52 recherche sur le mot-clé 'Biomarker'

Biomarker development in Sturge-Weber syndrome / Siddharth S. GUPTA in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Biomarker development in Sturge-Weber syndrome Type de document : texte imprimé Auteurs : Siddharth S. GUPTA, Auteur ; Katharine E. JOSLYN, Auteur ; Kieran D. MCKENNEY, Auteur ; Anne M. COMI, Auteur Langues : Anglais (eng) Mots-clés : Humans  Sturge-Weber Syndrome/diagnosis/genetics/metabolism  Biomarkers/metabolism  Biomarker  EEG biomarkers  Gnaq  Mri  Neurocutaneous syndrome  Neuroimaging biomarkers  Qeeg  Sturge-Weber syndrome  Urine angiogenic factor  Vascular biomarkers  for publication: Not applicable. Competing interests: A.M.C. is an inventor on  patents related to the R183Q GNAQ mutation in SWS and to the use of cannabidiol  for the treatment of SWS  no funding has been received by her from these patents.  The remaining authors have no conflicts of interest to disclose. Index. décimale : PER Périodiques Résumé : Sturge-Weber Syndrome (SWS) is a congenital neurovascular disorder caused by a somatic mosaic mutation in the R183Q GNAQ gene and characterized by capillary-venous malformations of the brain, skin, and eyes. Clinical manifestations include facial port-wine birthmark, glaucoma, seizures, headache or migraine, hemiparesis, stroke or stroke-like episodes, developmental delay, behavioral problems, and hormonal deficiencies. SWS requires careful monitoring, management, and early identification to improve outcome and prevent neurological deterioration. Over the last 25 years, biomarkers have been developed to improve early diagnosis and prognosis and allow for the monitoring of clinical status and treatment response. Importantly, advancements in biomarker research may enable presymptomatic treatment for infants with SWS. This review summarizes current, ongoing, and potential future SWS biomarker studies. These biomarkers, in combination with clinical data, offer a rich source of data for rare disease research leveraging machine learning in future research. En ligne : https://dx.doi.org/10.1186/s11689-025-09640-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Biomarker development in Sturge-Weber syndrome [texte imprimé] / Siddharth S. GUPTA, Auteur ; Katharine E. JOSLYN, Auteur ; Kieran D. MCKENNEY, Auteur ; Anne M. COMI, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Sturge-Weber Syndrome/diagnosis/genetics/metabolism  Biomarkers/metabolism  Biomarker  EEG biomarkers  Gnaq  Mri  Neurocutaneous syndrome  Neuroimaging biomarkers  Qeeg  Sturge-Weber syndrome  Urine angiogenic factor  Vascular biomarkers  for publication: Not applicable. Competing interests: A.M.C. is an inventor on  patents related to the R183Q GNAQ mutation in SWS and to the use of cannabidiol  for the treatment of SWS  no funding has been received by her from these patents.  The remaining authors have no conflicts of interest to disclose. Index. décimale : PER Périodiques Résumé : Sturge-Weber Syndrome (SWS) is a congenital neurovascular disorder caused by a somatic mosaic mutation in the R183Q GNAQ gene and characterized by capillary-venous malformations of the brain, skin, and eyes. Clinical manifestations include facial port-wine birthmark, glaucoma, seizures, headache or migraine, hemiparesis, stroke or stroke-like episodes, developmental delay, behavioral problems, and hormonal deficiencies. SWS requires careful monitoring, management, and early identification to improve outcome and prevent neurological deterioration. Over the last 25 years, biomarkers have been developed to improve early diagnosis and prognosis and allow for the monitoring of clinical status and treatment response. Importantly, advancements in biomarker research may enable presymptomatic treatment for infants with SWS. This review summarizes current, ongoing, and potential future SWS biomarker studies. These biomarkers, in combination with clinical data, offer a rich source of data for rare disease research leveraging machine learning in future research. En ligne : https://dx.doi.org/10.1186/s11689-025-09640-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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 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] / 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 Auteurs : Martin G. FRASCH, Auteur ; Chao SHEN, Auteur ; Hau-Tieng WU, Auteur ; Alexander MUELLER, Auteur ; Emily NEUHAUS, Auteur ; Raphael A. 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] / Martin G. FRASCH, Auteur ; Chao SHEN, Auteur ; Hau-Tieng WU, Auteur ; Alexander MUELLER, Auteur ; Emily NEUHAUS, Auteur ; Raphael A. 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 / Michael 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 Auteurs : Michael S. SIDOROV, Auteur ; Gina M. DECK, Auteur ; Marjan DOLATSHAHI, Auteur ; Ronald L. THIBERT, Auteur ; Lynne M. BIRD, Auteur ; Catherine J. CHU, Auteur ; Benjamin 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] / Michael S. SIDOROV, Auteur ; Gina M. DECK, Auteur ; Marjan DOLATSHAHI, Auteur ; Ronald L. THIBERT, Auteur ; Lynne M. BIRD, Auteur ; Catherine J. CHU, Auteur ; Benjamin 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 / Antonio Gennaro 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 Auteurs : Antonio Gennaro NICOTERA, Auteur ; Randi J. HAGERMAN, Auteur ; Maria Vincenza CATANIA, Auteur ; Serafino BUONO, Auteur ; Santo DI NUOVO, Auteur ; Elisa Maria LIPRINO, Auteur ; Emanuela STRACUZZI, Auteur ; Stefania GIUSTO, Auteur ; Giuseppa DI VITA, Auteur ; Sebastiano Antonino 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] / Antonio Gennaro NICOTERA, Auteur ; Randi J. HAGERMAN, Auteur ; Maria Vincenza CATANIA, Auteur ; Serafino BUONO, Auteur ; Santo DI NUOVO, Auteur ; Elisa Maria LIPRINO, Auteur ; Emanuela STRACUZZI, Auteur ; Stefania GIUSTO, Auteur ; Giuseppa DI VITA, Auteur ; Sebastiano Antonino 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 / Tessel BAZELMANS in Autism Research, 12-1 (January 2019)  

Permalink

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 / Heng DAI in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Permalink

Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome / Olivier PERCHE in Journal of Neurodevelopmental Disorders, 13 (2021)  

Permalink

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

Permalink

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

Permalink