Abnormal wiring of the connectome in adults with high-functioning autism spectrum disorder / Ulrika ROINE in Molecular Autism, (December 2015)  

Public ISBD [article]  inMolecular Autism > (December 2015) . - p.1-11 Titre : Abnormal wiring of the connectome in adults with high-functioning autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Ulrika ROINE, Auteur ; Timo ROINE, Auteur ; Juha SALMI, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Pekka TANI, Auteur ; Sami LEPPAMAKI, Auteur ; Pertti RINTAHAKA, Auteur ; Karen CAEYENBERGHS, Auteur ; Alexander LEEMANS, Auteur ; Mikko SAMS, Auteur Article en page(s) : p.1-11 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Recent brain imaging findings suggest that there are widely distributed abnormalities affecting the brain connectivity in individuals with autism spectrum disorder (ASD). Using graph theoretical analysis, it is possible to investigate both global and local properties of brain’s wiring diagram, i.e., the connectome. En ligne : http://dx.doi.org/10.1186/s13229-015-0058-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Abnormal wiring of the connectome in adults with high-functioning autism spectrum disorder [Texte imprimé et/ou numérique] / Ulrika ROINE, Auteur ; Timo ROINE, Auteur ; Juha SALMI, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Pekka TANI, Auteur ; Sami LEPPAMAKI, Auteur ; Pertti RINTAHAKA, Auteur ; Karen CAEYENBERGHS, Auteur ; Alexander LEEMANS, Auteur ; Mikko SAMS, Auteur . - p.1-11. Langues : Anglais (eng) in Molecular Autism > (December 2015) . - p.1-11 Index. décimale : PER Périodiques Résumé : Recent brain imaging findings suggest that there are widely distributed abnormalities affecting the brain connectivity in individuals with autism spectrum disorder (ASD). Using graph theoretical analysis, it is possible to investigate both global and local properties of brain’s wiring diagram, i.e., the connectome. En ligne : http://dx.doi.org/10.1186/s13229-015-0058-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Comparison of Diagnostic Methods for Asperger Syndrome / Kristiina KOPRA in Journal of Autism and Developmental Disorders, 38-8 (September 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-8 (September 2008) . - p.1567-1573 Titre : Comparison of Diagnostic Methods for Asperger Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Kristiina KOPRA, Auteur ; E. Juulia PAAVONEN, Auteur ; Lennart VON WENDT, Auteur ; Taina NIEMINEN-VON WENDT, Auteur Année de publication : 2008 Article en page(s) : p.1567-1573 Langues : Anglais (eng) Mots-clés : Asperger-syndrome Diagnostic-criteria Sensitivity Specificity Index. décimale : PER Périodiques Résumé : Several different diagnostic sets of criteria exist for Asperger syndrome (AS), but there is no agreement on a gold standard. The aim of this study was to compare four diagnostic sets of criteria for AS: the ICD-10, the DSM-IV, the Gillberg & Gillberg, and the Szatmari criteria. The series consists of 36 children who had been referred to two centers with a tentative diagnosis of AS. The best agreement was between the ICD-10 and the DSM-IV criteria (Kappa coefficient 0.48), and the lowest between the Gillberg & Gillberg and Szatmari criteria (Kappa coefficient −0.21). The poor agreement between these sets of diagnostic criteria compromises the comparability of studies on AS. En ligne : http://dx.doi.org/10.1007/s10803-008-0537-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=539 [article] Comparison of Diagnostic Methods for Asperger Syndrome [Texte imprimé et/ou numérique] / Kristiina KOPRA, Auteur ; E. Juulia PAAVONEN, Auteur ; Lennart VON WENDT, Auteur ; Taina NIEMINEN-VON WENDT, Auteur . - 2008 . - p.1567-1573. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-8 (September 2008) . - p.1567-1573 Mots-clés : Asperger-syndrome Diagnostic-criteria Sensitivity Specificity Index. décimale : PER Périodiques Résumé : Several different diagnostic sets of criteria exist for Asperger syndrome (AS), but there is no agreement on a gold standard. The aim of this study was to compare four diagnostic sets of criteria for AS: the ICD-10, the DSM-IV, the Gillberg & Gillberg, and the Szatmari criteria. The series consists of 36 children who had been referred to two centers with a tentative diagnosis of AS. The best agreement was between the ICD-10 and the DSM-IV criteria (Kappa coefficient 0.48), and the lowest between the Gillberg & Gillberg and Szatmari criteria (Kappa coefficient −0.21). The poor agreement between these sets of diagnostic criteria compromises the comparability of studies on AS. En ligne : http://dx.doi.org/10.1007/s10803-008-0537-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=539

Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD) / Katri KANTOJARVI in Autism Research, 4-3 (June 2011)  

Public ISBD [article]  inAutism Research > 4-3 (June 2011) . - p.228-233 Titre : Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD) Type de document : Texte imprimé et/ou numérique Auteurs : Katri KANTOJARVI, Auteur ; Ilona KOTALA, Auteur ; Karola REHNSTROM, Auteur ; Tero YLISAUKKO-OJA, Auteur ; Raija VANHALA, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Lennart VON WENDT, Auteur ; Irma JARVELA, Auteur Année de publication : 2011 Article en page(s) : p.228-233 Langues : Anglais (eng) Mots-clés : ACSL4  autism spectrum disorders  DLG3  gene  IL1RAPL2  linkage  RPS6KA6  single nucleotide polymorphism  ZNF711  XLMR Index. décimale : PER Périodiques Résumé : About 80% of cases with autism express intellectual disability. Both in autism and in mental retardation without autism the majority of the cases are males, suggesting a X-chromosomal effect. In fact, some molecular evidence has been obtained for a common genetic background for autism spectrum disorders (ASD) and X-linked mental retardation (XLMR). In several genome-wide scans (GWS), evidence for linkage at X-chromosome has been reported including the GWS of Finnish ASD families with the highest multipoint lod score (MLS) of 2.75 obtained close to DXS7132 at Xq11.1. To further dissect the relationship between autism and genes implicated in XLMR, we have fine-mapped Xq11.1-q21.33 and analyzed five candidate genes in the region. We refined the region using 26 microsatellite markers and linkage analysis in 99 Finnish families with ASD. The most significant evidence for linkage was observed at DXS1225 on Xq21.1 with a nonparametric multipoint NPLall value of 3.43 (P = 0.0004). We sequenced the coding regions and splice sites of RPS6KA6 and ZNF711 residing at the peak region in 42 male patients from families contributing to the linkage. We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1-q21.33. En ligne : http://dx.doi.org/10.1002/aur.187 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127 [article] Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD) [Texte imprimé et/ou numérique] / Katri KANTOJARVI, Auteur ; Ilona KOTALA, Auteur ; Karola REHNSTROM, Auteur ; Tero YLISAUKKO-OJA, Auteur ; Raija VANHALA, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Lennart VON WENDT, Auteur ; Irma JARVELA, Auteur . - 2011 . - p.228-233. Langues : Anglais (eng) in Autism Research > 4-3 (June 2011) . - p.228-233 Mots-clés : ACSL4  autism spectrum disorders  DLG3  gene  IL1RAPL2  linkage  RPS6KA6  single nucleotide polymorphism  ZNF711  XLMR Index. décimale : PER Périodiques Résumé : About 80% of cases with autism express intellectual disability. Both in autism and in mental retardation without autism the majority of the cases are males, suggesting a X-chromosomal effect. In fact, some molecular evidence has been obtained for a common genetic background for autism spectrum disorders (ASD) and X-linked mental retardation (XLMR). In several genome-wide scans (GWS), evidence for linkage at X-chromosome has been reported including the GWS of Finnish ASD families with the highest multipoint lod score (MLS) of 2.75 obtained close to DXS7132 at Xq11.1. To further dissect the relationship between autism and genes implicated in XLMR, we have fine-mapped Xq11.1-q21.33 and analyzed five candidate genes in the region. We refined the region using 26 microsatellite markers and linkage analysis in 99 Finnish families with ASD. The most significant evidence for linkage was observed at DXS1225 on Xq21.1 with a nonparametric multipoint NPLall value of 3.43 (P = 0.0004). We sequenced the coding regions and splice sites of RPS6KA6 and ZNF711 residing at the peak region in 42 male patients from families contributing to the linkage. We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1-q21.33. En ligne : http://dx.doi.org/10.1002/aur.187 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127

