Altered markers of mitochondrial function in adults with autism spectrum disorder / Mia MENKE ; Dominique ENDRES ; Kimon RUNGE ; Sara TUCCI ; Anke SCHUMANN ; Katharina DOMSCHKE ; Ludger TEBARTZ VAN ELST ; Simon MAIER in Autism Research, 16-11 (November 2023)  

Public ISBD [article]  inAutism Research > 16-11 (November 2023) . - p.2125-2138 Titre : Altered markers of mitochondrial function in adults with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Mia MENKE, Auteur ; Dominique ENDRES, Auteur ; Kimon RUNGE, Auteur ; Sara TUCCI, Auteur ; Anke SCHUMANN, Auteur ; Katharina DOMSCHKE, Auteur ; Ludger TEBARTZ VAN ELST, Auteur ; Simon MAIER, Auteur Article en page(s) : p.2125-2138 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Previous research suggests potential mitochondrial dysfunction and changes in fatty acid metabolism in a subgroup of individuals with autism spectrum disorder (ASD), indicated by higher lactate, pyruvate levels, and mitochondrial disorder prevalence. This study aimed to further investigate potential mitochondrial dysfunction in ASD by assessing blood metabolite levels linked to mitochondrial metabolism. Blood levels of creatine kinase (CK), alanine aminotransferase (ALT), aspartate aminotransferase (AST), lactate, pyruvate, free and total carnitine, as well as acylcarnitines were obtained in 73 adults with ASD (47 males, 26 females) and compared with those of 71 neurotypical controls (NTC) (44 males, 27 females). Correlations between blood parameters and psychometric ASD symptom scores were also explored. Lower CK (pcorr=0.045) levels were found exclusively in males with ASD compared to NTC, with no such variation in females. ALT and AST levels did not differ significantly between both groups. After correction for antipsychotic and antidepressant medication, CK remained significant. ASD participants had lower serum lactate levels (pcorr=0.036) compared to NTC, but pyruvate and carnitine concentrations showed no significant difference. ASD subjects had significantly increased levels of certain acylcarnitines, with a decrease in tetradecadienoyl-carnitine (C14:2), and certain acylcarnitines correlated significantly with autistic symptom scores. We found reduced serum lactate levels in ASD, in contrast to previous studies suggesting elevated lactate or pyruvate. This difference may reflect the focus of our study on high-functioning adults with ASD, who are likely to have fewer secondary genetic conditions associated with mitochondrial dysfunction. Our findings of significantly altered acylcarnitine levels in ASD support the hypothesis of altered fatty acid metabolism in a subset of ASD patients. En ligne : https://doi.org/10.1002/aur.3029 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=517 [article] Altered markers of mitochondrial function in adults with autism spectrum disorder [Texte imprimé et/ou numérique] / Mia MENKE, Auteur ; Dominique ENDRES, Auteur ; Kimon RUNGE, Auteur ; Sara TUCCI, Auteur ; Anke SCHUMANN, Auteur ; Katharina DOMSCHKE, Auteur ; Ludger TEBARTZ VAN ELST, Auteur ; Simon MAIER, Auteur . - p.2125-2138. Langues : Anglais (eng) in Autism Research > 16-11 (November 2023) . - p.2125-2138 Index. décimale : PER Périodiques Résumé : Abstract Previous research suggests potential mitochondrial dysfunction and changes in fatty acid metabolism in a subgroup of individuals with autism spectrum disorder (ASD), indicated by higher lactate, pyruvate levels, and mitochondrial disorder prevalence. This study aimed to further investigate potential mitochondrial dysfunction in ASD by assessing blood metabolite levels linked to mitochondrial metabolism. Blood levels of creatine kinase (CK), alanine aminotransferase (ALT), aspartate aminotransferase (AST), lactate, pyruvate, free and total carnitine, as well as acylcarnitines were obtained in 73 adults with ASD (47 males, 26 females) and compared with those of 71 neurotypical controls (NTC) (44 males, 27 females). Correlations between blood parameters and psychometric ASD symptom scores were also explored. Lower CK (pcorr=0.045) levels were found exclusively in males with ASD compared to NTC, with no such variation in females. ALT and AST levels did not differ significantly between both groups. After correction for antipsychotic and antidepressant medication, CK remained significant. ASD participants had lower serum lactate levels (pcorr=0.036) compared to NTC, but pyruvate and carnitine concentrations showed no significant difference. ASD subjects had significantly increased levels of certain acylcarnitines, with a decrease in tetradecadienoyl-carnitine (C14:2), and certain acylcarnitines correlated significantly with autistic symptom scores. We found reduced serum lactate levels in ASD, in contrast to previous studies suggesting elevated lactate or pyruvate. This difference may reflect the focus of our study on high-functioning adults with ASD, who are likely to have fewer secondary genetic conditions associated with mitochondrial dysfunction. Our findings of significantly altered acylcarnitine levels in ASD support the hypothesis of altered fatty acid metabolism in a subset of ASD patients. En ligne : https://doi.org/10.1002/aur.3029 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=517

