Documents disponibles écrits par cet auteur

Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome / S. U. PETERS in Journal of Autism and Developmental Disorders, 43-10 (October 2013) 

Public ISBD [article]  in Journal of Autism and Developmental Disorders > 43-10 (October 2013) . - p.2484-2490 Titre : Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome Type de document : texte imprimé Auteurs : S. U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; A. K. WILSON, Auteur ; C. M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; M. B. RAMOCKI, Auteur Article en page(s) : p.2484-2490 Langues : Anglais (eng) Mots-clés : Regression  MECP2  Seizures Index. décimale : PER Périodiques Résumé : The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with MECP2 duplication syndrome. Information about regression was gathered via parent report. Eight of 17 boys exhibited regression in language skills, while seven of 17 exhibited regression in other skill areas. Regression in “other skill” areas coincided with seizure onset and with a prior autism diagnosis in six of seven participants. Regression was not associated with duplication size. Questions remain as to why some boys regress, and future work is necessary to understand the underlying mechanism(s) that causes regression. En ligne : http://dx.doi.org/10.1007/s10803-013-1796-9 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2154 [article] Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome [texte imprimé] / S. U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; A. K. WILSON, Auteur ; C. M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; M. B. RAMOCKI, Auteur . - p.2484-2490. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-10 (October 2013) . - p.2484-2490 Mots-clés : Regression  MECP2  Seizures Index. décimale : PER Périodiques Résumé : The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with MECP2 duplication syndrome. Information about regression was gathered via parent report. Eight of 17 boys exhibited regression in language skills, while seven of 17 exhibited regression in other skill areas. Regression in “other skill” areas coincided with seizure onset and with a prior autism diagnosis in six of seven participants. Regression was not associated with duplication size. Questions remain as to why some boys regress, and future work is necessary to understand the underlying mechanism(s) that causes regression. En ligne : http://dx.doi.org/10.1007/s10803-013-1796-9 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2154

Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection / Julie DAVIDSON in Journal of Autism and Developmental Disorders, 44-10 (October 2014) 

Public ISBD [article]  in Journal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2392-2399 Titre : Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection Type de document : texte imprimé Auteurs : Julie DAVIDSON, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Lee Anne GREEN-SNYDER, Auteur ; Rachel J. HUNDLEY, Auteur ; Zachary WARREN, Auteur ; Sarika U. PETERS, Auteur Article en page(s) : p.2392-2399 Langues : Anglais (eng) Mots-clés : Autism  Broad autism phenotype Index. décimale : PER Périodiques Résumé : The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest in non-autistic relatives. This study examined the relationship among the Broad Autism Phenotype Questionnaire (BAPQ), Social Responsiveness Scale: Adult Research Version (SRS:ARV), and Family History Interview (FHI) in a large, multi-site study of 1,650 simplex families (Simons Simplex Collection). Correlations between the BAPQ and SRS:ARV Total scores were moderate, and correlations between FHI ratings and SRS:ARV and BAPQ were significant but weak. Overall, the results suggested that BAP traits occur at low rates in simplex families, and rates vary significantly depending upon the measure utilized. Implications include the need for multiple informants, and the assessment of distinct BAP traits in large-scale genetic studies of individuals with ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1492-1 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2407 [article] Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection [texte imprimé] / Julie DAVIDSON, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Lee Anne GREEN-SNYDER, Auteur ; Rachel J. HUNDLEY, Auteur ; Zachary WARREN, Auteur ; Sarika U. PETERS, Auteur . - p.2392-2399. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2392-2399 Mots-clés : Autism  Broad autism phenotype Index. décimale : PER Périodiques Résumé : The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest in non-autistic relatives. This study examined the relationship among the Broad Autism Phenotype Questionnaire (BAPQ), Social Responsiveness Scale: Adult Research Version (SRS:ARV), and Family History Interview (FHI) in a large, multi-site study of 1,650 simplex families (Simons Simplex Collection). Correlations between the BAPQ and SRS:ARV Total scores were moderate, and correlations between FHI ratings and SRS:ARV and BAPQ were significant but weak. Overall, the results suggested that BAP traits occur at low rates in simplex families, and rates vary significantly depending upon the measure utilized. Implications include the need for multiple informants, and the assessment of distinct BAP traits in large-scale genetic studies of individuals with ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1492-1 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2407

Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class / Sarika U. PETERS in Journal of Child Psychology and Psychiatry, 53-2 (February 2012) 

Public ISBD [article]  in Journal of Child Psychology and Psychiatry > 53-2 (February 2012) . - p.152-159 Titre : Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class Type de document : texte imprimé Auteurs : Sarika U. PETERS, Auteur ; Lucia HOROWITZ, Auteur ; Rene BARBIERI-WELGE, Auteur ; Julie LOUNDS TAYLOR, Auteur ; Rachel J. HUNDLEY, Auteur Année de publication : 2012 Article en page(s) : p.152-159 Langues : Anglais (eng) Mots-clés : Chromosome anomalies  autistic disorder  cognition  adaptive behavior  longitudinal studies Index. décimale : PER Périodiques Résumé : Background:  Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual disability, lack of speech, and low threshold for laughter; it is considered a ‘syndromic’ form of autism spectrum disorder (ASD). Previous studies have indicated overlap of ASD and AS, primarily in individuals with larger (∼6 Mb) Class I deletions of chromosome 15q11-13. Questions remain regarding whether intellectual disability solely contributes to ASD features in AS and how ASD features in AS change over time. In this study, we used a dimensional approach to examine ASD symptom severity in individuals with AS Class I versus Class II deletions within the context of cognitive development over time. Methods:  A total of 17 participants with a larger, Class I deletion and 25 participants with a smaller Class II deletion (∼5 Mb) were enrolled (age range = 2–25 years; 5 years 5 months). Standardized measures of cognition, language, motor skills, adaptive skills, maladaptive behavior, autism, and sensory-seeking behaviors/aversions were given at baseline and after 12 months. Results:  Despite equivalent cognition and adaptive behavior, the results of repeated measures analyses of variance indicate that participants with Class I deletions have greater impairment in social affect (F = 8.65; p = .006) and more repetitive behaviors (F = 7.92; p = .008) compared to participants with Class II deletions. Although both groups improve in cognition over time, differences in ASD behaviors persist. Conclusions:  Despite a lack of differences in cognition or adaptive behavior, individuals with Class I deletions have greater severity in ASD features and sensory aversions that remain over time. There are four genes (NIPA 1, NIPA 2, CYFIP1, and GCP5) missing in Class I and present in Class Il deletions, one or more of which may have a role in modifying the severity of social affect impairment, and level of restricted/repetitive behaviors in AS. Our results also suggest the utility of a dimensional, longitudinal approach to the assessment of ASD features in populations of individuals who are low functioning. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02455.x Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=1509 [article] Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class [texte imprimé] / Sarika U. PETERS, Auteur ; Lucia HOROWITZ, Auteur ; Rene BARBIERI-WELGE, Auteur ; Julie LOUNDS TAYLOR, Auteur ; Rachel J. HUNDLEY, Auteur . - 2012 . - p.152-159. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 53-2 (February 2012) . - p.152-159 Mots-clés : Chromosome anomalies  autistic disorder  cognition  adaptive behavior  longitudinal studies Index. décimale : PER Périodiques Résumé : Background:  Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual disability, lack of speech, and low threshold for laughter; it is considered a ‘syndromic’ form of autism spectrum disorder (ASD). Previous studies have indicated overlap of ASD and AS, primarily in individuals with larger (∼6 Mb) Class I deletions of chromosome 15q11-13. Questions remain regarding whether intellectual disability solely contributes to ASD features in AS and how ASD features in AS change over time. In this study, we used a dimensional approach to examine ASD symptom severity in individuals with AS Class I versus Class II deletions within the context of cognitive development over time. Methods:  A total of 17 participants with a larger, Class I deletion and 25 participants with a smaller Class II deletion (∼5 Mb) were enrolled (age range = 2–25 years; 5 years 5 months). Standardized measures of cognition, language, motor skills, adaptive skills, maladaptive behavior, autism, and sensory-seeking behaviors/aversions were given at baseline and after 12 months. Results:  Despite equivalent cognition and adaptive behavior, the results of repeated measures analyses of variance indicate that participants with Class I deletions have greater impairment in social affect (F = 8.65; p = .006) and more repetitive behaviors (F = 7.92; p = .008) compared to participants with Class II deletions. Although both groups improve in cognition over time, differences in ASD behaviors persist. Conclusions:  Despite a lack of differences in cognition or adaptive behavior, individuals with Class I deletions have greater severity in ASD features and sensory aversions that remain over time. There are four genes (NIPA 1, NIPA 2, CYFIP1, and GCP5) missing in Class I and present in Class Il deletions, one or more of which may have a role in modifying the severity of social affect impairment, and level of restricted/repetitive behaviors in AS. Our results also suggest the utility of a dimensional, longitudinal approach to the assessment of ASD features in populations of individuals who are low functioning. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02455.x Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=1509

