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Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders / Nancy RAITANO LEE in Journal of Child Psychology and Psychiatry, 53-10 (October 2012)
[article]
Titre : Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Nancy RAITANO LEE, Auteur ; Gregory L. WALLACE, Auteur ; Elizabeth I. ADEYEMI, Auteur ; Katherine C. LOPEZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; Liv S. CLASEN, Auteur ; Jay N. GIEDD, Auteur Année de publication : 2012 Article en page(s) : p.1072-81 Langues : Anglais (eng) Mots-clés : Chromosome anomalies social cognition language disorder autistic disorder sex differences Cognition sociale Index. décimale : PER Périodiques Résumé : Background: Supernumerary sex chromosome aneuploidies (X/Y-aneuploidies), the presence of extra X and/or Y chromosomes, are associated with heightened rates of language impairments and social difficulties. However, no single study has examined different language domains and social functioning in the same sample of children with tri-, tetra-, and pentasomy X/Y-aneuploidy. The current research sought to fill this gap in the literature and to examine dosage effects of X and Y chromosomes on language and social functioning. Methods: Participants included 110 youth with X/Y-aneuploidies (32 female) and 52 with typical development (25 female) matched on age (mean ∼12 years; range 4–22) and maternal education. Participants completed the Wechsler intelligence scales, and parents completed the Children’s Communication Checklist-2 and the Social Responsiveness Scale to assess language skills and autistic traits, respectively. Results: Both supernumerary X and Y chromosomes were related to depressed structural and pragmatic language skills and increased autistic traits. The addition of a Y chromosome had a disproportionately greater impact on pragmatic language; the addition of one or more X chromosomes had a disproportionately greater impact on structural language. Conclusions: Given that we link extra X chromosomes with structural language impairments and an extra Y chromosome with pragmatic language impairments, X/Y-aneuploidies may provide clues to genetic mechanisms contributing to idiopathic language impairment and autism spectrum disorders. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2012.02573.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=181
in Journal of Child Psychology and Psychiatry > 53-10 (October 2012) . - p.1072-81[article] Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders [Texte imprimé et/ou numérique] / Nancy RAITANO LEE, Auteur ; Gregory L. WALLACE, Auteur ; Elizabeth I. ADEYEMI, Auteur ; Katherine C. LOPEZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; Liv S. CLASEN, Auteur ; Jay N. GIEDD, Auteur . - 2012 . - p.1072-81.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 53-10 (October 2012) . - p.1072-81
Mots-clés : Chromosome anomalies social cognition language disorder autistic disorder sex differences Cognition sociale Index. décimale : PER Périodiques Résumé : Background: Supernumerary sex chromosome aneuploidies (X/Y-aneuploidies), the presence of extra X and/or Y chromosomes, are associated with heightened rates of language impairments and social difficulties. However, no single study has examined different language domains and social functioning in the same sample of children with tri-, tetra-, and pentasomy X/Y-aneuploidy. The current research sought to fill this gap in the literature and to examine dosage effects of X and Y chromosomes on language and social functioning. Methods: Participants included 110 youth with X/Y-aneuploidies (32 female) and 52 with typical development (25 female) matched on age (mean ∼12 years; range 4–22) and maternal education. Participants completed the Wechsler intelligence scales, and parents completed the Children’s Communication Checklist-2 and the Social Responsiveness Scale to assess language skills and autistic traits, respectively. Results: Both supernumerary X and Y chromosomes were related to depressed structural and pragmatic language skills and increased autistic traits. The addition of a Y chromosome had a disproportionately greater impact on pragmatic language; the addition of one or more X chromosomes had a disproportionately greater impact on structural language. Conclusions: Given that we link extra X chromosomes with structural language impairments and an extra Y chromosome with pragmatic language impairments, X/Y-aneuploidies may provide clues to genetic mechanisms contributing to idiopathic language impairment and autism spectrum disorders. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2012.02573.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=181 Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class / Sarika U. PETERS in Journal of Child Psychology and Psychiatry, 53-2 (February 2012)
[article]
