Clinician-caregiver informant discrepancy is associated with sex, diagnosis age, and intervention use among autistic children / Margaret A. AZU in Autism, 29-3 (March 2025)  

Public ISBD [article]  inAutism > 29-3 (March 2025) . - p.614-626 Titre : Clinician-caregiver informant discrepancy is associated with sex, diagnosis age, and intervention use among autistic children Type de document : Texte imprimé et/ou numérique Auteurs : Margaret A. AZU, Auteur ; Gloria T. HAN, Auteur ; Julie M. WOLF, Auteur ; Adam J. NAPLES, Auteur ; Katarzyna CHAWARSKA, Auteur ; Geraldine DAWSON, Auteur ; Raphael A. BERNIER, Auteur ; Shafali S. JESTE, Auteur ; James D. DZIURA, Auteur ; Sara J. WEBB, Auteur ; Catherine A. SUGAR, Auteur ; Frederick SHIC, Auteur ; James C. MCPARTLAND, Auteur Article en page(s) : p.614-626 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Clinician and caregiver reports of autism features are both integral to receiving an autism diagnosis and appropriate intervention, yet informant discrepancies are present in clinical practice and may differ by demographic characteristics of the child and ... En ligne : https://dx.doi.org/10.1177/13623613241279999 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=550 [article] Clinician-caregiver informant discrepancy is associated with sex, diagnosis age, and intervention use among autistic children [Texte imprimé et/ou numérique] / Margaret A. AZU, Auteur ; Gloria T. HAN, Auteur ; Julie M. WOLF, Auteur ; Adam J. NAPLES, Auteur ; Katarzyna CHAWARSKA, Auteur ; Geraldine DAWSON, Auteur ; Raphael A. BERNIER, Auteur ; Shafali S. JESTE, Auteur ; James D. DZIURA, Auteur ; Sara J. WEBB, Auteur ; Catherine A. SUGAR, Auteur ; Frederick SHIC, Auteur ; James C. MCPARTLAND, Auteur . - p.614-626. Langues : Anglais (eng) in Autism > 29-3 (March 2025) . - p.614-626 Index. décimale : PER Périodiques Résumé : Clinician and caregiver reports of autism features are both integral to receiving an autism diagnosis and appropriate intervention, yet informant discrepancies are present in clinical practice and may differ by demographic characteristics of the child and ... En ligne : https://dx.doi.org/10.1177/13623613241279999 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=550

Early autism symptoms in infants with tuberous sclerosis complex / Nicole M. MCDONALD in Autism Research, 10-12 (December 2017)  

Public ISBD [article]  inAutism Research > 10-12 (December 2017) . - p.1981-1990 Titre : Early autism symptoms in infants with tuberous sclerosis complex Type de document : Texte imprimé et/ou numérique Auteurs : Nicole M. MCDONALD, Auteur ; Kandice J. VARCIN, Auteur ; Rujuta BHATT, Auteur ; Joyce Y. WU, Auteur ; Mustafa SAHIN, Auteur ; Charles A. NELSON, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : p.1981-1990 Langues : Anglais (eng) Mots-clés : tuberous sclerosis complex  autism spectrum disorder  Autism Observation Scale for Infants  high-risk infants  early risk markers Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50–60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n?=?13) differed from TSC/no ASD infants (n?=?10) and infants with low developmental risk and no ASD (LR; n?=?21) in their social communication functioning during the first year of life. We measured early ASD symptoms with the Autism Observation Scale for Infants (AOSI) at 9 and 12 months of age. At both ages, infants in the TSC/ASD group had significantly higher AOSI total scores than infants in the TSC/no ASD and LR groups, which were not fully explained by differences in cognitive abilities. Several items on the AOSI at both ages were predictive of ASD outcome, particularly those representing core social communication deficits (e.g., social referencing). Our findings signal the need for further study of this population within the first year and provide strong justification for early identification and early intervention targeting social communication skills in infants with TSC. Autism Res 2017, 10: 1981–1990. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary We examined early signs of autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC), approximately 50% of whom will meet criteria for ASD by age 3. Infants with TSC and ASD showed deficits in social communication behaviors by 9 months of age that were clearly distinguishable from behaviors in infants with TSC who do not develop ASD and low risk infants. Results support the importance of early ASD screening and intervention for infants with TSC. En ligne : http://dx.doi.org/10.1002/aur.1846 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323 [article] Early autism symptoms in infants with tuberous sclerosis complex [Texte imprimé et/ou numérique] / Nicole M. MCDONALD, Auteur ; Kandice J. VARCIN, Auteur ; Rujuta BHATT, Auteur ; Joyce Y. WU, Auteur ; Mustafa SAHIN, Auteur ; Charles A. NELSON, Auteur ; Shafali S. JESTE, Auteur . - p.1981-1990. Langues : Anglais (eng) in Autism Research > 10-12 (December 2017) . - p.1981-1990 Mots-clés : tuberous sclerosis complex  autism spectrum disorder  Autism Observation Scale for Infants  high-risk infants  early risk markers Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50–60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n?=?13) differed from TSC/no ASD infants (n?=?10) and infants with low developmental risk and no ASD (LR; n?=?21) in their social communication functioning during the first year of life. We measured early ASD symptoms with the Autism Observation Scale for Infants (AOSI) at 9 and 12 months of age. At both ages, infants in the TSC/ASD group had significantly higher AOSI total scores than infants in the TSC/no ASD and LR groups, which were not fully explained by differences in cognitive abilities. Several items on the AOSI at both ages were predictive of ASD outcome, particularly those representing core social communication deficits (e.g., social referencing). Our findings signal the need for further study of this population within the first year and provide strong justification for early identification and early intervention targeting social communication skills in infants with TSC. Autism Res 2017, 10: 1981–1990. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary We examined early signs of autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC), approximately 50% of whom will meet criteria for ASD by age 3. Infants with TSC and ASD showed deficits in social communication behaviors by 9 months of age that were clearly distinguishable from behaviors in infants with TSC who do not develop ASD and low risk infants. Results support the importance of early ASD screening and intervention for infants with TSC. En ligne : http://dx.doi.org/10.1002/aur.1846 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=323

