Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication / LeeAnne GREEN SNYDER in Journal of Autism and Developmental Disorders, 46-8 (August 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Titre : Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication Type de document : Texte imprimé et/ou numérique Auteurs : LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily KUSCHNER, Auteur ; Timothy ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa L. MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur Article en page(s) : p.2734-2748 Langues : Anglais (eng) Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291 [article] Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication [Texte imprimé et/ou numérique] / LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily KUSCHNER, Auteur ; Timothy ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa L. MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur . - p.2734-2748. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291

Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations / E. 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 et/ou numérique Auteurs : E. C. KURTZ-NELSON, Auteur ; S. W. THAM, Auteur ; K. AHLERS, Auteur ; D. CHO, Auteur ; Arianne S. WALLACE, Auteur ; E. E. EICHLER, Auteur ; Raphael BERNIER, Auteur ; R. 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 et/ou numérique] / E. C. KURTZ-NELSON, Auteur ; S. W. THAM, Auteur ; K. AHLERS, Auteur ; D. CHO, Auteur ; Arianne S. WALLACE, Auteur ; E. E. EICHLER, Auteur ; Raphael BERNIER, Auteur ; R. 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

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)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 59-3 (March 2018) . - p.268-276 Titre : Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk Type de document : Texte imprimé et/ou numérique Auteurs : Anne B. ARNETT, Auteur ; Brianna E. CAIRNEY, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Tychele N. TURNER, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.268-276 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://doi.org/10.1111/jcpp.12815 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=339 [article] Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk [Texte imprimé et/ou numérique] / Anne B. ARNETT, Auteur ; Brianna E. CAIRNEY, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Tychele N. TURNER, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur . - p.268-276. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 59-3 (March 2018) . - p.268-276 Index. décimale : PER Périodiques En ligne : https://doi.org/10.1111/jcpp.12815 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=339

