Brain region-specific altered expression and association of mitochondria-related genes in autism / Ayyappan ANITHA in Molecular Autism, (November 2012)  

Public ISBD [article]  inMolecular Autism > (November 2012) . - 12 p. Titre : Brain region-specific altered expression and association of mitochondria-related genes in autism Type de document : Texte imprimé et/ou numérique Auteurs : Ayyappan ANITHA, Auteur ; Kazuhiko NAKAMURA, Auteur ; Ismail THANSEEM, Auteur ; Kazuo YAMADA, Auteur ; Yoshimi IWAYAMA, Auteur ; Tomoko TOYOTA, Auteur ; Hideo MATSUZAKI, Auteur ; Taishi MIYACHI, Auteur ; Satoru YAMADA, Auteur ; Masatsugu TSUJII, Auteur ; Kenji J. TSUCHIYA, Auteur ; Kaori MATSUMOTO, Auteur ; Yasuhide IWATA, Auteur ; Katsuaki SUZUKI, Auteur ; Hironobu ICHIKAWA, Auteur ; Toshiro SUGIYAMA, Auteur ; Takeo YOSHIKAWA, Auteur ; Norio MORI, Auteur Année de publication : 2012 Article en page(s) : 12 p. Langues : Anglais (eng) Mots-clés : Autism  Mitochondria  Postmortem brain  NEFL  Uncoupling protein  Metaxin Index. décimale : PER Périodiques Résumé : BACKGROUND:Mitochondrial dysfunction (MtD) has been observed in approximately five percent of children with autism spectrum disorders (ASD). MtD could impair highly energy-dependent processes such as neurodevelopment, thereby contributing to autism. Most of the previous studies of MtD in autism have been restricted to the biomarkers of energy metabolism, while most of the genetic studies have been based on mutations in the mitochondrial DNA (mtDNA). Despite the mtDNA, most of the proteins essential for mitochondrial replication and function are encoded by the genomic DNA; so far, there have been very few studies of those genes. Therefore, we carried out a detailed study involving gene expression and genetic association studies of genes related to diverse mitochondrial functions.METHODS:For gene expression analysis, postmortem brain tissues (anterior cingulate gyrus (ACG), motor cortex (MC) and thalamus (THL)) from autism patients (n=8) and controls (n=10) were obtained from the Autism Tissue Program (Princeton, NJ, USA). Quantitative real-time PCR arrays were used to quantify the expression of 84 genes related to diverse functions of mitochondria, including biogenesis, transport, translocation and apoptosis. We used the delta delta Ct ([increment][increment]Ct) method for quantification of gene expression. DNA samples from 841 Caucasian and 188 Japanese families were used in the association study of genes selected from the gene expression analysis. FBAT was used to examine genetic association with autism.RESULTS:Several genes showed brain region-specific expression alterations in autism patients compared to controls. Metaxin 2 (MTX2), neurofilament, light polypeptide (NEFL) and solute carrier family 25, member 27 (SLC25A27) showed consistently reduced expression in the ACG, MC and THL of autism patients. NEFL (P = 0.038; Z-score 2.066) and SLC25A27 (P = 0.046; Z-score 1.990) showed genetic association with autism in Caucasian and Japanese samples, respectively. The expression of DNAJC19, DNM1L, LRPPRC, SLC25A12, SLC25A14, SLC25A24 and TOMM20 were reduced in at least two of the brain regions of autism patients.CONCLUSIONS:Our study, though preliminary, brings to light some new genes associated with MtD in autism. If MtD is detected in early stages, treatment strategies aimed at reducing its impact may be adopted. En ligne : http://dx.doi.org/10.1186/2040-2392-3-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Brain region-specific altered expression and association of mitochondria-related genes in autism [Texte imprimé et/ou numérique] / Ayyappan ANITHA, Auteur ; Kazuhiko NAKAMURA, Auteur ; Ismail THANSEEM, Auteur ; Kazuo YAMADA, Auteur ; Yoshimi IWAYAMA, Auteur ; Tomoko TOYOTA, Auteur ; Hideo MATSUZAKI, Auteur ; Taishi MIYACHI, Auteur ; Satoru YAMADA, Auteur ; Masatsugu TSUJII, Auteur ; Kenji J. TSUCHIYA, Auteur ; Kaori MATSUMOTO, Auteur ; Yasuhide IWATA, Auteur ; Katsuaki SUZUKI, Auteur ; Hironobu ICHIKAWA, Auteur ; Toshiro SUGIYAMA, Auteur ; Takeo YOSHIKAWA, Auteur ; Norio MORI, Auteur . - 2012 . - 12 p. Langues : Anglais (eng) in Molecular Autism > (November 2012) . - 12 p. Mots-clés : Autism  Mitochondria  Postmortem brain  NEFL  Uncoupling protein  Metaxin Index. décimale : PER Périodiques Résumé : BACKGROUND:Mitochondrial dysfunction (MtD) has been observed in approximately five percent of children with autism spectrum disorders (ASD). MtD could impair highly energy-dependent processes such as neurodevelopment, thereby contributing to autism. Most of the previous studies of MtD in autism have been restricted to the biomarkers of energy metabolism, while most of the genetic studies have been based on mutations in the mitochondrial DNA (mtDNA). Despite the mtDNA, most of the proteins essential for mitochondrial replication and function are encoded by the genomic DNA; so far, there have been very few studies of those genes. Therefore, we carried out a detailed study involving gene expression and genetic association studies of genes related to diverse mitochondrial functions.METHODS:For gene expression analysis, postmortem brain tissues (anterior cingulate gyrus (ACG), motor cortex (MC) and thalamus (THL)) from autism patients (n=8) and controls (n=10) were obtained from the Autism Tissue Program (Princeton, NJ, USA). Quantitative real-time PCR arrays were used to quantify the expression of 84 genes related to diverse functions of mitochondria, including biogenesis, transport, translocation and apoptosis. We used the delta delta Ct ([increment][increment]Ct) method for quantification of gene expression. DNA samples from 841 Caucasian and 188 Japanese families were used in the association study of genes selected from the gene expression analysis. FBAT was used to examine genetic association with autism.RESULTS:Several genes showed brain region-specific expression alterations in autism patients compared to controls. Metaxin 2 (MTX2), neurofilament, light polypeptide (NEFL) and solute carrier family 25, member 27 (SLC25A27) showed consistently reduced expression in the ACG, MC and THL of autism patients. NEFL (P = 0.038; Z-score 2.066) and SLC25A27 (P = 0.046; Z-score 1.990) showed genetic association with autism in Caucasian and Japanese samples, respectively. The expression of DNAJC19, DNM1L, LRPPRC, SLC25A12, SLC25A14, SLC25A24 and TOMM20 were reduced in at least two of the brain regions of autism patients.CONCLUSIONS:Our study, though preliminary, brings to light some new genes associated with MtD in autism. If MtD is detected in early stages, treatment strategies aimed at reducing its impact may be adopted. En ligne : http://dx.doi.org/10.1186/2040-2392-3-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Psychometric properties of the Repetitive Behavior Scale-Revised for individuals with autism spectrum disorder in Japan / Naoko INADA in Research in Autism Spectrum Disorders, 15-16 (July 2015)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 15-16 (July 2015) . - p.60-68 Titre : Psychometric properties of the Repetitive Behavior Scale-Revised for individuals with autism spectrum disorder in Japan Type de document : Texte imprimé et/ou numérique Auteurs : Naoko INADA, Auteur ; Hiroyuki ITO, Auteur ; Kazuhiro YASUNAGA, Auteur ; Miho KURODA, Auteur ; Ryoichiro IWANAGA, Auteur ; Taku HAGIWARA, Auteur ; Iori TANI, Auteur ; Ryoji YUKIHIRO, Auteur ; Tokio UCHIYAMA, Auteur ; Kei OGASAHARA, Auteur ; Koichi HARA, Auteur ; Masahiko INOUE, Auteur ; Takashi MURAKAMI, Auteur ; Fumio SOMEKI, Auteur ; Kazuhiko NAKAMURA, Auteur ; Toshiro SUGIYAMA, Auteur ; Hiroyuki UCHIDA, Auteur ; Hironobu ICHIKAWA, Auteur ; Yuki KAWAKUBO, Auteur ; Yukiko KANO, Auteur ; Masatsugu TSUJII, Auteur Article en page(s) : p.60-68 Langues : Anglais (eng) Mots-clés : Restricted and repetitive behaviors  Autism spectrum disorder  Repetitive Behavior Scale-Revised Japanese Version  Reliability  Validity Index. décimale : PER Périodiques Résumé : Restricted and repetitive behaviors (RRBs) constitute a core symptom of autism spectrum disorder (ASD). The Repetitive Behavior Scale-Revised (RBS-R) is a widely used questionnaire administered by parents or caregivers to assess RRBs in individuals with ASD. This study evaluated the psychometric properties of the RBS-R Japanese Version (RBS-R-J). The ASD and non-ASD groups comprised 274 and 36 participants, respectively. We examined corrected item-total correlation, Cronbach's alpha, and RBS-R-J scores of different diagnostic groups, as well as correlations between RBS-R-J scores and intelligence quotient (IQ), autistic symptoms, adaptive/maladaptive functioning, aberrant behaviors, and sensory processing. All items showed moderate corrected item-total correlations. Cronbach's alpha coefficient was .93. We found significant differences in the mean RBS-R-J scores of the low-functioning ASD group and the intellectual disabilities group, and of low-functioning and high-functioning ASD groups. RBS-R-J scores negatively correlated with IQ and scores on the Sensory Profile (Japanese version) and Adaptive Behavior Composite of the Maladaptive Behavior Index of the Vineland Adaptive Behavior Scales-Second Edition (VABS-II; Japanese version), but positively correlated with scores on the peak and current symptoms subscales of the Pervasive Developmental Disorders Autism Society Japan Rating Scale, the VABS-II, and the Aberrant Behavior Checklist-Community (Japanese version). From these results, we conclude that RBS-R-J showed good reliability, diagnostic validity, and convergent validity, indicating that it is a reliable, valid instrument for use among ASD individuals in clinical and research settings. En ligne : http://dx.doi.org/10.1016/j.rasd.2015.01.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=261 [article] Psychometric properties of the Repetitive Behavior Scale-Revised for individuals with autism spectrum disorder in Japan [Texte imprimé et/ou numérique] / Naoko INADA, Auteur ; Hiroyuki ITO, Auteur ; Kazuhiro YASUNAGA, Auteur ; Miho KURODA, Auteur ; Ryoichiro IWANAGA, Auteur ; Taku HAGIWARA, Auteur ; Iori TANI, Auteur ; Ryoji YUKIHIRO, Auteur ; Tokio UCHIYAMA, Auteur ; Kei OGASAHARA, Auteur ; Koichi HARA, Auteur ; Masahiko INOUE, Auteur ; Takashi MURAKAMI, Auteur ; Fumio SOMEKI, Auteur ; Kazuhiko NAKAMURA, Auteur ; Toshiro SUGIYAMA, Auteur ; Hiroyuki UCHIDA, Auteur ; Hironobu ICHIKAWA, Auteur ; Yuki KAWAKUBO, Auteur ; Yukiko KANO, Auteur ; Masatsugu TSUJII, Auteur . - p.60-68. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 15-16 (July 2015) . - p.60-68 Mots-clés : Restricted and repetitive behaviors  Autism spectrum disorder  Repetitive Behavior Scale-Revised Japanese Version  Reliability  Validity Index. décimale : PER Périodiques Résumé : Restricted and repetitive behaviors (RRBs) constitute a core symptom of autism spectrum disorder (ASD). The Repetitive Behavior Scale-Revised (RBS-R) is a widely used questionnaire administered by parents or caregivers to assess RRBs in individuals with ASD. This study evaluated the psychometric properties of the RBS-R Japanese Version (RBS-R-J). The ASD and non-ASD groups comprised 274 and 36 