Elena Garayzábal Heinze

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.

Autism spectrum symptoms in Smith–Magenis syndrome and Williams syndrome: comparisons and contrasts

Abstract Objectives: Genetic syndromes with distinctive cognitive and behavioural phenotypes — such as Smith–Magenis syndrome (SMS) and Williams syndrome (WS) — offer unique opportunities to explore the links between specific genes and neurodevelopmental disorders. While some studies have reported the occurrence of autistic symptoms in SMS, evidence for such symptomatology in WS is scarcer. This study is the first to compare and contrast levels of autistic symptoms in SMS and WS. Methods: Parents/caregivers of 11 individuals with SMS and 14 individuals with WS completed the Social Communication Questionnaire. Results: Results indicate that both syndromes present, albeit in distinct degrees, behavioural signs of the autistic spectrum. The SMS group scored significantly higher on both current and lifetime symptoms. The mean lifetime form score of the SMS group (particularly males) was consonant with the presence of an autism spectrum disorder. Regarding the WS group, even though the mean score was below the clinical threshold, it was still above what has been reported in typically developing samples. Conclusion: Our study contributes to a better definition of the neurobehavioural profiles of SMS and WS, as it offers comparisons and contrasts that may, in turn, prove beneficial for early diagnosis and intervention.

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.

Biomechanical Description of Phonation in Children Affected by Williams Syndrome

The voice of persons with Williams syndrome (WS) is described as hoarse with a deep and unstable fundamental frequency (f0). These observations may be justified by the deficit of elastin due to a haplo-insufficiency in the ELN gene characteristic of the syndrome. In view of the possible relationship between elastin deficit and dysphonia, a study of the dynamic function of WS phonation was conducted by means of biomechanical analysis. In order to assess the presence of dysphonic symptoms and their degree of severity, the biomechanical description of WS phonation has been evaluated in terms of dynamic mass and viscoelasticity estimates. Glottal biomechanical features such as vocal fold dynamic mass, stiffness, unbalances, and laryngeal tremor of 12 children with WS aged 3 to 8 years (five girls and seven boys) have been estimated and compared with the normative phonation of 97 children with typical development (53 girls and 44 boys). The results show that WS children show differences in f0, vocal fold mass and stiffness, phonation stability, glottal contact defects, and laryngeal tremor. The conclusions may help to make a more complete view of the connection between WS and dysphonia based on objective assessments.