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.

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.

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, ɡ, b, d, k, f, p/.

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.

Can individuals with Down syndrome improve their grammar?

Morphosyntax constitutes one of the most complex areas of language. It takes into account the structure of the word and that of the sentence, and its development allows one to establish adequately agreements both within the nominal phrase and in the rest of the sentence. Morphosyntax is particularly impaired in individuals with Down syndrome.

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.

[General cognitive functioning and psycholinguistic abilities in children with Smith-Magenis Syndrome].

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).

[Lexico-semantic processing in Williams syndrome].

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.

[Learning to read in children with Williams syndrome].

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.

[Cross-linguistic assessment of verbal production from a narrative task in Williams Syndrome].

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.