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The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders: A hypothesis paper / Christopher GILLBERG in Autism Research, 10-6 (June 2017)
[article]
Titre : The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders: A hypothesis paper Type de document : Texte imprimé et/ou numérique Auteurs : Christopher GILLBERG, Auteur ; Elisabeth FERNELL, Auteur ; Eva KOCOVSKA, Auteur ; Helen MINNIS, Auteur ; Thomas BOURGERON, Auteur ; Lucy THOMPSON, Auteur ; Clare S. ALLELY, Auteur Article en page(s) : p.1022-1044 Langues : Anglais (eng) Mots-clés : autism cholesterol cortisol estrogens steroid hormones testosterone vitamin D Index. décimale : PER Périodiques Résumé : Based on evidence from the relevant research literature, we present a hypothesis that there may be a link between cholesterol, vitamin D, and steroid hormones which subsequently impacts on the development of at least some of the “autisms” [Coleman & Gillberg]. Our hypothesis, driven by the peer reviewed literature, posits that there may be links between cholesterol metabolism, which we will refer to as “steroid metabolism” and findings of steroid abnormalities of various kinds (cortisol, testosterone, estrogens, progesterone, vitamin D) in autism spectrum disorder (ASD). Further research investigating these potential links is warranted to further our understanding of the biological mechanisms underlying ASD. En ligne : http://dx.doi.org/10.1002/aur.1777 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=309
in Autism Research > 10-6 (June 2017) . - p.1022-1044[article] The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders: A hypothesis paper [Texte imprimé et/ou numérique] / Christopher GILLBERG, Auteur ; Elisabeth FERNELL, Auteur ; Eva KOCOVSKA, Auteur ; Helen MINNIS, Auteur ; Thomas BOURGERON, Auteur ; Lucy THOMPSON, Auteur ; Clare S. ALLELY, Auteur . - p.1022-1044.
Langues : Anglais (eng)
in Autism Research > 10-6 (June 2017) . - p.1022-1044
Mots-clés : autism cholesterol cortisol estrogens steroid hormones testosterone vitamin D Index. décimale : PER Périodiques Résumé : Based on evidence from the relevant research literature, we present a hypothesis that there may be a link between cholesterol, vitamin D, and steroid hormones which subsequently impacts on the development of at least some of the “autisms” [Coleman & Gillberg]. Our hypothesis, driven by the peer reviewed literature, posits that there may be links between cholesterol metabolism, which we will refer to as “steroid metabolism” and findings of steroid abnormalities of various kinds (cortisol, testosterone, estrogens, progesterone, vitamin D) in autism spectrum disorder (ASD). Further research investigating these potential links is warranted to further our understanding of the biological mechanisms underlying ASD. En ligne : http://dx.doi.org/10.1002/aur.1777 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=309 Untargeted Metabolomics Screen of Mid-pregnancy Maternal Serum and Autism in Offspring / Beate RITZ in Autism Research, 13-8 (August 2020)
[article]
Titre : Untargeted Metabolomics Screen of Mid-pregnancy Maternal Serum and Autism in Offspring Type de document : Texte imprimé et/ou numérique Auteurs : Beate RITZ, Auteur ; Qi YAN, Auteur ; Karan UPPAL, Auteur ; Zeyan LIEW, Auteur ; Xin CUI, Auteur ; Chenxiao LING, Auteur ; Kosuke INOUE, Auteur ; Ondine VON EHRENSTEIN, Auteur ; Douglas I. WALKER, Auteur ; Dean P. JONES, Auteur Article en page(s) : p.1258-1269 Langues : Anglais (eng) Mots-clés : autism high-resolution metabolomics mid-pregnancy serum steroid hormones Index. décimale : PER Périodiques Résumé : Discovering pathophysiologic networks in a blood-based approach may help to generate valuable tools for early treatment or preventive measures in autism. To date targeted or untargeted metabolomics approaches to identify metabolic features and pathways affecting fetal neurodevelopment have rarely been applied to pregnancy samples, that is, an early period potentially relevant for the development of autism spectrum disorders (ASD). We conducted a population-based study relying on autism diagnoses retrieved