Autism Spectrum Disorder Profile in Neurofibromatosis Type I / Shruti GARG in Journal of Autism and Developmental Disorders, 45-6 (June 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-6 (June 2015) . - p.1649-1657 Titre : Autism Spectrum Disorder Profile in Neurofibromatosis Type I Type de document : texte imprimé Auteurs : Shruti GARG, Auteur ; Ellen PLASSCHAERT, Auteur ; Mie-Jef DESCHEEMAEKER, Auteur ; Susan HUSON, Auteur ; Martine BORGHGRAEF, Auteur ; Annick VOGELS, Auteur ; D. Gareth EVANS, Auteur ; Eric LEGIUS, Auteur ; Jonathan GREEN, Auteur Article en page(s) : p.1649-1657 Langues : Anglais (eng) Mots-clés : NF1  ASD  Neurofibromatosis Type 1  Autism spectrum disorder  SRS  ADOS Index. décimale : PER Périodiques Résumé : Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21–40 %. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking. This study characterized the phenotypic profile of ASD symptomatology presenting in 4–16 year old children with NF1 (n = 36) using evidence from parent-rated Social Responsiveness Scale and researcher autism diagnostic observation Scale-2. Compared to IQ-matched reference groups of children with autism and ASD, the NF1 profile shows overall similarity but improved eye contact, less repetitive behaviors and better language skills. En ligne : http://dx.doi.org/10.1007/s10803-014-2321-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259 [article] Autism Spectrum Disorder Profile in Neurofibromatosis Type I [texte imprimé] / Shruti GARG, Auteur ; Ellen PLASSCHAERT, Auteur ; Mie-Jef DESCHEEMAEKER, Auteur ; Susan HUSON, Auteur ; Martine BORGHGRAEF, Auteur ; Annick VOGELS, Auteur ; D. Gareth EVANS, Auteur ; Eric LEGIUS, Auteur ; Jonathan GREEN, Auteur . - p.1649-1657. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-6 (June 2015) . - p.1649-1657 Mots-clés : NF1  ASD  Neurofibromatosis Type 1  Autism spectrum disorder  SRS  ADOS Index. décimale : PER Périodiques Résumé : Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21–40 %. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking. This study characterized the phenotypic profile of ASD symptomatology presenting in 4–16 year old children with NF1 (n = 36) using evidence from parent-rated Social Responsiveness Scale and researcher autism diagnostic observation Scale-2. Compared to IQ-matched reference groups of children with autism and ASD, the NF1 profile shows overall similarity but improved eye contact, less repetitive behaviors and better language skills. En ligne : http://dx.doi.org/10.1007/s10803-014-2321-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259

The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder / Sophie RIJN in Journal of Autism and Developmental Disorders, 44-2 (February 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-2 (February 2014) . - p.310-320 Titre : The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Sophie RIJN, Auteur ; Lex STOCKMANN, Auteur ; Martine BORGHGRAEF, Auteur ; Hilgo BRUINING, Auteur ; Conny RAVENSWAAIJ-ARTS, Auteur ; Lutgarde GOVAERTS, Auteur ; Kerstin HANSSON, Auteur ; Hanna SWAAB, Auteur Article en page(s) : p.310-320 Langues : Anglais (eng) Mots-clés : Klinefelter  Trisomy X  Autism  Social functioning  X chromosome  Sex chromosomal aneuploidies Index. décimale : PER Périodiques Résumé : The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girls with Trisomy X), 58 children with ASD and 106 controls, aged 9 to 18 years. We used the Autism Diagnostic Interview, Social Responsiveness Scale, Social Anxiety Scale and Social Skills Rating System. In the extra X group, levels of social dysfunction and autism symptoms were increased, being in between controls and ASD. In contrast to the ASD group, the extra X group showed increased social anxiety. The effects were similar for boys and girls with an extra X chromosome. En ligne : http://dx.doi.org/10.1007/s10803-013-1860-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=223 [article] The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder [texte imprimé] / Sophie RIJN, Auteur ; Lex STOCKMANN, Auteur ; Martine BORGHGRAEF, Auteur ; Hilgo BRUINING, Auteur ; Conny RAVENSWAAIJ-ARTS, Auteur ; Lutgarde GOVAERTS, Auteur ; Kerstin HANSSON, Auteur ; Hanna SWAAB, Auteur . - p.310-320. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-2 (February 2014) . - p.310-320 Mots-clés : Klinefelter  Trisomy X  Autism  Social functioning  X chromosome  Sex chromosomal aneuploidies Index. décimale : PER Périodiques Résumé : The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girls with Trisomy X), 58 children with ASD and 106 controls, aged 9 to 18 years. We used the Autism Diagnostic Interview, Social Responsiveness Scale, Social Anxiety Scale and Social Skills Rating System. In the extra X group, levels of social dysfunction and autism symptoms were increased, being in between controls and ASD. In contrast to the ASD group, the extra X group showed increased social anxiety. The effects were similar for boys and girls with an extra X chromosome. En ligne : http://dx.doi.org/10.1007/s10803-013-1860-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=223

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