Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition / Angela GWALTNEY in Journal of Autism and Developmental Disorders, 54-10 (October 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-10 (October 2024) . - p.3863-3887 Titre : Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition Type de document : texte imprimé Auteurs : Angela GWALTNEY, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Rene L. BARBIERI-WELGE, Auteur ; Lucia T. HOROWITZ, Auteur ; Lisa M. NOLL, Auteur ; Rachel J. HUNDLEY, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur ; Anjali SADHWANI, Auteur ; Anne WHEELER, Auteur Article en page(s) : p.3863-3887 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive Behavior Scales, 2nd Edition. Multilevel linear models were used to examine differences between molecular subtypes over time, from one year to 13 years of age, in the adaptive domains of communication, daily living skills, socialization and motor skills. Individuals with non-deletion subtypes typically demonstrated a higher level of adaptive skills compared to those with deletion subtypes. Statistically significant growth was observed in all adaptive domains through at least early adolescence. Individuals with AS should continue to receive developmental services and educational supports through adolescence and into adulthood given the slow rates of growth being observed across adaptive domains. En ligne : https://doi.org/10.1007/s10803-023-06090-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=536 [article] Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition [texte imprimé] / Angela GWALTNEY, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Rene L. BARBIERI-WELGE, Auteur ; Lucia T. HOROWITZ, Auteur ; Lisa M. NOLL, Auteur ; Rachel J. HUNDLEY, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur ; Anjali SADHWANI, Auteur ; Anne WHEELER, Auteur . - p.3863-3887. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-10 (October 2024) . - p.3863-3887 Index. décimale : PER Périodiques Résumé : In the current study, we examined adaptive skills and trajectories over time in 257 individuals with Angelman syndrome (AS) using the Vineland Adaptive Behavior Scales, 2nd Edition. Multilevel linear models were used to examine differences between molecular subtypes over time, from one year to 13 years of age, in the adaptive domains of communication, daily living skills, socialization and motor skills. Individuals with non-deletion subtypes typically demonstrated a higher level of adaptive skills compared to those with deletion subtypes. Statistically significant growth was observed in all adaptive domains through at least early adolescence. Individuals with AS should continue to receive developmental services and educational supports through adolescence and into adulthood given the slow rates of growth being observed across adaptive domains. En ligne : https://doi.org/10.1007/s10803-023-06090-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=536

Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency / Paolo MORETTI in Journal of Autism and Developmental Disorders, 38-6 (July 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-6 (July 2008) . - p.1170-1177 Titre : Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency Type de document : texte imprimé Auteurs : Paolo MORETTI, Auteur ; David GOLDMAN, Auteur ; Carlos A. BACINO, Auteur ; Benjamin ROA, Auteur ; Sang Hee MIN, Auteur ; Elizabeth PEACH, Auteur ; Robert J. HOPKIN, Auteur ; Teodoro BOTTIGLIERI, Auteur ; Keith HYLAND, Auteur ; Trilochan SAHOO, Auteur ; Daniela DEL GAUDIO, Auteur ; Sarika U. PETERS, Auteur ; Fernando SCAGLIA, Auteur Année de publication : 2008 Article en page(s) : p.1170-1177 Langues : Anglais (eng) Mots-clés : Folic-Acid 5-methyltetrahydrofolate 5-MTHF Cerebral-folate-deficiency Folate-transporters Autism Index. décimale : PER Périodiques Résumé : We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had seizures; four demonstrated neurological abnormalities in the neonatal period. Two subjects had profound neurological abnormalities that precluded formal behavioral testing. Five subjects received ADOS and ADI-R testing and met diagnostic criteria for autism or autism spectrum disorders. They exhibited difficulties with transitions, insistence on sameness, unusual sensory interests, and repetitive behaviors. Those with the best language skills largely used repetitive phrases. No mutations were found in folate transporter or folate enzyme genes. These findings demonstrate that autistic features are salient in CFD and suggest that a subset of children with developmental regression, mental retardation, seizures, dyskinesia, and autism may have CNS folate abnormalities. En ligne : http://dx.doi.org/10.1007/s10803-007-0492-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475 [article] Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency [texte imprimé] / Paolo MORETTI, Auteur ; David GOLDMAN, Auteur ; Carlos A. BACINO, Auteur ; Benjamin ROA, Auteur ; Sang Hee MIN, Auteur ; Elizabeth PEACH, Auteur ; Robert J. HOPKIN, Auteur ; Teodoro BOTTIGLIERI, Auteur ; Keith HYLAND, Auteur ; Trilochan SAHOO, Auteur ; Daniela DEL GAUDIO, Auteur ; Sarika U. PETERS, Auteur ; Fernando SCAGLIA, Auteur . - 2008 . - p.1170-1177. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-6 (July 2008) . - p.1170-1177 Mots-clés : Folic-Acid 5-methyltetrahydrofolate 5-MTHF Cerebral-folate-deficiency Folate-transporters Autism Index. décimale : PER Périodiques Résumé : We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had seizures; four demonstrated neurological abnormalities in the neonatal period. Two subjects had profound neurological abnormalities that precluded formal behavioral testing. Five subjects received ADOS and ADI-R testing and met diagnostic criteria for autism or autism spectrum disorders. They exhibited difficulties with transitions, insistence on sameness, unusual sensory interests, and repetitive behaviors. Those with the best language skills largely used repetitive phrases. No mutations were found in folate transporter or folate enzyme genes. These findings demonstrate that autistic features are salient in CFD and suggest that a subset of children with developmental regression, mental retardation, seizures, dyskinesia, and autism may have CNS folate abnormalities. En ligne : http://dx.doi.org/10.1007/s10803-007-0492-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475