Early developmental concerns in 22q11.2 deletion and duplication carriers / Eve S. KORTANEK in Research in Autism Spectrum Disorders, 97 (September 2022)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 97 (September 2022) . - 102026 Titre : Early developmental concerns in 22q11.2 deletion and duplication carriers Type de document : Texte imprimé et/ou numérique Auteurs : Eve S. KORTANEK, Auteur ; Nicole M. MCDONALD, Auteur ; Erin E. NOSCO, Auteur ; Gabrielle A. MACNAUGHTON, Auteur ; Amy LIN, Auteur ; Shafali S. JESTE, Auteur ; Carrie E. BEARDEN, Auteur Article en page(s) : 102026 Langues : Anglais (eng) Mots-clés : Copy number variants  22q11.2  Early development  Developmental concerns  Social communication Index. décimale : PER Périodiques Résumé : Background 22q11.2 deletions (22qDEL) and duplications (22qDUP) are among the most common copy number variants (CNVs) associated with neurodevelopmental disorders (NDDs). Little is known about the earliest developmental features of 22q11.2 CNVs and whether developmental delays are detected in early childhood. This study primarily aimed to assess general development and social communication in 22q11.2 CNV carriers age 5 and under. Method Participants included parents of children age 5 and under with a reported genetic diagnosis of 22qDEL (N = 63) or 22qDUP (N = 30). In addition to questions addressing clinical and intervention information, two standardized parent questionnaires ”the Ages & Stages Questionnaires, Third Edition (ASQ-3) and the Communication and Symbolic Behavior Scales Developmental Profile Infant/Toddler Checklist (ITC) ”screened for developmental and social communication delays, respectively. Results Developmental delay and speech and/or language delay were the most commonly reported NDD diagnoses among young 22q11.2 CNV carriers, with prevalences at 19% and 17%, respectively. In the vast majority (91%) of 22q11.2 CNV carriers, parents reported concerns in at least one developmental domain, with 71% reporting global developmental concerns. 70% of parents of 22q11.2 CNV carriers age 2 and under also reported social communication concerns. Conclusions The high prevalence of reported developmental concerns in both CNV groups reinforces the need for close monitoring of early neurodevelopment in 22q11.2 CNV carriers with regard to both developmental delays and autism risk. En ligne : https://doi.org/10.1016/j.rasd.2022.102026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Early developmental concerns in 22q11.2 deletion and duplication carriers [Texte imprimé et/ou numérique] / Eve S. KORTANEK, Auteur ; Nicole M. MCDONALD, Auteur ; Erin E. NOSCO, Auteur ; Gabrielle A. MACNAUGHTON, Auteur ; Amy LIN, Auteur ; Shafali S. JESTE, Auteur ; Carrie E. BEARDEN, Auteur . - 102026. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 97 (September 2022) . - 102026 Mots-clés : Copy number variants  22q11.2  Early development  Developmental concerns  Social communication Index. décimale : PER Périodiques Résumé : Background 22q11.2 deletions (22qDEL) and duplications (22qDUP) are among the most common copy number variants (CNVs) associated with neurodevelopmental disorders (NDDs). Little is known about the earliest developmental features of 22q11.2 CNVs and whether developmental delays are detected in early childhood. This study primarily aimed to assess general development and social communication in 22q11.2 CNV carriers age 5 and under. Method Participants included parents of children age 5 and under with a reported genetic diagnosis of 22qDEL (N = 63) or 22qDUP (N = 30). In addition to questions addressing clinical and intervention information, two standardized parent questionnaires ”the Ages & Stages Questionnaires, Third Edition (ASQ-3) and the Communication and Symbolic Behavior Scales Developmental Profile Infant/Toddler Checklist (ITC) ”screened for developmental and social communication delays, respectively. Results Developmental delay and speech and/or language delay were the most commonly reported NDD diagnoses among young 22q11.2 CNV carriers, with prevalences at 19% and 17%, respectively. In the vast majority (91%) of 22q11.2 CNV carriers, parents reported concerns in at least one developmental domain, with 71% reporting global developmental concerns. 70% of parents of 22q11.2 CNV carriers age 2 and under also reported social communication concerns. Conclusions The high prevalence of reported developmental concerns in both CNV groups reinforces the need for close monitoring of early neurodevelopment in 22q11.2 CNV carriers with regard to both developmental delays and autism risk. En ligne : https://doi.org/10.1016/j.rasd.2022.102026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

