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: Prevalence of Attention Deficit/Hyperactivity Disorder Among Individuals with an Autism Spectrum Disorder / Ellen HANSON in Journal of Autism and Developmental Disorders, 43-6 (June 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-6 (June 2013) . - p.1459-1464 Titre : Brief Report: Prevalence of Attention Deficit/Hyperactivity Disorder Among Individuals with an Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Ellen HANSON, Auteur ; Bettina M. CERBAN, Auteur ; Chelsea M. SLATER, Auteur ; Laura M. CACCAMO, Auteur ; Janine BACIC, Auteur ; Eugenia CHAN, Auteur Article en page(s) : p.1459-1464 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Attention deficit hyperactivity disorder  Comorbidity  DSM-V Index. décimale : PER Périodiques Résumé : Currently, both the DSM-IV-TR and ICD-10 preclude the diagnosis of Attention Deficit/Hyperactivity Disorder (ADHD) in cases that present with an Autism Spectrum Disorder (ASD). This criterion will be removed in the upcoming DSM-V, but the relationship between ASD and ADHD, and in particular the prevalence of ADHD among the ASD population, remains controversial. Previous studies have reported clinically significant ADHD symptoms in one-third to three-quarters of ASD-affected individuals (probands). In our sample of 1,838 simplex children and adolescents with ASD, we found that less than 16 % met clinically significant levels of ADHD symptoms, per parent report. When both parent and teacher reports were considered, the comorbidity rate was even lower, at 2 %. En ligne : http://dx.doi.org/10.1007/s10803-012-1677-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201 [article] Brief Report: Prevalence of Attention Deficit/Hyperactivity Disorder Among Individuals with an Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Ellen HANSON, Auteur ; Bettina M. CERBAN, Auteur ; Chelsea M. SLATER, Auteur ; Laura M. CACCAMO, Auteur ; Janine BACIC, Auteur ; Eugenia CHAN, Auteur . - p.1459-1464. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-6 (June 2013) . - p.1459-1464 Mots-clés : Autism spectrum disorder  Attention deficit hyperactivity disorder  Comorbidity  DSM-V Index. décimale : PER Périodiques Résumé : Currently, both the DSM-IV-TR and ICD-10 preclude the diagnosis of Attention Deficit/Hyperactivity Disorder (ADHD) in cases that present with an Autism Spectrum Disorder (ASD). This criterion will be removed in the upcoming DSM-V, but the relationship between ASD and ADHD, and in particular the prevalence of ADHD among the ASD population, remains controversial. Previous studies have reported clinically significant ADHD symptoms in one-third to three-quarters of ASD-affected individuals (probands). In our sample of 1,838 simplex children and adolescents with ASD, we found that less than 16 % met clinically significant levels of ADHD symptoms, per parent report. When both parent and teacher reports were considered, the comorbidity rate was even lower, at 2 %. En ligne : http://dx.doi.org/10.1007/s10803-012-1677-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201

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)  

