Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism / K. LUHRS in Autism Research and Treatment, 2017 (2017)  

Public ISBD [article]  inAutism Research and Treatment > 2017 (2017) Titre : Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism Type de document : texte imprimé Auteurs : K. LUHRS, Auteur ; Tracey WARD, Auteur ; Caitlin M. HUDAC, Auteur ; Jennifer GERDTS, Auteur ; Holly A.F. STESSMAN, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, n = 62), de novo deletion copy number variations (DEL, n = 74), de novo likely gene-disrupting mutations (LGDM, n = 267), and children without a known genetic etiology (NON, n = 2111). Familial rates of psychiatric disorders were calculated from semistructured interviews. Results indicated overall increased rates of psychiatric disorders in DUP families compared to DEL and LGDM families, specific to paternal psychiatric histories, and particularly evident for depressive disorders. Higher rates of depressive disorders in maternal psychiatric histories were observed overall compared to paternal histories and higher rates of anxiety disorders were observed in paternal histories for LGDM families compared to DUP families. These findings support the notion of an additive contribution of genetic etiology and familial factors are associated with ASD risk and highlight critical need for continued work targeting these relationships. En ligne : http://dx.doi.org/10.1155/2017/9371964 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=333 [article] Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism [texte imprimé] / K. LUHRS, Auteur ; Tracey WARD, Auteur ; Caitlin M. HUDAC, Auteur ; Jennifer GERDTS, Auteur ; Holly A.F. STESSMAN, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur. Langues : Anglais (eng) in Autism Research and Treatment > 2017 (2017) Index. décimale : PER Périodiques Résumé : The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, n = 62), de novo deletion copy number variations (DEL, n = 74), de novo likely gene-disrupting mutations (LGDM, n = 267), and children without a known genetic etiology (NON, n = 2111). Familial rates of psychiatric disorders were calculated from semistructured interviews. Results indicated overall increased rates of psychiatric disorders in DUP families compared to DEL and LGDM families, specific to paternal psychiatric histories, and particularly evident for depressive disorders. Higher rates of depressive disorders in maternal psychiatric histories were observed overall compared to paternal histories and higher rates of anxiety disorders were observed in paternal histories for LGDM families compared to DUP families. These findings support the notion of an additive contribution of genetic etiology and familial factors are associated with ASD risk and highlight critical need for continued work targeting these relationships. En ligne : http://dx.doi.org/10.1155/2017/9371964 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=333

Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations / Evangeline C. KURTZ-NELSON in Journal of Autism and Developmental Disorders, 51-9 (September 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-9 (September 2021) . - p.3365-3373 Titre : Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations Type de document : texte imprimé Auteurs : Evangeline C. KURTZ-NELSON, Auteur ; See Wan THAM, Auteur ; Kaitlyn AHLERS, Auteur ; Daniel CHO, Auteur ; Arianne S. WALLACE, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur ; Rachel K. EARL, Auteur Article en page(s) : p.3365-3373 Langues : Anglais (eng) Mots-clés : Abdominal Pain/genetics  Autism Spectrum Disorder/epidemiology/genetics  Humans  Mutation  Risk Factors  Self-Injurious Behavior/epidemiology/genetics  Abdominal pain  Autism spectrum disorder  Intellectual disability  Rare genetic disorders  Self-injurious behavior  Inc. The remaining authors have no conflicts of interest to report. Index. décimale : PER Périodiques Résumé : Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that contribute to SIB in ASD are poorly understood. This study examined rates and predictors of SIB in 112 individuals with disruptive mutations to ASD-risk genes. Current SIB were reported in 30% of participants and associated with poorer cognitive and adaptive skills. History of severe abdominal pain predicted higher rates of SIB and SIB severity after controlling for age and adaptive behavior; individuals with a history of severe abdominal pain were eight times more likely to exhibit SIB than those with no history. Future research is needed to examine associations between genetic risk, pain, and SIB in this population. En ligne : http://dx.doi.org/10.1007/s10803-020-04774-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 [article] Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations [texte imprimé] / Evangeline C. KURTZ-NELSON, Auteur ; See Wan THAM, Auteur ; Kaitlyn AHLERS, Auteur ; Daniel CHO, Auteur ; Arianne S. WALLACE, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur ; Rachel K. EARL, Auteur . - p.3365-3373. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-9 (September 2021) . - p.3365-3373 Mots-clés : Abdominal Pain/genetics  Autism Spectrum Disorder/epidemiology/genetics  Humans  Mutation  Risk Factors  Self-Injurious Behavior/epidemiology/genetics  Abdominal pain  Autism spectrum disorder  Intellectual disability  Rare genetic disorders  Self-injurious behavior  Inc. The remaining authors have no conflicts of interest to report. Index. décimale : PER Périodiques Résumé : Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that contribute to SIB in ASD are poorly understood. This study examined rates and predictors of SIB in 112 individuals with disruptive mutations to ASD-risk genes. Current SIB were reported in 30% of participants and associated with poorer cognitive and adaptive skills. History of severe abdominal pain predicted higher rates of SIB and SIB severity after controlling for age and adaptive behavior; individuals with a history of severe abdominal pain were eight times more likely to exhibit SIB than those with no history. Future research is needed to examine associations between genetic risk, pain, and SIB in this population. En ligne : http://dx.doi.org/10.1007/s10803-020-04774-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453