Increased Coherence of White Matter Fiber Tract Organization in Adults with Asperger Syndrome: A Diffusion Tensor Imaging Study / Ulrika ROINE in Autism Research, 6-6 (December 2013)  

Public ISBD [article]  inAutism Research > 6-6 (December 2013) . - p.642-650 Titre : Increased Coherence of White Matter Fiber Tract Organization in Adults with Asperger Syndrome: A Diffusion Tensor Imaging Study Type de document : Texte imprimé et/ou numérique Auteurs : Ulrika ROINE, Auteur ; Timo ROINE, Auteur ; Juha SALMI, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Sami LEPPAMAKI, Auteur ; Pertti RINTAHAKA, Auteur ; Pekka TANI, Auteur ; Alexander LEEMANS, Auteur ; Mikko SAMS, Auteur Année de publication : 2013 Article en page(s) : p.642-650 Langues : Anglais (eng) Mots-clés : diffusion tensor imaging (DTI)  clinical psychiatry  neuroimaging  autism spectrum disorder Index. décimale : PER Périodiques Résumé : To investigate whether there are global white matter (WM) differences between autistic and healthy adults, we performed diffusion tensor imaging (DTI) in 14 male adults with Asperger syndrome (AS) and 19 gender-, age-, and intelligence quotient-matched controls. We focused on individuals with high-functioning autism spectrum disorder (ASD), AS, to decrease heterogeneity caused by large variation in the cognitive profile. Previous DTI studies of ASD have mainly focused on finding local changes in fractional anisotropy (FA) and mean diffusivity (MD), two indexes used to characterize microstructural properties of WM. Although the local or voxel-based approaches may be able to provide detailed information in terms of location of the observed differences, such results are known to be highly sensitive to partial volume effects, registration errors, or placement of the regions of interest. Therefore, we performed global histogram analyses of (a) whole-brain tractography results and (b) skeletonized WM masks. In addition to the FA and MD, the planar diffusion coefficient (CP) was computed as it can provide more specific information of the complexity of the neural structure. Our main finding indicated that adults with AS had higher mean FA values than controls. A less complex neural structure in adults with AS could have explained the results, but no significant difference in CP was found. Our results suggest that there are global abnormalities in the WM tissue of adults with AS. En ligne : http://dx.doi.org/10.1002/aur.1332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=221 [article] Increased Coherence of White Matter Fiber Tract Organization in Adults with Asperger Syndrome: A Diffusion Tensor Imaging Study [Texte imprimé et/ou numérique] / Ulrika ROINE, Auteur ; Timo ROINE, Auteur ; Juha SALMI, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Sami LEPPAMAKI, Auteur ; Pertti RINTAHAKA, Auteur ; Pekka TANI, Auteur ; Alexander LEEMANS, Auteur ; Mikko SAMS, Auteur . - 2013 . - p.642-650. Langues : Anglais (eng) in Autism Research > 6-6 (December 2013) . - p.642-650 Mots-clés : diffusion tensor imaging (DTI)  clinical psychiatry  neuroimaging  autism spectrum disorder Index. décimale : PER Périodiques Résumé : To investigate whether there are global white matter (WM) differences between autistic and healthy adults, we performed diffusion tensor imaging (DTI) in 14 male adults with Asperger syndrome (AS) and 19 gender-, age-, and intelligence quotient-matched controls. We focused on individuals with high-functioning autism spectrum disorder (ASD), AS, to decrease heterogeneity caused by large variation in the cognitive profile. Previous DTI studies of ASD have mainly focused on finding local changes in fractional anisotropy (FA) and mean diffusivity (MD), two indexes used to characterize microstructural properties of WM. Although the local or voxel-based approaches may be able to provide detailed information in terms of location of the observed differences, such results are known to be highly sensitive to partial volume effects, registration errors, or placement of the regions of interest. Therefore, we performed global histogram analyses of (a) whole-brain tractography results and (b) skeletonized WM masks. In addition to the FA and MD, the planar diffusion coefficient (CP) was computed as it can provide more specific information of the complexity of the neural structure. Our main finding indicated that adults with AS had higher mean FA values than controls. A less complex neural structure in adults with AS could have explained the results, but no significant difference in CP was found. Our results suggest that there are global abnormalities in the WM tissue of adults with AS. En ligne : http://dx.doi.org/10.1002/aur.1332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=221

