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Impaired communication ability in SOX11 syndrome.

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Title: Impaired communication ability in SOX11 syndrome.
Authors: Smith, H. (AUTHOR), Al‐Jawahiri, R. (AUTHOR), Stokes, L. (AUTHOR), Freeth, M. (AUTHOR), Fricke, S. (AUTHOR), Matthews, D. (AUTHOR), McNeill, A. (AUTHOR)
Source: Journal of Intellectual Disability Research. Mar2024, Vol. 68 Issue 3, p285-292. 8p.
Subjects: Language & languages, Child psychopathology, Research funding, Questionnaires, Autism, Parent attitudes, Communicative disorders, Genetic disorders, Ability, Comparative studies, Asperger's syndrome, Interpersonal relations, Verbal behavior, Caregiver attitudes, Language acquisition, Disease risk factors, Symptoms
Abstract: Background: Speech and language skills are important for social interaction and learning. This study characterised the communication abilities of verbal individuals with SOX11 syndrome using a standardised parent/carer questionnaire, the Children's Communication Checklist (CCC‐2). Method: Thirteen parent/carers of verbal individuals (aged 5–19 years) diagnosed with SOX11 syndrome completed the CCC‐2. In order to contextualise findings, responses were compared to norms and to data from Noonan syndrome, a relatively well‐known genetic diagnosis associated with communication impairment. Results: For all individuals, the CCC‐2 composite score indicated significant communication difficulties. Language structure (speech, syntax, semantics and coherence), pragmatic language (inappropriate initiation, stereotyped language use of context and non‐verbal communication) and autistic features (social relations and interests) scores were lower than typically developing norms. Subscale comparisons revealed relative difference in use of context compared to other pragmatic domains (stereotyped language and inappropriate initiation). Individual scores showed substantial variation, particularly in regard to language structure profile. Differences were more pronounced than for Noonan syndrome, specifically in domains of speech, syntax, non‐verbal communication and social relations. Conclusions: SOX11 syndrome is associated with communication impairment. It is important to assess communication abilities as part of the management of individuals with SOX11 syndrome and understand individual strengths and difficulties in order to provide targeted support. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Intellectual Disability Research is the property of Wiley-Blackwell 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: Psychology and Behavioral Sciences Collection
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  Data: Impaired communication ability in SOX11 syndrome.
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  Data: <searchLink fieldCode="AR" term="%22Smith%2C+H%2E%22">Smith, H.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al‐Jawahiri%2C+R%2E%22">Al‐Jawahiri, R.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Stokes%2C+L%2E%22">Stokes, L.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Freeth%2C+M%2E%22">Freeth, M.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fricke%2C+S%2E%22">Fricke, S.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Matthews%2C+D%2E%22">Matthews, D.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22McNeill%2C+A%2E%22">McNeill, A.</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Journal+of+Intellectual+Disability+Research%22">Journal of Intellectual Disability Research</searchLink>. Mar2024, Vol. 68 Issue 3, p285-292. 8p.
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  Data: <searchLink fieldCode="DE" term="%22Language+%26+languages%22">Language & languages</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="%22Questionnaires%22">Questionnaires</searchLink><br /><searchLink fieldCode="DE" term="%22Autism%22">Autism</searchLink><br /><searchLink fieldCode="DE" term="%22Parent+attitudes%22">Parent attitudes</searchLink><br /><searchLink fieldCode="DE" term="%22Communicative+disorders%22">Communicative disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Ability%22">Ability</searchLink><br /><searchLink fieldCode="DE" term="%22Comparative+studies%22">Comparative studies</searchLink><br /><searchLink fieldCode="DE" term="%22Asperger's+syndrome%22">Asperger's syndrome</searchLink><br /><searchLink fieldCode="DE" term="%22Interpersonal+relations%22">Interpersonal relations</searchLink><br /><searchLink fieldCode="DE" term="%22Verbal+behavior%22">Verbal behavior</searchLink><br /><searchLink fieldCode="DE" term="%22Caregiver+attitudes%22">Caregiver attitudes</searchLink><br /><searchLink fieldCode="DE" term="%22Language+acquisition%22">Language acquisition</searchLink><br /><searchLink fieldCode="DE" term="%22Disease+risk+factors%22">Disease risk factors</searchLink><br /><searchLink fieldCode="DE" term="%22Symptoms%22">Symptoms</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: Background: Speech and language skills are important for social interaction and learning. This study characterised the communication abilities of verbal individuals with SOX11 syndrome using a standardised parent/carer questionnaire, the Children's Communication Checklist (CCC‐2). Method: Thirteen parent/carers of verbal individuals (aged 5–19 years) diagnosed with SOX11 syndrome completed the CCC‐2. In order to contextualise findings, responses were compared to norms and to data from Noonan syndrome, a relatively well‐known genetic diagnosis associated with communication impairment. Results: For all individuals, the CCC‐2 composite score indicated significant communication difficulties. Language structure (speech, syntax, semantics and coherence), pragmatic language (inappropriate initiation, stereotyped language use of context and non‐verbal communication) and autistic features (social relations and interests) scores were lower than typically developing norms. Subscale comparisons revealed relative difference in use of context compared to other pragmatic domains (stereotyped language and inappropriate initiation). Individual scores showed substantial variation, particularly in regard to language structure profile. Differences were more pronounced than for Noonan syndrome, specifically in domains of speech, syntax, non‐verbal communication and social relations. Conclusions: SOX11 syndrome is associated with communication impairment. It is important to assess communication abilities as part of the management of individuals with SOX11 syndrome and understand individual strengths and difficulties in order to provide targeted support. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Data: <i>Copyright of Journal of Intellectual Disability Research is the property of Wiley-Blackwell 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.)
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        Value: 10.1111/jir.13105
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      – Code: eng
        Text: English
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      Pagination:
        PageCount: 8
        StartPage: 285
    Subjects:
      – SubjectFull: Language & languages
        Type: general
      – SubjectFull: Child psychopathology
        Type: general
      – SubjectFull: Research funding
        Type: general
      – SubjectFull: Questionnaires
        Type: general
      – SubjectFull: Autism
        Type: general
      – SubjectFull: Parent attitudes
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      – SubjectFull: Communicative disorders
        Type: general
      – SubjectFull: Genetic disorders
        Type: general
      – SubjectFull: Ability
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      – SubjectFull: Comparative studies
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      – SubjectFull: Asperger's syndrome
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      – SubjectFull: Interpersonal relations
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      – SubjectFull: Verbal behavior
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      – SubjectFull: Caregiver attitudes
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      – SubjectFull: Disease risk factors
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      – SubjectFull: Symptoms
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      – TitleFull: Impaired communication ability in SOX11 syndrome.
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              Text: Mar2024
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