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  1. AU="Skei, Sigmund"
  2. AU="Gillet, Jean‐François"
  3. AU="McKee, Mary"
  4. AU="Hajar Vaseghi"
  5. AU="M.Haney, "
  6. AU="R. Kappenberger"
  7. AU="Sempoux, Christine" AU="Sempoux, Christine"
  8. AU=Choi Wonseon
  9. AU=Gudowska-Sawczuk Monika AU=Gudowska-Sawczuk Monika
  10. AU="Roufosse, Florence"
  11. AU=Rugolotto Silvana
  12. AU="Herron, Benjamin"
  13. AU="Fernández Menéndez, Jorge"
  14. AU="Nguyen, Hang Tt"
  15. AU="Tahiri, M"
  16. AU=Zhang Ying-Ying
  17. AU="Warkaye, Samson"
  18. AU="Bavor, Claire"

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  1. Artikel ; Online: Executive Functions in a Population of Individuals with CHARGE Syndrome: Findings from Performance-Based and Rating Scale Measures According to a 3-Factor Model.

    Skei, Lynn / von Tetzchner, Stephen / Hartshorne, Timothy / Skei, Sigmund / Landrø, Nils Inge

    Developmental neurorehabilitation

    2024  Band 26, Heft 6-7, Seite(n) 349–359

    Abstract: Purpose: To identify possible predictors of executive functions of individuals with CHARGE syndrome, as these will be important targets for interventions.: Methods: A population-based cross-sectional study investigating the executive functions of a ... ...

    Abstract Purpose: To identify possible predictors of executive functions of individuals with CHARGE syndrome, as these will be important targets for interventions.
    Methods: A population-based cross-sectional study investigating the executive functions of a representative sample of 35 Norwegians with CHARGE syndrome divided into two subgroups to handle their inherent heterogeneity. Both performance-based measures and rating scale findings were included and organized according to the 3-factor model of Miyake and colleagues.
    Results: Both measures showed comprehensive executive dysfunctions within the population, which were largely unrelated to deafblindness. Working memory stood out as a strength within the executive domain and the only factor presenting results within the normal range. Verbal working memory was a particular cognitive resource for participants with deafblindness, and, unlike those without deafblindness, unrelated to sensorimotor functions.
    Conclusions: Individuals with CHARGE syndrome appear to be at risk for underdeveloped executive functions due to neurogenetic and environmental factors. Performance-based measures and ratings from caregivers gave unique and complementary knowledge and implied the need of both when investigating executive functioning in CHARGE syndrome. Participants with deafblindness presented strong verbal working memory despite their auditory impairments, indicating effective compensatory mechanisms The results also indicated an untapped cognitive potential in both subgroups. Because of their relatively advanced working memory significantly correlating with global cognition, the environment should assume equal learning potential of individuals with CHARGE syndrome regardless of their degree of sensory impairments.
    Mesh-Begriff(e) Humans ; Executive Function ; CHARGE Syndrome ; Cross-Sectional Studies ; Deaf-Blind Disorders ; Norway ; Cognition ; Memory, Short-Term ; Neuropsychological Tests
    Sprache Englisch
    Erscheinungsdatum 2024-01-06
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 2280007-4
    ISSN 1751-8431 ; 1751-8423
    ISSN (online) 1751-8431
    ISSN 1751-8423
    DOI 10.1080/17518423.2023.2242942
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: The assessment and diagnosis of intellectual disability when development is atypical. A Norwegian population study of individuals with CHARGE syndrome.

    Skei, Lynn / Skei, Sigmund / von Tetzchner, Stephen / Hartshorne, Timothy / Landrø, Nils Inge

    The International journal of neuroscience

    2023  , Seite(n) 1–14

    Abstract: Aim: This paper aimed to answer how psychometric methods based on neurotypical populations can serve as valid instruments in the assessment and diagnosis of intellectual disability in individuals with atypical development. The genetic, structural, and ... ...

    Abstract Aim: This paper aimed to answer how psychometric methods based on neurotypical populations can serve as valid instruments in the assessment and diagnosis of intellectual disability in individuals with atypical development. The genetic, structural, and functional features of CHARGE make it uniquely suited to address this question.
    Method: A Norwegian population of individuals with CHARGE (
    Result: Significant differences emerged between the participants and the norm samples. Global cognition obtained from Wechsler revealed a bimodal distribution, suggesting a two-group sample, with the youngest children forming their own subgroup. Comparisons of the different age-groups' performances demonstrated the lowest results among the preschoolers while the adults scored the highest. The global adaptive behavior score turned out significantly lower than the performance-based scores, thereby deflating the overall estimate of global intellectual abilities.
    Conclusion: For individuals with CHARGE, the effect of the atypicality seemed most apparent during early childhood, stabilizing and subsiding towards adulthood. The test results' interpretability was weakest for the preschoolers progressively increasing until peaking in adulthood, emphasizing the importance of delaying the assessment and diagnosis of intellectual disability. Because of several validity issues connected to the observation-based measure, complementary testing should precede clinical evaluations when possible in the diagnostics of individuals with CHARGE.
    Sprache Englisch
    Erscheinungsdatum 2023-09-07
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 3061-2
    ISSN 1563-5279 ; 1543-5245 ; 0020-7454
    ISSN (online) 1563-5279 ; 1543-5245
    ISSN 0020-7454
    DOI 10.1080/00207454.2023.2240485
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: For mye fornavn.

    Skei, Sigmund

    Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke

    2012  Band 132, Heft 23-24, Seite(n) 2587; author reply 2590–1

    Titelübersetzung Too many first names.
    Mesh-Begriff(e) Humans ; Interpersonal Relations ; Physician-Patient Relations
    Sprache Norwegisch
    Erscheinungsdatum 2012-12-11
    Erscheinungsland Norway
    Dokumenttyp Comment ; Letter
    ZDB-ID 603504-8
    ISSN 0807-7096 ; 0029-2001
    ISSN (online) 0807-7096
    ISSN 0029-2001
    DOI 10.4045/tidsskr.12.1356
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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