Language Abilities of Children with Asperger Syndrome / Satu SAALASTI in Journal of Autism and Developmental Disorders, 38-8 (September 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-8 (September 2008) . - p.1574-1580 Titre : Language Abilities of Children with Asperger Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Satu SAALASTI, Auteur ; Eira JANSSON-VERKASALO, Auteur ; Lennart VON WENDT, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Tuulia LEPISTO, Auteur ; Esko TOPPILA, Auteur ; Teija KUJALA, Auteur ; Minna LAAKSO, Auteur Année de publication : 2008 Article en page(s) : p.1574-1580 Langues : Anglais (eng) Mots-clés : Asperger-syndrome Language Comprehension-of-instructions Executive-dysfunction Index. décimale : PER Périodiques Résumé : Current diagnostic taxonomies (ICD-10, DSM-IV) emphasize normal acquisition of language in Asperger syndrome (AS). Although many linguistic sub-skills may be fairly normal in AS there are also contradictory findings. There are only few studies examining language skills of children with AS in detail. The aim of this study was to study language performance in children with AS and their age, sex and IQ matched controls. Children with AS had significantly lower scores in the subtest of Comprehension of Instructions. Results showed that although many linguistic skills may develop normally, comprehension of language may be affected in children with AS. The results suggest that receptive language processes should be studied in detail in children with AS. En ligne : http://dx.doi.org/10.1007/s10803-008-0540-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=539 [article] Language Abilities of Children with Asperger Syndrome [Texte imprimé et/ou numérique] / Satu SAALASTI, Auteur ; Eira JANSSON-VERKASALO, Auteur ; Lennart VON WENDT, Auteur ; Taina NIEMINEN-VON WENDT, Auteur ; Tuulia LEPISTO, Auteur ; Esko TOPPILA, Auteur ; Teija KUJALA, Auteur ; Minna LAAKSO, Auteur . - 2008 . - p.1574-1580. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-8 (September 2008) . - p.1574-1580 Mots-clés : Asperger-syndrome Language Comprehension-of-instructions Executive-dysfunction Index. décimale : PER Périodiques Résumé : Current diagnostic taxonomies (ICD-10, DSM-IV) emphasize normal acquisition of language in Asperger syndrome (AS). Although many linguistic sub-skills may be fairly normal in AS there are also contradictory findings. There are only few studies examining language skills of children with AS in detail. The aim of this study was to study language performance in children with AS and their age, sex and IQ matched controls. Children with AS had significantly lower scores in the subtest of Comprehension of Instructions. Results showed that although many linguistic skills may develop normally, comprehension of language may be affected in children with AS. The results suggest that receptive language processes should be studied in detail in children with AS. En ligne : http://dx.doi.org/10.1007/s10803-008-0540-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=539

Sleep in Children with Asperger Syndrome / E. Juulia PAAVONEN in Journal of Autism and Developmental Disorders, 38-1 (January 2008)  

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