View in EDS PDF Full Text

Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.

Saved in:
Bibliographic Details
Title: Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.
Authors: Verbesselt, Jente1,2 jente@verbesselt.net, Breckpot, Jeroen1,3, Zink, Inge2,4, Swillen, Ann1,3
Source: Journal of Speech, Language & Hearing Research. Nov2024, Vol. 67 Issue 11, p4487-4503. 17p.
Subject Terms: *Communicative competence, *Intellect, *Academic medical centers, *Data analysis, *Attention-deficit hyperactivity disorder, *Psychology of school children, *Phonological awareness, *Autism, *Verbal behavior testing, *Longitudinal method, *Speech evaluation, *Asperger's syndrome, *Comparative studies, *Vocabulary, *Hearing disorders, *Special education, *Language acquisition, *Articulation (Speech), Cross-sectional method, Child psychopathology, Research funding, T-test (Statistics), Premature infants, Interviewing, Questionnaires, Sex distribution, Chromosome abnormalities, Descriptive statistics, Mann Whitney U Test, Social skills, Statistics, Early diagnosis, Confidence intervals, Data analysis software, Phenotypes, Comorbidity, Social classes
Geographic Terms: Belgium
Abstract: Purpose: Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neuro-developmental difficulties and disorders, such as language disorders, intellectual disability, and autism spectrum disorder. The purpose of the current study was to characterize language profiles of school-age children with proximal 16p11.2 CNVs, in relation to the normative sample and unaffected siblings of children with 16p11.2DS. Method: Standardized language tests were conducted in 33 school-age children with BP4-BP5 16p11.2 CNVs and eight unaffected siblings of children with 16p11.2DS to evaluate language production and comprehension skills across various language domains. A standardized intelligence test was also administered, and parents completed a standardized questionnaire to assess autistic traits. Language profiles were compared across 16p11.2 CNVs and intrafamilial pairs. The influence of nonverbal intelligence and autistic traits on language outcomes was investigated. Results: No significant differences were found between children with 16p11.2DS and those with 16p11.2Dup, although both groups exhibited significantly poorer language skills compared to the normative sample and unaffected siblings of children with 16p11.2DS. Severe language deficits were identified in 70% of individuals with 16p11.2 CNVs across all language subdomains, with significantly better receptive vocabulary skills than overall receptive language abilities. In children with 16p11.2DS, expressive language deficits were more pronounced than receptive deficits. In contrast, only in children with 16p11.2Dup did nonverbal intelligence influence their language outcomes. Conclusions: The current study contributes to the deeper understanding of language profiles in 16p11.2 CNVs in a clinically ascertained cohort, indicating generalized deficits across multiple language domains, rather than a syndrome-specific pattern targeting specific subdomains. The findings underscore the importance of early diagnosis, targeted therapy, and monitoring of language skills in children with 16p11.2 CNVs. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Speech, Language & Hearing Research is the property of American Speech-Language-Hearing Association and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Education Research Complete
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: ehh
DbLabel: Education Research Complete
An: 180765750
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Verbesselt%2C+Jente%22">Verbesselt, Jente</searchLink><relatesTo>1,2</relatesTo><i> jente@verbesselt.net</i><br /><searchLink fieldCode="AR" term="%22Breckpot%2C+Jeroen%22">Breckpot, Jeroen</searchLink><relatesTo>1,3</relatesTo><br /><searchLink fieldCode="AR" term="%22Zink%2C+Inge%22">Zink, Inge</searchLink><relatesTo>2,4</relatesTo><br /><searchLink fieldCode="AR" term="%22Swillen%2C+Ann%22">Swillen, Ann</searchLink><relatesTo>1,3</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Journal+of+Speech%2C+Language+%26+Hearing+Research%22">Journal of Speech, Language & Hearing Research</searchLink>. Nov2024, Vol. 67 Issue 11, p4487-4503. 17p.
