognitive and psycholinguistic profile characterization in patients with SMS in Spain, and will help to guide a more accurate diagnosis and differential intervention in rare genetic diseases with similar cognitive and psycholinguistic profiles.

[Lexico-semantic processing in Williams syndrome]. / Procesamiento léxico-semántico en el síndrome de Williams.

People with Williams syndrome, a neurodevelopmental genetic syndrome, typically have good language skills as compared to other cognitive abilities, as far as intellectual disability is concerned. They have a large vocabulary and they frequently use uncommon or rarely-used words. This has led some authors to consider that they have a peculiar semantic system, different from that of people with typical development. In this study, we tested this hypothesis by comparing the performance of a group of young adults with Williams syndrome to a control group using various lexico-semantic tasks, including semantic and phonological fluency. The results indicate that the semantic system of people with Williams syndrome does not seem to differ much from those in the control group because the words they produced were similar to those of the control group with regard to word frequency, length or the typicality of the responses within the categories.

Procesamiento léxico-semántico en el síndrome de Williams / Lexico-semantic processing in Williams syndrome

Las personas con síndrome de Williams, un trastorno genético del neurodesarrollo, se caracterizan por buenas habilidades lingüísticas en comparación con otras habilidades cognitivas, enmarcadas en un cuadro de discapacidad intelectual. Poseen un buen vocabulario y utilizan con frecuencia palabras raras o de escaso uso. Eso ha llevado a algunos autores a considerar que estas personas poseen un sistema léxico-semántico peculiar y diferente del de las personas con desarrollo típico. En este estudio se pone a prueba esta hipótesis comparando la ejecución de un grupo de jóvenes con SW con otro grupo control en varias tareas léxico-semánticas, entre ellas las de fluidez semántica y fonológica. Los resultados muestran que el sistema léxico-semántico de las personas con SW no parece ser diferente al de los controles, pues los ejemplares que producen son similares a los de los sujetos control, tanto en lo que se refi ere a la frecuencia de las palabras, como a su longitud o a la tipicidad de los ejemplares de las categorías (AU)

People with Williams syndrome, a neurodevelopmental genetic syndrome, typically have good language skills as compared to other cognitive abilities, as far as intellectual disability is concerned. They have a large vocabulary and they frequently use uncommon or rarely-used words. This has led some authors to consider that they have a peculiar semantic system, different from that of people with typical development. In this study, we tested this hypothesis by comparing the performance of a group of young adults with Williams syndrome to a control group using various lexico-semantic tasks, including semantic and phonological fluency. The results indicate that the semantic system of people with Williams syndrome does not seem to differ much from those in the control group because the words they produced were similar to those of the control group with regard to word frequency, length or the typicality of the responses within the categories (AU)

[Learning to read in children with Williams syndrome]. / Aprendizaje de la lectura en los niños con síndrome de Williams.

People with Williams syndrome are characterized by linguistic abilities that are higher than their level of intelligence. There is controversy concerning their reading level because there are few studies. The aim of this work was to test reading abilities in a group of school-age children with Williams syndrome. Their performance was contrasted with a control group of the same mental age. Three kinds of tasks were used: word and pseudoword reading, phonological awareness, and naming speed. Results show that the Williams syndrome children performed similarly to control children in reading accuracy but were slower in reading words and pseudowords. They were also slower in the naming speed tasks. These results suggest that Williams syndrome children do not have difficulties in developing grapheme-phoneme decoding but do present some difficulties in developing lexical reading.

Aprendizaje de la lectura en los niños con síndrome de Williams / Learning to read in children with Williams Syndrome

Las personas con síndrome de Williams se caracterizan por tener capacidades lingüísticas superiores a lo que corresponderían por su inteligencia. Respecto al nivel de lectura existe controversia dada la escasez de estudios. El objetivo de este trabajo era comprobar las capacidades de lectura de un grupo de niños con SW en edad escolar, y para ello se contrastó su ejecución con un grupo control de la misma edad mental. Tres tipos de tareas fueron utilizadas: lectura de palabras y pseudopalabras, tareas metafonológicas y de denominación rápida. Los resultados muestran que el grupo con SW tiene una ejecución similar al grupo control en la precisión lectora de pseudopalabras, aunque son más lentos en la lectura tanto de palabras como de pseudopalabras. También son más lentos en las tareas de denominación rápida. Estos resultados sugieren que los SW no tienen dificultades para desarrollar los mecanismos de conversión grafema-fonema, pero muestran ciertas dificultades en el desarrollo de la lectura léxica

People with Williams syndrome are characterized by linguistic abilities that are higher than their level of intelligence. There is controversy concerning their reading level because there are few studies. The aim of this work was to test reading abilities in a group of school-age children with Williams syndrome. Their performance was contrasted with a control group of the same mental age. Three kinds of tasks were used: word and pseudoword reading, phonological awareness, and naming speed. Results show that the Williams syndrome children performed similarly to control children in reading accuracy but were slower in reading words and pseudowords. They were also slower in the naming speed tasks. These results suggest that Williams syndrome children do not have difficulties in developing grapheme-phoneme decoding but do present some difficulties in developing lexical reading

[Cross-linguistic assessment of verbal production from a narrative task in Williams Syndrome]. / Valoración interlingüística de la producción verbal a partir de una tarea narrativa en el síndrome de Williams.

Williams Syndrome (WS) is a disorder caused by a delection in chromosome 7, with a cognitive profile characterised by mild to moderate mental deficiency and difficulties in visual-spatial processing, which contrasts with a relative preservation of linguistic functions and narrative production. In this study, verbal performance was analysed in two groups of participants (N = 3), Portuguese and Spanish, genetically diagnosed with WS. Scores were low in Verbal IQ, as in Performance IQ. Narrative performance showed low coherence with respect to structure, process, and content. WS verbal performance was affected and there was no difference between both groups. We could not find any dissociation between cognitive functioning and linguistic production.

Valoración interlingüística de la producción verbal a partir de una tarea narrativa en el síndrome de Williams / Cross-linguistic assessment of verbal production from a narrative task in Williams Syndrome

El síndrome de Williams es un trastorno causado por una delección en el cromosoma 7, con un perfil cognitivo caracterizado por un retraso mental, dificultad grave en tareas visoespaciales, que contrasta con un desarrollo relativo de la capacidad lingüística y producción narrativa. En este estudio se analizó la ejecución verbal narrativa de dos grupos de sujetos (N= 3) de habla portuguesa y española diagnosticados genéticamente con el SW. Los resultados muestran baja ejecución tanto en el CI verbal como en el CI manipulativo. La tarea narrativa muestra que los sujetos con SW son poco coherentes en términos de su estructura, proceso y contenido. La ejecución verbal se encuentra alterada y no existen diferencias entre ambos grupos evaluados. Los datos nos indican la inexistencia de una disociación entre el funcionamiento cognitivo y la producción lingüística

Williams Syndrome (WS) is a disorder caused by a delection in chromosome 7, with a cognitive profile characterised by mild to moderate mental deficiency and difficulties in visual-spatial processing, which contrasts with a relative preservation of linguistic functions and narrative production. In this study, verbal performance was analysed in two groups of participants (N = 3), Portuguese and Spanish, genetically diagnosed with WS. Scores were low in Verbal IQ, as in Performance IQ. Narrative performance showed low coherence with respect to structure, process, and content. WS verbal performance was affected and there was no difference between both groups. We could not find any dissociation between cognitive functioning and linguistic production