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

Public ISBD [article]  inJournal 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 : Sarika U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; Amy K. WILSON, Auteur ; Claudia 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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=215 [article] Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome [texte imprimé] / Sarika U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; Amy K. WILSON, Auteur ; Claudia 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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=215

Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III / Anne WHEELER ; Angela GWALTNEY ; Sarika U. PETERS ; Rene L. BARBIERI-WELGE ; Lucia T. HOROWITZ ; Lisa M. NOLL ; Rachel J. HUNDLEY ; Lynne M. BIRD ; Wen-Hann TAN in Journal of Autism and Developmental Disorders, 53-2 (February 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-2 (February 2023) . - p.720-737 Titre : Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III Type de document : texte imprimé Auteurs : Anne WHEELER, Auteur ; Angela GWALTNEY, Auteur ; Sarika U. PETERS, Auteur ; Rene L. BARBIERI-WELGE, Auteur ; Lucia T. HOROWITZ, Auteur ; Lisa M. NOLL, Auteur ; Rachel J. HUNDLEY, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur Article en page(s) : p.720-737 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age 12 years of age at about 1-2 months/year based on age equivalent score and 1-16 growth score points/year depending on molecular subtype and domain. Children with a deletion have lower scores at baseline and slower rate of gaining skills while children with UBE3A variant subtype demonstrated higher scores as well as greater rates of skill attainment in all domains. The developmental profiles of UPD and ImpD were similar. En ligne : https://doi.org/10.1007/s10803-020-04861-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=495 [article] Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III [texte imprimé] / Anne WHEELER, Auteur ; Angela GWALTNEY, Auteur ; Sarika U. PETERS, Auteur ; Rene L. BARBIERI-WELGE, Auteur ; Lucia T. HOROWITZ, Auteur ; Lisa M. NOLL, Auteur ; Rachel J. HUNDLEY, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur . - p.720-737. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-2 (February 2023) . - p.720-737 Index. décimale : PER Périodiques Résumé : We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age 12 years of age at about 1-2 months/year based on age equivalent score and 1-16 growth score points/year depending on molecular subtype and domain. Children with a deletion have lower scores at baseline and slower rate of gaining skills while children with UBE3A variant subtype demonstrated higher scores as well as greater rates of skill attainment in all domains. The developmental profiles of UPD and ImpD were similar. En ligne : https://doi.org/10.1007/s10803-020-04861-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=495

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]  inJournal 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 ; LeeAnne 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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240 [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 ; LeeAnne 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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240

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)  

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Parental reports on the prevalence of co-occurring intellectual disability among children with autism spectrum disorders / Robin P. GOIN-KOCHEL in Research in Autism Spectrum Disorders, 2-3 (July / September 2008)  

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Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS) / Melissa RASPA in Journal of Autism and Developmental Disorders, 55-3 (March 2025)  

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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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The MTHFR 677CT polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations / Robin P. GOIN-KOCHEL in Autism Research, 2-2 (April 2009)  

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