participants, respectively. We examined corrected item-total correlation, Cronbach's alpha, and RBS-R-J scores of different diagnostic groups, as well as correlations between RBS-R-J scores and intelligence quotient (IQ), autistic symptoms, adaptive/maladaptive functioning, aberrant behaviors, and sensory processing. All items showed moderate corrected item-total correlations. Cronbach's alpha coefficient was .93. We found significant differences in the mean RBS-R-J scores of the low-functioning ASD group and the intellectual disabilities group, and of low-functioning and high-functioning ASD groups. RBS-R-J scores negatively correlated with IQ and scores on the Sensory Profile (Japanese version) and Adaptive Behavior Composite of the Maladaptive Behavior Index of the Vineland Adaptive Behavior Scales-Second Edition (VABS-II; Japanese version), but positively correlated with scores on the peak and current symptoms subscales of the Pervasive Developmental Disorders Autism Society Japan Rating Scale, the VABS-II, and the Aberrant Behavior Checklist-Community (Japanese version). From these results, we conclude that RBS-R-J showed good reliability, diagnostic validity, and convergent validity, indicating that it is a reliable, valid instrument for use among ASD individuals in clinical and research settings. En ligne : http://dx.doi.org/10.1016/j.rasd.2015.01.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=261

Reliability and Validity of Autism Diagnostic Interview-Revised, Japanese Version / Kenji J. TSUCHIYA in Journal of Autism and Developmental Disorders, 43-3 (March 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.643-662 Titre : Reliability and Validity of Autism Diagnostic Interview-Revised, Japanese Version Type de document : Texte imprimé et/ou numérique Auteurs : Kenji J. TSUCHIYA, Auteur ; Kaori MATSUMOTO, Auteur ; Atsuko YAGI, Auteur ; Naoko INADA, Auteur ; Miho KURODA, Auteur ; Eiko INOKUCHI, Auteur ; Tomonori KOYAMA, Auteur ; Yoko KAMIO, Auteur ; Masatsugu TSUJII, Auteur ; Saeko SAKAI, Auteur ; Ikuko MOHRI, Auteur ; Masako TANIIKE, Auteur ; Ryoichiro IWANAGA, Auteur ; Kei OGASAHARA, Auteur ; Taishi MIYACHI, Auteur ; Shunji NAKAJIMA, Auteur ; Iori TANI, Auteur ; Masafumi OHNISHI, Auteur ; Masahiko INOUE, Auteur ; Kazuyo NOMURA, Auteur ; Taku HAGIWARA, Auteur ; Tokio UCHIYAMA, Auteur ; Hironobu ICHIKAWA, Auteur ; Shuji KOBAYASHI, Auteur ; Ken MIYAMOTO, Auteur ; Kazuhiko NAKAMURA, Auteur ; Katsuaki SUZUKI, Auteur ; Norio MORI, Auteur ; Nori TAKEI, Auteur Article en page(s) : p.643-662 Langues : Anglais (eng) Mots-clés : Autism  ADI-R  Reliability  Validity  Japan Index. décimale : PER Périodiques Résumé : To examine the inter-rater reliability of Autism Diagnostic Interview-Revised, Japanese Version (ADI-R-JV), the authors recruited 51 individuals aged 3–19 years, interviewed by two independent raters. Subsequently, to assess the discriminant and diagnostic validity of ADI-R-JV, the authors investigated 317 individuals aged 2–19 years, who were divided into three diagnostic groups as follows: autistic disorder (AD), pervasive developmental disorder not otherwise specified, and other psychiatric diagnosis or no diagnosis, according to the consensus clinical diagnosis. As regards inter-rater reliability, intraclass correlation coefficients of greater than 0.80 were obtained for all three domains of ADI-R-JV. As regards discriminant validity, the mean scores of the three domains was significantly higher in individuals with AD than in those of other diagnostic groups. As regards diagnostic validity, sensitivity and specificity for correctly diagnosing AD were 0.92 and 0.89, respectively, but sensitivity was 0.55 for individuals younger than 5 years. Specificity was