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A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project / Alan M. SMITH in Autism Research, 13-8 (August 2020)
[article]
Titre : A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project Type de document : Texte imprimé et/ou numérique Auteurs : Alan M. SMITH, Auteur ; Marvin R. NATOWICZ, Auteur ; Daniel BRAAS, Auteur ; Michael A. LUDWIG, Auteur ; Denise M. NEY, Auteur ; Elizabeth L. R. DONLEY, Auteur ; Robert E. BURRIER, Auteur ; David G. AMARAL, Auteur Article en page(s) : p.1270-1285 Langues : Anglais (eng) Mots-clés : amino acids autism spectrum disorder biomarkers energy metabolism metabolomics mitochondria risk Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is biologically and behaviorally heterogeneous. Delayed diagnosis of ASD is common and problematic. The complexity of ASD and the low sensitivity of available screening tools are key factors in delayed diagnosis. Identification of biomarkers that reduce complexity through stratification into reliable subpopulations can assist in earlier diagnosis, provide insight into the biology of ASD, and potentially suggest targeted interventions. Quantitative metabolomic analysis was performed on plasma samples from 708 fasting children, aged 18 to 48?months, enrolled in the Children's Autism Metabolome Project (CAMP). The primary goal was to identify alterations in metabolism helpful in stratifying ASD subjects into subpopulations with shared metabolic phenotypes (i.e., metabotypes). Metabotypes associated with ASD were identified in a discovery set of 357 subjects. The reproducibility of the metabotypes was validated in an independent replication set of 351 CAMP subjects. Thirty-four candidate metabotypes that differentiated subsets of ASD from typically developing participants were identified with sensitivity of at least 5% and specificity greater than 95%. The 34 metabotypes formed six metabolic clusters based on ratios of either lactate or pyruvate, succinate, glycine, ornithine, 4-hydroxyproline, or ?-ketoglutarate with other metabolites. Optimization of a subset of new and previously defined metabotypes into a screening battery resulted in 53% sensitivity (95% confidence interval [CI], 48%-57%) and 91% specificity (95% CI, 86%-94%). Thus, our metabolomic screening tool detects more than 50% of the autistic participants in the CAMP study. Further development of this metabolomic screening approach may facilitate earlier referral and diagnosis of ASD and, ultimately, more targeted treatments. LAY SUMMARY: Analysis of a selected set of metabolites in blood samples from children with autism and typically developing children identified reproducible differences in the metabolism of about half of the children with autism. Testing for these differences in blood samples can be used to help screen children as young as 18?months for risk of autism that, in turn, can facilitate earlier diagnoses. In addition, differences may lead to biological insights that produce more precise treatment options. We are exploring other blood-based molecules to determine if still a higher percentage of children with autism can be detected using this strategy. Autism Res 2020, 13: 1270-1285. © 2020 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2330 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.1270-1285[article] A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project [Texte imprimé et/ou numérique] / Alan M. SMITH, Auteur ; Marvin R. NATOWICZ, Auteur ; Daniel BRAAS, Auteur ; Michael A. LUDWIG, Auteur ; Denise M. NEY, Auteur ; Elizabeth L. R. DONLEY, Auteur ; Robert E. BURRIER, Auteur ; David G. AMARAL, Auteur . - p.1270-1285.