Parent-Based Sleep Education for Children with Autism Spectrum Disorders / Beth A. MALOW in Journal of Autism and Developmental Disorders, 44-1 (January 2014) 

Public ISBD [article]  in Journal of Autism and Developmental Disorders > 44-1 (January 2014) . - p.216-228 Titre : Parent-Based Sleep Education for Children with Autism Spectrum Disorders Type de document : texte imprimé Auteurs : Beth A. MALOW, Auteur ; Karen W. ADKINS, Auteur ; Ann REYNOLDS, Auteur ; Shelly K. WEISS, Auteur ; Alvin LOH, Auteur ; Diane FAWKES, Auteur ; Terry KATZ, Auteur ; Suzanne E. GOLDMAN, Auteur ; Niru MADDURI, Auteur ; Rachel J. HUNDLEY, Auteur ; Traci E. CLEMONS, Auteur Article en page(s) : p.216-228 Langues : Anglais (eng) Mots-clés : Insomnia  Actigraphy  Children’s Sleep Habits Questionnaire  Repetitive Behavior Scale-Revised  Child Behavior Checklist Index. décimale : PER Périodiques Résumé : This study provided sleep education to parents of children with autism spectrum disorder (ASD) to determine whether an individual or group format was more effective in improving sleep and aspects of daytime behavior and family functioning. Eighty children, ages 2–10 years, with ASD and sleep onset delay completed the study. Actigraphy and parent questionnaires were collected at baseline and 1 month after treatment. Mode of education did not affect outcomes. Sleep latency, insomnia subscales on the Children’s Sleep Habits Questionnaire, and other outcomes related to child and family functioning improved with treatment. Parent-based sleep education, delivered in relatively few sessions, was associated with improved sleep onset delay in children with ASD. Group versus individualized education did not affect outcome. En ligne : http://dx.doi.org/10.1007/s10803-013-1866-z Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2207 [article] Parent-Based Sleep Education for Children with Autism Spectrum Disorders [texte imprimé] / Beth A. MALOW, Auteur ; Karen W. ADKINS, Auteur ; Ann REYNOLDS, Auteur ; Shelly K. WEISS, Auteur ; Alvin LOH, Auteur ; Diane FAWKES, Auteur ; Terry KATZ, Auteur ; Suzanne E. GOLDMAN, Auteur ; Niru MADDURI, Auteur ; Rachel J. HUNDLEY, Auteur ; Traci E. CLEMONS, Auteur . - p.216-228. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-1 (January 2014) . - p.216-228 Mots-clés : Insomnia  Actigraphy  Children’s Sleep Habits Questionnaire  Repetitive Behavior Scale-Revised  Child Behavior Checklist Index. décimale : PER Périodiques Résumé : This study provided sleep education to parents of children with autism spectrum disorder (ASD) to determine whether an individual or group format was more effective in improving sleep and aspects of daytime behavior and family functioning. Eighty children, ages 2–10 years, with ASD and sleep onset delay completed the study. Actigraphy and parent questionnaires were collected at baseline and 1 month after treatment. Mode of education did not affect outcomes. Sleep latency, insomnia subscales on the Children’s Sleep Habits Questionnaire, and other outcomes related to child and family functioning improved with treatment. Parent-based sleep education, delivered in relatively few sessions, was associated with improved sleep onset delay in children with ASD. Group versus individualized education did not affect outcome. En ligne : http://dx.doi.org/10.1007/s10803-013-1866-z Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2207