consistently high regardless of age and intelligence. ADI-R-JV was shown to be a reliable tool, and has sufficient discriminant validity and satisfactory diagnostic validity for correctly diagnosing AD, although the diagnostic validity appeared to be compromised with respect to the diagnosis of younger individuals. En ligne : http://dx.doi.org/10.1007/s10803-012-1606-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] Reliability and Validity of Autism Diagnostic Interview-Revised, Japanese Version [Texte imprimé et/ou numérique] / Kenji J. TSUCHIYA, Auteur ; Kaori MATSUMOTO, Auteur ; Atsuko YAGI, Auteur ; Naoko INADA, Auteur ; Miho KURODA, Auteur ; Eiko INOKUCHI, Auteur ; Tomonori KOYAMA, Auteur ; Yoko KAMIO, Auteur ; Masatsugu TSUJII, Auteur ; Saeko SAKAI, Auteur ; Ikuko MOHRI, Auteur ; Masako TANIIKE, Auteur ; Ryoichiro IWANAGA, Auteur ; Kei OGASAHARA, Auteur ; Taishi MIYACHI, Auteur ; Shunji NAKAJIMA, Auteur ; Iori TANI, Auteur ; Masafumi OHNISHI, Auteur ; Masahiko INOUE, Auteur ; Kazuyo NOMURA, Auteur ; Taku HAGIWARA, Auteur ; Tokio UCHIYAMA, Auteur ; Hironobu ICHIKAWA, Auteur ; Shuji KOBAYASHI, Auteur ; Ken MIYAMOTO, Auteur ; Kazuhiko NAKAMURA, Auteur ; Katsuaki SUZUKI, Auteur ; Norio MORI, Auteur ; Nori TAKEI, Auteur . - p.643-662. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.643-662 Mots-clés : Autism  ADI-R  Reliability  Validity  Japan Index. décimale : PER Périodiques Résumé : To examine the inter-rater reliability of Autism Diagnostic Interview-Revised, Japanese Version (ADI-R-JV), the authors recruited 51 individuals aged 3–19 years, interviewed by two independent raters. Subsequently, to assess the discriminant and diagnostic validity of ADI-R-JV, the authors investigated 317 individuals aged 2–19 years, who were divided into three diagnostic groups as follows: autistic disorder (AD), pervasive developmental disorder not otherwise specified, and other psychiatric diagnosis or no diagnosis, according to the consensus clinical diagnosis. As regards inter-rater reliability, intraclass correlation coefficients of greater than 0.80 were obtained for all three domains of ADI-R-JV. As regards discriminant validity, the mean scores of the three domains was significantly higher in individuals with AD than in those of other diagnostic groups. As regards diagnostic validity, sensitivity and specificity for correctly diagnosing AD were 0.92 and 0.89, respectively, but sensitivity was 0.55 for individuals younger than 5 years. Specificity was consistently high regardless of age and intelligence. ADI-R-JV was shown to be a reliable tool, and has sufficient discriminant validity and satisfactory diagnostic validity for correctly diagnosing AD, although the diagnostic validity appeared to be compromised with respect to the diagnosis of younger individuals. En ligne : http://dx.doi.org/10.1007/s10803-012-1606-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192

Validation of an interview-based rating scale developed in Japan for pervasive developmental disorders / Hiroyuki ITO in Research in Autism Spectrum Disorders, 6-4 (October-December 2012)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 6-4 (October-December 2012) . - p.1265-1272 Titre : Validation of an interview-based rating scale developed in Japan for pervasive developmental disorders Type de document : Texte imprimé et/ou numérique Auteurs : Hiroyuki ITO, Auteur ; Iori TANI, Auteur ; Ryoji YUKIHIRO, Auteur ; Jun ADACHI, Auteur ; Koichi HARA, Auteur ; Megumi OGASAWARA, Auteur ; Masahiko INOUE, Auteur ; Yoko KAMIO, Auteur ; Kazuhiko NAKAMURA, Auteur ; Tokio UCHIYAMA, Auteur ; Hironobu ICHIKAWA, Auteur ; Toshiro SUGIYAMA, Auteur ; Taku HAGIWARA, Auteur ; Masatsugu TSUJII, Auteur Année de