Langues : Anglais (eng)
in Autism Research > 13-8 (August 2020) . - p.1270-1285
Mots-clés : amino acids autism spectrum disorder biomarkers energy metabolism metabolomics mitochondria risk Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is biologically and behaviorally heterogeneous. Delayed diagnosis of ASD is common and problematic. The complexity of ASD and the low sensitivity of available screening tools are key factors in delayed diagnosis. Identification of biomarkers that reduce complexity through stratification into reliable subpopulations can assist in earlier diagnosis, provide insight into the biology of ASD, and potentially suggest targeted interventions. Quantitative metabolomic analysis was performed on plasma samples from 708 fasting children, aged 18 to 48?months, enrolled in the Children's Autism Metabolome Project (CAMP). The primary goal was to identify alterations in metabolism helpful in stratifying ASD subjects into subpopulations with shared metabolic phenotypes (i.e., metabotypes). Metabotypes associated with ASD were identified in a discovery set of 357 subjects. The reproducibility of the metabotypes was validated in an independent replication set of 351 CAMP subjects. Thirty-four candidate metabotypes that differentiated subsets of ASD from typically developing participants were identified with sensitivity of at least 5% and specificity greater than 95%. The 34 metabotypes formed six metabolic clusters based on ratios of either lactate or pyruvate, succinate, glycine, ornithine, 4-hydroxyproline, or ?-ketoglutarate with other metabolites. Optimization of a subset of new and previously defined metabotypes into a screening battery resulted in 53% sensitivity (95% confidence interval [CI], 48%-57%) and 91% specificity (95% CI, 86%-94%). Thus, our metabolomic screening tool detects more than 50% of the autistic participants in the CAMP study. Further development of this metabolomic screening approach may facilitate earlier referral and diagnosis of ASD and, ultimately, more targeted treatments. LAY SUMMARY: Analysis of a selected set of metabolites in blood samples from children with autism and typically developing children identified reproducible differences in the metabolism of about half of the children with autism. Testing for these differences in blood samples can be used to help screen children as young as 18?months for risk of autism that, in turn, can facilitate earlier diagnoses. In addition, differences may lead to biological insights that produce more precise treatment options. We are exploring other blood-based molecules to determine if still a higher percentage of children with autism can be detected using this strategy. Autism Res 2020, 13: 1270-1285. © 2020 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2330 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 Mitochondrial Dysfunction in Autism Spectrum Disorders / Maheen F. SIDDIQUI in Autism - Open Access, 6-5 ([01/09/2016])
[article]
Titre : Mitochondrial Dysfunction in Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Maheen F. SIDDIQUI, Auteur ; Clare ELWELL, Auteur ; Mark H. JOHNSON, Auteur Article en page(s) : 7 p. Langues : Anglais (eng) Mots-clés : Autism Mitochondrial dysfunction Mitochondrial health Energy metabolism Electron transport chain Mitochondrial deficiency Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. Recently, evidence has accrued that a significant proportion of individuals with autism have concomitant diseases such as mitochondrial disease and abnormalities of energy generation. This has therefore led to the hypothesis that autism may be linked to mitochondrial dysfunction. We review such studies reporting decreased activity of mitochondrial electron transport chain (ETC) complexes and reduced gene expression of mitochondrial genes, in particular genes of respiratory chain complexes, in individuals with autism. Overall, the findings support the hypothesis that there is an association of ASD with impaired mitochondrial function; however, many of the studies have small sample sizes and there is variability in the techniques utilised. There is therefore a vital need to utilise novel imaging techniques, such as near-infrared spectroscopy, that will allow non-invasive measurement of metabolic markers for neuronal activity such as cytochrome c oxidase, in order to better establish the link between autism and mitochondrial dysfunction. En ligne : https://dx.doi.org/10.4172/2165-7890.1000190 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410
in Autism - Open Access > 6-5 [01/09/2016] . - 7 p.[article] Mitochondrial Dysfunction in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Maheen F. SIDDIQUI, Auteur ; Clare ELWELL, Auteur ; Mark H. JOHNSON, Auteur . - 7 p.
Langues : Anglais (eng)
in Autism - Open Access > 6-5 [01/09/2016] . - 7 p.
Mots-clés : Autism Mitochondrial dysfunction Mitochondrial health Energy metabolism Electron transport chain Mitochondrial deficiency Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. Recently, evidence has accrued that a significant proportion of individuals with autism have concomitant diseases such as mitochondrial disease and abnormalities of energy generation. This has therefore led to the hypothesis that autism may be linked to mitochondrial dysfunction. We review such studies reporting decreased activity of mitochondrial electron transport chain (ETC) complexes and reduced gene expression of mitochondrial genes, in particular genes of respiratory chain complexes, in individuals with autism. Overall, the findings support the hypothesis that there is an association of ASD with impaired mitochondrial function; however, many of the studies have small sample sizes and there is variability in the techniques utilised. There is therefore a vital need to utilise novel imaging techniques, such as near-infrared spectroscopy, that will allow non-invasive measurement of metabolic markers for neuronal activity such as cytochrome c oxidase, in order to better establish the link between autism and mitochondrial dysfunction. En ligne : https://dx.doi.org/10.4172/2165-7890.1000190 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=410