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

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

Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study / Allison R. HICKMAN in Journal of Autism and Developmental Disorders, 53-9 (September 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-9 (September 2023) . - p.3595-3612 Titre : Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study Type de document : Texte imprimé et/ou numérique Auteurs : Allison R. HICKMAN, Auteur ; Bradley SELEE, Auteur ; Rini PAULY, Auteur ; Benafsh HUSAIN, Auteur ; Yuqing HANG, Auteur ; Frank Alex FELTUS, Auteur Article en page(s) : p.3595-3612 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with significantly different allele distributions between ASD-affected and control. Thirty significant DNA variants associated with 174 tissue-specific eQTLs from ASD individuals in the SPARK project were identified. Several significant variants fell within brain-specific regulatory regions or had been associated with a significant change in gene expression in the brain. These eQTLs are a new class of biomarkers that could control the myriad of brain and non-brain phenotypic traits seen in ASD-affected individuals. En ligne : https://doi.org/10.1007/s10803-022-05631-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=511 [article] Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study [Texte imprimé et/ou numérique] / Allison R. HICKMAN, Auteur ; Bradley SELEE, Auteur ; Rini PAULY, Auteur ; Benafsh HUSAIN, Auteur ; Yuqing HANG, Auteur ; Frank Alex FELTUS, Auteur . - p.3595-3612. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-9 (September 2023) . - p.3595-3612 Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with significantly different allele distributions between ASD-affected and control. Thirty significant DNA variants associated with 174 tissue-specific eQTLs from ASD individuals in the SPARK project were identified. Several significant variants fell within brain-specific regulatory regions or had been associated with a significant change in gene expression in the brain. These eQTLs are a new class of biomarkers that could control the myriad of brain and non-brain phenotypic traits seen in ASD-affected individuals. En ligne : https://doi.org/10.1007/s10803-022-05631-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=511

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