Electroretinography in adults with high-functioning autism spectrum disorder / Evelyn B. N. FRIEDEL in Autism Research, 15-11 (November 2022)  

Public ISBD [article]  inAutism Research > 15-11 (November 2022) . - p.2026-2037 Titre : Electroretinography in adults with high-functioning autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Evelyn B. N. FRIEDEL, Auteur ; Mirjam SCHAFER, Auteur ; Dominique ENDRES, Auteur ; Simon MAIER, Auteur ; Kimon RUNGE, Auteur ; Michael BACH, Auteur ; Sven P. HEINRICH, Auteur ; Dieter EBERT, Auteur ; Katharina DOMSCHKE, Auteur ; Ludger TEBARTZ VAN ELST, Auteur ; Kathrin NICKEL, Auteur Article en page(s) : p.2026-2037 Langues : Anglais (eng) Mots-clés : Adult  Humans  Electroretinography/methods  Retinal Ganglion Cells/physiology  Autism Spectrum Disorder  Photic Stimulation  Retina/physiology  Asd  Erg  PhNR  a-wave  autism spectrum disorder  b-wave  electroretinogram  photopic negative response Index. décimale : PER Périodiques Résumé : The electroretinogram (ERG) allows the investigation of retinal signaling pathways and has increasingly been applied in individuals with mental disorders in search for potential biomarkers of neurodevelopmental disorders. Preceding ERG examinations in individuals with autism spectrum disorders (ASD) showed inconsistent results, which might be due to the small number of participants, heterogeneity of the ASD population, differences in age ranges, and stimulation methods. The aim of this study was to investigate functional retinal responses in adults with ASD by means of the light-adapted (photopic) ERG. Light-adapted ERG measurements were obtained with the RETeval® system applying three different stimulation protocols. In the final analysis, the ERG parameters a-wave, b-wave, the photopic negative response (PhNR), the photopic hill parameters as well as additional amplitude ratios were compared between 32 adults with high-functioning ASD and 31 non-autistic controls. Both groups were matched with regard to sex and age. No significant functional retinal differences in amplitude or peak time of the a- or b-wave, PhNR, the photopic hill parameters or the ERG-amplitude ratios could be detected in individuals with ASD compared to non-autistic participants. The absence of electrophysiological functional retinal alterations in ASD, suggests that changes in visual perception, such as increased attention to detail or visual hypersensitivity in ASD, are not due to impairments at early levels of retinal signal processing. En ligne : http://dx.doi.org/10.1002/aur.2823 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 [article] Electroretinography in adults with high-functioning autism spectrum disorder [Texte imprimé et/ou numérique] / Evelyn B. N. FRIEDEL, Auteur ; Mirjam SCHAFER, Auteur ; Dominique ENDRES, Auteur ; Simon MAIER, Auteur ; Kimon RUNGE, Auteur ; Michael BACH, Auteur ; Sven P. HEINRICH, Auteur ; Dieter EBERT, Auteur ; Katharina DOMSCHKE, Auteur ; Ludger TEBARTZ VAN ELST, Auteur ; Kathrin NICKEL, Auteur . - p.2026-2037. Langues : Anglais (eng) in Autism Research > 15-11 (November 2022) . - p.2026-2037 Mots-clés : Adult  Humans  Electroretinography/methods  Retinal Ganglion Cells/physiology  Autism Spectrum Disorder  Photic Stimulation  Retina/physiology  Asd  Erg  PhNR  a-wave  autism spectrum disorder  b-wave  electroretinogram  photopic negative response Index. décimale : PER Périodiques Résumé : The electroretinogram (ERG) allows the investigation of retinal signaling pathways and has increasingly been applied in individuals with mental disorders in search for potential biomarkers of neurodevelopmental disorders. Preceding ERG examinations in individuals with autism spectrum disorders (ASD) showed inconsistent results, which might be due to the small number of participants, heterogeneity of the ASD population, differences in age ranges, and stimulation methods. The aim of this study was to investigate functional retinal responses in adults with ASD by means of the light-adapted (photopic) ERG. Light-adapted ERG measurements were obtained with the RETeval® system applying three different stimulation protocols. In the final analysis, the ERG parameters a-wave, b-wave, the photopic negative response (PhNR), the photopic hill parameters as well as additional amplitude ratios were compared between 32 adults with high-functioning ASD and 31 non-autistic controls. Both groups were matched with regard to sex and age. No significant functional retinal differences in amplitude or peak time of the a- or b-wave, PhNR, the photopic hill parameters or the ERG-amplitude ratios could be detected in individuals with ASD compared to non-autistic participants. The absence of electrophysiological functional retinal alterations in ASD, suggests that changes in visual perception, such as increased attention to detail or visual hypersensitivity in ASD, are not due to impairments at early levels of retinal signal processing. En ligne : http://dx.doi.org/10.1002/aur.2823 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488

