Characterizing the autism spectrum phenotype in DYRK1A-related syndrome / Evangeline C. KURTZ-NELSON in Autism Research, 16-8 (August 2023)  

Public ISBD [article]  inAutism Research > 16-8 (August 2023) . - p.1488-1500 Titre : Characterizing the autism spectrum phenotype in DYRK1A-related syndrome Type de document : texte imprimé Auteurs : Evangeline C. KURTZ-NELSON, Auteur ; Hannah M. REA, Auteur ; Aiva C. PETRICEKS, Auteur ; Caitlin M. HUDAC, Auteur ; Tianyun WANG, Auteur ; Rachel K. EARL, Auteur ; Raphael A. BERNIER, Auteur ; Evan E. EICHLER, Auteur ; Emily NEUHAUS, Auteur Article en page(s) : p.1488-1500 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Likely gene-disrupting (LGD) variants in DYRK1A are causative of DYRK1A syndrome and associated with autism spectrum disorder (ASD) and intellectual disability (ID). While many individuals with DYRK1A syndrome are diagnosed with ASD, they may present with a unique profile of ASD traits. We present a comprehensive characterization of the ASD profile in children and young adults with LGDs in DYRK1A. Individuals with LGD variants in DYRK1A (n=29) were compared to children who had ASD with no known genetic cause, either with low nonverbal IQ (n=14) or average or above nonverbal IQ (n=41). ASD was assessed using the ADOS-2, ADI-R, SRS-2, SCQ, and RBS-R. Quantitative score comparisons were conducted, as were qualitative analyses of clinicians' behavioral observations. Diagnosis of ASD was confirmed in 85% and ID was confirmed in 89% of participants with DYRK1A syndrome. Individuals with DYRK1A syndrome showed broadly similar social communication behaviors to children with idiopathic ASD and below-average nonverbal IQ, with specific challenges noted in social reciprocity and nonverbal communication. Children with DYRK1A syndrome also showed high rates of sensory-seeking behaviors. Phenotypic characterization of individuals with DYRK1A syndrome may provide additional information on mechanisms contributing to co-occurring ASD and ID and contribute to the identification of genetic predictors of specific ASD traits. En ligne : https://doi.org/10.1002/aur.2995 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=510 [article] Characterizing the autism spectrum phenotype in DYRK1A-related syndrome [texte imprimé] / Evangeline C. KURTZ-NELSON, Auteur ; Hannah M. REA, Auteur ; Aiva C. PETRICEKS, Auteur ; Caitlin M. HUDAC, Auteur ; Tianyun WANG, Auteur ; Rachel K. EARL, Auteur ; Raphael A. BERNIER, Auteur ; Evan E. EICHLER, Auteur ; Emily NEUHAUS, Auteur . - p.1488-1500. Langues : Anglais (eng) in Autism Research > 16-8 (August 2023) . - p.1488-1500 Index. décimale : PER Périodiques Résumé : Abstract Likely gene-disrupting (LGD) variants in DYRK1A are causative of DYRK1A syndrome and associated with autism spectrum disorder (ASD) and intellectual disability (ID). While many individuals with DYRK1A syndrome are diagnosed with ASD, they may present with a unique profile of ASD traits. We present a comprehensive characterization of the ASD profile in children and young adults with LGDs in DYRK1A. Individuals with LGD variants in DYRK1A (n=29) were compared to children who had ASD with no known genetic cause, either with low nonverbal IQ (n=14) or average or above nonverbal IQ (n=41). ASD was assessed using the ADOS-2, ADI-R, SRS-2, SCQ, and RBS-R. Quantitative score comparisons were conducted, as were qualitative analyses of clinicians' behavioral observations. Diagnosis of ASD was confirmed in 85% and ID was confirmed in 89% of participants with DYRK1A syndrome. Individuals with DYRK1A syndrome showed broadly similar social communication behaviors to children with idiopathic ASD and below-average nonverbal IQ, with specific challenges noted in social reciprocity and nonverbal communication. Children with DYRK1A syndrome also showed high rates of sensory-seeking behaviors. Phenotypic characterization of individuals with DYRK1A syndrome may provide additional information on mechanisms contributing to co-occurring ASD and ID and contribute to the identification of genetic predictors of specific ASD traits. En ligne : https://doi.org/10.1002/aur.2995 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=510

