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 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] / 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 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

Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder / Anne B. ARNETT in Autism Research, 13-10 (October 2020)  

Public ISBD [article]  inAutism Research > 13-10 (October 2020) . - p.1659-1669 Titre : Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Anne B. ARNETT, Auteur ; Jennifer BEIGHLEY, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Kendra HOEKZEMA, Auteur ; Tianyun WANG, Auteur ; Raphael A. BERNIER, Auteur ; Evan E. EICHLER, Auteur Article en page(s) : p.1659-1669 Langues : Anglais (eng) Mots-clés : developmental psychology  genetic/genomic syndromes  genetics  intellectual disability  subtypes of ASD Index. décimale : PER Périodiques Résumé : Approximately one-fourth of autism spectrum disorder (ASD) cases are associated with a disruptive genetic variant. Many of these ASD genotypes have been described previously, and are characterized by unique constellations of medical, psychiatric, developmental, and behavioral features. Development of precision medicine care for affected individuals has been challenging due to the phenotypic heterogeneity that exists even within each genetic subtype. In the present study, we identify developmental milestones that predict cognitive and adaptive outcomes for five of the most common ASD genotypes. Sixty-five youth with a known pathogenic variant involving ADNP, CHD8, DYRK1A, GRIN2B, or SCN2A genes participated in cognitive and adaptive testing. Exploratory linear regressions were used to identify developmental milestones that predicted cognitive and adaptive outcomes within each gene group. We hypothesized that the earliest and most predictive milestones would vary across gene groups, but would be consistent across outcomes within each genetic subtype. Within the ADNP group, age of walking predicted cognitive outcomes, while age of first words predicted adaptive behaviors. Age of phrases predicted adaptive functioning in the CHD8 group, but cognitive outcomes were not clearly associated with early developmental milestones. Verbal milestones were the strongest predictors of cognitive and adaptive outcomes for individuals with mutations to DYRK1A, GRIN2B, or SCN2A. These trends inform decisions about treatment planning and long-term expectations for affected individuals, and they add to the growing body of research linking molecular genetic function to brain development and phenotypic outcomes. LAY SUMMARY: Researchers have found many genetic causes of autism including mutations to ADNP, CHD8, DYRK1A, GRIN2B, and SCN2A genes. We found that each genetic cause had different early developmental milestones that explained the overall functioning of the children when they were older. Depending on the genetic cause, the age that a child first starts walking and/or talking may help to better understand and support a child's development who has a mutation to one of the above genes. Autism Res 2020, 13: 1659-1669. © 2020 International Society for Autism Research and Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2385 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=431 [article] Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder [texte imprimé] / Anne B. ARNETT, Auteur ; Jennifer BEIGHLEY, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Kendra HOEKZEMA, Auteur ; Tianyun WANG, Auteur ; Raphael A. BERNIER, Auteur ; Evan E. EICHLER, Auteur . - p.1659-1669. Langues : Anglais (eng) in Autism Research > 13-10 (October 2020) . - p.1659-1669 Mots-clés : developmental psychology  genetic/genomic syndromes  genetics  intellectual disability  subtypes of ASD Index. décimale : PER Périodiques Résumé : Approximately one-fourth of autism spectrum disorder (ASD) cases are associated with a disruptive genetic variant. Many of these ASD genotypes have been described previously, and are characterized by unique constellations of medical, psychiatric, developmental, and behavioral features. Development of precision medicine care for affected individuals has been challenging due to the phenotypic heterogeneity that exists even within each genetic subtype. In the present study, we identify developmental milestones that predict cognitive and adaptive outcomes for five of the most common ASD genotypes. Sixty-five youth with a known pathogenic variant involving ADNP, CHD8, DYRK1A, GRIN2B, or SCN2A genes participated in cognitive and adaptive testing. Exploratory linear regressions were used to identify developmental milestones that predicted cognitive and adaptive outcomes within each gene group. We hypothesized that the earliest and most predictive milestones would vary across gene groups, but would be consistent across outcomes within each genetic subtype. Within the ADNP group, age of walking predicted cognitive outcomes, while age of first words predicted adaptive behaviors. Age of phrases predicted adaptive functioning in the CHD8 group, but cognitive outcomes were not clearly associated with early developmental milestones. Verbal milestones were the strongest predictors of cognitive and adaptive outcomes for individuals with mutations to DYRK1A, GRIN2B, or SCN2A. These trends inform decisions about treatment planning and long-term expectations for affected individuals, and they add to the growing body of research linking molecular genetic function to brain development and phenotypic outcomes. LAY SUMMARY: Researchers have found many genetic causes of autism including mutations to ADNP, CHD8, DYRK1A, GRIN2B, and SCN2A genes. We found that each genetic cause had different early developmental milestones that explained the overall functioning of the children when they were older. Depending on the genetic cause, the age that a child first starts walking and/or talking may help to better understand and support a child's development who has a mutation to one of the above genes. Autism Res 2020, 13: 1659-1669. © 2020 International Society for Autism Research and Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2385 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=431

