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.

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.

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.

[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.

[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.

[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.