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

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency / Rachel K. EARL in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 54p. Titre : Clinical phenotype of ASD-associated DYRK1A haploinsufficiency Type de document : texte imprimé Auteurs : Rachel K. EARL, Auteur ; Tychele N. TURNER, Auteur ; Heather C. MEFFORD, Auteur ; Caitlin M. HUDAC, Auteur ; Jennifer GERDTS, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur Article en page(s) : 54p. Langues : Anglais (eng) Mots-clés : Autism  Clinical phenotype  Dyrk1a  Disruptive mutation  Genetic syndrome  Genetically defined subtype Index. décimale : PER Périodiques Résumé : BACKGROUND: DYRK1A is a gene recurrently disrupted in 0.1-0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech delay, and facial dysmorphisms. METHODS: Phenotypic information from previously published DYRK1A cases (n = 51) and participants in an ongoing study at the University of Washington (UW, n = 10) were compiled. Frequencies of recurrent phenotypic features in this population were compared to features observed in a large sample with idiopathic ASD from the Simons Simplex Collection (n = 1981). UW DYRK1A cases were further characterized quantitatively and compared to a randomly subsampled set of idiopathic ASD cases matched on age and gender (n = 10) and to cases with an ASD-associated disruptive mutation to CHD8 (n = 12). Contribution of familial genetic background to clinical heterogeneity was assessed by comparing head circumference, IQ, and ASD-related symptoms of UW DYRK1A cases to their unaffected parents. RESULTS: DYRK1A haploinsufficiency results in a common phenotypic profile including intellectual disability, speech and motor difficulties, microcephaly, feeding difficulties, and vision abnormalities. Eighty-nine percent of DYRK1A cases ascertained for ASD presented with a constellation of five or more of these symptoms. When compared quantitatively, DYRK1A cases presented with significantly lower IQ and adaptive functioning compared to idiopathic cases and significantly smaller head size compared to both idiopathic and CHD8 cases. Phenotypic variability in parental head circumference, IQ, and ASD-related symptoms corresponded to observed variability in affected child phenotype. CONCLUSIONS: Results confirm a core clinical phenotype for DYRK1A disruptions, with a combination of features that is distinct from idiopathic ASD. Cases with DYRK1A mutations are also distinguishable from disruptive mutations to CHD8 by head size. Measurable, quantitative characterization of DYRK1A haploinsufficiency illuminates clinical variability, which may be, in part, due to familial genetic background. En ligne : http://dx.doi.org/10.1186/s13229-017-0173-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 [article] Clinical phenotype of ASD-associated DYRK1A haploinsufficiency [texte imprimé] / Rachel K. EARL, Auteur ; Tychele N. TURNER, Auteur ; Heather C. MEFFORD, Auteur ; Caitlin M. HUDAC, Auteur ; Jennifer GERDTS, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur . - 54p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 54p. Mots-clés : Autism  Clinical phenotype  Dyrk1a  Disruptive mutation  Genetic syndrome  Genetically defined subtype Index. décimale : PER Périodiques Résumé : BACKGROUND: DYRK1A is a gene recurrently disrupted in 0.1-0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech delay, and facial dysmorphisms. METHODS: Phenotypic information from previously published DYRK1A cases (n = 51) and participants in an ongoing study at the University of Washington (UW, n = 10) were compiled. Frequencies of recurrent phenotypic features in this population were compared to features observed in a large sample with idiopathic ASD from the Simons Simplex Collection (n = 1981). UW DYRK1A cases were further characterized quantitatively and compared to a randomly subsampled set of idiopathic ASD cases matched on age and gender (n = 10) and to cases with an ASD-associated disruptive mutation to CHD8 (n = 12). Contribution of familial genetic background to clinical heterogeneity was assessed by comparing head circumference, IQ, and ASD-related symptoms of UW DYRK1A cases to their unaffected parents. RESULTS: DYRK1A haploinsufficiency results in a common phenotypic profile including intellectual disability, speech and motor difficulties, microcephaly, feeding difficulties, and vision abnormalities. Eighty-nine percent of DYRK1A cases ascertained for ASD presented with a constellation of five or more of these symptoms. When compared quantitatively, DYRK1A cases presented with significantly lower IQ and adaptive functioning compared to idiopathic cases and significantly smaller head size compared to both idiopathic and CHD8 cases. Phenotypic variability in parental head circumference, IQ, and ASD-related symptoms corresponded to observed variability in affected child phenotype. CONCLUSIONS: Results confirm a core clinical phenotype for DYRK1A disruptions, with a combination of features that is distinct from idiopathic ASD. Cases with DYRK1A mutations are also distinguishable from disruptive mutations to CHD8 by head size. Measurable, quantitative characterization of DYRK1A haploinsufficiency illuminates clinical variability, which may be, in part, due to familial genetic background. En ligne : http://dx.doi.org/10.1186/s13229-017-0173-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330

Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk / Anne B. ARNETT in Journal of Child Psychology and Psychiatry, 59-3 (March 2018)  

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

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Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms / Eric COURCHESNE in Molecular Autism, 15 (2024)  

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Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers / Caitlin M. HUDAC in Autism Research, 13-8 (August 2020)  

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Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism / Caitlin M. HUDAC in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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Genomic studies in fragile X premutation carriers / Reymundo LOZANO in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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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)  

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Prospective investigation of FOXP1 syndrome / Paige M. SIPER in Molecular Autism, 8 (2017)  

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Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders / Anne B. ARNETT in Journal of Neurodevelopmental Disorders, 13 (2021)  

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Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions / Emily NEUHAUS in Journal of Neurodevelopmental Disorders, 16 (2024)  

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