from California Department of Developmental Services record. After linking cases to and sampling controls from birth certificates, we retrieved stored maternal mid-pregnancy serum samples collected as part of the California Prenatal Screening Program from the California Biobank for children born 2004 to 2010 in the central valley of California. We retrieved serum for 52 mothers whose children developed autism and 62 population controls originally selected from all eligible children matched by birth year and child's sex. Also, we required that these mothers were relatively low or unexposed to air pollution and select pesticides during early pregnancy. We identified differences in metabolite levels in several metabolic pathways, including glycosphingolipid biosynthesis and metabolism, N-glycan and pyrimidine metabolism, bile acid pathways and, importantly, C21-steroid hormone biosynthesis and metabolism. Disturbances in these pathways have been shown to be relevant for neurodevelopment in rare genetic syndromes or implicated in previous studies of autism. This study provides new insight into maternal mid-pregnancy metabolic features possibly related to the development of autism and an incentive to explore whether these pathways and metabolites are useful for early diagnosis, treatment, or prevention. LAY SUMMARY: This study found that in mid-pregnancy the blood of mothers who give birth to a child that develops autism has some characteristic features that are different from those of blood samples taken from control mothers. These features are related to biologic mechanisms that can affect fetal brain development. In the future, these insights may help identify biomarkers for early autism diagnosis and treatment or preventive measures. Autism Res 2020, 13: 1258-1269. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2311 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430
in Autism Research > 13-8 (August 2020) . - p.1258-1269[article] Untargeted Metabolomics Screen of Mid-pregnancy Maternal Serum and Autism in Offspring [Texte imprimé et/ou numérique] / Beate RITZ, Auteur ; Qi YAN, Auteur ; Karan UPPAL, Auteur ; Zeyan LIEW, Auteur ; Xin CUI, Auteur ; Chenxiao LING, Auteur ; Kosuke INOUE, Auteur ; Ondine VON EHRENSTEIN, Auteur ; Douglas I. WALKER, Auteur ; Dean P. JONES, Auteur . - p.1258-1269.
Langues : Anglais (eng)
in Autism Research > 13-8 (August 2020) . - p.1258-1269
Mots-clés : autism high-resolution metabolomics mid-pregnancy serum steroid hormones Index. décimale : PER Périodiques Résumé : Discovering pathophysiologic networks in a blood-based approach may help to generate valuable tools for early treatment or preventive measures in autism. To date targeted or untargeted metabolomics approaches to identify metabolic features and pathways affecting fetal neurodevelopment have rarely been applied to pregnancy samples, that is, an early period potentially relevant for the development of autism spectrum disorders (ASD). We conducted a population-based study relying on autism diagnoses retrieved from California Department of Developmental Services record. After linking cases to and sampling controls from birth certificates, we retrieved stored maternal mid-pregnancy serum samples collected as part of the California Prenatal Screening Program from the California Biobank for children born 2004 to 2010 in the central valley of California. We retrieved serum for 52 mothers whose children developed autism and 62 population controls originally selected from all eligible children matched by birth year and child's sex. Also, we required that these mothers were relatively low or unexposed to air pollution and select pesticides during early pregnancy. We identified differences in metabolite levels in several metabolic pathways, including glycosphingolipid biosynthesis and metabolism, N-glycan and pyrimidine metabolism, bile acid pathways and, importantly, C21-steroid hormone biosynthesis and metabolism. Disturbances in these pathways have been shown to be relevant for neurodevelopment in rare genetic syndromes or implicated in previous studies of autism. This study provides new insight into maternal