Increased prefrontal GABA concentrations in adults with autism spectrum disorders / Simon MAIER in Autism Research, 15-7 (July 2022)  

Public ISBD [article]  inAutism Research > 15-7 (July 2022) . - p.1222-1236 Titre : Increased prefrontal GABA concentrations in adults with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Simon MAIER, Auteur ; Ansgard Lena DÜPPERS, Auteur ; Kimon RUNGE, Auteur ; Michael DACKO, Auteur ; Thomas LANGE, Auteur ; Thomas FANGMEIER, Auteur ; Andreas RIEDEL, Auteur ; Dieter EBERT, Auteur ; Dominique ENDRES, Auteur ; Katharina DOMSCHKE, Auteur ; Evgeniy PERLOV, Auteur ; Kathrin NICKEL, Auteur ; Ludger TEBARTZ VAN ELST, Auteur Article en page(s) : p.1222-1236 Langues : Anglais (eng) Mots-clés : Gaba  anterior cingulate cortex  autism spectrum disorder  dorsolateral prefrontal cortex  gamma-aminobutyric acid  glutamate Index. décimale : PER Périodiques Résumé : The excitatory-inhibitory imbalance hypothesis postulates dysregulation of the gamma-aminobutyric acid (GABA) and glutamate (Glu) neurotransmitter systems as a common underlying deficit in individuals with autism spectrum disorders (ASD). Previous studies suggest an important role of these systems in the pathophysiology of ASD, including a study of our group reporting decreased glutamate concentrations in the pregenual anterior cingulate cortex (ACC) of adults with ASD. The aim of this study was to replicate our previous findings of impaired glutamate metabolism in ASD in a new sample and to additionally quantify GABA in the ACC and dorsolateral prefrontal cortex (dlPFC). Concentrations of GABA and glutamate-glutamine (Glx; combined glutamate and glutamine signal) were quantified in the ACC and dlPFC of 43 adults with ASD and 43 neurotypical controls (NTC) by magnetic resonance spectroscopy (MRS). The ASD group showed increased absolute GABA concentrations and elevated GABA/creatine ratios in the left dlPFC compared to NTC, while no group differences were detected in the pregenual and dorsal ACC. Previous findings of altered Glx concentration in the pregenual ACC of the ASD group could not be replicated. Regarding Glx concentrations and Glx/creatine ratios, there were no significant differences in the dlPFC and ACC either. The study supports the hypothesis of an altered GABA and glutamate equilibrium, indicating an imbalance between excitatory and inhibitory metabolism in ASD patients. However, inconsistent results across studies and brain regions suggest a complex underlying phenomenon. LAY SUMMARY: Adults of the autism spectrum exhibit elevated levels of the inhibitory neurotransmitter GABA in the left dorsolateral prefrontal cortex. This finding supports the hypothesis of an imbalance between excitatory and inhibitory equilibrium in patients with autism spectrum disorders. En ligne : http://dx.doi.org/10.1002/aur.2740 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 [article] Increased prefrontal GABA concentrations in adults with autism spectrum disorders [Texte imprimé et/ou numérique] / Simon MAIER, Auteur ; Ansgard Lena DÜPPERS, Auteur ; Kimon RUNGE, Auteur ; Michael DACKO, Auteur ; Thomas LANGE, Auteur ; Thomas FANGMEIER, Auteur ; Andreas RIEDEL, Auteur ; Dieter EBERT, Auteur ; Dominique ENDRES, Auteur ; Katharina DOMSCHKE, Auteur ; Evgeniy PERLOV, Auteur ; Kathrin NICKEL, Auteur ; Ludger TEBARTZ VAN ELST, Auteur . - p.1222-1236. Langues : Anglais (eng) in Autism Research > 15-7 (July 2022) . - p.1222-1236 Mots-clés : Gaba  anterior cingulate cortex  autism spectrum disorder  dorsolateral prefrontal cortex  gamma-aminobutyric acid  glutamate Index. décimale : PER Périodiques Résumé : The excitatory-inhibitory imbalance hypothesis postulates dysregulation of the gamma-aminobutyric acid (GABA) and glutamate (Glu) neurotransmitter systems as a common underlying deficit in individuals with autism spectrum disorders (ASD). Previous studies suggest an important role of these systems in the pathophysiology of ASD, including a study of our group reporting decreased glutamate concentrations in the pregenual anterior cingulate cortex (ACC) of adults with ASD. The aim of this study was to replicate our previous findings of impaired glutamate metabolism in ASD in a new sample and to additionally quantify GABA in the ACC and dorsolateral prefrontal cortex (dlPFC). Concentrations of GABA and glutamate-glutamine (Glx; combined glutamate and glutamine signal) were quantified in the ACC and dlPFC of 43 adults with ASD and 43 neurotypical controls (NTC) by magnetic resonance spectroscopy (MRS). The ASD group showed increased absolute GABA concentrations and elevated GABA/creatine ratios in the left dlPFC compared to NTC, while no group differences were detected in the pregenual and dorsal ACC. Previous findings of altered Glx concentration in the pregenual ACC of the ASD group could not be replicated. Regarding Glx concentrations and Glx/creatine ratios, there were no significant differences in the dlPFC and ACC either. The study supports the hypothesis of an altered GABA and glutamate equilibrium, indicating an imbalance between excitatory and inhibitory metabolism in ASD patients. However, inconsistent results across studies and brain regions suggest a complex underlying phenomenon. LAY SUMMARY: Adults of the autism spectrum exhibit elevated levels of the inhibitory neurotransmitter GABA in the left dorsolateral prefrontal cortex. This finding supports the hypothesis of an imbalance between excitatory and inhibitory equilibrium in patients with autism spectrum disorders. En ligne : http://dx.doi.org/10.1002/aur.2740 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476