– Name: Subject
  Label: Subject Terms
  Group: Su
  Data: *<searchLink fieldCode="DE" term="%22Communicative+competence%22">Communicative competence</searchLink><br />*<searchLink fieldCode="DE" term="%22Intellect%22">Intellect</searchLink><br />*<searchLink fieldCode="DE" term="%22Academic+medical+centers%22">Academic medical centers</searchLink><br />*<searchLink fieldCode="DE" term="%22Data+analysis%22">Data analysis</searchLink><br />*<searchLink fieldCode="DE" term="%22Attention-deficit+hyperactivity+disorder%22">Attention-deficit hyperactivity disorder</searchLink><br />*<searchLink fieldCode="DE" term="%22Psychology+of+school+children%22">Psychology of school children</searchLink><br />*<searchLink fieldCode="DE" term="%22Phonological+awareness%22">Phonological awareness</searchLink><br />*<searchLink fieldCode="DE" term="%22Autism%22">Autism</searchLink><br />*<searchLink fieldCode="DE" term="%22Verbal+behavior+testing%22">Verbal behavior testing</searchLink><br />*<searchLink fieldCode="DE" term="%22Longitudinal+method%22">Longitudinal method</searchLink><br />*<searchLink fieldCode="DE" term="%22Speech+evaluation%22">Speech evaluation</searchLink><br />*<searchLink fieldCode="DE" term="%22Asperger's+syndrome%22">Asperger's syndrome</searchLink><br />*<searchLink fieldCode="DE" term="%22Comparative+studies%22">Comparative studies</searchLink><br />*<searchLink fieldCode="DE" term="%22Vocabulary%22">Vocabulary</searchLink><br />*<searchLink fieldCode="DE" term="%22Hearing+disorders%22">Hearing disorders</searchLink><br />*<searchLink fieldCode="DE" term="%22Special+education%22">Special education</searchLink><br />*<searchLink fieldCode="DE" term="%22Language+acquisition%22">Language acquisition</searchLink><br />*<searchLink fieldCode="DE" term="%22Articulation+%28Speech%29%22">Articulation (Speech)</searchLink><br /><searchLink fieldCode="DE" term="%22Cross-sectional+method%22">Cross-sectional method</searchLink><br /><searchLink fieldCode="DE" term="%22Child+psychopathology%22">Child psychopathology</searchLink><br /><searchLink fieldCode="DE" term="%22Research+funding%22">Research funding</searchLink><br /><searchLink fieldCode="DE" term="%22T-test+%28Statistics%29%22">T-test (Statistics)</searchLink><br /><searchLink fieldCode="DE" term="%22Premature+infants%22">Premature infants</searchLink><br /><searchLink fieldCode="DE" term="%22Interviewing%22">Interviewing</searchLink><br /><searchLink fieldCode="DE" term="%22Questionnaires%22">Questionnaires</searchLink><br /><searchLink fieldCode="DE" term="%22Sex+distribution%22">Sex distribution</searchLink><br /><searchLink fieldCode="DE" term="%22Chromosome+abnormalities%22">Chromosome abnormalities</searchLink><br /><searchLink fieldCode="DE" term="%22Descriptive+statistics%22">Descriptive statistics</searchLink><br /><searchLink fieldCode="DE" term="%22Mann+Whitney+U+Test%22">Mann Whitney U Test</searchLink><br /><searchLink fieldCode="DE" term="%22Social+skills%22">Social skills</searchLink><br /><searchLink fieldCode="DE" term="%22Statistics%22">Statistics</searchLink><br /><searchLink fieldCode="DE" term="%22Early+diagnosis%22">Early diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Confidence+intervals%22">Confidence intervals</searchLink><br /><searchLink fieldCode="DE" term="%22Data+analysis+software%22">Data analysis software</searchLink><br /><searchLink fieldCode="DE" term="%22Phenotypes%22">Phenotypes</searchLink><br /><searchLink fieldCode="DE" term="%22Comorbidity%22">Comorbidity</searchLink><br /><searchLink fieldCode="DE" term="%22Social+classes%22">Social classes</searchLink>
– Name: SubjectGeographic
  Label: Geographic Terms
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Belgium%22">Belgium</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Purpose: Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neuro-developmental difficulties and disorders, such as language disorders, intellectual disability, and autism spectrum disorder. The purpose of the current study was to characterize language profiles of school-age children with proximal 16p11.2 CNVs, in relation to the normative sample and unaffected siblings of children with 16p11.2DS. Method: Standardized language tests were conducted in 33 school-age children with BP4-BP5 16p11.2 CNVs and eight unaffected siblings of children with 16p11.2DS to evaluate language production and comprehension skills across various language domains. A standardized intelligence test was also administered, and parents completed a standardized questionnaire to assess autistic traits. Language profiles were compared across 16p11.2 CNVs and intrafamilial pairs. The influence of