42 recherche sur le mot-clé 'Biomarker'

Are Urinary Porphyrins a Valid Diagnostic Biomarker of Autism Spectrum Disorder? / Kerrie SHANDLEY in Autism Research, 7-5 (October 2014)  

Public ISBD [article]  inAutism Research > 7-5 (October 2014) . - p.535-542 Titre : Are Urinary Porphyrins a Valid Diagnostic Biomarker of Autism Spectrum Disorder? Type de document : Texte imprimé et/ou numérique Auteurs : Kerrie SHANDLEY, Auteur ; David W. AUSTIN, Auteur ; Jahar L. BHOWMIK, Auteur Article en page(s) : p.535-542 Langues : Anglais (eng) Mots-clés : porphyrins  biomarker  ASD diagnosis  ASD severity  heavy metals  mercury Index. décimale : PER Périodiques Résumé : A fundamental challenge to the timely diagnosis of Autism Spectrum Disorder (ASD) is the reliance on the observation of a set of aberrant behavior. Consequently, the diagnostic process requires that the child reach an age where the behaviors would typically be exhibited. The identification of a reliable biological marker (biomarker) could be of considerable benefit to the diagnostic process. As a diagnostic biomarker, porphyrins present an attractive prospect as previous studies have reported consistent findings of children with ASD showing significant elevations in porphyrin levels in contrast to controls. Furthermore, there is some evidence that ASD severity may be associated with porphyrins, which would be a valuable characteristic of any ASD biomarker. Importantly, for practical use, porphyrins can be tested non-invasively via a sample of urine. The present study sought to investigate whether porphyrin profiles can reliably be used to (a) differentiate ASD cases from healthy controls; and (b) predict ASD severity. The study compared the porphyrin levels of three groups of children aged 2–6 years: Group 1—children diagnosed with ASD (n?=?70); Group 2—healthy, normally developing siblings of children diagnosed with ASD (n?=?36); and Group 3—healthy, normally developing children with no known blood relative diagnosed with ASD (n?=?54). The results of logistic regression analyses failed to find support for the hypotheses that porphyrin levels could be used as a valid tool to detect ASD cases or predict severity. Autism Res 2014, 7: 535–542. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1385 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241 [article] Are Urinary Porphyrins a Valid Diagnostic Biomarker of Autism Spectrum Disorder? [Texte imprimé et/ou numérique] / Kerrie SHANDLEY, Auteur ; David W. AUSTIN, Auteur ; Jahar L. BHOWMIK, Auteur . - p.535-542. Langues : Anglais (eng) in Autism Research > 7-5 (October 2014) . - p.535-542 Mots-clés : porphyrins  biomarker  ASD diagnosis  ASD severity  heavy metals  mercury Index. décimale : PER Périodiques Résumé : A fundamental challenge to the timely diagnosis of Autism Spectrum Disorder (ASD) is the reliance on the observation of a set of aberrant behavior. Consequently, the diagnostic process requires that the child reach an age where the behaviors would typically be exhibited. The identification of a reliable biological marker (biomarker) could be of considerable benefit to the diagnostic process. As a diagnostic biomarker, porphyrins present an attractive prospect as previous studies have reported consistent findings of children with ASD showing significant elevations in porphyrin levels in contrast to controls. Furthermore, there is some evidence that ASD severity may be associated with porphyrins, which would be a valuable characteristic of any ASD biomarker. Importantly, for practical use, porphyrins can be tested non-invasively via a sample of urine. The present study sought to investigate whether porphyrin profiles can reliably be used to (a) differentiate ASD cases from healthy controls; and (b) predict ASD severity. The study compared the porphyrin levels of three groups of children aged 2–6 years: Group 1—children diagnosed with ASD (n?=?70); Group 2—healthy, normally developing siblings of children diagnosed with ASD (n?=?36); and Group 3—healthy, normally developing children with no known blood relative diagnosed with ASD (n?=?54). The results of logistic regression analyses failed to find support for the hypotheses that porphyrin levels could be used as a valid tool to detect ASD cases or predict severity. Autism Res 2014, 7: 535–542. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1385 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241

