Brief Report: Symptom Onset Patterns and Functional Outcomes in Young Children with Autism Spectrum Disorders / Stacy SHUMWAY in Journal of Autism and Developmental Disorders, 41-12 (December 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-12 (December 2011) . - p.1727-1732 Titre : Brief Report: Symptom Onset Patterns and Functional Outcomes in Young Children with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Stacy SHUMWAY, Auteur ; Audrey THURM, Auteur ; Susan E. SWEDO, Auteur ; Lesley DEPREY, Auteur ; Lou BARNETT, Auteur ; David G. AMARAL, Auteur ; Sally J ROGERS, Auteur ; Sally OZONOFF, Auteur Année de publication : 2011 Article en page(s) : p.1727-1732 Langues : Anglais (eng) Mots-clés : Autism  Regression  Onset  Symptom  Outcomes Index. décimale : PER Périodiques Résumé : This study examined the relationship between onset status and current functioning using a recently proposed onset classification system in 272 young children with autism spectrum disorder (ASD). Participants were classified into one of the following groups, based on parent report using the Autism Diagnostic Interview—Revised: Early Onset (symptoms by 12 months, no loss), Delay + Regression (symptoms by 12 months plus loss), Plateau (no early symptoms or loss), and Regression (no early symptoms, followed by loss). Findings indicate that current functioning does not differ according to onset pattern, calling into question the use of onset categorizations for prognostic purposes in children with ASD. En ligne : http://dx.doi.org/10.1007/s10803-011-1203-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=148 [article] Brief Report: Symptom Onset Patterns and Functional Outcomes in Young Children with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Stacy SHUMWAY, Auteur ; Audrey THURM, Auteur ; Susan E. SWEDO, Auteur ; Lesley DEPREY, Auteur ; Lou BARNETT, Auteur ; David G. AMARAL, Auteur ; Sally J ROGERS, Auteur ; Sally OZONOFF, Auteur . - 2011 . - p.1727-1732. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-12 (December 2011) . - p.1727-1732 Mots-clés : Autism  Regression  Onset  Symptom  Outcomes Index. décimale : PER Périodiques Résumé : This study examined the relationship between onset status and current functioning using a recently proposed onset classification system in 272 young children with autism spectrum disorder (ASD). Participants were classified into one of the following groups, based on parent report using the Autism Diagnostic Interview—Revised: Early Onset (symptoms by 12 months, no loss), Delay + Regression (symptoms by 12 months plus loss), Plateau (no early symptoms or loss), and Regression (no early symptoms, followed by loss). Findings indicate that current functioning does not differ according to onset pattern, calling into question the use of onset categorizations for prognostic purposes in children with ASD. En ligne : http://dx.doi.org/10.1007/s10803-011-1203-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=148

Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism / C. FARMER in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.1 Titre : Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism Type de document : Texte imprimé et/ou numérique Auteurs : C. FARMER, Auteur ; L. SWINEFORD, Auteur ; Susan E. SWEDO, Auteur ; A. THURM, Auteur Article en page(s) : p.1 Langues : Anglais (eng) Mots-clés : Adaptive behavior  Autism spectrum disorders  Longitudinal studies Index. décimale : PER Périodiques Résumé : BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories. METHODS: Data from an accelerated longitudinal natural history study (n = 105 children with ASD) were subjected to growth mixture model analysis. Children were assessed up to four times between the ages of 3 to 7.99 years. RESULTS: The best fitting model comprised two classes of trajectory on the Adaptive Behavior Composite score of the Vineland Adaptive Behavior Scale, Second Edition-a low and decreasing trajectory (73% of the sample) and a moderate and stable class (27%). CONCLUSIONS: These results partially replicate the classes observed in a previous study of a similarly characterized sample, suggesting that developmental trajectory may indeed serve as a phenotype. Further, the ability to predict which trajectory a child is likely to follow will be useful in planning for clinical trials. En ligne : http://dx.doi.org/10.1186/s11689-017-9222-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism [Texte imprimé et/ou numérique] / C. FARMER, Auteur ; L. SWINEFORD, Auteur ; Susan E. SWEDO, Auteur ; A. THURM, Auteur . - p.1. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.1 Mots-clés : Adaptive behavior  Autism spectrum disorders  Longitudinal studies Index. décimale : PER Périodiques Résumé : BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories. METHODS: Data from an accelerated longitudinal natural history study (n = 105 children with ASD) were subjected to growth mixture model analysis. Children were assessed up to four times between the ages of 3 to 7.99 years. RESULTS: The best fitting model comprised two classes of trajectory on the Adaptive Behavior Composite score of the Vineland Adaptive Behavior Scale, Second Edition-a low and decreasing trajectory (73% of the sample) and a moderate and stable class (27%). CONCLUSIONS: These results partially replicate the classes observed in a previous study of a similarly characterized sample, suggesting that developmental trajectory may indeed serve as a phenotype. Further, the ability to predict which trajectory a child is likely to follow will be useful in planning for clinical trials. En ligne : http://dx.doi.org/10.1186/s11689-017-9222-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update / A. THURM in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.12 Titre : Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update Type de document : Texte imprimé et/ou numérique Auteurs : A. THURM, Auteur ; E. TIERNEY, Auteur ; C. FARMER, Auteur ; P. ALBERT, Auteur ; L. JOSEPH, Auteur ; Susan E. SWEDO, Auteur ; S. BIANCONI, Auteur ; I. BUKELIS, Auteur ; C. WHEELER, Auteur ; G. SARPHARE, Auteur ; D. LANHAM, Auteur ; C. A. WASSIF, Auteur ; F. D. PORTER, Auteur Article en page(s) : p.12 Langues : Anglais (eng) Mots-clés : Autism  Developmental delay  Smith-Lemli-Opitz  Sterols Index. décimale : PER Périodiques Résumé : BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior. METHODS: This was an observational case series, wherein participants with SLOS underwent extensive behavioral evaluation of cognitive function, adaptive function, autism symptoms, and problem behaviors, in addition to parent report of developmental milestones. Serum and CSF were contemporaneously obtained from the majority of participants. RESULTS: Developmental milestones such as walking, talking, and toileting were uniformly delayed. Overall levels of cognitive and adaptive functioning were low; no participant received adaptive behavior scores in the average range, and the mean level of cognitive functioning in the full sample was in the moderate range of impairment. Aggressive behavior was present in nearly half of participants. Although the majority of participants had elevated scores on the gold standard autism diagnostic instruments, only about half of participants received a clinical diagnosis of autism spectrum disorder. Finally, while CSF cholesterol was not found to correlate with cognitive or adaptive functioning, both serum and CSF 7-DHC and 8-DHC (and their ratios with cholesterol) were moderately and negatively correlated with functioning in this group. CONCLUSIONS: A history of developmental delay, followed by intellectual disability, is common in individuals with SLOS. Although autism spectrum disorder appears to be a frequent diagnosis in this population, it is apparent that the low level of functioning observed in SLOS may artificially inflate scores on standard autism assessments. Our findings further support that cholesterol precursors 7-DHC and 8-DHC are important biomarkers of the level of functioning in SLOS, especially regarding cognitive abilities, and thus may be to explore as mediators within the context of treatment trials. TRIAL REGISTRATION: ClinicalTrials.gov, NCT00001721, NCT00064792. En ligne : http://dx.doi.org/10.1186/s11689-016-9145-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update [Texte imprimé et/ou numérique] / A. THURM, Auteur ; E. TIERNEY, Auteur ; C. FARMER, Auteur ; P. ALBERT, Auteur ; L. JOSEPH, Auteur ; Susan E. SWEDO, Auteur ; S. BIANCONI, Auteur ; I. BUKELIS, Auteur ; C. WHEELER, Auteur ; G. SARPHARE, Auteur ; D. LANHAM, Auteur ; C. A. WASSIF, Auteur ; F. D. PORTER, Auteur . - p.12. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.12 Mots-clés : Autism  Developmental delay  Smith-Lemli-Opitz  Sterols Index. décimale : PER Périodiques Résumé : BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior. METHODS: This was an observational case series, wherein participants with SLOS underwent extensive behavioral evaluation of cognitive function, adaptive function, autism symptoms, and problem behaviors, in addition to parent report of developmental milestones. Serum and CSF were contemporaneously obtained from the majority of participants. RESULTS: Developmental milestones such as walking, talking, and toileting were uniformly delayed. Overall levels of cognitive and adaptive functioning were low; no participant received adaptive behavior scores in the average range, and the mean level of cognitive functioning in the full sample was in the moderate range of impairment. Aggressive behavior was present in nearly half of participants. Although the majority of participants had elevated scores on the gold standard autism diagnostic instruments, only about half of participants received a clinical diagnosis of autism spectrum disorder. Finally, while CSF cholesterol was not found to correlate with cognitive or adaptive functioning, both serum and CSF 7-DHC and 8-DHC (and their ratios with cholesterol) were moderately and negatively correlated with functioning in this group. CONCLUSIONS: A history of developmental delay, followed by intellectual disability, is common in individuals with SLOS. Although autism spectrum disorder appears to be a frequent diagnosis in this population, it is apparent that the low level of functioning observed in SLOS may artificially inflate scores on standard autism assessments. Our findings further support that cholesterol precursors 7-DHC and 8-DHC are important biomarkers of the level of functioning in SLOS, especially regarding cognitive abilities, and thus may be to explore as mediators within the context of treatment trials. TRIAL REGISTRATION: ClinicalTrials.gov, NCT00001721, NCT00064792. En ligne : http://dx.doi.org/10.1186/s11689-016-9145-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Nature and Treatment of Obsessive-Compulsive Disorder / Lisa A. SNIDER