Public ISBD [article]  inAutism Research > 13-8 (August 2020) . - p.1300-1310 Titre : Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers Type de document : Texte imprimé et/ou numérique Auteurs : Caitlin M. HUDAC, Auteur ; Joanna BOVE, Auteur ; Shelley BARBER, Auteur ; Michael DUYZEND, Auteur ; Ari WALLACE, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; Ellen HANSON, Auteur ; Robin P GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.1300-1310 Langues : Anglais (eng) Mots-clés : 16p11.2 deletion  16p11.2 duplication  adaptive functioning  autism spectrum disorder  cognitive functioning  individual variability/heterogeneity Index. décimale : PER Périodiques Résumé : Individuals with 16p11.2 copy number variant (CNV) show considerable phenotypic heterogeneity. Although autism spectrum disorder (ASD) is reported in approximately 20-23% of individuals with 16p11.2 CNVs, ASD-associated symptoms are observed in those without a clinical ASD diagnosis. Previous work has shown that genetic variation and prenatal and perinatal birth complications influence ASD risk and symptom severity. This study examined the impact of genetic and environmental risk factors on phenotypic heterogeneity among 16p11.2 CNV carriers. Participants included individuals with a 16p11.2 deletion (N = 96) or duplication (N = 77) with exome sequencing from the Simons VIP study. The presence of prenatal factors, perinatal events, additional genetic events, and gender was studied. Regression analyses examined the contribution of each risk factor on ASD symptomatology, cognitive functioning, and adaptive abilities. For deletion carriers, perinatal and additional genetic events were associated with increased ASD symptomatology and decrements in cognitive and adaptive functioning. For duplication carriers, secondary genetic events were associated with greater cognitive impairments. Being female sex was a protective factor for both deletion and duplication carriers. Our findings suggest that ASD-associated risk factors contribute to the variability in symptom presentation in individuals with 16p11.2 CNVs. LAY SUMMARY: There are a wide range of autism spectrum disorder (ASD) symptoms and abilities observed for individuals with genetic changes of the 16p11.2 region. Here, we found perinatal complications contributed to more severe ASD symptoms (deletion carriers) and additional genetic mutations contributed to decreased cognitive abilities (deletion and duplication carriers). A potential protective factor was also observed for females with 16p11.2 variations. Autism Res 2020, 13: 1300-1310. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 [article] Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers [Texte imprimé et/ou numérique] / Caitlin M. HUDAC, Auteur ; Joanna BOVE, Auteur ; Shelley BARBER, Auteur ; Michael DUYZEND, Auteur ; Ari WALLACE, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; Ellen HANSON, Auteur ; Robin P GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur . - p.1300-1310. Langues : Anglais (eng) in Autism Research > 13-8 (August 2020) . - p.1300-1310 Mots-clés : 16p11.2 deletion  16p11.2 duplication  adaptive functioning  autism spectrum disorder  cognitive functioning  individual variability/heterogeneity Index. décimale : PER Périodiques Résumé : Individuals with 16p11.2 copy number variant (CNV) show considerable phenotypic heterogeneity. Although autism spectrum disorder (ASD) is reported in approximately 20-23% of individuals with 16p11.2 CNVs, ASD-associated symptoms are observed in those without a clinical ASD diagnosis. Previous work has shown that genetic variation and prenatal and perinatal birth complications influence ASD risk and symptom severity. This study examined the impact of genetic and environmental risk factors on phenotypic heterogeneity among 16p11.2 CNV carriers. Participants included individuals with a 16p11.2 deletion (N = 96) or duplication (N = 77) with exome sequencing from the Simons VIP study. The presence of prenatal factors, perinatal events, additional genetic events, and gender was studied. Regression analyses examined the contribution of each risk factor on ASD symptomatology, cognitive functioning, and adaptive abilities. For deletion carriers, perinatal and additional genetic events were associated with increased ASD symptomatology and decrements in cognitive and adaptive functioning. For duplication carriers, secondary genetic events were associated with greater cognitive impairments. Being female sex was a protective factor for both deletion and duplication carriers. Our findings suggest that ASD-associated risk factors contribute to the variability in symptom presentation in individuals with 16p11.2 CNVs. LAY SUMMARY: There are a wide range of autism spectrum disorder (ASD) symptoms and abilities observed for individuals with genetic changes of the 16p11.2 region. Here, we found perinatal complications contributed to more severe ASD symptoms (deletion carriers) and additional genetic mutations contributed to decreased cognitive abilities (deletion and duplication carriers). A potential protective factor was also observed for females with 16p11.2 variations. Autism Res 2020, 13: 1300-1310. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430

Use of Complementary and Alternative Medicine among Children Diagnosed with Autism Spectrum Disorder / Ellen HANSON in Journal of Autism and Developmental Disorders, 37-4 (April 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-4 (April 2007) . - p.628-636 Titre : Use of Complementary and Alternative Medicine among Children Diagnosed with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Ellen HANSON, Auteur ; Leslie A. KALISH, Auteur ; Emily BUNCE, Auteur ; Christine CURTIS, Auteur ; Samuel MCDANIEL, Auteur ; Janice WARE, Auteur ; Judith PETRY, Auteur Année de publication : 2007 Article en page(s) : p.628-636 Langues : Anglais (eng) Mots-clés : Autism Complementary Alternative-medicine Index. décimale : PER Périodiques Résumé : This study examined the prevalence of the use of different types of conventional, complementary and alternative therapies by children diagnosed with an autism spectrum disorder (ASD). Of 112 families surveyed, 74% were using complementary and alternative medicine (CAM) for their child with ASD. CAM use was most strongly associated with parent report of child’s diagnosis. Most CAM was reported by families to be either helpful or without effect, but not harmful. The main reasons for choosing CAM were related to concerns with the safety and side effects of prescribed medications. Conventional health care providers should be aware of the high prevalence of use among children with ASD and be prepared to discuss the use of CAM with families. En ligne : http://dx.doi.org/10.1007/s10803-006-0192-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=967 [article] Use of Complementary and Alternative Medicine among Children Diagnosed with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Ellen HANSON, Auteur ; Leslie A. KALISH, Auteur ; Emily BUNCE, Auteur ; Christine CURTIS, Auteur ; Samuel MCDANIEL, Auteur ; Janice WARE, Auteur ; Judith PETRY, Auteur . - 2007 . - p.628-636. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-4 (April 2007) . - p.628-636 Mots-clés : Autism Complementary Alternative-medicine Index. décimale : PER Périodiques Résumé : This study examined the prevalence of the use of different types of conventional, complementary and alternative therapies by children diagnosed with an autism spectrum disorder (ASD). Of 112 families surveyed, 74% were using complementary and alternative medicine (CAM) for their child with ASD. CAM use was most strongly associated with parent report of child’s diagnosis. Most CAM was reported by families to be either helpful or without effect, but not harmful. The main reasons for choosing CAM were related to concerns with the safety and side effects of prescribed medications. Conventional health care providers should be aware of the high prevalence of use among children with ASD and be prepared to discuss the use of CAM with families. En ligne : http://dx.doi.org/10.1007/s10803-006-0192-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=967

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