Autism genetics: strategies, challenges, and opportunities / Brian J. O'ROAK in Autism Research, 1-1 (February 2008)  

Public ISBD [article]  inAutism Research > 1-1 (February 2008) . - p.4-17 Titre : Autism genetics: strategies, challenges, and opportunities Type de document : Texte imprimé et/ou numérique Auteurs : Brian J. O'ROAK, Auteur ; Matthew W. STATE, Auteur Année de publication : 2008 Article en page(s) : p.4-17 Langues : Anglais (eng) Mots-clés : autism genetics linkage association gene-discovery Index. décimale : PER Périodiques Résumé : Although genes have long been appreciated to play a critical role in determining the risk for pervasive developmental disorders, the specific transcripts contributing to autism spectrum disorders (ASD) have been quite difficult to characterize. However, recent findings are now providing the first insights into the molecular mechanisms underlying these syndromes and have begun to shed light on the allelic architecture of ASD. In this article, we address what is known about the relative contributions of various types of genetic variation to ASD, consider the obstacles facing gene discovery in this complex disorder, and evaluate the common methodologies employed to address these issues, including linkage, molecular and array-based cytogenetics, and association strategies. We review the current literature, highlighting recent findings implicating both rare mutations and common genetic polymorphisms in the etiology of autism. Finally, we describe key advances in genomic technologies that are transforming all areas of human genetics and consider both the opportunities and challenges for autism research posed by these rapid changes. En ligne : http://dx.doi.org/10.1002/aur.3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=929 [article] Autism genetics: strategies, challenges, and opportunities [Texte imprimé et/ou numérique] / Brian J. O'ROAK, Auteur ; Matthew W. STATE, Auteur . - 2008 . - p.4-17. Langues : Anglais (eng) in Autism Research > 1-1 (February 2008) . - p.4-17 Mots-clés : autism genetics linkage association gene-discovery Index. décimale : PER Périodiques Résumé : Although genes have long been appreciated to play a critical role in determining the risk for pervasive developmental disorders, the specific transcripts contributing to autism spectrum disorders (ASD) have been quite difficult to characterize. However, recent findings are now providing the first insights into the molecular mechanisms underlying these syndromes and have begun to shed light on the allelic architecture of ASD. In this article, we address what is known about the relative contributions of various types of genetic variation to ASD, consider the obstacles facing gene discovery in this complex disorder, and evaluate the common methodologies employed to address these issues, including linkage, molecular and array-based cytogenetics, and association strategies. We review the current literature, highlighting recent findings implicating both rare mutations and common genetic polymorphisms in the etiology of autism. Finally, we describe key advances in genomic technologies that are transforming all areas of human genetics and consider both the opportunities and challenges for autism research posed by these rapid changes. En ligne : http://dx.doi.org/10.1002/aur.3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=929

Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort / Eric FOMBONNE in Journal of Autism and Developmental Disorders, 52-8 (August 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3383-3398 Titre : Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort Type de document : Texte imprimé et/ou numérique Auteurs : Eric FOMBONNE, Auteur ; Leigh COPPOLA, Auteur ; Sarah MASTEL, Auteur ; Brian J. O'ROAK, Auteur Article en page(s) : p.3383-3398 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder/diagnosis  Caregivers  Child  Cohort Studies  Databases, Factual  Female  Humans  Male  Adults  Autism  Birth weight  Electronic medical records  Intellectual disability  Language delay  Parental report  Regression  SPARK cohort  Sex differences  Validity Index. décimale : PER Périodiques Résumé : The SPARK cohort was established to facilitate recruitment in studies of large numbers of participants with autism spectrum disorder (ASD). Online registration requires participants to have received a lifetime professional diagnosis by health or school providers although diagnoses are not independently verified. This study was set to examine the validity of self- and caregiver-reported autism diagnoses. Electronic medical records (EMR) of 254 SPARK participants (77.6% male, age 10.7 years) were abstracted. Using two different methods, confirmation of ASD diagnosis in EMRs was obtained in 98.8% of cases. Core clinical features recorded in EMRs were typical of autism samples and showed very good agreement with SPARK cohort data, providing further evidence of the validity of clinical information in the SPARK database. En ligne : http://dx.doi.org/10.1007/s10803-021-05218-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485 [article] Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort [Texte imprimé et/ou numérique] / Eric FOMBONNE, Auteur ; Leigh COPPOLA, Auteur ; Sarah MASTEL, Auteur ; Brian J. O'ROAK, Auteur . - p.3383-3398. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3383-3398 Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder/diagnosis  Caregivers  Child  Cohort Studies  Databases, Factual  Female  Humans  Male  Adults  Autism  Birth weight  Electronic medical records  Intellectual disability  Language delay  Parental report  Regression  SPARK cohort  Sex differences  Validity Index. décimale : PER Périodiques Résumé : The SPARK cohort was established to facilitate recruitment in studies of large numbers of participants with autism spectrum disorder (ASD). Online registration requires participants to have received a lifetime professional diagnosis by health or school providers although diagnoses are not independently verified. This study was set to examine the validity of self- and caregiver-reported autism diagnoses. Electronic medical records (EMR) of 254 SPARK participants (77.6% male, age 10.7 years) were abstracted. Using two different methods, confirmation of ASD diagnosis in EMRs was obtained in 98.8% of cases. Core clinical features recorded in EMRs were typical of autism samples and showed very good agreement with SPARK cohort data, providing further evidence of the validity of clinical information in the SPARK database. En ligne : http://dx.doi.org/10.1007/s10803-021-05218-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485

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