A Prospective Study of the Concordance of DSM-IV and DSM-5 Diagnostic Criteria for Autism Spectrum Disorder / Micah O. MAZUREK in Journal of Autism and Developmental Disorders, 47-9 (September 2017) 

Public ISBD [article]  in Journal of Autism and Developmental Disorders > 47-9 (September 2017) . - p.2783-2794 Titre : A Prospective Study of the Concordance of DSM-IV and DSM-5 Diagnostic Criteria for Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Micah O. MAZUREK, Auteur ; Frances LU, Auteur ; Heather SYMECKO, Auteur ; Eric BUTTER, Auteur ; Nicole M. BING, Auteur ; Rachel J. HUNDLEY, Auteur ; Marie POULSEN, Auteur ; Stephen M. KANNE, Auteur ; Eric A. MACKLIN, Auteur ; Benjamin L. HANDEN, Auteur Article en page(s) : p.2783-2794 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  DSM-5  Concordance  Sensitivity  Specificity Index. décimale : PER Périodiques Résumé : The transition from DSM-IV to DSM-5 criteria for autism spectrum disorder (ASD) sparked considerable concern about the potential implications of these changes. This study was designed to address limitations of prior studies by prospectively examining the concordance of DSM-IV and final DSM-5 criteria on a consecutive sample of 439 children referred for autism diagnostic evaluations. Concordance and discordance were assessed using a consistent diagnostic battery. DSM-5 criteria demonstrated excellent overall specificity and good sensitivity relative to DSM-IV criteria. Sensitivity and specificity were strongest for children meeting DSM-IV criteria for autistic disorder, but poor for those meeting criteria for Asperger’s disorder and pervasive developmental disorder. Higher IQ, older age, female sex, and less pronounced ASD symptoms were associated with greater discordance. En ligne : https://doi.org/10.1007/s10803-017-3200-7 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3158 [article] A Prospective Study of the Concordance of DSM-IV and DSM-5 Diagnostic Criteria for Autism Spectrum Disorder [texte imprimé] / Micah O. MAZUREK, Auteur ; Frances LU, Auteur ; Heather SYMECKO, Auteur ; Eric BUTTER, Auteur ; Nicole M. BING, Auteur ; Rachel J. HUNDLEY, Auteur ; Marie POULSEN, Auteur ; Stephen M. KANNE, Auteur ; Eric A. MACKLIN, Auteur ; Benjamin L. HANDEN, Auteur . - p.2783-2794. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-9 (September 2017) . - p.2783-2794 Mots-clés : Autism spectrum disorder  DSM-5  Concordance  Sensitivity  Specificity Index. décimale : PER Périodiques Résumé : The transition from DSM-IV to DSM-5 criteria for autism spectrum disorder (ASD) sparked considerable concern about the potential implications of these changes. This study was designed to address limitations of prior studies by prospectively examining the concordance of DSM-IV and final DSM-5 criteria on a consecutive sample of 439 children referred for autism diagnostic evaluations. Concordance and discordance were assessed using a consistent diagnostic battery. DSM-5 criteria demonstrated excellent overall specificity and good sensitivity relative to DSM-IV criteria. Sensitivity and specificity were strongest for children meeting DSM-IV criteria for autistic disorder, but poor for those meeting criteria for Asperger’s disorder and pervasive developmental disorder. Higher IQ, older age, female sex, and less pronounced ASD symptoms were associated with greater discordance. En ligne : https://doi.org/10.1007/s10803-017-3200-7 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3158

Relationship Between Subtypes of Restricted and Repetitive Behaviors and Sleep Disturbance in Autism Spectrum Disorder / Rachel J. HUNDLEY in Journal of Autism and Developmental Disorders, 46-11 (November 2016) 

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The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism / Sarika U. PETERS in Autism Research, 6-1 (February 2013) 

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