79 recherche sur le mot-clé 'Biomarkers'

Biomarkers for autism spectrum disorder: opportunities for magnetoencephalography (MEG) / Timothy P.L. ROBERTS in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Biomarkers for autism spectrum disorder: opportunities for magnetoencephalography (MEG) Type de document : texte imprimé Auteurs : Timothy P.L. ROBERTS, Auteur ; Emily S. KUSCHNER, Auteur ; J. Christopher EDGAR, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Biomarkers  Brain/diagnostic imaging  Child  Evoked Potentials, Auditory  Humans  Magnetoencephalography Index. décimale : PER Périodiques Résumé : This paper reviews a candidate biomarker for ASD, the M50 auditory evoked response component, detected by magnetoencephalography (MEG) and presents a position on the roles and opportunities for such a biomarker, as well as converging evidence from allied imaging techniques (magnetic resonance imaging, MRI and spectroscopy, MRS). Data is presented on prolonged M50 latencies in ASD as well as extension to include children with ASD with significant language and cognitive impairments in whom M50 latency delays are exacerbated. Modeling of the M50 latency by consideration of the properties of auditory pathway white matter is shown to be successful in typical development but challenged by heterogeneity in ASD; this, however, is capitalized upon to identify a distinct subpopulation of children with ASD whose M50 latencies lie well outside the range of values predictable from the typically developing model. Interestingly, this subpopulation is characterized by low levels of the inhibitory neurotransmitter GABA. Following from this, we discuss a potential use of the M50 latency in indicating "target engagement" acutely with administration of a GABA-B agonist, potentially distinguishing "responders" from "non-responders" with the implication of optimizing inclusion for clinical trials of such agents. Implications for future application, including potential evaluation of infants with genetic risk factors, are discussed. As such, the broad scope of potential of a representative candidate biological marker, the M50 latency, is introduced along with potential future applications.This paper outlines a strategy for understanding brain dysfunction in individuals with intellectual and developmental disabilities (IDD). It is proposed that a multimodal approach (collection of brain structure, chemistry, and neuronal functional data) will identify IDD subpopulations who share a common disease pathway, and thus identify individuals with IDD who might ultimately benefit from specific treatments. After briefly demonstrating the need and potential for scope, examples from studies examining brain function and structure in children with autism spectrum disorder (ASD) illustrate how measures of brain neuronal function (from magnetoencephalography, MEG), brain structure (from magnetic resonance imaging, MRI, especially diffusion MRI), and brain chemistry (MR spectroscopy) can help us better understand the heterogeneity in ASD and form the basis of multivariate biological markers (biomarkers) useable to define clinical subpopulations. Similar approaches can be applied to understand brain dysfunction in neurodevelopmental disorders (NDD) in general. In large part, this paper represents our endeavors as part of the CHOP/Penn NICHD-funded intellectual and developmental disabilities research center (IDDRC) over the past decade. En ligne : https://dx.doi.org/10.1186/s11689-021-09385-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Biomarkers for autism spectrum disorder: opportunities for magnetoencephalography (MEG) [texte imprimé] / Timothy P.L. ROBERTS, Auteur ; Emily S. KUSCHNER, Auteur ; J. Christopher EDGAR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/diagnosis  Biomarkers  Brain/diagnostic imaging  Child  Evoked Potentials, Auditory  Humans  Magnetoencephalography Index. décimale : PER Périodiques Résumé : This paper reviews a candidate biomarker for ASD, the M50 auditory evoked response component, detected by magnetoencephalography (MEG) and presents a position on the roles and opportunities for such a biomarker, as well as converging evidence from allied imaging techniques (magnetic resonance imaging, MRI and spectroscopy, MRS). Data is presented on prolonged M50 latencies in ASD as well as extension to include children with ASD with significant language and cognitive impairments in whom M50 latency delays are exacerbated. Modeling of the M50 latency by consideration of the properties of auditory pathway white matter is shown to be successful in typical development but challenged by heterogeneity in ASD; this, however, is capitalized upon to identify a distinct subpopulation of children with ASD whose M50 latencies lie well outside the range of values predictable from the typically developing model. Interestingly, this subpopulation is characterized by low levels of the inhibitory neurotransmitter GABA. Following from this, we discuss a potential use of the M50 latency in indicating "target engagement" acutely with administration of a GABA-B agonist, potentially distinguishing "responders" from "non-responders" with the implication of optimizing inclusion for clinical trials of such agents. Implications for future application, including potential evaluation of infants with genetic risk factors, are discussed. As such, the broad scope of potential of a representative candidate biological marker, the M50 latency, is introduced along with potential future applications.This paper outlines a strategy for understanding brain dysfunction in individuals with intellectual and developmental disabilities (IDD). It is proposed that a multimodal approach (collection of brain structure, chemistry, and neuronal functional data) will identify IDD subpopulations who share a common disease pathway, and thus identify individuals with IDD who might ultimately benefit from specific treatments. After briefly demonstrating the need and potential for scope, examples from studies examining brain function and structure in children with autism spectrum disorder (ASD) illustrate how measures of brain neuronal function (from magnetoencephalography, MEG), brain structure (from magnetic resonance imaging, MRI, especially diffusion MRI), and brain chemistry (MR spectroscopy) can help us better understand the heterogeneity in ASD and form the basis of multivariate biological markers (biomarkers) useable to define clinical subpopulations. Similar approaches can be applied to understand brain dysfunction in neurodevelopmental disorders (NDD) in general. In large part, this paper represents our endeavors as part of the CHOP/Penn NICHD-funded intellectual and developmental disabilities research center (IDDRC) over the past decade. En ligne : https://dx.doi.org/10.1186/s11689-021-09385-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

