Psycholinguistic abilities of children with Williams syndrome

Rossi, Natalia Freitas; Heinze, Elena Garayzábal; Giacheti, Célia Maria; Gonçalves, Óscar F.; Sampaio, Adriana

doi:10.1016/j.ridd.2011.12.013

Research in Developmental Disabilities

2012

DOI: 10.1016/j.ridd.2011.12.013

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Psycholinguistic abilities of children with Williams syndrome

Natalia Freitas Rossi

Elena Garayzábal Heinze

Célia Maria Giacheti

et al.

Abstract: 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 indivi… Show more

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Cited by 3 publications

References 35 publications

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Genetic insights into the functional elements of language

Szalontai

Csiszár

2013

Hum Genet

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Language disorders cover a wide range of conditions with heterologous and overlapping phenotypes and complex etiologies harboring both genetic and environmental influences. Genetic approaches including the identification of genes linked to speech and language phenotypes and the characterization of normal and aberrant functions of these genes have, in recent years, unraveled complex details of molecular and cognitive mechanisms and provided valuable insight into the biological foundations of language. Consistent with this approach, we have reviewed the functional aspects of allelic variants of genes which are currently known to be either causally associated with disorders of speech and language or impact upon the spectrum of normal language ability. We have also reviewed candidate genes associated with heritable speech and language disorders. In addition, we have evaluated language phenotypes and associated genetic components in developmental syndromes that, together with a spectrum of altered language abilities, manifest various phenotypes and offer details of multifactorial determinants of language function. Data from this review have revealed a predominance of regulatory networks involved in the control of differentiation and functioning of neurons, neuronal tracks and connections among brain structures associated with both cognitive and language faculties. Our findings, furthermore, have highlighted several multifactorial determinants in overlapping speech and language phenotypes. Collectively this analysis has revealed an interconnected developmental network and a close association of the language faculty with cognitive functions, a finding that has the potential to provide insight into linguistic hypotheses defining in particular, the contribution of genetic elements to and the modular nature of the language faculty.

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Genetic insights into the functional elements of language

Szalontai

Csiszár

2013

Hum Genet

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Correlations between behavior, memory, sleep-wake and melatonin in Williams-Beuren syndrome

Santoro

Giacheti

Rossi

et al. 2016

Physiology & Behavior

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Williams-Beuren syndrome (WBS), a neurodevelopmental disorder caused by a microdeletion on chromosomic region 7q11.23, presents with peculiar behavioral and neurocognitive phenotypes that are marked by apparently preserved social and communicative abilities, which contrasts with low overall cognitive and particularly visuospatial performance. In addition, parents often report complaints of sleep disorders and behavioral problems of unknown cause. Sleep is a biological phenomenon that is modulated by the plasma concentration of melatonin and with influence on behavioral aspects and memory. Thus, this study sought to investigate the behavior, memory and the presence of sleep disorders in WBS and to correlate these factors with each other and with the plasma melatonin content. We used the Child Behavior Checklist for ages 6-18 (CBCL), the digit subtest of the Wechsler scale for auditory memory, the visual sequential memory subtest of the Illinois Test of Psycholinguistic Abilities (ITPA) and the Sleep Disturbance Scale for Children (SDSC). Determination of urinary aMT6s, an indirect measure of plasma melatonin content, was held for 72h by ELISA, and the analysis of the circadian rhythm of this content was performed by the Cosinor method. The results of the CBCL showed that 87% of the WBS group presented with a clinical score on the overall competence and total behavioral problems. Furthermore, the behavioral problems that were most frequently reported by parents were anxiety and problems of thought. All individuals with WBS presented with impairments in auditory memory and 47% with impairments in visual sequential memory; 65% of the WBS group presented with an indicative of at least one sleep disorder, where respiratory, initiation and maintenance of sleep (DIMS) and hyperhidrosis were the most frequent disorders. The night time aMT6s levels were lower in individuals with WBS when compared with controls; 53% of the WBS group did not present with circadian rhythm variations in aMT6s levels. In addition, there was a negative correlation between the scores of auditory memory and the total score of sleep disorders and between the DIMS and nocturnal aMT6s content. In conclusion, in the present study, individuals with WBS showed a high frequency of behavioral and memory problems, sleep disturbances and no rhythm variation in aMT6s levels. The low melatonin content may be related with sleep disorders in this population, which, in turn, can have an adverse effect on specific cognitive skills such as memory.

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Current status of the Matson Evaluation of Drug Side Effects (MEDS)

Matson

Cervantes

2013

Research in Developmental Disabilities

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Psycholinguistic abilities of children with Williams syndrome

Cited by 3 publications

References 35 publications

Genetic insights into the functional elements of language

Genetic insights into the functional elements of language

Correlations between behavior, memory, sleep-wake and melatonin in Williams-Beuren syndrome

Current status of the Matson Evaluation of Drug Side Effects (MEDS)

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