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Faire une suggestionMaternal and cord plasma branched-chain amino acids and child risk of attention-deficit hyperactivity disorder: a prospective birth cohort study / Neha S. ANAND in Journal of Child Psychology and Psychiatry, 62-7 (July 2021)
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Titre : Maternal and cord plasma branched-chain amino acids and child risk of attention-deficit hyperactivity disorder: a prospective birth cohort study Type de document : texte imprimé Auteurs : Neha S. ANAND, Auteur ; Yuelong JI, Auteur ; Guoying WANG, Auteur ; Xiumei HONG, Auteur ; Madeleine VAN DER RIJN, Auteur ; Anne RILEY, Auteur ; Colleen PEARSON, Auteur ; Barry S. ZUCKERMAN, Auteur ; Xiaoming WANG, Auteur Article en page(s) : p.868-875 Langues : Anglais (eng) Mots-clés : Amino Acids, Branched-Chain Attention Deficit Disorder with Hyperactivity/epidemiology Child Cohort Studies Female Humans Infant, Newborn Pregnancy Premature Birth Prospective Studies Attention-Deficit Hyperactivity Disorder branched-chain amino acids cord blood metabolome Index. décimale : PER Périodiques Résumé : BACKGROUND: Branched-chain amino acids (BCAA: leucine, isoleucine, and valine) are essential amino acids involved in biological functions of brain development and recently linked with autism. However, their role in attention-deficit hyperactivity disorder (ADHD) is not well-studied. We investigated individual and combined relationships of maternal plasma and newborn cord plasma BCAAs with childhood development of ADHD. METHODS: We utilized the Boston Birth Cohort, a predominantly urban, low-income, US minority population. Child developmental outcomes were defined in three mutually exclusive groups - ADHD, neurotypical (NT), or other developmental disabilities based on physician diagnoses per ICD-9 or 10 in medical records. The final sample included 626 children (299 ADHD, 327 NT) excluding other developmental disabilities. BCAAs were measured by liquid chromatography-tandem mass spectrometry. We used factor analysis to create composite scores of maternal and cord BCAA, which we divided into tertiles. Logistic regressions analyzed relationships between maternal or cord BCAA tertiles with child ADHD risk, controlling for maternal race, age, parity, smoking, education, low birth weight, preterm birth, and child sex. Additionally, we analyzed maternal and cord plasma BCAAs jointly on child ADHD risk. RESULTS: Adjusted logistic regression found significantly increased odds of child ADHD diagnosis for the second (OR 1.63, 95% CI: 1.04, 2.54, p = .032) and third tertiles (OR 2.01, 95% CI: 1.28, 3.15, p = .002) of cord BCAA scores compared to the first tertile. This finding held for the third tertile when further adjusting for maternal BCAA score. There was no significant association between maternal BCAA score and child ADHD risk, nor a significant interaction between maternal and cord BCAA scores. CONCLUSIONS: In this prospective US birth cohort, higher cord BCAA levels were associated with a greater risk of developing ADHD in childhood. These results have implications for further research into mechanisms of ADHD development and possible early life screening and interventions. En ligne : http://dx.doi.org/10.1111/jcpp.13332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456
in Journal of Child Psychology and Psychiatry > 62-7 (July 2021) . - p.868-875[article] Maternal and cord plasma branched-chain amino acids and child risk of attention-deficit hyperactivity disorder: a prospective birth cohort study [texte imprimé] / Neha S. ANAND, Auteur ; Yuelong JI, Auteur ; Guoying WANG, Auteur ; Xiumei HONG, Auteur ; Madeleine VAN DER RIJN, Auteur ; Anne RILEY, Auteur ; Colleen PEARSON, Auteur ; Barry S. ZUCKERMAN, Auteur ; Xiaoming WANG, Auteur . - p.868-875.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-7 (July 2021) . - p.868-875
Mots-clés : Amino Acids, Branched-Chain Attention Deficit Disorder with Hyperactivity/epidemiology Child Cohort Studies Female Humans Infant, Newborn Pregnancy Premature Birth Prospective Studies Attention-Deficit Hyperactivity Disorder branched-chain amino acids cord blood metabolome Index. décimale : PER Périodiques Résumé : BACKGROUND: Branched-chain amino acids (BCAA: leucine, isoleucine, and valine) are essential amino acids involved in biological functions of brain development and recently linked with autism. However, their role in attention-deficit hyperactivity disorder (ADHD) is not well-studied. We investigated individual and combined relationships of maternal plasma and newborn cord plasma BCAAs with childhood development of ADHD. METHODS: We utilized the Boston Birth Cohort, a predominantly urban, low-income, US minority population. Child developmental