Retinal Thinning in Adults with Autism Spectrum Disorder / Evelyn B. N. FRIEDEL in Journal of Autism and Developmental Disorders, 54-3 (March 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-3 (March 2024) . - p.1143-1156 Titre : Retinal Thinning in Adults with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Evelyn B. N. FRIEDEL, Auteur ; Ludger TEBARTZ VAN ELST, Auteur ; Mirjam SCHAFER, Auteur ; Simon MAIER, Auteur ; Kimon RUNGE, Auteur ; Sebastian KÜCHLIN, Auteur ; Michael REICH, Auteur ; Wolf A. LAGRÈZE, Auteur ; Jürgen KORNMEIER, Auteur ; Dieter EBERT, Auteur ; Dominique ENDRES, Auteur ; Katharina DOMSCHKE, Auteur ; Kathrin NICKEL, Auteur Article en page(s) : p.1143-1156 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Since the retina shares its embryological origin with the central nervous system, optical coherence tomography (OCT), an imaging technique frequently employed in ophthalmology to analyze the macula and intraretinal layer thicknesses and volumes, has recently become increasingly important in psychiatric research. We examined 34 autistic and 31 neurotypical adults (NT) using OCT. Autistic adults had reduced overall macular and outer nuclear layer (ONL) thickness and volume compared to NT. Both macular and ONL thickness showed significant inverse associations with the severity of autistic symptoms measured with the Social Responsiveness Scale 2 (SRS-2). Longitudinal studies across different age groups are required to clarify whether retinal changes may represent a possible trait marker. En ligne : https://doi.org/10.1007/s10803-022-05882-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=524 [article] Retinal Thinning in Adults with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Evelyn B. N. FRIEDEL, Auteur ; Ludger TEBARTZ VAN ELST, Auteur ; Mirjam SCHAFER, Auteur ; Simon MAIER, Auteur ; Kimon RUNGE, Auteur ; Sebastian KÜCHLIN, Auteur ; Michael REICH, Auteur ; Wolf A. LAGRÈZE, Auteur ; Jürgen KORNMEIER, Auteur ; Dieter EBERT, Auteur ; Dominique ENDRES, Auteur ; Katharina DOMSCHKE, Auteur ; Kathrin NICKEL, Auteur . - p.1143-1156. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-3 (March 2024) . - p.1143-1156 Index. décimale : PER Périodiques Résumé : Since the retina shares its embryological origin with the central nervous system, optical coherence tomography (OCT), an imaging technique frequently employed in ophthalmology to analyze the macula and intraretinal layer thicknesses and volumes, has recently become increasingly important in psychiatric research. We examined 34 autistic and 31 neurotypical adults (NT) using OCT. Autistic adults had reduced overall macular and outer nuclear layer (ONL) thickness and volume compared to NT. Both macular and ONL thickness showed significant inverse associations with the severity of autistic symptoms measured with the Social Responsiveness Scale 2 (SRS-2). Longitudinal studies across different age groups are required to clarify whether retinal changes may represent a possible trait marker. En ligne : https://doi.org/10.1007/s10803-022-05882-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=524

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