Autistic Disorder: A 20 Year Chronicle / Cindy SKINNER in Journal of Autism and Developmental Disorders, 51-2 (February 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-2 (February 2021) . - p.677-684 Titre : Autistic Disorder: A 20 Year Chronicle Type de document : Texte imprimé et/ou numérique Auteurs : Cindy SKINNER, Auteur ; Rini PAULY, Auteur ; Steve A. SKINNER, Auteur ; Richard J. SCHROER, Auteur ; Richard J. SIMENSEN, Auteur ; Harold A. TAYLOR, Auteur ; Michael J. FRIEZ, Auteur ; Barbara R. DUPONT, Auteur ; Roger E. STEVENSON, Auteur Article en page(s) : p.677-684 Langues : Anglais (eng) Mots-clés : Autism  Autistic disorder  Diagnostic and statistical manual  Genetics  Long term outcome Index. décimale : PER Périodiques Résumé : The course of 187 individuals ages 3-21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995-1998, follow up: 2014-2019). Specific genetic and environmental causes were identified in only a minority. Intellectual disability coexisted in 84%. Few became independent with 99% living at home with relatives, in disability group homes or in residential facilities. Seven individuals (3.7%) attained postsecondary education, two receiving baccalaureate degrees, two receiving associate degrees, and three receiving certificates from college disability programs. It may be anticipated that the long term outcome for individuals currently diagnosed with Autism Spectrum Disorder (ASD) will be substantially better than for individuals with Autistic Disorder in this cohort. En ligne : http://dx.doi.org/10.1007/s10803-020-04568-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440 [article] Autistic Disorder: A 20 Year Chronicle [Texte imprimé et/ou numérique] / Cindy SKINNER, Auteur ; Rini PAULY, Auteur ; Steve A. SKINNER, Auteur ; Richard J. SCHROER, Auteur ; Richard J. SIMENSEN, Auteur ; Harold A. TAYLOR, Auteur ; Michael J. FRIEZ, Auteur ; Barbara R. DUPONT, Auteur ; Roger E. STEVENSON, Auteur . - p.677-684. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-2 (February 2021) . - p.677-684 Mots-clés : Autism  Autistic disorder  Diagnostic and statistical manual  Genetics  Long term outcome Index. décimale : PER Périodiques Résumé : The course of 187 individuals ages 3-21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995-1998, follow up: 2014-2019). Specific genetic and environmental causes were identified in only a minority. Intellectual disability coexisted in 84%. Few became independent with 99% living at home with relatives, in disability group homes or in residential facilities. Seven individuals (3.7%) attained postsecondary education, two receiving baccalaureate degrees, two receiving associate degrees, and three receiving certificates from college disability programs. It may be anticipated that the long term outcome for individuals currently diagnosed with Autism Spectrum Disorder (ASD) will be substantially better than for individuals with Autistic Disorder in this cohort. En ligne : http://dx.doi.org/10.1007/s10803-020-04568-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440

Decreased tryptophan metabolism in patients with autism spectrum disorders / Luigi BOCCUTO in Molecular Autism, (June 2013)  