Examining Feasibility and Outcomes of the PEERS® for Preschoolers Program / Reina S. FACTOR in Journal of Autism and Developmental Disorders, 53-5 (May 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-5 (May 2023) . - p.1821-1833 Titre : Examining Feasibility and Outcomes of the PEERS® for Preschoolers Program Type de document : texte imprimé Auteurs : Reina S. FACTOR, Auteur ; Hannah M. REA, Auteur ; Elizabeth A. LAUGESON, Auteur ; Angela SCARPA, Auteur Article en page(s) : p.1821-1833 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Social impairments characteristic of autism spectrum disorder (ASD) are evident in early childhood and often worsen. There is a paucity of evidence-based interventions explicitly targeting social skill development for young children with ASD and few actively integrate caregivers. The PEERS® program, an evidence-based caregiver-assisted social skills program, was extended for young children with ASD (i.e., PEERS® for Preschoolers (P4P)). This pilot study expands upon initial results by examining the feasibility of a briefer intervention period and the effectiveness in improving child social skills among 15 children with ASD. Results suggest P4P recruitment, participant retention, and implementation are feasible across clinicians and sites. Further, P4P appears to improve social skills, maintained post-intervention. Future research might examine mechanisms that lead to results. En ligne : https://doi.org/10.1007/s10803-022-05502-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500 [article] Examining Feasibility and Outcomes of the PEERS® for Preschoolers Program [texte imprimé] / Reina S. FACTOR, Auteur ; Hannah M. REA, Auteur ; Elizabeth A. LAUGESON, Auteur ; Angela SCARPA, Auteur . - p.1821-1833. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-5 (May 2023) . - p.1821-1833 Index. décimale : PER Périodiques Résumé : Social impairments characteristic of autism spectrum disorder (ASD) are evident in early childhood and often worsen. There is a paucity of evidence-based interventions explicitly targeting social skill development for young children with ASD and few actively integrate caregivers. The PEERS® program, an evidence-based caregiver-assisted social skills program, was extended for young children with ASD (i.e., PEERS® for Preschoolers (P4P)). This pilot study expands upon initial results by examining the feasibility of a briefer intervention period and the effectiveness in improving child social skills among 15 children with ASD. Results suggest P4P recruitment, participant retention, and implementation are feasible across clinicians and sites. Further, P4P appears to improve social skills, maintained post-intervention. Future research might examine mechanisms that lead to results. En ligne : https://doi.org/10.1007/s10803-022-05502-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500

Feasibility of Group Parent Training for Children with Autism Spectrum Disorder and Disruptive Behavior: A Demonstration Pilot / T. Lindsey BURRELL in Journal of Autism and Developmental Disorders, 50-11 (November 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-11 (November 2020) . - p.3883-3894 Titre : Feasibility of Group Parent Training for Children with Autism Spectrum Disorder and Disruptive Behavior: A Demonstration Pilot Type de document : texte imprimé Auteurs : T. Lindsey BURRELL, Auteur ; Valentina POSTORINO, Auteur ; Lawrence SCAHILL, Auteur ; Hannah M. REA, Auteur ; Scott E. GILLESPIE, Auteur ; Andrea Nichole EVANS, Auteur ; Karen E. BEARSS, Auteur Article en page(s) : p.3883-3894 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Disruptive behaviors  Feasibility  Group intervention  Parent training Index. décimale : PER Périodiques Résumé : Delivery of interventions in a group format is a potential solution to limited access to specialized services for children with autism spectrum disorder (ASD). We conducted an open feasibility trial of group-based RUBI parent training in 18 children (mean age 6.12 ± 1.95 years) with ASD and disruptive behaviors. Parents participated in one of five groups (3 to 4 parents per group). Eighty-three percent of participants completed the 24-week trial. Session attendance was moderate (74.2%). All parents indicated that they would recommend the treatment. Therapists demonstrated 98.8% fidelity to the manual. Eleven of 18 (64.7%) participants were rated as much/very much improved by an independent evaluator at Week 24. Preliminary efficacy findings justify further study. En ligne : http://dx.doi.org/10.1007/s10803-020-04427-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432 [article] Feasibility of Group Parent Training for Children with Autism Spectrum Disorder and Disruptive Behavior: A Demonstration Pilot [texte imprimé] / T. Lindsey BURRELL, Auteur ; Valentina POSTORINO, Auteur ; Lawrence SCAHILL, Auteur ; Hannah M. REA, Auteur ; Scott E. GILLESPIE, Auteur ; Andrea Nichole EVANS, Auteur ; Karen E. BEARSS, Auteur . - p.3883-3894. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-11 (November 2020) . - p.3883-3894 Mots-clés : Autism spectrum disorder  Disruptive behaviors  Feasibility  Group intervention  Parent training Index. décimale : PER Périodiques Résumé : Delivery of interventions in a group format is a potential solution to limited access to specialized services for children with autism spectrum disorder (ASD). We conducted an open feasibility trial of group-based RUBI parent training in 18 children (mean age 6.12 ± 1.95 years) with ASD and disruptive behaviors. Parents participated in one of five groups (3 to 4 parents per group). Eighty-three percent of participants completed the 24-week trial. Session attendance was moderate (74.2%). All parents indicated that they would recommend the treatment. Therapists demonstrated 98.8% fidelity to the manual. Eleven of 18 (64.7%) participants were rated as much/very much improved by an independent evaluator at Week 24. Preliminary efficacy findings justify further study. En ligne : http://dx.doi.org/10.1007/s10803-020-04427-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432