Family Empowerment: Predicting Service Utilization for Children with Autism Spectrum Disorder / Patricia K. ZEMANTIC in Journal of Autism and Developmental Disorders, 52-11 (November 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.4986-4993 Titre : Family Empowerment: Predicting Service Utilization for Children with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Patricia K. ZEMANTIC, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Hannah BARTON, Auteur ; Jonathan SAFER-LICHTENSTEIN, Auteur ; Laura Lee MCINTYRE, Auteur Article en page(s) : p.4986-4993 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/epidemiology/therapy  Child  Complementary Therapies  Family  Humans  Autism  Early intervention  Family empowerment  Service utilization Index. décimale : PER Périodiques Résumé : Families of children with autism spectrum disorder (ASD) often utilize a variety of services. Relatively few studies have examined the relationship between family empowerment and service utilization for this population. The present study investigated the relationship between family empowerment and service utilization in families of children with ASD from the Pacific Northwest. Family empowerment did not predict the use of behavioral services or established related services. However, higher family empowerment was reported for families who reported use of complementary and alternative medicine. Implications for future research and clinical practice are discussed. En ligne : http://dx.doi.org/10.1007/s10803-021-05329-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489 [article] Family Empowerment: Predicting Service Utilization for Children with Autism Spectrum Disorder [texte imprimé] / Patricia K. ZEMANTIC, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Hannah BARTON, Auteur ; Jonathan SAFER-LICHTENSTEIN, Auteur ; Laura Lee MCINTYRE, Auteur . - p.4986-4993. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.4986-4993 Mots-clés : Autism Spectrum Disorder/diagnosis/epidemiology/therapy  Child  Complementary Therapies  Family  Humans  Autism  Early intervention  Family empowerment  Service utilization Index. décimale : PER Périodiques Résumé : Families of children with autism spectrum disorder (ASD) often utilize a variety of services. Relatively few studies have examined the relationship between family empowerment and service utilization for this population. The present study investigated the relationship between family empowerment and service utilization in families of children with ASD from the Pacific Northwest. Family empowerment did not predict the use of behavioral services or established related services. However, higher family empowerment was reported for families who reported use of complementary and alternative medicine. Implications for future research and clinical practice are discussed. En ligne : http://dx.doi.org/10.1007/s10803-021-05329-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489

Predicting Intervention Use in Youth with Rare Variants in Autism-Associated Genes / Margaret JOHANSSON ; Elizabeth JONES ; Hannah REA ; Evangeline C. KURTZ-NELSON ; Conor MILES ; Alana WHITING ; Curtis EAYRS ; Rachel 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 REA, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Conor MILES, Auteur ; Alana WHITING, Auteur ; Curtis EAYRS, Auteur ; Rachel 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 REA, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Conor MILES, Auteur ; Alana WHITING, Auteur ; Curtis EAYRS, Auteur ; Rachel 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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Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants / Kelsey J. DOMMER ; Monique MAHONY ; Trent D. DESCHAMPS ; Brianna E. 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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