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

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 57p. Titre : Prospective investigation of FOXP1 syndrome Type de document : Texte imprimé et/ou numérique Auteurs : P. M. SIPER, Auteur ; S. DE RUBEIS, Auteur ; M. D. P. TRELLES, Auteur ; A. DURKIN, Auteur ; D. DI MARINO, Auteur ; F. MURATET, Auteur ; Y. FRANK, Auteur ; R. LOZANO, Auteur ; E. E. EICHLER, Auteur ; M. KELLY, Auteur ; Jennifer BEIGHLEY, Auteur ; J. GERDTS, Auteur ; Arianne S. WALLACE, Auteur ; H. C. MEFFORD, Auteur ; Raphael BERNIER, Auteur ; A. KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur Article en page(s) : 57p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disability, language impairment, and psychiatric features. The goal of the present study was to comprehensively characterize the genetic and clinical spectrum of FOXP1 syndrome. This is the first study to prospectively examine the genotype-phenotype relationship in multiple individuals with FOXP1 syndrome, using a battery of standardized clinical assessments. METHODS: Genetic and clinical data was obtained and analyzed from nine children and adolescents between the ages of 5-17 with mutations in FOXP1. Phenotypic characterization included gold standard ASD testing and norm-referenced measures of cognition, adaptive behavior, language, motor, and visual-motor integration skills. In addition, psychiatric, medical, neurological, and dysmorphology examinations were completed by a multidisciplinary team of clinicians. A comprehensive review of reported cases was also performed. All missense and in-frame mutations were mapped onto the three-dimensional structure of DNA-bound FOXP1. RESULTS: We have identified nine de novo mutations, including three frameshift, one nonsense, one mutation in an essential splice site resulting in frameshift and insertion of a premature stop codon, three missense, and one in-frame deletion. Reviewing prior literature, we found seven instances of recurrent mutations and another 34 private mutations. The majority of pathogenic missense and in-frame mutations, including all four missense mutations in our cohort, lie in the DNA-binding domain. Through structural analyses, we show that the mutations perturb amino acids necessary for binding to the DNA or interfere with the domain swapping that mediates FOXP1 dimerization. Individuals with FOXP1 syndrome presented with delays in early motor and language milestones, language impairment (expressive language > receptive language), ASD symptoms, visual-motor integration deficits, and complex psychiatric presentations characterized by anxiety, obsessive-compulsive traits, attention deficits, and externalizing symptoms. Medical features included non-specific structural brain abnormalities and dysmorphic features, endocrine and gastrointestinal problems, sleep disturbances, and sinopulmonary infections. CONCLUSIONS: This study identifies novel FOXP1 mutations associated with FOXP1 syndrome, identifies recurrent mutations, and demonstrates significant clustering of missense mutations in the DNA-binding domain. Clinical findings confirm the role FOXP1 plays in development across multiple domains of functioning. The genetic findings can be incorporated into clinical genetics practice to improve accurate genetic diagnosis of FOXP1 syndrome and the clinical findings can inform monitoring and treatment of individuals with FOXP1 syndrome. En ligne : http://dx.doi.org/10.1186/s13229-017-0172-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331 [article] Prospective investigation of FOXP1 syndrome [Texte imprimé et/ou numérique] / P. M. SIPER, Auteur ; S. DE RUBEIS, Auteur ; M. D. P. TRELLES, Auteur ; A. DURKIN, Auteur ; D. DI MARINO, Auteur ; F. MURATET, Auteur ; Y. FRANK, Auteur ; R. LOZANO, Auteur ; E. E. EICHLER, Auteur ; M. KELLY, Auteur ; Jennifer BEIGHLEY, Auteur ; J. GERDTS, Auteur ; Arianne S. WALLACE, Auteur ; H. C. MEFFORD, Auteur ; Raphael BERNIER, Auteur ; A. KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur . - 57p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 57p. Index. décimale : PER Périodiques Résumé : BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disability, language impairment, and psychiatric features. The goal of the present study was to comprehensively characterize the genetic and clinical spectrum of FOXP1 syndrome. This is the first study to prospectively examine the genotype-phenotype relationship in multiple individuals with FOXP1 syndrome, using a battery of standardized clinical assessments. METHODS: Genetic and clinical data was obtained and analyzed from nine children and adolescents between the ages of 5-17 with mutations in FOXP1. Phenotypic characterization included gold standard ASD testing and norm-referenced measures of cognition, adaptive behavior, language, motor, and visual-motor integration skills. In addition, psychiatric, medical, neurological, and dysmorphology examinations were completed by a multidisciplinary team of clinicians. A comprehensive review of reported cases was also performed. All missense and in-frame mutations were mapped onto the three-dimensional structure of DNA-bound FOXP1. RESULTS: We have identified nine de novo mutations, including three frameshift, one nonsense, one mutation in an essential splice site resulting in frameshift and insertion of a premature stop codon, three missense, and one in-frame deletion. Reviewing prior literature, we found seven instances of recurrent mutations and another 34 private mutations. The majority of pathogenic missense and in-frame mutations, including all four missense mutations in our cohort, lie in the DNA-binding domain. Through structural analyses, we show that the mutations perturb amino acids necessary for binding to the DNA or interfere with the domain swapping that mediates FOXP1 dimerization. Individuals with FOXP1 syndrome presented with delays in early motor and language milestones, language impairment (expressive language > receptive language), ASD symptoms, visual-motor integration deficits, and complex psychiatric presentations characterized by anxiety, obsessive-compulsive traits, attention deficits, and externalizing symptoms. Medical features included non-specific structural brain abnormalities and dysmorphic features, endocrine and gastrointestinal problems, sleep disturbances, and sinopulmonary infections. CONCLUSIONS: This study identifies novel FOXP1 mutations associated with FOXP1 syndrome, identifies recurrent mutations, and demonstrates significant clustering of missense mutations in the DNA-binding domain. Clinical findings confirm the role FOXP1 plays in development across multiple domains of functioning. The genetic findings can be incorporated into clinical genetics practice to improve accurate genetic diagnosis of FOXP1 syndrome and the clinical findings can inform monitoring and treatment of individuals with FOXP1 syndrome. En ligne : http://dx.doi.org/10.1186/s13229-017-0172-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331

The autism spectrum phenotype in ADNP syndrome / Anne B. ARNETT in Autism Research, 11-9 (September 2018)  