mid-pregnancy metabolic features possibly related to the development of autism and an incentive to explore whether these pathways and metabolites are useful for early diagnosis, treatment, or prevention. LAY SUMMARY: This study found that in mid-pregnancy the blood of mothers who give birth to a child that develops autism has some characteristic features that are different from those of blood samples taken from control mothers. These features are related to biologic mechanisms that can affect fetal brain development. In the future, these insights may help identify biomarkers for early autism diagnosis and treatment or preventive measures. Autism Res 2020, 13: 1258-1269. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2311 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 Autism Spectrum Disorder Risk in Relation to Maternal Mid-Pregnancy Serum Hormone and Protein Markers from Prenatal Screening in California / Gayle C. WINDHAM in Journal of Autism and Developmental Disorders, 46-2 (February 2016)
[article]
Titre : Autism Spectrum Disorder Risk in Relation to Maternal Mid-Pregnancy Serum Hormone and Protein Markers from Prenatal Screening in California Type de document : Texte imprimé et/ou numérique Auteurs : Gayle C. WINDHAM, Auteur ; Kristen LYALL, Auteur ; Meredith C. ANDERSON, Auteur ; Martin KHARRAZI, Auteur Année de publication : 2016 Article en page(s) : p.478-488 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Steroid hormones Estrogen Alpha-fetoprotein hCG Prenatal screening Estriol Index. décimale : PER Périodiques Résumé : We examined prenatal screening markers and offspring autism spectrum disorder (ASD) using California statewide data on singleton births in 1996 and 2002. Second trimester levels of unconjugated estriol (uE3), human chorionic gonadotropin (hCG), and maternal serum alpha-fetoprotein (MSAFP) were compared between mothers of children with ASD (n = 2586) and of non-cases (n = 600,103). Adjusted odds ratios (AOR) were calculated by logistic regression. Lower uE3 (AOR for < 10th percentile vs. 25th–74th percentiles = 1.21, 95 % CI 1.06–1.37), and higher MSAFP (AOR = 1.21, 95 % CI 1.07–1.37 for > 90th percentile) were significantly associated with ASD. A U-shaped relationship was seen for hCG (AOR = 1.16, 95 % CI 1.02–1.32 for < 10th percentile; AOR = 1.19, 95 % CI 1.05–1.36 for > 90th percentile). Our results further support prenatal hormone involvement in ASD risk. En ligne : http://dx.doi.org/10.1007/s10803-015-2587-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=280
in Journal of Autism and Developmental Disorders > 46-2 (February 2016) . - p.478-488[article] Autism Spectrum Disorder Risk in Relation to Maternal Mid-Pregnancy Serum Hormone and Protein Markers from Prenatal Screening in California [Texte imprimé et/ou numérique] / Gayle C. WINDHAM, Auteur ; Kristen LYALL, Auteur ; Meredith C. ANDERSON, Auteur ; Martin KHARRAZI, Auteur . - 2016 . - p.478-488.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 46-2 (February 2016) . - p.478-488
Mots-clés : Autism spectrum disorder Steroid hormones Estrogen Alpha-fetoprotein hCG Prenatal screening Estriol Index. décimale : PER Périodiques Résumé : We examined prenatal screening markers and offspring autism spectrum disorder (ASD) using California statewide data on singleton births in 1996 and 2002. Second trimester levels of unconjugated estriol (uE3), human chorionic gonadotropin (hCG), and maternal serum alpha-fetoprotein (MSAFP) were compared between mothers of children with ASD (n = 2586) and of non-cases (n = 600,103). Adjusted odds ratios (AOR) were calculated by logistic regression. Lower uE3 (AOR for < 10th percentile vs. 25th–74th percentiles = 1.21, 95 % CI 1.06–1.37), and higher MSAFP (AOR = 1.21, 95 % CI 1.07–1.37 for > 90th percentile) were significantly associated with ASD. A U-shaped relationship was seen for hCG (AOR = 1.16, 95 % CI 1.02–1.32 for < 10th percentile; AOR = 1.19, 95 % CI 1.05–1.36 for > 90th percentile). Our results further support prenatal hormone involvement in ASD risk. En ligne : http://dx.doi.org/10.1007/s10803-015-2587-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=280