Titre : Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class Type de document : Texte imprimé et/ou numérique Auteurs : Sarika U. PETERS, Auteur ; Lucia HOROWITZ, Auteur ; Rene BARBIERI-WELGE, Auteur ; Julie LOUNDS TAYLOR, Auteur ; Rachel J. HUNDLEY, Auteur Année de publication : 2012 Article en page(s) : p.152-159 Langues : Anglais (eng) Mots-clés : Chromosome anomalies autistic disorder cognition adaptive behavior longitudinal studies Index. décimale : PER Périodiques Résumé : Background: Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual disability, lack of speech, and low threshold for laughter; it is considered a ‘syndromic’ form of autism spectrum disorder (ASD). Previous studies have indicated overlap of ASD and AS, primarily in individuals with larger (∼6 Mb) Class I deletions of chromosome 15q11-13. Questions remain regarding whether intellectual disability solely contributes to ASD features in AS and how ASD features in AS change over time. In this study, we used a dimensional approach to examine ASD symptom severity in individuals with AS Class I versus Class II deletions within the context of cognitive development over time. Methods: A total of 17 participants with a larger, Class I deletion and 25 participants with a smaller Class II deletion (∼5 Mb) were enrolled (age range = 2–25 years; 5 years 5 months). Standardized measures of cognition, language, motor skills, adaptive skills, maladaptive behavior, autism, and sensory-seeking behaviors/aversions were given at baseline and after 12 months. Results: Despite equivalent cognition and adaptive behavior, the results of repeated measures analyses of variance indicate that participants with Class I deletions have greater impairment in social affect (F = 8.65; p = .006) and more repetitive behaviors (F = 7.92; p = .008) compared to participants with Class II deletions. Although both groups improve in cognition over time, differences in ASD behaviors persist. Conclusions: Despite a lack of differences in cognition or adaptive behavior, individuals with Class I deletions have greater severity in ASD features and sensory aversions that remain over time. There are four genes (NIPA 1, NIPA 2, CYFIP1, and GCP5) missing in Class I and present in Class Il deletions, one or more of which may have a role in modifying the severity of social affect impairment, and level of restricted/repetitive behaviors in AS. Our results also suggest the utility of a dimensional, longitudinal approach to the assessment of ASD features in populations of individuals who are low functioning. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02455.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=150
in Journal of Child Psychology and Psychiatry > 53-2 (February 2012) . - p.152-159[article] Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class [Texte imprimé et/ou numérique] / Sarika U. PETERS, Auteur ; Lucia HOROWITZ, Auteur ; Rene BARBIERI-WELGE, Auteur ; Julie LOUNDS TAYLOR, Auteur ; Rachel J. HUNDLEY, Auteur . - 2012 . - p.152-159.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 53-2 (February 2012) . - p.152-159
Mots-clés : Chromosome anomalies autistic disorder cognition adaptive behavior longitudinal studies Index. décimale : PER Périodiques Résumé : Background: Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual disability, lack of speech, and low threshold for laughter; it is considered a ‘syndromic’ form of autism spectrum disorder (ASD). Previous studies have indicated overlap of ASD and AS, primarily in individuals with larger (∼6 Mb) Class I deletions of chromosome 15q11-13. Questions remain regarding whether intellectual disability solely contributes to ASD features in AS and how ASD features in AS change over time. In this study, we used a dimensional approach to examine ASD symptom severity in individuals with AS Class I versus Class II deletions within the context of cognitive development over time. Methods: A total of 17 participants with a larger, Class I deletion and 25 participants with a smaller Class II deletion (∼5 Mb) were enrolled (age range = 2–25 years; 5 years 5 months). Standardized measures of cognition, language, motor skills, adaptive skills, maladaptive behavior, autism, and sensory-seeking behaviors/aversions were given at baseline and after 12 months. Results: Despite equivalent cognition and adaptive behavior, the results of repeated measures analyses of variance indicate that participants with Class I deletions have greater impairment in social affect (F = 8.65; p = .006) and more repetitive behaviors (F = 7.92; p = .008) compared to participants with Class II deletions. Although both groups improve in cognition over time, differences in ASD behaviors persist. Conclusions: Despite a lack of differences in cognition or adaptive behavior, individuals with Class I deletions have greater severity in ASD features and sensory aversions that remain over time. There are four genes (NIPA 1, NIPA 2, CYFIP1, and GCP5) missing in Class I and present in Class Il deletions, one or more of which may have a role in modifying the severity of social affect impairment, and level of restricted/repetitive behaviors in AS. Our results also suggest the utility of a dimensional, longitudinal approach to the assessment of ASD features in populations of individuals who are low functioning. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02455.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=150