outcomes were defined in three mutually exclusive groups - ADHD, neurotypical (NT), or other developmental disabilities based on physician diagnoses per ICD-9 or 10 in medical records. The final sample included 626 children (299 ADHD, 327 NT) excluding other developmental disabilities. BCAAs were measured by liquid chromatography-tandem mass spectrometry. We used factor analysis to create composite scores of maternal and cord BCAA, which we divided into tertiles. Logistic regressions analyzed relationships between maternal or cord BCAA tertiles with child ADHD risk, controlling for maternal race, age, parity, smoking, education, low birth weight, preterm birth, and child sex. Additionally, we analyzed maternal and cord plasma BCAAs jointly on child ADHD risk. RESULTS: Adjusted logistic regression found significantly increased odds of child ADHD diagnosis for the second (OR 1.63, 95% CI: 1.04, 2.54, p = .032) and third tertiles (OR 2.01, 95% CI: 1.28, 3.15, p = .002) of cord BCAA scores compared to the first tertile. This finding held for the third tertile when further adjusting for maternal BCAA score. There was no significant association between maternal BCAA score and child ADHD risk, nor a significant interaction between maternal and cord BCAA scores. CONCLUSIONS: In this prospective US birth cohort, higher cord BCAA levels were associated with a greater risk of developing ADHD in childhood. These results have implications for further research into mechanisms of ADHD development and possible early life screening and interventions. En ligne : http://dx.doi.org/10.1111/jcpp.13332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 Disrupted fetal carbohydrate metabolism in children with autism spectrum disorder / Serena B. GUMUSOGLU in Journal of Neurodevelopmental Disorders, 17 (2025)
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Titre : Disrupted fetal carbohydrate metabolism in children with autism spectrum disorder Type de document : texte imprimé Auteurs : Serena B. GUMUSOGLU, Auteur ; Brandon M. SCHICKLING, Auteur ; Donna A. SANTILLAN, Auteur ; Lynn M. TEESCH, Auteur ; Mark K. SANTILLAN, Auteur Langues : Anglais (eng) Mots-clés : Humans Autism Spectrum Disorder/metabolism/blood/diagnosis Female Male Carbohydrate Metabolism/physiology Biomarkers/blood Fetal Blood/metabolism Metabolomics Child Pregnancy Gas Chromatography-Mass Spectrometry Case-Control Studies Autism Carbohydrates Cord blood Monosaccharides Polysaccharides used in this study are derived from a tissue bank which is approved by the University of Iowa Institutional Review Board (IRB #: 200910784). This study was performed in line with the principles of the Declaration of Helsinki. Informed consent was obtained from all individual participants included in the study. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Despite the power and promise of early detection and treatment in autism spectrum disorder (ASD), early-life biomarkers are limited. An early-life risk biosignature would advance the field's understanding of ASD pathogenies and targets for early diagnosis and intervention. We therefore sought to add to the growing ASD biomarker literature and evaluate whether fetal metabolomics are altered in idiopathic ASD. METHODS: Banked cord blood plasma samples (N = 36 control, 16 ASD) were analyzed via gas chromatography and mass spectrometry (GC-MS). Samples were from babies later diagnosed with idiopathic ASD (non-familial, non-syndromic) or matched, neurotypical controls. Metabolite set enrichment analysis (MSEA) and biomarker prediction were performed (MetaboAnalyst). RESULTS: We detected 76 metabolites in all samples. Of these, 20 metabolites differed significantly between groups: 10 increased and 10 decreased in ASD samples relative to neurotypical controls (p < 0.05). MSEA revealed significant changes in metabolic pathways related to carbohydrate metabolism and glycemic control. Untargeted principle components analysis of all metabolites did not reveal group differences, while targeted biomarker assessment (using only Fructose 6-phosphate, D-Mannose, and D-Fructose) by a Random Forest algorithm generated an area under the curve (AUC) = 0.766 (95% CI: 0.612-0.896) for ASD prediction. CONCLUSIONS: Despite a high and increasing prevalence, ASD has no definitive biomarkers or available treatments for its core symptoms. ASD's earliest developmental antecedents remain unclear. We find that fetal plasma metabolomics differ with child ASD status, in particular invoking altered carbohydrate metabolism. While prior clinical and preclinical work has linked carbohydrate metabolism to ASD, no prior fetal studies have reported these disruptions in neonates or fetuses who go on to be diagnosed with ASD. Future work will investigate concordance with maternal metabolomics to determine maternal-fetal mechanisms. En ligne : https://dx.doi.org/10.1186/s11689-025-09601-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576
