Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability / Caitlin M. HUDAC in Journal of Autism and Developmental Disorders, 54-6 (June 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-6 (June 2024) . - p.2386-2401 Titre : Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Caitlin M. HUDAC, Auteur ; Nicole R. FRIEDMAN, Auteur ; Victoria R. WARD, Auteur ; Rachel E. ESTREICHER, Auteur ; Grace C. DORSEY, Auteur ; Raphael A. BERNIER, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Rachel K. EARL, Auteur ; Evan E. EICHLER, Auteur ; Emily NEUHAUS, Auteur Article en page(s) : p.2386-2401 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID). Caregivers reported on sensory behaviors via the Sensory Profile for 290 participants (younger than 25 years of age) with ASD and/or ID diagnoses, of which?~?70% have a known pathogenic genetic etiology. Caregivers endorsed poor registration (i.e., high sensory threshold, passive behaviors) for all genetic subgroups relative to an "idiopathic" comparison group with an ASD diagnosis and without a known genetic etiology. Genetic profiles indicated prominent sensory seeking in ADNP, CHD8, and DYRK1A, prominent sensory sensitivities in SCN2A, and fewer sensation avoidance behaviors in GRIN2B (relative to the idiopathic ASD comparison group). En ligne : https://doi.org/10.1007/s10803-023-05897-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=530 [article] Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability [Texte imprimé et/ou numérique] / Caitlin M. HUDAC, Auteur ; Nicole R. FRIEDMAN, Auteur ; Victoria R. WARD, Auteur ; Rachel E. ESTREICHER, Auteur ; Grace C. DORSEY, Auteur ; Raphael A. BERNIER, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Rachel K. EARL, Auteur ; Evan E. EICHLER, Auteur ; Emily NEUHAUS, Auteur . - p.2386-2401. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-6 (June 2024) . - p.2386-2401 Index. décimale : PER Périodiques Résumé : We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID). Caregivers reported on sensory behaviors via the Sensory Profile for 290 participants (younger than 25 years of age) with ASD and/or ID diagnoses, of which?~?70% have a known pathogenic genetic etiology. Caregivers endorsed poor registration (i.e., high sensory threshold, passive behaviors) for all genetic subgroups relative to an "idiopathic" comparison group with an ASD diagnosis and without a known genetic etiology. Genetic profiles indicated prominent sensory seeking in ADNP, CHD8, and DYRK1A, prominent sensory sensitivities in SCN2A, and fewer sensation avoidance behaviors in GRIN2B (relative to the idiopathic ASD comparison group). En ligne : https://doi.org/10.1007/s10803-023-05897-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=530

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 et/ou numérique 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 et/ou numérique] / 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

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

A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder / Megha SANTHOSH ; Emily NEUHAUS ; Catherine A. W. SULLIVAN ; Raphael A. BERNIER ; Susan Y. BOOKHEIMER ; Mirella DAPRETTO ; Daniel H. GESCHWIND ; Allison JACK ; James C. MCPARTLAND ; John D. VAN HORN ; Kevin A. PELPHREY ; Abha R. GUPTA ; Sara Jane WEBB ; A. C. E. Gendaar Network THE in Autism Research, 18-5 (May 2025)  