publication : 2012 Article en page(s) : p.1265-1272 Langues : Anglais (eng) Mots-clés : PDD  Autism spectrum disorders: ADI-R  Psychometrics Index. décimale : PER Périodiques Résumé : The pervasive developmental disorders (PDDs) Autism Society Japan Rating Scale (PARS), an interview-based instrument for evaluating PDDs, has been developed in Japan with the aim of providing a method that (1) can be used to evaluate PDD symptoms and related support needs and (2) is simpler and easier than the currently used “gold standard” instruments such as the Autism Diagnostic Interview-Revised (ADI-R). We examined the reliability and validity of PARS on the basis of data from 572 participants (277 PDD patients and 295 nonclinical controls). Inter-rater reliability was sufficient at both the item and scale level. Factor analysis extracted four subscales, for which internal consistency was found to be high. The sub and total scores of PARS showed correlations with the domain and total scores of ADI-R, in line with theoretical prediction, indicating the convergent validity of PARS. A receiver operating characteristic analysis showed that PARS has good discriminative validity in differentiating between PDD patients and nonclinical controls, regardless of intellectual capacity. Considering that PARS can be easily implemented by professionals with appropriate knowledge regarding PDDs, PARS may be superior to the existing instruments in terms of cost performance. En ligne : http://dx.doi.org/10.1016/j.rasd.2012.04.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=165 [article] Validation of an interview-based rating scale developed in Japan for pervasive developmental disorders [Texte imprimé et/ou numérique] / Hiroyuki ITO, Auteur ; Iori TANI, Auteur ; Ryoji YUKIHIRO, Auteur ; Jun ADACHI, Auteur ; Koichi HARA, Auteur ; Megumi OGASAWARA, Auteur ; Masahiko INOUE, Auteur ; Yoko KAMIO, Auteur ; Kazuhiko NAKAMURA, Auteur ; Tokio UCHIYAMA, Auteur ; Hironobu ICHIKAWA, Auteur ; Toshiro SUGIYAMA, Auteur ; Taku HAGIWARA, Auteur ; Masatsugu TSUJII, Auteur . - 2012 . - p.1265-1272. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 6-4 (October-December 2012) . - p.1265-1272 Mots-clés : PDD  Autism spectrum disorders: ADI-R  Psychometrics Index. décimale : PER Périodiques Résumé : The pervasive developmental disorders (PDDs) Autism Society Japan Rating Scale (PARS), an interview-based instrument for evaluating PDDs, has been developed in Japan with the aim of providing a method that (1) can be used to evaluate PDD symptoms and related support needs and (2) is simpler and easier than the currently used “gold standard” instruments such as the Autism Diagnostic Interview-Revised (ADI-R). We examined the reliability and validity of PARS on the basis of data from 572 participants (277 PDD patients and 295 nonclinical controls). Inter-rater reliability was sufficient at both the item and scale level. Factor analysis extracted four subscales, for which internal consistency was found to be high. The sub and total scores of PARS showed correlations with the domain and total scores of ADI-R, in line with theoretical prediction, indicating the convergent validity of PARS. A receiver operating characteristic analysis showed that PARS has good discriminative validity in differentiating between PDD patients and nonclinical controls, regardless of intellectual capacity. Considering that PARS can be easily implemented by professionals with appropriate knowledge regarding PDDs, PARS may be superior to the existing instruments in terms of cost performance. En ligne : http://dx.doi.org/10.1016/j.rasd.2012.04.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=165

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