Public ISBD [article]  inMolecular Autism > (June 2013) . - 10 p. Titre : Decreased tryptophan metabolism in patients with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Luigi BOCCUTO, Auteur ; Chin-Fu CHEN, Auteur ; Ayla PITTMAN, Auteur ; Cindy SKINNER, Auteur ; Heather MCCARTNEY, Auteur ; Kelly JONES, Auteur ; Barry BOCHNER, Auteur ; Roger STEVENSON, Auteur ; Charles E. SCHWARTZ, Auteur Année de publication : 2013 Article en page(s) : 10 p. Langues : Anglais (eng) Mots-clés : Autism  Biomarker  Tryptophan  Metabolism  Screening Index. décimale : PER Périodiques Résumé : BACKGROUND:Autism spectrum disorders (ASDs) are relatively common neurodevelopmental conditions whose biological basis has been incompletely determined. Several biochemical markers have been associated with ASDs, but there is still no laboratory test for these conditions.METHODS:We analyzed the metabolic profile of lymphoblastoid cell lines from 137 patients with neurodevelopmental disorders with or without ASDs and 78 normal individuals, using Biolog Phenotype MicroArrays.RESULTS:Metabolic profiling of lymphoblastoid cells revealed that the 87 patients with ASD as a clinical feature, as compared to the 78 controls, exhibited on average reduced generation of NADH when tryptophan was the sole energy source. The results correlated with the behavioral traits associated with either syndromal or non-syndromal autism, independent of the genetic background of the individual. The low level of NADH generation in the presence of tryptophan was not observed in cell lines from non-ASD patients with intellectual disability, schizophrenia or conditions exhibiting several similarities with syndromal autism except for the behavioral traits. Analysis of a previous small gene expression study found abnormal levels for some genes involved in tryptophan metabolic pathways in 10 patients.CONCLUSIONS:Tryptophan is a precursor of important compounds, such as serotonin, quinolinic acid, and kynurenic acid, which are involved in neurodevelopment and synaptogenesis. In addition, quinolinic acid is the structural precursor of NAD+, a critical energy carrier in mitochondria. Also, the serotonin branch of the tryptophan metabolic pathway generates NADH. Lastly, the levels of quinolinic and kynurenic acid are strongly influenced by the activity of the immune system. Therefore, decreased tryptophan metabolism may alter brain development, neuroimmune activity and mitochondrial function. Our finding of decreased tryptophan metabolism appears to provide a unifying biochemical basis for ASDs and perhaps an initial step in the development of a diagnostic assay for ASDs. En ligne : http://dx.doi.org/10.1186/2040-2392-4-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Decreased tryptophan metabolism in patients with autism spectrum disorders [Texte imprimé et/ou numérique] / Luigi BOCCUTO, Auteur ; Chin-Fu CHEN, Auteur ; Ayla PITTMAN, Auteur ; Cindy SKINNER, Auteur ; Heather MCCARTNEY, Auteur ; Kelly JONES, Auteur ; Barry BOCHNER, Auteur ; Roger STEVENSON, Auteur ; Charles E. SCHWARTZ, Auteur . - 2013 . - 10 p. Langues : Anglais (eng) in Molecular Autism > (June 2013) . - 10 p. Mots-clés : Autism  Biomarker  Tryptophan  Metabolism  Screening Index. décimale : PER Périodiques Résumé : BACKGROUND:Autism spectrum disorders (ASDs) are relatively common neurodevelopmental conditions whose biological basis has been incompletely determined. Several biochemical markers have been associated with ASDs, but there is still no laboratory test for these conditions.METHODS:We analyzed the metabolic profile of lymphoblastoid cell lines from 137 patients with neurodevelopmental disorders with or without ASDs and 78 normal individuals, using Biolog Phenotype MicroArrays.RESULTS:Metabolic profiling of lymphoblastoid cells revealed that the 87 patients with ASD as a clinical feature, as compared to the 78 controls, exhibited on average reduced generation of NADH when tryptophan was the sole energy source. The results correlated with the behavioral traits associated with either syndromal or non-syndromal autism, independent of the genetic background of the individual. The low level of NADH generation in the presence of tryptophan was not observed in cell lines from non-ASD patients with intellectual disability, schizophrenia or conditions exhibiting several similarities with syndromal autism except for the behavioral traits. Analysis of a previous small gene expression study found abnormal levels for some genes involved in tryptophan metabolic pathways in 10 patients.CONCLUSIONS:Tryptophan is a precursor of important compounds, such as serotonin, quinolinic acid, and kynurenic acid, which are involved in neurodevelopment and synaptogenesis. In addition, quinolinic acid is the structural precursor of NAD+, a critical energy carrier in mitochondria. Also, the serotonin branch of the tryptophan metabolic pathway generates NADH. Lastly, the levels of quinolinic and kynurenic acid are strongly influenced by the activity of the immune system. Therefore, decreased tryptophan metabolism may alter brain development, neuroimmune activity and mitochondrial function. Our finding of decreased tryptophan metabolism appears to provide a unifying biochemical basis for ASDs and perhaps an initial step in the development of a diagnostic assay for ASDs. En ligne : http://dx.doi.org/10.1186/2040-2392-4-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder / Rini PAULY in Research in Autism Spectrum Disorders, 85 (July 2021)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 85 (July 2021) . - 101790 Titre : Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Rini PAULY, Auteur ; Lauren CASCIO, Auteur ; Sujata SRIKANTH, Auteur ; Kelly JONES, Auteur ; Skylar SORROW, Auteur ; Rossana CUBILLAN, Auteur ; Chin-Fu CHEN, Auteur ; Cindy SKINNER, Auteur ; Kevin CHAMPAIGNE, Auteur ; Roger E. STEVENSON, Auteur ; Charles E. SCHWARTZ, Auteur ; Luigi BOCCUTO, Auteur Article en page(s) : 101790 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Tryptophan  Metabolism  Diagnostic test  Screening test Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a common neurodevelopmental condition with a tremendous impact on society and families. The biological basis of ASD has yet to be completely understood and there are no laboratory tests for this condition. Phenotype Mammalian Microarrays (PM-Ms) can distinguish patients with ASD from typically developing (TD) individuals by differential utilization of the amino acid tryptophan. By assessing several parameters of the assay utilizing customized tryptophan-containing PM-M plates, we improved the discrimination of the test, optimized test parameters, and minimized background noise by normalization while controlling for false discoveries. This improved platform can provide the first cell-based metabolic test to validate the clinical diagnosis of ASD and possibly identify individuals at risk even before the occurrence of neuro-behavioral symptoms. En ligne : https://doi.org/10.1016/j.rasd.2021.101790 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=458 [article] Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder [Texte imprimé et/ou numérique] / Rini PAULY, Auteur ; Lauren CASCIO, Auteur ; Sujata SRIKANTH, Auteur ; Kelly JONES, Auteur ; Skylar SORROW, Auteur ; Rossana CUBILLAN, Auteur ; Chin-Fu CHEN, Auteur ; Cindy SKINNER, Auteur ; Kevin CHAMPAIGNE, Auteur ; Roger E. STEVENSON, Auteur ; Charles E. SCHWARTZ, Auteur ; Luigi BOCCUTO, Auteur . - 101790. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 85 (July 2021) . - 101790 Mots-clés : Autism spectrum disorder (ASD)  Tryptophan  Metabolism  Diagnostic test  Screening test Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a common neurodevelopmental condition with a tremendous impact on society and families. The biological basis of ASD has yet to be completely understood and there are no laboratory tests for this condition. Phenotype Mammalian Microarrays (PM-Ms) can distinguish patients with ASD from typically developing (TD) individuals by differential utilization of the amino acid tryptophan. By assessing several parameters of the assay utilizing customized tryptophan-containing PM-M plates, we improved the discrimination of the test, optimized test parameters, and minimized background noise by normalization while controlling for false discoveries. This improved platform can provide the first cell-based metabolic test to validate the clinical diagnosis of ASD and possibly identify individuals at risk even before the occurrence of neuro-behavioral symptoms. En ligne : https://doi.org/10.1016/j.rasd.2021.101790 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=458