Public ISBD [article]  inAutism Research > 11-9 (September 2018) . - p.1300-1310 Titre : The autism spectrum phenotype in ADNP syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Anne B. ARNETT, Auteur ; C. L. RHOADS, Auteur ; K. HOEKZEMA, Auteur ; Tychele N. TURNER, Auteur ; J. GERDTS, Auteur ; Arianne S. WALLACE, Auteur ; S. BEDROSIAN-SERMONE, Auteur ; E. E. EICHLER, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.1300-1310 Langues : Anglais (eng) Mots-clés : Adnp  autism spectrum disorder  developmental disorder  genetic syndrome  intellectual disability Index. décimale : PER Périodiques Résumé : Pathogenic disruptions to the activity-dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and hypotonia. However, the profile of ASD symptoms associated with ADNP may differ from that of individuals with another ASD-associated single gene disruption or with ASD without a known genetic cause. The current study examined the ASD phenotype in a sample of representative youth with ADNP disruptions. Participants (N = 116, ages 4-22 years) included a cohort with ADNP mutations (n = 11) and three comparison groups with either a mutation to CHD8 (n = 11), a mutation to another ASD-associated gene (other mutation; n = 53), or ASD with no known genetic etiology (idiopathic ASD; n = 41). As expected, individuals with ADNP disruptions had higher rates of ID but less severe social affect symptoms compared to the CHD8 and Idiopathic ASD groups. In addition, verbal intelligence explained more variance in social impairment in the ADNP group compared to CHD8, other mutation, and idiopathic ASD comparison groups. Restricted and repetitive behaviors in the ADNP group were characterized by high levels of stereotyped motor behaviors, whereas the idiopathic ASD group showed high levels of restricted interests. Taken together, these results underscore the role of ADNP in cognitive functioning and suggest that social impairments in ADNP syndrome are consistent with severity of verbal deficits. Autism Res 2018, 11: 1300-1310. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Disruptions to the ADNP gene (i.e., ADNP syndrome) have been associated with autism spectrum disorder (ASD). This article describes intellectual disability, mild social difficulties, and severe repetitive motor movements in a group of 11 youth with ADNP Syndrome. We found lower rates of ASD than previously reported. Verbal skills explained individual variability in social impairment. This pattern suggests that the ADNP gene is primarily associated with learning and memory, and level of social difficulties is consistent with level of verbal impairment. En ligne : http://dx.doi.org/10.1002/aur.1980 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369 [article] The autism spectrum phenotype in ADNP syndrome [Texte imprimé et/ou numérique] / Anne B. ARNETT, Auteur ; C. L. RHOADS, Auteur ; K. HOEKZEMA, Auteur ; Tychele N. TURNER, Auteur ; J. GERDTS, Auteur ; Arianne S. WALLACE, Auteur ; S. BEDROSIAN-SERMONE, Auteur ; E. E. EICHLER, Auteur ; Raphael BERNIER, Auteur . - p.1300-1310. Langues : Anglais (eng) in Autism Research > 11-9 (September 2018) . - p.1300-1310 Mots-clés : Adnp  autism spectrum disorder  developmental disorder  genetic syndrome  intellectual disability Index. décimale : PER Périodiques Résumé : Pathogenic disruptions to the activity-dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and hypotonia. However, the profile of ASD symptoms associated with ADNP may differ from that of individuals with another ASD-associated single gene disruption or with ASD without a known genetic cause. The current study examined the ASD phenotype in a sample of representative youth with ADNP disruptions. Participants (N = 116, ages 4-22 years) included a cohort with ADNP mutations (n = 11) and three comparison groups with either a mutation to CHD8 (n = 11), a mutation to another ASD-associated gene (other mutation; n = 53), or ASD with no known genetic etiology (idiopathic ASD; n = 41). As expected, individuals with ADNP disruptions had higher rates of ID but less severe social affect symptoms compared to the CHD8 and Idiopathic ASD groups. In addition, verbal intelligence explained more variance in social impairment in the ADNP group compared to CHD8, other mutation, and idiopathic ASD comparison groups. Restricted and repetitive behaviors in the ADNP group were characterized by high levels of stereotyped motor behaviors, whereas the idiopathic ASD group showed high levels of restricted interests. Taken together, these results underscore the role of ADNP in cognitive functioning and suggest that social impairments in ADNP syndrome are consistent with severity of verbal deficits. Autism Res 2018, 11: 1300-1310. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Disruptions to the ADNP gene (i.e., ADNP syndrome) have been associated with autism spectrum disorder (ASD). This article describes intellectual disability, mild social difficulties, and severe repetitive motor movements in a group of 11 youth with ADNP Syndrome. We found lower rates of ASD than previously reported. Verbal skills explained individual variability in social impairment. This pattern suggests that the ADNP gene is primarily associated with learning and memory, and level of social difficulties is consistent with level of verbal impairment. En ligne : http://dx.doi.org/10.1002/aur.1980 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369

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