Public ISBD [article]  inAutism Research > 18-5 (May 2025) . - p.898-908 Titre : A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Megha SANTHOSH, Auteur ; Emily NEUHAUS, Auteur ; Catherine A. W. SULLIVAN, Auteur ; Raphael A. BERNIER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; Daniel H. GESCHWIND, Auteur ; Allison JACK, Auteur ; James C. MCPARTLAND, Auteur ; John D. VAN HORN, Auteur ; Kevin A. PELPHREY, Auteur ; Abha R. GUPTA, Auteur ; Sara Jane WEBB, Auteur ; A. C. E. Gendaar Network THE, Auteur Article en page(s) : p.898-908 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  communication  language  SNP rs2710102  the polymorphism of CNTNAP2 Index. décimale : PER Périodiques Résumé : Abstract One of the candidate genes related to language variability in individuals with Autism Spectrum Disorder (ASD) is the contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin family. However, due to the different assessment tools used, it is unknown whether the polymorphisms of the CNTNAP2 gene are linked to structural language skills or more general communication abilities. A total of 302 youth aged 7 to 18?years participated in the present study: 131 verbal youth with ASD (62 female), 130 typically developing (TD) youth (64 female), and 41 unaffected siblings (US) of youth with ASD (25 female). Blood samples were collected to obtain genomic DNA and processed by the Rutgers University Cell and Data Repository or using standard protocols (Gentra Puregene Blood DNA extraction kit; Qiagen). Language and verbal communication skills were screened with the Clinical Evaluation of Language Fundamental-4 (CELF-4) and Vineland-II Communication domain, subsequently. The results showed that the polymorphism of CNTNAP2 (SNP rs2710102) was related to structural language abilities, such that participants carrying the A-allele had lower language skills in comparison to the G-allele homozygotes. No relationship was found between the polymorphism of CNTNAP2 and more general communication abilities. Although the study revealed genetic mechanisms that are associated with CELF-4 measures but not Vineland-II in youth with ASD, follow-up studies are needed that will include measures of language and communication that are less correlated to each other as well as will include a group of minimally and/or non-verbal individuals with ASD. En ligne : https://doi.org/10.1002/aur.3193 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558 [article] A common genetic variant in the Neurexin family member CNTNAP2 is related to language but not communication skills in youth with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Megha SANTHOSH, Auteur ; Emily NEUHAUS, Auteur ; Catherine A. W. SULLIVAN, Auteur ; Raphael A. BERNIER, Auteur ; Susan Y. BOOKHEIMER, Auteur ; Mirella DAPRETTO, Auteur ; Daniel H. GESCHWIND, Auteur ; Allison JACK, Auteur ; James C. MCPARTLAND, Auteur ; John D. VAN HORN, Auteur ; Kevin A. PELPHREY, Auteur ; Abha R. GUPTA, Auteur ; Sara Jane WEBB, Auteur ; A. C. E. Gendaar Network THE, Auteur . - p.898-908. Langues : Anglais (eng) in Autism Research > 18-5 (May 2025) . - p.898-908 Mots-clés : Autism Spectrum Disorder  communication  language  SNP rs2710102  the polymorphism of CNTNAP2 Index. décimale : PER Périodiques Résumé : Abstract One of the candidate genes related to language variability in individuals with Autism Spectrum Disorder (ASD) is the contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin family. However, due to the different assessment tools used, it is unknown whether the polymorphisms of the CNTNAP2 gene are linked to structural language skills or more general communication abilities. A total of 302 youth aged 7 to 18?years participated in the present study: 131 verbal youth with ASD (62 female), 130 typically developing (TD) youth (64 female), and 41 unaffected siblings (US) of youth with ASD (25 female). Blood samples were collected to obtain genomic DNA and processed by the Rutgers University Cell and Data Repository or using standard protocols (Gentra Puregene Blood DNA extraction kit; Qiagen). Language and verbal communication skills were screened with the Clinical Evaluation of Language Fundamental-4 (CELF-4) and Vineland-II Communication domain, subsequently. The results showed that the polymorphism of CNTNAP2 (SNP rs2710102) was related to structural language abilities, such that participants carrying the A-allele had lower language skills in comparison to the G-allele homozygotes. No relationship was found between the polymorphism of CNTNAP2 and more general communication abilities. Although the study revealed genetic mechanisms that are associated with CELF-4 measures but not Vineland-II in youth with ASD, follow-up studies are needed that will include measures of language and communication that are less correlated to each other as well as will include a group of minimally and/or non-verbal individuals with ASD. En ligne : https://doi.org/10.1002/aur.3193 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=558

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

Social motivation by self- and caregiver-report: Reporter concordance and social correlates among autistic and neurotypical youth / Raphael A. BERNIER ; Sara Jane WEBB in Autism Research, 17-1 (January 2024)  

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The gap between IQ and adaptive functioning in autism spectrum disorder: Disentangling diagnostic and sex differences / Goldie A. MCQUAID in Autism, 26-6 (August 2022)  

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The relationship between gamma-band neural oscillations and language skills in youth with Autism Spectrum Disorder and their first-degree relatives / Vardan ARUTIUNIAN in Molecular Autism, 15 (2024)  

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Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants / Kelsey DOMMER ; Monique MAHONY ; Trent D. DESCHAMPS ; Brianna CAIRNEY ; Rachel EARL ; Evangeline C. KURTZ-NELSON ; Jessica BRADSHAW ; Raphael A. BERNIER ; Evan E. EICHLER ; Emily NEUHAUS ; Sara Jane WEBB ; Frederick SHIC in Autism Research, 18-5 (May 2025)  

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