Public ISBD in Textbook of Biological Psychiatry / Jaak PANKSEPP Titre : Nature and Treatment of Obsessive-Compulsive Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Lisa A. SNIDER, Auteur ; Susan E. SWEDO, Auteur Année de publication : 2004 Importance : p.367–392 Langues : Anglais (eng) Index. décimale : SCI-E SCI-E - Psychiatrie Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=177 in Textbook of Biological Psychiatry / Jaak PANKSEPP Nature and Treatment of Obsessive-Compulsive Disorder [Texte imprimé et/ou numérique] / Lisa A. SNIDER, Auteur ; Susan E. SWEDO, Auteur . - 2004 . - p.367–392. Langues : Anglais (eng) Index. décimale : SCI-E SCI-E - Psychiatrie Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=177

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Patterns of skill attainment and loss in young children with autism / Audrey THURM in Development and Psychopathology, 26-1 (February 2014)  

Public ISBD [article]  inDevelopment and Psychopathology > 26-1 (February 2014) . - p.203-214 Titre : Patterns of skill attainment and loss in young children with autism Type de document : Texte imprimé et/ou numérique Auteurs : Audrey THURM, Auteur ; Stacy S. MANWARING, Auteur ; David A. LUCKENBAUGH, Auteur ; Catherine LORD, Auteur ; Susan E. SWEDO, Auteur Article en page(s) : p.203-214 Langues : Français (fre) Index. décimale : PER Périodiques Résumé : The purpose of this study was to extend the literature on the ontogeny of autism spectrum disorder (ASD) by examining early attainment and loss of specific sociocommunicative skills in children with autism (AUT; n = 125), pervasive developmental disorder not otherwise specified (PDD-NOS; n = 42), nonspectrum developmental delays (n = 46), and typical development (n = 31). The ages of skill attainment and loss were obtained from a caregiver interview. The findings indicated that children with AUT, PDD-NOS, and developmental delays diverged from typically developing children in attainment of sociocommunicative skills early in the first year of life. Loss of at least one skill was reported in a majority of children with AUT and PDD-NOS. Significant delays in attainment of skills were also reported in children who lost skills. The wide variation in skill attainment and loss reported across children indicates that symptom onset and regression may be best represented continuously, with at least some early delay and loss present for a great majority of children with ASD. En ligne : http://dx.doi.org/10.1017/S0954579413000874 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=224 [article] Patterns of skill attainment and loss in young children with autism [Texte imprimé et/ou numérique] / Audrey THURM, Auteur ; Stacy S. MANWARING, Auteur ; David A. LUCKENBAUGH, Auteur ; Catherine LORD, Auteur ; Susan E. SWEDO, Auteur . - p.203-214. Langues : Français (fre) in Development and Psychopathology > 26-1 (February 2014) . - p.203-214 Index. décimale : PER Périodiques Résumé : The purpose of this study was to extend the literature on the ontogeny of autism spectrum disorder (ASD) by examining early attainment and loss of specific sociocommunicative skills in children with autism (AUT; n = 125), pervasive developmental disorder not otherwise specified (PDD-NOS; n = 42), nonspectrum developmental delays (n = 46), and typical development (n = 31). The ages of skill attainment and loss were obtained from a caregiver interview. The findings indicated that children with AUT, PDD-NOS, and developmental delays diverged from typically developing children in attainment of sociocommunicative skills early in the first year of life. Loss of at least one skill was reported in a majority of children with AUT and PDD-NOS. Significant delays in attainment of skills were also reported in children who lost skills. The wide variation in skill attainment and loss reported across children indicates that symptom onset and regression may be best represented continuously, with at least some early delay and loss present for a great majority of children with ASD. En ligne : http://dx.doi.org/10.1017/S0954579413000874 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=224

A pilot open-label trial of minocycline in patients with autism and regressive features / Carlos A. PARDO in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

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Serum and cerebrospinal fluid immune mediators in children with autistic disorder: a longitudinal study / Carlos A. PARDO in Molecular Autism, 8 (2017)  

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Social (pragmatic) communication disorder: a research review of this new DSM-5 diagnostic category / L. B. SWINEFORD in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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The Gestalt of functioning in autism spectrum disorder: Results of the international conference to develop final consensus International Classification of Functioning, Disability and Health core sets / Sven BÖLTE in Autism, 23-2 (February 2019)  

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