Brief Report: Can a Composite Heart Rate Variability Biomarker Shed New Insights About Autism Spectrum Disorder in School-Aged Children? / Martin G. FRASCH in Journal of Autism and Developmental Disorders, 51-1 (January 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-1 (January 2021) . - p.346-356 Titre : Brief Report: Can a Composite Heart Rate Variability Biomarker Shed New Insights About Autism Spectrum Disorder in School-Aged Children? Type de document : Texte imprimé et/ou numérique Auteurs : Martin G. FRASCH, Auteur ; Chao SHEN, Auteur ; Hau-Tieng WU, Auteur ; Alexander MUELLER, Auteur ; Emily NEUHAUS, Auteur ; Raphael BERNIER, Auteur ; Dana KAMARA, Auteur ; Theodore P. BEAUCHAINE, Auteur Article en page(s) : p.346-356 Langues : Anglais (eng) Mots-clés : Biomarker  Electrocardiogram  Heart rate variability Index. décimale : PER Périodiques Résumé : Several studies show altered heart rate variability (HRV) in autism spectrum disorder (ASD), but findings are neither universal nor specific to ASD. We apply a set of linear and nonlinear HRV measures-including phase rectified signal averaging-to segments of resting ECG data collected from school-age children with ASD, age-matched typically developing controls, and children with other psychiatric conditions characterized by altered HRV (conduct disorder, depression). We use machine learning to identify time, frequency, and geometric signal-analytical domains that are specific to ASD (receiver operating curve area?=?0.89). This is the first study to differentiate children with ASD from other disorders characterized by altered HRV. Despite a small cohort and lack of external validation, results warrant larger prospective studies. En ligne : http://dx.doi.org/10.1007/s10803-020-04467-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438 [article] Brief Report: Can a Composite Heart Rate Variability Biomarker Shed New Insights About Autism Spectrum Disorder in School-Aged Children? [Texte imprimé et/ou numérique] / Martin G. FRASCH, Auteur ; Chao SHEN, Auteur ; Hau-Tieng WU, Auteur ; Alexander MUELLER, Auteur ; Emily NEUHAUS, Auteur ; Raphael BERNIER, Auteur ; Dana KAMARA, Auteur ; Theodore P. BEAUCHAINE, Auteur . - p.346-356. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-1 (January 2021) . - p.346-356 Mots-clés : Biomarker  Electrocardiogram  Heart rate variability Index. décimale : PER Périodiques Résumé : Several studies show altered heart rate variability (HRV) in autism spectrum disorder (ASD), but findings are neither universal nor specific to ASD. We apply a set of linear and nonlinear HRV measures-including phase rectified signal averaging-to segments of resting ECG data collected from school-age children with ASD, age-matched typically developing controls, and children with other psychiatric conditions characterized by altered HRV (conduct disorder, depression). We use machine learning to identify time, frequency, and geometric signal-analytical domains that are specific to ASD (receiver operating curve area?=?0.89). This is the first study to differentiate children with ASD from other disorders characterized by altered HRV. Despite a small cohort and lack of external validation, results warrant larger prospective studies. En ligne : http://dx.doi.org/10.1007/s10803-020-04467-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis / M. S. SIDOROV in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.17 Titre : Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis Type de document : Texte imprimé et/ou numérique Auteurs : M. S. SIDOROV, Auteur ; G. M. DECK, Auteur ; M. DOLATSHAHI, Auteur ; R. L. THIBERT, Auteur ; L. M. BIRD, Auteur ; C. J. CHU, Auteur ; B. D. PHILPOT, Auteur Article en page(s) : p.17 Langues : Anglais (eng) Mots-clés : Angelman syndrome  Biomarker  Delta  Eeg  Mouse model  Outcome measure  Ube3a Index. décimale : PER Périodiques Résumé : BACKGROUND: Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be rigorously quantified in the clinical population or validated in a preclinical model. Here, we sought to quantitatively measure delta rhythmicity and evaluate its fidelity as a biomarker. METHODS: We quantified delta oscillations in mouse and human using parallel spectral analysis methods and measured regional, state-specific, and developmental changes in delta rhythms in a patient population. RESULTS: Delta power was broadly increased and more dynamic in both the Angelman syndrome mouse model, relative to wild-type littermates, and in children with Angelman syndrome, relative to age-matched neurotypical controls. Enhanced delta oscillations in children with Angelman syndrome were present during wakefulness and sleep, were generalized across the neocortex, and were more pronounced at earlier ages. CONCLUSIONS: Delta rhythmicity phenotypes can serve as reliable biomarkers for Angelman syndrome in both preclinical and clinical settings. En ligne : http://dx.doi.org/10.1186/s11689-017-9195-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis [Texte imprimé et/ou numérique] / M. S. SIDOROV, Auteur ; G. M. DECK, Auteur ; M. DOLATSHAHI, Auteur ; R. L. THIBERT, Auteur ; L. M. BIRD, Auteur ; C. J. CHU, Auteur ; B. D. PHILPOT, Auteur . - p.17. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.17 Mots-clés : Angelman syndrome  Biomarker  Delta  Eeg  Mouse model  Outcome measure  Ube3a Index. décimale : PER Périodiques Résumé : BACKGROUND: Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be rigorously quantified in the clinical population or validated in a preclinical model. Here, we sought to quantitatively measure delta rhythmicity and evaluate its fidelity as a biomarker. METHODS: We quantified delta oscillations in mouse and human using parallel spectral analysis methods and measured regional, state-specific, and developmental changes in delta rhythms in a patient population. RESULTS: Delta power was broadly increased and more dynamic in both the Angelman syndrome mouse model, relative to wild-type littermates, and in children with Angelman syndrome, relative to age-matched neurotypical controls. Enhanced delta oscillations in children with Angelman syndrome were present during wakefulness and sleep, were generalized across the neocortex, and were more pronounced at earlier ages. CONCLUSIONS: Delta rhythmicity phenotypes can serve as reliable biomarkers for Angelman syndrome in both preclinical and clinical settings. En ligne : http://dx.doi.org/10.1186/s11689-017-9195-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study / A. G. NICOTERA in Journal of Autism and Developmental Disorders, 49-6 (June 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2337-2347 Titre : EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study Type de document : Texte imprimé et/ou numérique Auteurs : A. G. NICOTERA, Auteur ; Randi J. HAGERMAN, Auteur ; M. V. CATANIA, Auteur ; Serafino BUONO, Auteur ; S. DI NUOVO, Auteur ; E. M. LIPRINO, Auteur ; E. STRACUZZI, Auteur ; S. GIUSTO, Auteur ; G. DI VITA, Auteur ; S. A. MUSUMECI, Auteur Article en page(s) : p.2337-2347 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Biomarker  Epileptiform abnormalities  Hyperactivity  Phenotype Index. décimale : PER Périodiques Résumé : To date, the phenotypic significance of EEG abnormalities in patients with ASD is unclear. In a population affected by ASD we aimed to evaluate: the phenotypic characteristics; the prevalence of EEG abnormalities; the potential correlations between EEG abnormalities and behavioral and cognitive variables. Sixty-nine patients with ASD underwent cognitive or developmental testing, language assessment, and adaptive behavior skills evaluation as well as sleep/wake EEG recording. EEG abnormalities were found in 39.13% of patients. EEG abnormalities correlated with autism severity, hyperactivity, anger outbursts, aggression, negative or destructive behavior, motor stereotypies, intellectual disability, language impairment and self-harm. Our findings confirmed that EEG abnormalities are present in the ASD population and correlate with several associated phenotypic features. En ligne : https://dx.doi.org/10.1007/s10803-019-03908-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 [article] EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study [Texte imprimé et/ou numérique] / A. G. NICOTERA, Auteur ; Randi J. HAGERMAN, Auteur ; M. V. CATANIA, Auteur ; Serafino BUONO, Auteur ; S. DI NUOVO, Auteur ; E. M. LIPRINO, Auteur ; E. STRACUZZI, Auteur ; S. GIUSTO, Auteur ; G. DI VITA, Auteur ; S. A. MUSUMECI, Auteur . - p.2337-2347. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2337-2347 Mots-clés : Autism spectrum disorder  Biomarker  Epileptiform abnormalities  Hyperactivity  Phenotype Index. décimale : PER Périodiques Résumé : To date, the phenotypic significance of EEG abnormalities in patients with ASD is unclear. In a population affected by ASD we aimed to evaluate: the phenotypic characteristics; the prevalence of EEG abnormalities; the potential correlations between EEG abnormalities and behavioral and cognitive variables. Sixty-nine patients with ASD underwent cognitive or developmental testing, language assessment, and adaptive behavior skills evaluation as well as sleep/wake EEG recording. EEG abnormalities were found in 39.13% of patients. EEG abnormalities correlated with autism severity, hyperactivity, anger outbursts, aggression, negative or destructive behavior, motor stereotypies, intellectual disability, language impairment and self-harm. Our findings confirmed that EEG abnormalities are present in the ASD population and correlate with several associated phenotypic features. En ligne : https://dx.doi.org/10.1007/s10803-019-03908-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400