Increased alpha power in autistic adults: Relation to sensory behaviors and cortical volume / Scott O. MURRAY ; Daniela L. SECZON ; Mark PETTET ; Hannah M. REA ; Kristin M. WOODARD ; Tamar KOLODNY ; Sara Jane WEBB in Autism Research, 18-1 (January 2025)  

Public ISBD [article]  inAutism Research > 18-1 (January 2025) . - p.56-69 Titre : Increased alpha power in autistic adults: Relation to sensory behaviors and cortical volume : Autism Research Type de document : texte imprimé Auteurs : Scott O. MURRAY, Auteur ; Daniela L. SECZON, Auteur ; Mark PETTET, Auteur ; Hannah M. REA, Auteur ; Kristin M. WOODARD, Auteur ; Tamar KOLODNY, Auteur ; Sara Jane WEBB, Auteur Article en page(s) : p.56-69 Langues : Anglais (eng) Mots-clés : alpha  autism spectrum disorder  EEG  sensory processing  vision Index. décimale : PER Périodiques Résumé : Abstract Alpha-band (~10 Hz) neural oscillations, crucial for gating sensory information, may offer insights into the atypical sensory experiences characteristic of autism spectrum disorder (ASD). We investigated alpha-band EEG activity in autistic adults (n 29) compared with a nonautistic group (n 23) under various stimulus-driven and resting-state conditions. The autistic group showed consistently higher alpha amplitude across all time points. In addition, there was proportionally more suppression of alpha at stimulus onset in the autistic group, and alpha amplitude in this stimulus-onset period correlated with sensory behaviors. Recent research suggests a link between subcortical structures' volume and cortical alpha magnitude. Prompted by this, we explored the association between alpha power and the volume of subcortical structures and total cortical volume in ASD. Our findings indicate a significant correlation with total cortical volume and a group by hippocampal volume interaction, pointing to the potential role of anatomical structural characteristics as potential modulators of cortical alpha oscillations in ASD. Overall, the results highlight altered alpha in autistic individuals as potentially contributing to the heightened sensory symptoms in autistic compared with nonautistic adults. En ligne : https://doi.org/10.1002/aur.3266 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546 [article] Increased alpha power in autistic adults: Relation to sensory behaviors and cortical volume : Autism Research [texte imprimé] / Scott O. MURRAY, Auteur ; Daniela L. SECZON, Auteur ; Mark PETTET, Auteur ; Hannah M. REA, Auteur ; Kristin M. WOODARD, Auteur ; Tamar KOLODNY, Auteur ; Sara Jane WEBB, Auteur . - p.56-69. Langues : Anglais (eng) in Autism Research > 18-1 (January 2025) . - p.56-69 Mots-clés : alpha  autism spectrum disorder  EEG  sensory processing  vision Index. décimale : PER Périodiques Résumé : Abstract Alpha-band (~10 Hz) neural oscillations, crucial for gating sensory information, may offer insights into the atypical sensory experiences characteristic of autism spectrum disorder (ASD). We investigated alpha-band EEG activity in autistic adults (n 29) compared with a nonautistic group (n 23) under various stimulus-driven and resting-state conditions. The autistic group showed consistently higher alpha amplitude across all time points. In addition, there was proportionally more suppression of alpha at stimulus onset in the autistic group, and alpha amplitude in this stimulus-onset period correlated with sensory behaviors. Recent research suggests a link between subcortical structures' volume and cortical alpha magnitude. Prompted by this, we explored the association between alpha power and the volume of subcortical structures and total cortical volume in ASD. Our findings indicate a significant correlation with total cortical volume and a group by hippocampal volume interaction, pointing to the potential role of anatomical structural characteristics as potential modulators of cortical alpha oscillations in ASD. Overall, the results highlight altered alpha in autistic individuals as potentially contributing to the heightened sensory symptoms in autistic compared with nonautistic adults. En ligne : https://doi.org/10.1002/aur.3266 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546