in Journal of Neurodevelopmental Disorders > 17 (2025)[article] Disrupted fetal carbohydrate metabolism in children with autism spectrum disorder [texte imprimé] / Serena B. GUMUSOGLU, Auteur ; Brandon M. SCHICKLING, Auteur ; Donna A. SANTILLAN, Auteur ; Lynn M. TEESCH, Auteur ; Mark K. SANTILLAN, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 17 (2025)
Mots-clés : Humans Autism Spectrum Disorder/metabolism/blood/diagnosis Female Male Carbohydrate Metabolism/physiology Biomarkers/blood Fetal Blood/metabolism Metabolomics Child Pregnancy Gas Chromatography-Mass Spectrometry Case-Control Studies Autism Carbohydrates Cord blood Monosaccharides Polysaccharides used in this study are derived from a tissue bank which is approved by the University of Iowa Institutional Review Board (IRB #: 200910784). This study was performed in line with the principles of the Declaration of Helsinki. Informed consent was obtained from all individual participants included in the study. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Despite the power and promise of early detection and treatment in autism spectrum disorder (ASD), early-life biomarkers are limited. An early-life risk biosignature would advance the field's understanding of ASD pathogenies and targets for early diagnosis and intervention. We therefore sought to add to the growing ASD biomarker literature and evaluate whether fetal metabolomics are altered in idiopathic ASD. METHODS: Banked cord blood plasma samples (N = 36 control, 16 ASD) were analyzed via gas chromatography and mass spectrometry (GC-MS). Samples were from babies later diagnosed with idiopathic ASD (non-familial, non-syndromic) or matched, neurotypical controls. Metabolite set enrichment analysis (MSEA) and biomarker prediction were performed (MetaboAnalyst). RESULTS: We detected 76 metabolites in all samples. Of these, 20 metabolites differed significantly between groups: 10 increased and 10 decreased in ASD samples relative to neurotypical controls (p < 0.05). MSEA revealed significant changes in metabolic pathways related to carbohydrate metabolism and glycemic control. Untargeted principle components analysis of all metabolites did not reveal group differences, while targeted biomarker assessment (using only Fructose 6-phosphate, D-Mannose, and D-Fructose) by a Random Forest algorithm generated an area under the curve (AUC) = 0.766 (95% CI: 0.612-0.896) for ASD prediction. CONCLUSIONS: Despite a high and increasing prevalence, ASD has no definitive biomarkers or available treatments for its core symptoms. ASD's earliest developmental antecedents remain unclear. We find that fetal plasma metabolomics differ with child ASD status, in particular invoking altered carbohydrate metabolism. While prior clinical and preclinical work has linked carbohydrate metabolism to ASD, no prior fetal studies have reported these disruptions in neonates or fetuses who go on to be diagnosed with ASD. Future work will investigate concordance with maternal metabolomics to determine maternal-fetal mechanisms. En ligne : https://dx.doi.org/10.1186/s11689-025-09601-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 DNA methylation biomarkers of intellectual/developmental disability across the lifespan / Janine M. LASALLE in Journal of Neurodevelopmental Disorders, 17 (2025)
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Titre : DNA methylation biomarkers of intellectual/developmental disability across the lifespan Type de document : texte imprimé Auteurs : Janine M. LASALLE, Auteur Langues : Anglais (eng) Mots-clés : Humans DNA Methylation Intellectual Disability/genetics/diagnosis/metabolism Developmental Disabilities/genetics/diagnosis/metabolism Biomarkers/metabolism Epigenesis, Genetic Female Pregnancy Aging Autism Biomarkers Cell free DNA Cord blood DNA methylation Down syndrome Dup15q syndrome Epigenetic clock Epigenetics Exposure Genomic Placenta for publication: Not applicable. Competing interests: Dr. LaSalle is a co-founder and Chief Scientific Officer at 2C Bioscience Inc. Index. décimale : PER Périodiques Résumé : Epigenetic mechanisms, including DNA methylation, act at the interface of genes and environment by allowing a static genome to respond and adapt to a dynamic environment during the lifespan of an individual. Genome-wide DNA methylation analyses on a wide range of human biospecimens are beginning to identify epigenetic biomarkers that can predict risk of intellectual/developmental disabilities (IDD). DNA methylation-based epigenetic signatures are becoming clinically useful in categorizing benign from pathogenic genetic variants