Heart rate mean and variability as a biomarker for phenotypic variation in preschoolers with autism spectrum disorder / T. BAZELMANS in Autism Research, 12-1 (January 2019)  

Public ISBD [article]  inAutism Research > 12-1 (January 2019) . - p.39-52 Titre : Heart rate mean and variability as a biomarker for phenotypic variation in preschoolers with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : T. BAZELMANS, Auteur ; E. J. H. JONES, Auteur ; S. GHODS, Auteur ; S. CORRIGAN, Auteur ; K. TOTH, Auteur ; Tony CHARMAN, Auteur ; S. J. WEBB, Auteur Article en page(s) : p.39-52 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  autonomic control  biomarker  cognition  heart rate  language  reliability Index. décimale : PER Périodiques Résumé : Interest in autonomic arousal in autism spectrum disorder (ASD) is increasing; however, reliability of these measures in ASD is unknown, and previously reported associations with social and cognitive abilities are inconsistent. This study assesses heart rate (HR) and HR variability (HRV) in preschoolers with ASD or typical development (TD) while they passively watched naturalistic videos. Measurement reliability, group differences, and the relationship with social and cognitive abilities were evaluated. Seventy one ASD and 66 TD children (2-4 years) provided cardiac data from two sessions. Test-retest intraclass correlations of HR and HRV over a 3-week period were moderate to good in both groups. Groups did not differ in mean level of HR or HRV. Intra-individual variability of HR between video segments within a session was higher in the ASD group, but intraclass correlations of this metric were low. Higher HR related to better language skills in TD children, but not after accounting for age and nonverbal ability. Higher HRV related to better expressive and receptive language in ASD children after controlling for age and nonverbal ability. HR/HRV were not related to social or executive functioning skills and did not explain any additional variance in abilities at a 12-month follow-up visit. In summary, variation in language abilities is associated with HR in the TD group and HRV in the ASD group. While preliminary, these results are promising for consideration of autonomic control as a biomarker for individual differences in ASD and may help us understand the mechanisms that contribute to communication skills. Autism Research 2019, 12: 39-52. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Cardiac activity, such as heart rate and heart rate variability, is linked to a wide range of psychological functions. This study shows that there is an association between heart rate and heart rate variability and language skills in young children with autism spectrum disorder (ASD). These results may help us understand what underlies individual differences in developmental abilities in young children with ASD. En ligne : http://dx.doi.org/10.1002/aur.1982 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376 [article] Heart rate mean and variability as a biomarker for phenotypic variation in preschoolers with autism spectrum disorder [Texte imprimé et/ou numérique] / T. BAZELMANS, Auteur ; E. J. H. JONES, Auteur ; S. GHODS, Auteur ; S. CORRIGAN, Auteur ; K. TOTH, Auteur ; Tony CHARMAN, Auteur ; S. J. WEBB, Auteur . - p.39-52. Langues : Anglais (eng) in Autism Research > 12-1 (January 2019) . - p.39-52 Mots-clés : autism spectrum disorder  autonomic control  biomarker  cognition  heart rate  language  reliability Index. décimale : PER Périodiques Résumé : Interest in autonomic arousal in autism spectrum disorder (ASD) is increasing; however, reliability of these measures in ASD is unknown, and previously reported associations with social and cognitive abilities are inconsistent. This study assesses heart rate (HR) and HR variability (HRV) in preschoolers with ASD or typical development (TD) while they passively watched naturalistic videos. Measurement reliability, group differences, and the relationship with social and cognitive abilities were evaluated. Seventy one ASD and 66 TD children (2-4 years) provided cardiac data from two sessions. Test-retest intraclass correlations of HR and HRV over a 3-week period were moderate to good in both groups. Groups did not differ in mean level of HR or HRV. Intra-individual variability of HR between video segments within a session was higher in the ASD group, but intraclass correlations of this metric were low. Higher HR related to better language skills in TD children, but not after accounting for age and nonverbal ability. Higher HRV related to better expressive and receptive language in ASD children after controlling for age and nonverbal ability. HR/HRV were not related to social or executive functioning skills and did not explain any additional variance in abilities at a 12-month follow-up visit. In summary, variation in language abilities is associated with HR in the TD group and HRV in the ASD group. While preliminary, these results are promising for consideration of autonomic control as a biomarker for individual differences in ASD and may help us understand the mechanisms that contribute to communication skills. Autism Research 2019, 12: 39-52. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Cardiac activity, such as heart rate and heart rate variability, is linked to a wide range of psychological functions. This study shows that there is an association between heart rate and heart rate variability and language skills in young children with autism spectrum disorder (ASD). These results may help us understand what underlies individual differences in developmental abilities in young children with ASD. En ligne : http://dx.doi.org/10.1002/aur.1982 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376

Is dopamine transporter-mediated dopaminergic signaling in the retina a noninvasive biomarker for attention-deficit/ hyperactivity disorder? A study in a novel dopamine transporter variant Val559 transgenic mouse model / H. DAI in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep / Yuval LEVIN in Autism Research, 15-6 (June 2022)  

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Increased expression of the PI3K catalytic subunit p110delta underlies elevated S6 phosphorylation and protein synthesis in an individual with autism from a multiplex family / A. C. POOPAL in Molecular Autism, 7 (2016)  

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Autism Biomarkers: Challenges, Pitfalls and Possibilities / George M. ANDERSON in Journal of Autism and Developmental Disorders, 45-4 (April 2015)  

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Facial expression recognition as a candidate marker for autism spectrum disorder: how frequent and severe are deficits? / E. LOTH in Molecular Autism, 9 (2018)  

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