DNA methylation biomarkers of intellectual/developmental disability across the lifespan / Janine M. LASALLE in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) 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 [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

Evidence-based use of scalable biomarkers to increase diagnostic efficiency and decrease the lifetime costs of autism / Thomas W. FRAZIER in Autism Research, 14-6 (June 2021)  

Public ISBD [article]  inAutism Research > 14-6 (June 2021) . - p.1271-1283 Titre : Evidence-based use of scalable biomarkers to increase diagnostic efficiency and decrease the lifetime costs of autism Type de document : texte imprimé Auteurs : Thomas W. FRAZIER, Auteur ; Daniel L. COURY, Auteur ; Kristin SOHL, Auteur ; Kayla E. WAGNER, Auteur ; Richard UHLIG, Auteur ; Steven D. HICKS, Auteur ; Frank A. MIDDLETON, Auteur Article en page(s) : p.1271-1283 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Biomarkers  Child  Early Diagnosis  Humans  Mass Screening  United States  autism spectrum disorder  biomarkers  cost analysis  early diagnosis  evidence-based assessment  developer of the eye tracking test that was used in the EBM analysis. Thomas W.  Frazier has received federal funding or research support from, acted as a consultant  to, received travel support from, and/or received a speaker's honorarium from  Quadrant Biosciences, Impel NeuroPharma, F. Hoffmann?La Roche AG Pharmaceuticals,  the Cole Family Research Fund, Simons Foundation, Ingalls Foundation, Forest  Laboratories, Ecoeos, IntegraGen, Kugona LLC, Shire Development, Bristol?Myers  Squibb, Roche Pharma, National Institutes of Health, and the Brain and Behavior  Research Foundation and has an investor stake in AutismEYES LLC. Steven D. Hicks and  Frank A. Middleton are co?developers of the saliva RNA based autism test that is  used in the EBM analysis, and members of the Clinical and Scientific Advisory Boards  of Quadrant Biosciences. Kristin Sohl is director of ECHO Autism and both Kristin  Sohl and Daniel L. Coury are a member of the Clinical Advisory Board of Quadrant  Biosciences. Daniel L. Coury has received federal funding or research support from  National Institutes of Health, GW Biosciences, Neurim, Stemina Biosciences, and  Stalicla SA  and acted as a consultant to BioRosa, Cognoa, GW Biosciences, and  Stalicla SA. Kayla E. Wagner and Richard Uhlig are employees of Quadrant  Biosciences. Quadrant Biosciences holds patent rights and exclusive sales rights for  the Clarifi ASD saliva test. Index. décimale : PER Périodiques Résumé : Challenges associated with the current screening and diagnostic process for autism spectrum disorder (ASD) in the US cause a significant delay in the initiation of evidence-based interventions at an early age when treatments are most effective. The present study shows how implementing a second-order diagnostic measure to high risk cases initially flagged positive from screening tools can further inform clinical judgment and substantially improve early identification. We use two example measures for the purposes of this demonstration; a saliva test and eye-tracking technology, both scalable and easy-to-implement biomarkers recently introduced in ASD research. Results of the current cost-savings analysis indicate that lifetime societal cost savings in special education, medical and residential care are estimated to be nearly $580,000 per ASD child, with annual cost savings in education exceeding $13.3 billion, and annual cost savings in medical and residential care exceeding $23.8 billion (of these, nearly $11.2 billion are attributable to Medicaid). These savings total more than $37 billion/year in societal savings in the US. Initiating appropriate interventions faster and reducing the number of unnecessary diagnostic evaluations can decrease the lifetime costs of ASD to society. We demonstrate the value of implementing a scalable highly accurate diagnostic in terms of cost savings to the US. LAY SUMMARY: This paper demonstrates how biomarkers with high accuracy for detecting autism spectrum disorder (ASD) could be used to increase the efficiency of early diagnosis. Results also show that, if more children with