Evaluation of clinical assessments of social abilities for use in autism clinical trials by the autism biomarkers consortium for clinical trials / Susan FAJA in Autism Research, 16-5 (May 2023)  

Public ISBD [article]  inAutism Research > 16-5 (May 2023) . - p.981-996 Titre : Evaluation of clinical assessments of social abilities for use in autism clinical trials by the autism biomarkers consortium for clinical trials Type de document : Texte imprimé et/ou numérique Auteurs : Susan FAJA, Auteur ; Maura SABATOS-DEVITO, Auteur ; Aksheya SRIDHAR, Auteur ; Jocelyn L. KUHN, Auteur ; Julia I. NIKOLAEVA, Auteur ; Catherine A. SUGAR, Auteur ; Sara Jane WEBB, Auteur ; Raphael A. BERNIER, Auteur ; Linmarie SIKICH, Auteur ; Gerhard HELLEMANN, Auteur ; Damla SENTURK, Auteur ; Adam J. NAPLES, Auteur ; Frederick SHIC, Auteur ; April R. LEVIN, Auteur ; Helen A. SEOW, Auteur ; James D. DZIURA, Auteur ; Shafali S. JESTE, Auteur ; Katarzyna CHAWARSKA, Auteur ; Charles A. NELSON III, Auteur ; Geraldine DAWSON, Auteur ; James C. MCPARTLAND, Auteur ; Autism Biomarkers Consortium for Clinical TRIALS, Auteur Article en page(s) : p.981-996 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Clinical trials in autism spectrum disorder (ASD) often rely on clinician rating scales and parent surveys to measure autism-related features and social behaviors. To aid in the selection of these assessments for future clinical trials, the Autism Biomarkers Consortium for Clinical Trials (ABC-CT) directly compared eight common instruments with respect to acquisition rates, sensitivity to group differences, equivalence across demographic sub-groups, convergent validity, and stability over a 6-week period. The sample included 280 children diagnosed with ASD (65 girls) and 119 neurotypical children (36 girls) aged from 6 to 11?years. Full scale IQ for ASD ranged from 60 to 150 and for neurotypical ranged from 86 to 150. Instruments measured clinician global assessment and autism-related behaviors, social communication abilities, adaptive function, and social withdrawal behavior. For each instrument, we examined only the scales that measured social or communication functioning. Data acquisition rates were at least 97.5% at T1 and 95.7% at T2. All scales distinguished diagnostic groups. Some scales significantly differed by participant and/or family demographic characteristics. Within the ASD group, most clinical instruments exhibited weak (? |0.1|) to moderate (? |0.4|) intercorrelations. Short-term stability was moderate (ICC: 0.5-0.75) to excellent (ICC: >0.9) within the ASD group. Variations in the degree of stability may inform viability for different contexts of use, such as identifying clinical subgroups for trials versus serving as a modifiable clinical outcome. All instruments were evaluated in terms of their advantages and potential concerns for use in clinical trials. En ligne : http://dx.doi.org/https://doi.org/10.1002/aur.2905 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=503 [article] Evaluation of clinical assessments of social abilities for use in autism clinical trials by the autism biomarkers consortium for clinical trials [Texte imprimé et/ou numérique] / Susan FAJA, Auteur ; Maura SABATOS-DEVITO, Auteur ; Aksheya SRIDHAR, Auteur ; Jocelyn L. KUHN, Auteur ; Julia I. NIKOLAEVA, Auteur ; Catherine A. SUGAR, Auteur ; Sara Jane WEBB, Auteur ; Raphael A. BERNIER, Auteur ; Linmarie SIKICH, Auteur ; Gerhard HELLEMANN, Auteur ; Damla SENTURK, Auteur ; Adam J. NAPLES, Auteur ; Frederick SHIC, Auteur ; April R. LEVIN, Auteur ; Helen A. SEOW, Auteur ; James D. DZIURA, Auteur ; Shafali S. JESTE, Auteur ; Katarzyna CHAWARSKA, Auteur ; Charles A. NELSON III, Auteur ; Geraldine DAWSON, Auteur ; James C. MCPARTLAND, Auteur ; Autism Biomarkers Consortium for Clinical TRIALS, Auteur . - p.981-996. Langues : Anglais (eng) in Autism Research > 16-5 (May 2023) . - p.981-996 Index. décimale : PER Périodiques Résumé : Abstract Clinical trials in autism spectrum disorder (ASD) often rely on clinician rating scales and parent surveys to measure autism-related features and social behaviors. To aid in the selection of these assessments for future clinical trials, the Autism Biomarkers Consortium for Clinical Trials (ABC-CT) directly compared eight common instruments with respect to acquisition rates, sensitivity to group differences, equivalence across demographic sub-groups, convergent validity, and stability over a 6-week period. The sample included 280 children diagnosed with ASD (65 girls) and 119 neurotypical children (36 girls) aged from 6 to 11?years. Full scale IQ for ASD ranged from 60 to 150 and for neurotypical ranged from 86 to 150. Instruments measured clinician global assessment and autism-related behaviors, social communication abilities, adaptive function, and social withdrawal behavior. For each instrument, we examined only the scales that measured social or communication functioning. Data acquisition rates were at least 97.5% at T1 and 95.7% at T2. All scales distinguished diagnostic groups. Some scales significantly differed by participant and/or family demographic characteristics. Within the ASD group, most clinical instruments exhibited weak (? |0.1|) to moderate (? |0.4|) intercorrelations. Short-term stability was moderate (ICC: 0.5-0.75) to excellent (ICC: >0.9) within the ASD group. Variations in the degree of stability may inform viability for different contexts of use, such as identifying clinical subgroups for trials versus serving as a modifiable clinical outcome. All instruments were evaluated in terms of their advantages and potential concerns for use in clinical trials. En ligne : http://dx.doi.org/https://doi.org/10.1002/aur.2905 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=503