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder / Pamela B. JACKSON in Autism Research, 2-4 (August 2009)  

Public ISBD [article]  inAutism Research > 2-4 (August 2009) . - p.232-236 Titre : Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder Type de document : Texte imprimé et/ou numérique Auteurs : Pamela B. JACKSON, Auteur ; Luigi BOCCUTO, Auteur ; Cindy SKINNER, Auteur ; Julianne S. COLLINS, Auteur ; Giovanni NERI, Auteur ; Fiorella GURRIERI, Auteur ; Charles E. SCHWARTZ, Auteur Année de publication : 2009 Article en page(s) : p.232-236 Langues : Anglais (eng) Mots-clés : autism autistic-disorder MET PDD PDD-NOS Index. décimale : PER Périodiques Résumé : Previous studies in three independent cohorts have shown that the rs1858830 C allele variant in the promoter region of the MET gene on chromosome 7q31 is associated with autism. Another study has found correlations between other alterations in the MET gene and autism in two unrelated cohorts. This study screened two cohorts, an Autistic Disorder cohort from South Carolina and a Pervasive Developmental Disorder (PDD) cohort from Italy, for the presence of the C allele variant in rs1858830. A significant increase in the C allele variant frequency was found in the South Carolina Autistic Disorder patients as compared to South Carolina Controls (2=5.8, df=1, P=0.02). In the South Carolina cohort, a significant association with Autistic Disorder was found when comparing the CC and CG genotypes to the GG genotype (odds ratio (OR)=1.64; 95% confidence interval (CI)=1.12-2.40; 2=6.5, df=1, P=0.01) in cases and controls. In the Italian cohort, no significant association with PDD was found when comparing the CC or CG genotype to the GG genotype (OR=1.20; 95% CI=0.56-2.56; 2=0.2, df=1, P=0.64). This study is the third independent study to find the rs1858830 C variant in the MET gene promoter to be associated with autism. En ligne : http://dx.doi.org/10.1002/aur.87 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=938 [article] Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder [Texte imprimé et/ou numérique] / Pamela B. JACKSON, Auteur ; Luigi BOCCUTO, Auteur ; Cindy SKINNER, Auteur ; Julianne S. COLLINS, Auteur ; Giovanni NERI, Auteur ; Fiorella GURRIERI, Auteur ; Charles E. SCHWARTZ, Auteur . - 2009 . - p.232-236. Langues : Anglais (eng) in Autism Research > 2-4 (August 2009) . - p.232-236 Mots-clés : autism autistic-disorder MET PDD PDD-NOS Index. décimale : PER Périodiques Résumé : Previous studies in three independent cohorts have shown that the rs1858830 C allele variant in the promoter region of the MET gene on chromosome 7q31 is associated with autism. Another study has found correlations between other alterations in the MET gene and autism in two unrelated cohorts. This study screened two cohorts, an Autistic Disorder cohort from South Carolina and a Pervasive Developmental Disorder (PDD) cohort from Italy, for the presence of the C allele variant in rs1858830. A significant increase in the C allele variant frequency was found in the South Carolina Autistic Disorder patients as compared to South Carolina Controls (2=5.8, df=1, P=0.02). In the South Carolina cohort, a significant association with Autistic Disorder was found when comparing the CC and CG genotypes to the GG genotype (odds ratio (OR)=1.64; 95% confidence interval (CI)=1.12-2.40; 2=6.5, df=1, P=0.01) in cases and controls. In the Italian cohort, no significant association with PDD was found when comparing the CC or CG genotype to the GG genotype (OR=1.20; 95% CI=0.56-2.56; 2=0.2, df=1, P=0.64). This study is the third independent study to find the rs1858830 C variant in the MET gene promoter to be associated with autism. En ligne : http://dx.doi.org/10.1002/aur.87 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=938

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