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Robust Candidates for Language Development and Evolution Are Significantly Dysregulated in the Blood of People With Williams Syndrome.

ABSTRACT: Williams syndrome (WS) is a clinical condition, involving cognitive deficits and an uneven language profile, which has been the object of intense inquiry over the last decades. Although WS results from the hemideletion of around two dozen genes in chromosome 7, no gene has yet been probed to account for, or contribute significantly to, the language problems exhibited by the affected people. In this paper we have relied on gene expression profiles in the peripheral blood of WS patients obtained by microarray analysis and show that several robust candidates for language disorders and/or for language evolution in the species, all of them located outside the hemideleted region, are up- or downregulated in the blood of subjects with WS. Most of these genes play a role in the development and function of brain areas involved in language processing, which exhibit structural and functional anomalies in people with this condition. Overall, these genes emerge as robust candidates for language dysfunction in WS.

SUBMITTER: Benitez-Burraco A

PROVIDER: S-EPMC6444191 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Robust Candidates for Language Development and Evolution Are Significantly Dysregulated in the Blood of People With Williams Syndrome.

Benítez-Burraco Antonio A Kimura Ryo R

Frontiers in neuroscience 20190326

Williams syndrome (WS) is a clinical condition, involving cognitive deficits and an uneven language profile, which has been the object of intense inquiry over the last decades. Although WS results from the hemideletion of around two dozen genes in chromosome 7, no gene has yet been probed to account for, or contribute significantly to, the language problems exhibited by the affected people. In this paper we have relied on gene expression profiles in the peripheral blood of WS patients obtained b ...[more]

PMID: 30971880

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Project description:BACKGROUND:Sleep problems have been shown to have a negative impact on language development and behavior for both typically developing children and children with a range of neurodevelopmental disorders. The relation of sleep characteristics and problems to language and behavior for children with Williams syndrome (WS) is unclear. The goal of this study was to address these relations for 2-year-olds with WS. Associations of nonverbal reasoning ability, nighttime sleep duration, and excessive daytime sleepiness with language ability and behavior problems were considered. METHOD:Ninety-six 2-year-olds with genetically confirmed classic-length WS deletions participated. Parents completed the Pediatric Sleep Questionnaire, which includes a Sleep-Related Breathing Disorder (SRBD) scale with a subscale measuring excessive daytime sleepiness, to assess sleep characteristics and problems. Parents also completed the Child Behavior Checklist (CBCL) and the MacArthur-Bates Communicative Development Inventory: Words and Sentences to assess behavior problems and expressive vocabulary, respectively. Children completed the Mullen Scales of Early Learning to measure nonverbal reasoning and language abilities. RESULTS:Parents indicated that children slept an average of 10.36?h per night (SD = 1.09, range 7.3-13.3), not differing significantly from the mean reported by Bell and Zimmerman (2010) for typically developing toddlers (p = .787). Sixteen percent of participants screened positive for SRBD and 30% for excessive daytime sleepiness. Children who screened positive for SRBD had significantly more behavior problems on all CBCL scales than children who screened negative. Children with excessive daytime sleepiness had significantly more attention/hyperactivity, stress, and externalizing problems than those who did not have daytime sleepiness. Individual differences in parent-reported nighttime sleep duration and directly measured nonverbal reasoning abilities accounted for unique variance in expressive language, receptive language, and internalizing problems. Individual differences in parent-reported daytime sleepiness accounted for unique variance in externalizing problems. CONCLUSIONS:The relations of nighttime sleep duration, positive screens for SRBD, and excessive daytime sleepiness to language and behavior in toddlers with WS parallel prior findings for typically developing toddlers. These results highlight the importance of screening young children with WS for sleep problems. Studies investigating the efficacy of behavioral strategies for improving sleep in children with WS are warranted.

Dataset Information

Robust Candidates for Language Development and Evolution Are Significantly Dysregulated in the Blood of People With Williams Syndrome.

Publications

Robust Candidates for Language Development and Evolution Are Significantly Dysregulated in the Blood of People With Williams Syndrome.

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