Event Related Potentials in the Understanding of Autism Spectrum Disorders: An Analytical Review / Shafali S. JESTE in Journal of Autism and Developmental Disorders, 39-3 (March 2009)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 39-3 (March 2009) . - p.495-510 Titre : Event Related Potentials in the Understanding of Autism Spectrum Disorders: An Analytical Review Type de document : Texte imprimé et/ou numérique Auteurs : Shafali S. JESTE, Auteur ; Charles A. III NELSON, Auteur Année de publication : 2009 Article en page(s) : p.495-510 Langues : Anglais (eng) Mots-clés : Event related potential (ERP) - Autism - Auditory processing - Visual processing Index. décimale : PER Périodiques Résumé : In this paper we critically review the literature on the use of event related potentials (ERPs) to elucidate the neural sources of the core deficits in autism. We review auditory and visual ERP studies, and then review the use of ERPs in the investigation of executive function. We conclude that, in autism, impairments likely exist in both low and higher level auditory and visual processing, with prominent impairments in the processing of social stimuli. We also discuss the putative neural circuitry underlying these deficits. As we look to the future, we posit that tremendous insight can be gained by applying ERPs to the definition of endophenotypes, which, in turn, can facilitate early diagnosis and the creation of informed interventions for children with autism. En ligne : http://dx.doi.org/10.1007/s10803-008-0652-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=696 [article] Event Related Potentials in the Understanding of Autism Spectrum Disorders: An Analytical Review [Texte imprimé et/ou numérique] / Shafali S. JESTE, Auteur ; Charles A. III NELSON, Auteur . - 2009 . - p.495-510. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 39-3 (March 2009) . - p.495-510 Mots-clés : Event related potential (ERP) - Autism - Auditory processing - Visual processing Index. décimale : PER Périodiques Résumé : In this paper we critically review the literature on the use of event related potentials (ERPs) to elucidate the neural sources of the core deficits in autism. We review auditory and visual ERP studies, and then review the use of ERPs in the investigation of executive function. We conclude that, in autism, impairments likely exist in both low and higher level auditory and visual processing, with prominent impairments in the processing of social stimuli. We also discuss the putative neural circuitry underlying these deficits. As we look to the future, we posit that tremendous insight can be gained by applying ERPs to the definition of endophenotypes, which, in turn, can facilitate early diagnosis and the creation of informed interventions for children with autism. En ligne : http://dx.doi.org/10.1007/s10803-008-0652-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=696

Resting and Task-Modulated High-Frequency Brain Rhythms Measured by Scalp Encephalography in Infants with Tuberous Sclerosis Complex / Catherine STAMOULIS in Journal of Autism and Developmental Disorders, 45-2 (February 2015)  

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