nonverbal intelligence and autistic traits on language outcomes was investigated. Results: No significant differences were found between children with 16p11.2DS and those with 16p11.2Dup, although both groups exhibited significantly poorer language skills compared to the normative sample and unaffected siblings of children with 16p11.2DS. Severe language deficits were identified in 70% of individuals with 16p11.2 CNVs across all language subdomains, with significantly better receptive vocabulary skills than overall receptive language abilities. In children with 16p11.2DS, expressive language deficits were more pronounced than receptive deficits. In contrast, only in children with 16p11.2Dup did nonverbal intelligence influence their language outcomes. Conclusions: The current study contributes to the deeper understanding of language profiles in 16p11.2 CNVs in a clinically ascertained cohort, indicating generalized deficits across multiple language domains, rather than a syndrome-specific pattern targeting specific subdomains. The findings underscore the importance of early diagnosis, targeted therapy, and monitoring of language skills in children with 16p11.2 CNVs. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Journal of Speech, Language & Hearing Research is the property of American Speech-Language-Hearing Association and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=ehh&AN=180765750
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1044/2024_JSLHR-24-00257
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 17
        StartPage: 4487
    Subjects:
      – SubjectFull: Communicative competence
        Type: general
      – SubjectFull: Intellect
        Type: general
      – SubjectFull: Academic medical centers
        Type: general
      – SubjectFull: Data analysis
        Type: general
      – SubjectFull: Attention-deficit hyperactivity disorder
        Type: general
      – SubjectFull: Psychology of school children
        Type: general
      – SubjectFull: Phonological awareness
        Type: general
      – SubjectFull: Autism
        Type: general
      – SubjectFull: Verbal behavior testing
        Type: general
      – SubjectFull: Longitudinal method
        Type: general
      – SubjectFull: Speech evaluation
        Type: general
      – SubjectFull: Asperger's syndrome
        Type: general
      – SubjectFull: Comparative studies
        Type: general
      – SubjectFull: Vocabulary
        Type: general
      – SubjectFull: Hearing disorders
        Type: general
      – SubjectFull: Special education
        Type: general
      – SubjectFull: Language acquisition
        Type: general
      – SubjectFull: Articulation (Speech)
        Type: general
      – SubjectFull: Cross-sectional method
        Type: general
      – SubjectFull: Child psychopathology
        Type: general
      – SubjectFull: Research funding
        Type: general
      – SubjectFull: T-test (Statistics)
        Type: general
      – SubjectFull: Premature infants
        Type: general
      – SubjectFull: Interviewing
        Type: general
      – SubjectFull: Questionnaires
        Type: general
      – SubjectFull: Sex distribution
        Type: general
      – SubjectFull: Chromosome abnormalities
        Type: general
      – SubjectFull: Descriptive statistics
        Type: general
      – SubjectFull: Mann Whitney U Test
        Type: general
      – SubjectFull: Social skills
        Type: general
      – SubjectFull: Statistics
        Type: general
      – SubjectFull: Early diagnosis
        Type: general
      – SubjectFull: Confidence intervals
        Type: general
      – SubjectFull: Data analysis software
        Type: general
      – SubjectFull: Phenotypes
        Type: general
      – SubjectFull: Comorbidity
        Type: general
      – SubjectFull: Social classes
        Type: general
      – SubjectFull: Belgium
        Type: general
    Titles:
      – TitleFull: Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Verbesselt, Jente
      – PersonEntity:
          Name:
            NameFull: Breckpot, Jeroen
      – PersonEntity:
          Name:
            NameFull: Zink, Inge
      – PersonEntity:
          Name:
            NameFull: Swillen, Ann
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 11
              Text: Nov2024
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-print
              Value: 10924388
          Numbering:
            – Type: volume
              Value: 67
            – Type: issue
              Value: 11
          Titles:
            – TitleFull: Journal of Speech, Language & Hearing Research
              Type: main
ResultId 1