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Détail de l'auteur
Auteur Sarika U. PETERS |
Documents disponibles écrits par cet auteur (7)
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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)
[article]
Titre : Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency Type de document : Texte imprimé et/ou numérique 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
in Journal of Autism and Developmental Disorders > 38-6 (July 2008) . - p.1170-1177[article] Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency [Texte imprimé et/ou numérique] / 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 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)
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Titre : Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III Type de document : Texte imprimé et/ou numérique 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 12Â years of age at about 1-2Â 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
in Journal of Autism and Developmental Disorders > 53-2 (February 2023) . - p.720-737[article] Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III [Texte imprimé et/ou numérique] / 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 12Â years of age at about 1-2Â 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)
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Titre : Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection Type de document : Texte imprimé et/ou numérique 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
in Journal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2392-2399[article] Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection [Texte imprimé et/ou numérique] / 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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Titre : Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class Type de document : Texte imprimé et/ou numérique 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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=150
in Journal of Child Psychology and Psychiatry > 53-2 (February 2012) . - p.152-159[article] Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class [Texte imprimé et/ou numérique] / 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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=150 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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Titre : Parental reports on the prevalence of co-occurring intellectual disability among children with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Robin P. GOIN-KOCHEL, Auteur ; Sarika U. PETERS, Auteur ; Diane TREADWELL-DEERING, Auteur Année de publication : 2008 Article en page(s) : p.546-556 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Limited evidence suggests that the prevalence of mental retardation (MR) – now called “intellectual disability” (ID) – in ASD ranges between 25.8% and 58.5%, with co-occurrence in 66–70% of children who meet strict criteria for autism. However, parents and professionals differ significantly in their understanding of or opinions about intellectual functioning among children with ASD. The current study analyzed archival data to calculate the prevalence of parent-reported MR among children with ASD (N = 498). Collectively, 9.2% of families affirmed MR; when analyzed by type of ASD, the rates for those with autism and PDD-NOS were 12.6% and 7.3%, respectively. A variety of explanations for these low rates are posited alongside implications for clinical practice and families’ receipt of services. En ligne : http://dx.doi.org/10.1016/j.rasd.2007.11.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=547
in Research in Autism Spectrum Disorders > 2-3 (July / September 2008) . - p.546-556[article] Parental reports on the prevalence of co-occurring intellectual disability among children with autism spectrum disorders [Texte imprimé et/ou numérique] / Robin P. GOIN-KOCHEL, Auteur ; Sarika U. PETERS, Auteur ; Diane TREADWELL-DEERING, Auteur . - 2008 . - p.546-556.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 2-3 (July / September 2008) . - p.546-556
Index. décimale : PER Périodiques Résumé : Limited evidence suggests that the prevalence of mental retardation (MR) – now called “intellectual disability” (ID) – in ASD ranges between 25.8% and 58.5%, with co-occurrence in 66–70% of children who meet strict criteria for autism. However, parents and professionals differ significantly in their understanding of or opinions about intellectual functioning among children with ASD. The current study analyzed archival data to calculate the prevalence of parent-reported MR among children with ASD (N = 498). Collectively, 9.2% of families affirmed MR; when analyzed by type of ASD, the rates for those with autism and PDD-NOS were 12.6% and 7.3%, respectively. A variety of explanations for these low rates are posited alongside implications for clinical practice and families’ receipt of services. En ligne : http://dx.doi.org/10.1016/j.rasd.2007.11.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=547 The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism / Sarika U. PETERS in Autism Research, 6-1 (February 2013)
PermalinkThe 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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