following exome sequencing. While DNA methylation marks differ by tissue source, recent studies have shown that accessible perinatal tissues, such as placenta, cord blood, newborn blood spots, and cell free DNA may serve as accessible surrogate tissues for testing epigenetic biomarkers relevant to understanding genetic, environmental, and gene by environment interactions on the developing brain. These DNA methylation signatures may also provide important information about the biological pathways that become dysregulated prior to disease progression that could be used to develop early pharmacological interventions. Future applications could involve preventative screenings using DNA methylation biomarkers during pregnancy or the newborn period for IDDs and other neurodevelopmental disorders. DNA methylation biomarkers in adolescence and adulthood are also likely to be clinically useful for tracking biological aging or co-occurring health conditions that develop across the lifespan. In conclusion, DNA methylation biomarkers are expected to become more common in clinical diagnoses of IDD, to improve understanding of complex IDD etiologies, to improve endpoints for clinical trials, and to monitor potential health concerns for individuals with IDD as they age. En ligne : https://dx.doi.org/10.1186/s11689-025-09598-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576
in Journal of Neurodevelopmental Disorders > 17 (2025)[article] DNA methylation biomarkers of intellectual/developmental disability across the lifespan [texte imprimé] / Janine M. LASALLE, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 17 (2025)
Mots-clés : Humans DNA Methylation Intellectual Disability/genetics/diagnosis/metabolism Developmental Disabilities/genetics/diagnosis/metabolism Biomarkers/metabolism Epigenesis, Genetic Female Pregnancy Aging Autism Biomarkers Cell free DNA Cord blood DNA methylation Down syndrome Dup15q syndrome Epigenetic clock Epigenetics Exposure Genomic Placenta for publication: Not applicable. Competing interests: Dr. LaSalle is a co-founder and Chief Scientific Officer at 2C Bioscience Inc. Index. décimale : PER Périodiques Résumé : Epigenetic mechanisms, including DNA methylation, act at the interface of genes and environment by allowing a static genome to respond and adapt to a dynamic environment during the lifespan of an individual. Genome-wide DNA methylation analyses on a wide range of human biospecimens are beginning to identify epigenetic biomarkers that can predict risk of intellectual/developmental disabilities (IDD). DNA methylation-based epigenetic signatures are becoming clinically useful in categorizing benign from pathogenic genetic variants following exome sequencing. While DNA methylation marks differ by tissue source, recent studies have shown that accessible perinatal tissues, such as placenta, cord blood, newborn blood spots, and cell free DNA may serve as accessible surrogate tissues for testing epigenetic biomarkers relevant to understanding genetic, environmental, and gene by environment interactions on the developing brain. These DNA methylation signatures may also provide important information about the biological pathways that become dysregulated prior to disease progression that could be used to develop early pharmacological interventions. Future applications could involve preventative screenings using DNA methylation biomarkers during pregnancy or the newborn period for IDDs and other neurodevelopmental disorders. DNA methylation biomarkers in adolescence and adulthood are also likely to be clinically useful for tracking biological aging or co-occurring health conditions that develop across the lifespan. In conclusion, DNA methylation biomarkers are expected to become more common in clinical diagnoses of IDD, to improve understanding of complex IDD etiologies, to improve endpoints for clinical trials, and to monitor potential health concerns for individuals with IDD as they age. En ligne : https://dx.doi.org/10.1186/s11689-025-09598-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 The perinatal androgen to estrogen ratio and autistic-like traits in the general population: a longitudinal pregnancy cohort study / Esha S.L. JAMNADASS in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
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[article]