Predicting Intervention Use in Youth with Rare Variants in Autism-Associated Genes / Margaret JOHANSSON ; Elizabeth JONES ; Hannah M. REA ; Evangeline C. KURTZ-NELSON ; Conor MILES ; Alana WHITING ; Curtis EAYRS ; Rachel K. EARL ; Raphael A. BERNIER ; Evan E. EICHLER ; Emily NEUHAUS in Journal of Autism and Developmental Disorders, 55-8 (August 2025)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 55-8 (August 2025) . - p.2909-2918 Titre : Predicting Intervention Use in Youth with Rare Variants in Autism-Associated Genes Type de document : texte imprimé Auteurs : Margaret JOHANSSON, Auteur ; Elizabeth JONES, Auteur ; Hannah M. REA, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Conor MILES, Auteur ; Alana WHITING, Auteur ; Curtis EAYRS, Auteur ; Rachel K. EARL, Auteur ; Raphael A. BERNIER, Auteur ; Evan E. EICHLER, Auteur ; Emily NEUHAUS, Auteur Article en page(s) : p.2909-2918 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Specialized multidisciplinary supports are important for long-term outcomes for autistic youth. Although family and child factors predict service utilization in autism, little is known with respect to youth with rare, autism-associated genetic variants, who frequently have increased psychiatric, developmental, and behavioral needs. We investigate the impact of family factors on service utilization to determine whether caregiver (autistic features, education, income) and child (autistic features, sex, age, IQ, co-occurring conditions) factors predicted service type (e.g., speech, occupational, behavioral) and intensity (hours/year) among children with autism-associated variants (N = 125), some of whom also had a confirmed ASD diagnosis. Analyses revealed variability in the types of services used across a range of child demographic, behavioral, and mental health characteristics. Speech therapy was the most received service (87.2%). Importantly, behavior therapy was the least received service and post-hoc analyses revealed that use of this therapy was uniquely predicted by ASD diagnosis. However, once children received a particular service, there was largely comparable intensity of services, independent of caregiver and child factors. Findings suggest that demographic and clinical factors impact families' ability to obtain services, with less impact on the intensity of services received. The low receipt of therapies that specifically address core support needs in autism (i.e., behavior therapy) indicates more research is needed on the availability of these services for youth with autism-associated variants, particularly for those who do not meet criteria for an ASD diagnosis but do demonstrate elevated and impactful child autistic features as compared to the general population. En ligne : https://doi.org/10.1007/s10803-024-06414-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=565 [article] Predicting Intervention Use in Youth with Rare Variants in Autism-Associated Genes [texte imprimé] / Margaret JOHANSSON, Auteur ; Elizabeth JONES, Auteur ; Hannah M. REA, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Conor MILES, Auteur ; Alana WHITING, Auteur ; Curtis EAYRS, Auteur ; Rachel K. EARL, Auteur ; Raphael A. BERNIER, Auteur ; Evan E. EICHLER, Auteur ; Emily NEUHAUS, Auteur . - p.2909-2918. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 55-8 (August 2025) . - p.2909-2918 Index. décimale : PER Périodiques Résumé : Specialized multidisciplinary supports are important for long-term outcomes for autistic youth. Although family and child factors predict service utilization in autism, little is known with respect to youth with rare, autism-associated genetic variants, who frequently have increased psychiatric, developmental, and behavioral needs. We investigate the impact of family factors on service utilization to determine whether caregiver (autistic features, education, income) and child (autistic features, sex, age, IQ, co-occurring conditions) factors predicted service type (e.g., speech, occupational, behavioral) and intensity (hours/year) among children with autism-associated variants (N = 125), some of whom also had a confirmed ASD diagnosis. Analyses revealed variability in the types of services used across a range of child demographic, behavioral, and mental health characteristics. Speech therapy was the most received service (87.2%). Importantly, behavior therapy was the least received service and post-hoc analyses revealed that use of this therapy was uniquely predicted by ASD diagnosis. However, once children received a particular service, there was largely comparable intensity of services, independent of caregiver and child factors. Findings suggest that demographic and clinical factors impact families' ability to obtain services, with less impact on the intensity of services received. The low receipt of therapies that specifically address core support needs in autism (i.e., behavior therapy) indicates more research is needed on the availability of these services for youth with autism-associated variants, particularly for those who do not meet criteria for an ASD diagnosis but do demonstrate elevated and impactful child autistic features as compared to the general population. En ligne : https://doi.org/10.1007/s10803-024-06414-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=565

Rhythmic attentional sampling in autism / Tamar KOLODNY ; Kristin M. WOODARD ; Aydin TASEVAC ; Wesley R. GANZ ; Hannah M. REA ; Evangeline C. KURTZ-NELSON ; Sara Jane WEBB ; Scott O. MURRAY in Autism Research, 16-11 (November 2023)  

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Sex Differences on the ADOS-2 / Hannah M. REA in Journal of Autism and Developmental Disorders, 53-7 (July 2023)  

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The Association of the Broader Autism Phenotype with Emotion-Related Behaviors in Mothers of Children With and Without Autism Spectrum Traits / Hannah M. REA in Journal of Autism and Developmental Disorders, 49-3 (March 2019)  

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