ASD are identified early and referred for early intervention services, the system would realize substantial costs savings across the lifespan. En ligne : http://dx.doi.org/10.1002/aur.2498 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 [article] Evidence-based use of scalable biomarkers to increase diagnostic efficiency and decrease the lifetime costs of autism [texte imprimé] / Thomas W. FRAZIER, Auteur ; Daniel L. COURY, Auteur ; Kristin SOHL, Auteur ; Kayla E. WAGNER, Auteur ; Richard UHLIG, Auteur ; Steven D. HICKS, Auteur ; Frank A. MIDDLETON, Auteur . - p.1271-1283. Langues : Anglais (eng) in Autism Research > 14-6 (June 2021) . - p.1271-1283 Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Biomarkers  Child  Early Diagnosis  Humans  Mass Screening  United States  autism spectrum disorder  biomarkers  cost analysis  early diagnosis  evidence-based assessment  developer of the eye tracking test that was used in the EBM analysis. Thomas W.  Frazier has received federal funding or research support from, acted as a consultant  to, received travel support from, and/or received a speaker's honorarium from  Quadrant Biosciences, Impel NeuroPharma, F. Hoffmann?La Roche AG Pharmaceuticals,  the Cole Family Research Fund, Simons Foundation, Ingalls Foundation, Forest  Laboratories, Ecoeos, IntegraGen, Kugona LLC, Shire Development, Bristol?Myers  Squibb, Roche Pharma, National Institutes of Health, and the Brain and Behavior  Research Foundation and has an investor stake in AutismEYES LLC. Steven D. Hicks and  Frank A. Middleton are co?developers of the saliva RNA based autism test that is  used in the EBM analysis, and members of the Clinical and Scientific Advisory Boards  of Quadrant Biosciences. Kristin Sohl is director of ECHO Autism and both Kristin  Sohl and Daniel L. Coury are a member of the Clinical Advisory Board of Quadrant  Biosciences. Daniel L. Coury has received federal funding or research support from  National Institutes of Health, GW Biosciences, Neurim, Stemina Biosciences, and  Stalicla SA  and acted as a consultant to BioRosa, Cognoa, GW Biosciences, and  Stalicla SA. Kayla E. Wagner and Richard Uhlig are employees of Quadrant  Biosciences. Quadrant Biosciences holds patent rights and exclusive sales rights for  the Clarifi ASD saliva test. Index. décimale : PER Périodiques Résumé : Challenges associated with the current screening and diagnostic process for autism spectrum disorder (ASD) in the US cause a significant delay in the initiation of evidence-based interventions at an early age when treatments are most effective. The present study shows how implementing a second-order diagnostic measure to high risk cases initially flagged positive from screening tools can further inform clinical judgment and substantially improve early identification. We use two example measures for the purposes of this demonstration; a saliva test and eye-tracking technology, both scalable and easy-to-implement biomarkers recently introduced in ASD research. Results of the current cost-savings analysis indicate that lifetime societal cost savings in special education, medical and residential care are estimated to be nearly $580,000 per ASD child, with annual cost savings in education exceeding $13.3 billion, and annual cost savings in medical and residential care exceeding $23.8 billion (of these, nearly $11.2 billion are attributable to Medicaid). These savings total more than $37 billion/year in societal savings in the US. Initiating appropriate interventions faster and reducing the number of unnecessary diagnostic evaluations can decrease the lifetime costs of ASD to society. We demonstrate the value of implementing a scalable highly accurate diagnostic in terms of cost savings to the US. LAY SUMMARY: This paper demonstrates how biomarkers with high accuracy for detecting autism spectrum disorder (ASD) could be used to increase the efficiency of early diagnosis. Results also show that, if more children with ASD are identified early and referred for early intervention services, the system would realize substantial costs savings across the lifespan. En ligne : http://dx.doi.org/10.1002/aur.2498 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449

Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models / Levi KASTER in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models Type de document : texte imprimé Auteurs : Levi KASTER, Auteur ; Ethan HILLIS, Auteur ; Inez Y. OH, Auteur ; Bhooma R. ARAVAMUTHAN, Auteur ; Virginia C. LANZOTTI, Auteur ; Casey R. VICKSTROM, Auteur ; BRAIN GENE REGISTRY CONSORTIUM, Auteur ; Christina A. GURNETT, Auteur ; Philip R.O. PAYNE, Auteur ; Aditi GUPTA, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Child  Child, Preschool  Female  Humans  Male  Young Adult  Biomarkers  Cerebral Palsy/physiopathology/diagnosis  Developmental Disabilities/physiopathology/diagnosis  Electronic Health Records  Intellectual Disability/physiopathology/diagnosis  Large Language Models  Natural Language Processing  Registries  Electronic health records  Functional biomarkers  Large language models  Neurodevelopmental disorders  recruited specifically for this study. This work constitutes secondary use of  data approved by the Washington University in St. Louis IRB (protocols #202010013  [Brain Gene Registry cohort] and #202309003 [cerebral palsy cohort]). Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Functional biomarkers in neurodevelopmental disorders, such as verbal and ambulatory abilities, are essential for clinical care and research activities. Treatment planning, intervention monitoring, and identifying comorbid conditions in individuals with intellectual and developmental disabilities (IDDs) rely on standardized assessments of these abilities. However, traditional assessments impose a burden on patients and providers, often leading to longitudinal inconsistencies and inequities due to evolving guidelines and associated time-cost. Therefore, this study aimed to develop an automated approach to classify verbal and ambulatory abilities from EHR data of IDD and cerebral palsy (CP) patients. Application of large language models (LLMs) to clinical notes, which are rich in longitudinal data, may provide a low-burden pipeline for extracting functional biomarkers efficiently and accurately. METHODS: Data from the multi-institutional National Brain Gene Registry (BGR) and a CP clinic cohort were utilized, comprising 3,245 notes from 125 individuals and 5,462 clinical notes from 260 individuals, respectively. Employing three LLMs-GPT-3.5 Turbo, GPT-4 Turbo, and GPT-4 Omni-we provided the models with a clinical note and utilized a detailed conversational format to prompt the models to answer: "Does the individual use any words?" and "Can the individual walk without aid?" These responses were evaluated against ground-truth abilities, which were established using neurobehavioral assessments collected for each dataset. RESULTS: LLM pipelines demonstrated high accuracy (weighted-F1 scores > .90) in predicting ambulatory ability for both cohorts, likely due to the consistent use of Gross Motor Functional Classification System (GMFCS) as a consistent ground-truth standard. However, verbal ability predictions were more accurate in the BGR cohort, likely due to higher adherence between the prompt and ground-truth assessment questions. While LLMs can be computationally expensive, analysis of our protocol affirmed the cost effectiveness when applied to select notes from the EHR. CONCLUSIONS: LLMs are effective at extracting functional biomarkers from EHR data and broadly generalizable across variable note-taking practices and institutions. Individual verbal and ambulatory ability were accurately extracted, supporting the method's ability to streamline workflows by offering automated, efficient data extraction for patient care and research. Future studies are needed to extend this methodology to additional populations and to demonstrate more granular functional data classification. En ligne : https://dx.doi.org/10.1186/s11689-025-09612-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models [texte imprimé] / Levi KASTER, Auteur ; Ethan HILLIS, Auteur ; Inez Y. OH, Auteur ; Bhooma R. ARAVAMUTHAN, Auteur ; Virginia C. LANZOTTI, Auteur ; Casey R. VICKSTROM, Auteur ; BRAIN GENE REGISTRY CONSORTIUM, Auteur ; Christina A. GURNETT, Auteur ; Philip R.O. PAYNE, Auteur ; Aditi GUPTA, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Adolescent  Adult  Child  Child, Preschool  Female  Humans  Male  Young Adult  Biomarkers  Cerebral Palsy/physiopathology/diagnosis  Developmental Disabilities/physiopathology/diagnosis  Electronic Health Records  Intellectual Disability/physiopathology/diagnosis  Large Language Models  Natural Language Processing  Registries  Electronic health records  Functional biomarkers  Large language models  Neurodevelopmental disorders  recruited specifically for this study. This work constitutes secondary use of  data approved by the Washington University in St. Louis IRB (protocols #202010013  [Brain Gene Registry cohort] and #202309003 [cerebral palsy cohort]). Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Functional biomarkers in neurodevelopmental disorders, such as verbal and ambulatory abilities, are essential for clinical care and research activities. Treatment planning, intervention monitoring, and identifying comorbid conditions in individuals with intellectual and developmental disabilities (IDDs) rely on standardized assessments of these abilities. However, traditional assessments impose a burden on patients and providers, often leading to longitudinal inconsistencies and inequities due to evolving guidelines and associated time-cost. Therefore, this study aimed to develop an automated approach to classify verbal and ambulatory abilities from EHR data of IDD and cerebral palsy (CP) patients. Application of large language models (LLMs) to clinical notes, which are rich in longitudinal data, may provide a low-burden pipeline for extracting functional biomarkers efficiently and accurately. METHODS: Data from the multi-institutional National Brain Gene Registry (BGR) and a CP clinic cohort were utilized, comprising 3,245 notes from 125 individuals and 5,462 clinical notes from 260 individuals, respectively. Employing three LLMs-GPT-3.5 Turbo, GPT-4 Turbo, and GPT-4 Omni-we provided the models with a clinical note and utilized a detailed conversational format to prompt the models to answer: "Does the individual use any words?" and "Can the individual walk without aid?" These responses were evaluated against ground-truth abilities, which were established using neurobehavioral assessments collected for each dataset. RESULTS: LLM pipelines demonstrated high accuracy (weighted-F1 scores > .90) in predicting ambulatory ability for both cohorts, likely due to the consistent use of Gross Motor Functional Classification System (GMFCS) as a consistent ground-truth standard. However, verbal ability predictions were more accurate in the BGR cohort, likely due to higher adherence between the prompt and ground-truth assessment questions. While LLMs can be computationally expensive, analysis of our protocol affirmed the cost effectiveness when applied to select notes from the EHR. CONCLUSIONS: LLMs are effective at extracting functional biomarkers from EHR data and broadly generalizable across variable note-taking practices and institutions. Individual verbal and ambulatory ability were accurately extracted, supporting the method's ability to streamline workflows by offering automated, efficient data extraction for patient care and research. Future studies are needed to extend this methodology to additional populations and to demonstrate more granular functional data classification. En ligne : https://dx.doi.org/10.1186/s11689-025-09612-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Developing Clinically Practicable Biomarkers for Autism Spectrum Disorder / James C. MCPARTLAND in Journal of Autism and Developmental Disorders, 47-9 (September 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-9 (September 2017) . - p.2935-2937 Titre : Developing Clinically Practicable Biomarkers for Autism Spectrum Disorder Type de document : texte imprimé Auteurs : James C. MCPARTLAND, Auteur Article en page(s) : p.2935-2937 Langues : Anglais (eng) Mots-clés : Biomarkers  Autism spectrum disorder  EEG Index. décimale : PER Périodiques Résumé : Despite significant advances in understanding the biological bases of autism spectrum disorder (ASD), the field remains primarily reliant on observational and parent report measures of behavior to guide clinical practice, conduct research, and evaluate intervention outcomes. There is a critical need for objective measures to more sensitively and validly quantify risk for ASD, ASD symptomatology, and its change in clinical trials. To maximize public health impact, such biomarkers must be cost effective and utilize accessible and scalable technologies. This letter describes concerns specific to the development of clinically practicable biomarkers for ASD and approaches to optimize understanding of these biomarkers through development of large-scale consortia and clinical networks. En ligne : https://doi.org/10.1007/s10803-017-3237-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=316 [article] Developing Clinically Practicable Biomarkers for Autism Spectrum Disorder [texte imprimé] / James C. MCPARTLAND, Auteur . - p.2935-2937. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-9 (September 2017) . - p.2935-2937 Mots-clés : Biomarkers  Autism spectrum disorder  EEG Index. décimale : PER Périodiques Résumé : Despite significant advances in understanding the biological bases of autism spectrum disorder (ASD), the field remains primarily reliant on observational and parent report measures of behavior to guide clinical practice, conduct research, and evaluate intervention outcomes. There is a critical need for objective measures to more sensitively and validly quantify risk for ASD, ASD symptomatology, and its change in clinical trials. To maximize public health impact, such biomarkers must be cost effective and utilize accessible and scalable technologies. This letter describes concerns specific to the development of clinically practicable biomarkers for ASD and approaches to optimize understanding of these biomarkers through development of large-scale consortia and clinical networks. En ligne : https://doi.org/10.1007/s10803-017-3237-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=316

Early Second Trimester Maternal Serum Steroid-Related Biomarkers Associated with Autism Spectrum Disorder / Deborah A. BILDER in Journal of Autism and Developmental Disorders, 49-11 (November 2019)  

Permalink

Editorial: Biomarkers in precision medicine for mental illnesses / Bradley S. PETERSON in Journal of Child Psychology and Psychiatry, 61-12 (December 2020)  

Permalink

Editorial: Data repositories, registries, and standards in the search for valid and reproducible biomarkers / Bradley S. PETERSON in Journal of Child Psychology and Psychiatry, 59-9 (September 2018)  

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