Titre : The perinatal androgen to estrogen ratio and autistic-like traits in the general population: a longitudinal pregnancy cohort study Type de document : texte imprimé Auteurs : Esha S.L. JAMNADASS, Auteur ; Jeff A. KEELAN, Auteur ; Lauren P. HOLLIER, Auteur ; Martha HICKEY, Auteur ; Murray T. MAYBERY, Auteur ; Andrew J.O. WHITEHOUSE, Auteur Article en page(s) : p.17 Langues : Anglais (eng) Mots-clés : Androgens Autism-Spectrum Quotient Autistic-like traits Cord blood Estrogens Perinatal Sex steroids Index. décimale : PER Périodiques Résumé : BACKGROUND: Prenatal androgen exposure has been hypothesized to be linked to autism spectrum disorder (ASD). While previous studies have found a link between testosterone levels in amniotic fluid and autistic-like traits, a similar relationship has not been found for testosterone in umbilical cord blood. However, it may be the net biological activity of multiple androgens and estrogens that influences postnatal effects of prenatal sex steroids. Accordingly, composite levels of androgens (A) and estrogens (E) were investigated, along with their ratio, in relation to autistic-like traits in young adulthood. METHODS: Sex steroid data in umbilical cord blood were available from 860 individuals at delivery. Samples were analyzed for androgens (testosterone, androstenedione, and dehydroepiandrosterone) and estrogens (estrone, estradiol, estriol, and estetrol). Levels of bioavailable testosterone, estradiol, and estrone were measured and used to calculate A and E composites and the A to E ratio. Participants were approached in early adulthood to complete the autism-spectrum quotient (AQ) as a self-report measure of autistic-like traits, with 183 males (M = 20.10 years, SD = 0.65 years) and 189 females (M =19.92 years, SD = 0.68 years) providing data. RESULTS: Males exhibited significantly higher androgen composites and A to E composite ratios than females. Males also scored significantly higher on the details/patterns subscale of the AQ. Subsequent categorical and continuous analyses, which accounted for covariates, revealed no substantial relationships between the A/E composites or the A to E ratio and the AQ total or subscale scores. CONCLUSIONS: The current study found no link between the A/E composites or the A to E ratio in cord blood and autistic-like traits in the population as measured by the AQ. These outcomes do not exclude the possibility that these sex steroid variables may predict other neurodevelopmental traits in early development. En ligne : http://dx.doi.org/10.1186/s11689-015-9114-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.17[article] The perinatal androgen to estrogen ratio and autistic-like traits in the general population: a longitudinal pregnancy cohort study [texte imprimé] / Esha S.L. JAMNADASS, Auteur ; Jeff A. KEELAN, Auteur ; Lauren P. HOLLIER, Auteur ; Martha HICKEY, Auteur ; Murray T. MAYBERY, Auteur ; Andrew J.O. WHITEHOUSE, Auteur . - p.17.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.17
Mots-clés : Androgens Autism-Spectrum Quotient Autistic-like traits Cord blood Estrogens Perinatal Sex steroids Index. décimale : PER Périodiques Résumé : BACKGROUND: Prenatal androgen exposure has been hypothesized to be linked to autism spectrum disorder (ASD). While previous studies have found a link between testosterone levels in amniotic fluid and autistic-like traits, a similar relationship has not been found for testosterone in umbilical cord blood. However, it may be the net biological activity of multiple androgens and estrogens that influences postnatal effects of prenatal sex steroids. Accordingly, composite levels of androgens (A) and estrogens (E) were investigated, along with their ratio, in relation to autistic-like traits in young adulthood. METHODS: Sex steroid data in umbilical cord blood were available from 860 individuals at delivery. Samples were analyzed for androgens (testosterone, androstenedione, and dehydroepiandrosterone) and estrogens (estrone, estradiol, estriol, and estetrol). Levels of bioavailable testosterone, estradiol, and estrone were measured and used to calculate A and E composites and the A to E ratio. Participants were approached in early adulthood to complete the autism-spectrum quotient (AQ) as a self-report measure of autistic-like traits, with 183 males (M = 20.10 years, SD = 0.65 years) and 189 females (M =19.92 years, SD = 0.68 years) providing data. RESULTS: Males exhibited significantly higher androgen composites and A to E composite ratios than females. Males also scored significantly higher on the details/patterns subscale of the AQ. Subsequent categorical and continuous analyses, which accounted for covariates, revealed no substantial relationships between the A/E composites or the A to E ratio and the AQ total or subscale scores. CONCLUSIONS: The current study found no link between the A/E composites or the A to E ratio in cord blood and autistic-like traits in the population as measured by the AQ. These outcomes do not exclude the possibility that these sex steroid variables may predict other neurodevelopmental traits in early development. En ligne : http://dx.doi.org/10.1186/s11689-015-9114-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

