Autism spectrum disorder phenotype in children with ambulatory cerebral palsy: A descriptive cross-sectional study / S. SMILE in Research in Autism Spectrum Disorders, 7-2 (February 2013)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 7-2 (February 2013) . - p.391-397 Titre : Autism spectrum disorder phenotype in children with ambulatory cerebral palsy: A descriptive cross-sectional study Type de document : Texte imprimé et/ou numérique Auteurs : S. SMILE, Auteur ; A. DUPUIS, Auteur ; C. MACARTHUR, Auteur ; Wendy ROBERTS, Auteur ; D. FEHLINGS, Auteur Année de publication : 2013 Article en page(s) : p.391-397 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Cerebral palsy  Diagnosis  Co-morbidity Index. décimale : PER Périodiques Résumé : The current study aims to describe the cognitive profile, autism profile, medical and behavioral presentation of children with a dual diagnosis of cerebral palsy (CP) and autism spectrum disorder (ASD). Little is known about the dual presentation of CP and ASD. Timely diagnosis is imperative as early intervention may impact a child's developmental trajectory. The study used a cross-sectional descriptive design. We report data on cognitive profiles, ASD presenting symptoms, the time to definitive diagnosis of ASD, medical and behavioral co-morbidities in children with a dual diagnosis of CP and ASD. Seventy-two percent (72%) of children with CP + ASD had a developmental disability profile. Children were diagnosed with ASD at the median age of 66.5 months (range: 31'210 months). Repetitive behaviors were the most common ASD alerting symptom. Repetitive motor mannerisms were reported in 71% of CP + ASD population. Constipation, asthma and aggression showed highest statistical differences between CP + ASD group and CP only group. Our study has established that cognitive impairment is common amongst children with CP + ASD. ASD is diagnosed later in children with CP + ASD, than reference age of diagnosis in children with ASD. Medical and behavioral co-morbidities are common in children with CP + ASD. Clinicians need to be sensitized to the possibility of multiple diagnoses including ASD in children with cerebral palsy. En ligne : http://dx.doi.org/10.1016/j.rasd.2012.10.008 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=186 [article] Autism spectrum disorder phenotype in children with ambulatory cerebral palsy: A descriptive cross-sectional study [Texte imprimé et/ou numérique] / S. SMILE, Auteur ; A. DUPUIS, Auteur ; C. MACARTHUR, Auteur ; Wendy ROBERTS, Auteur ; D. FEHLINGS, Auteur . - 2013 . - p.391-397. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 7-2 (February 2013) . - p.391-397 Mots-clés : Autism spectrum disorder  Cerebral palsy  Diagnosis  Co-morbidity Index. décimale : PER Périodiques Résumé : The current study aims to describe the cognitive profile, autism profile, medical and behavioral presentation of children with a dual diagnosis of cerebral palsy (CP) and autism spectrum disorder (ASD). Little is known about the dual presentation of CP and ASD. Timely diagnosis is imperative as early intervention may impact a child's developmental trajectory. The study used a cross-sectional descriptive design. We report data on cognitive profiles, ASD presenting symptoms, the time to definitive diagnosis of ASD, medical and behavioral co-morbidities in children with a dual diagnosis of CP and ASD. Seventy-two percent (72%) of children with CP + ASD had a developmental disability profile. Children were diagnosed with ASD at the median age of 66.5 months (range: 31'210 months). Repetitive behaviors were the most common ASD alerting symptom. Repetitive motor mannerisms were reported in 71% of CP + ASD population. Constipation, asthma and aggression showed highest statistical differences between CP + ASD group and CP only group. Our study has established that cognitive impairment is common amongst children with CP + ASD. ASD is diagnosed later in children with CP + ASD, than reference age of diagnosis in children with ASD. Medical and behavioral co-morbidities are common in children with CP + ASD. Clinicians need to be sensitized to the possibility of multiple diagnoses including ASD in children with cerebral palsy. En ligne : http://dx.doi.org/10.1016/j.rasd.2012.10.008 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=186

A pilot dose finding study of pioglitazone in autistic children / L. CAPANO in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 59p. Titre : A pilot dose finding study of pioglitazone in autistic children Type de document : Texte imprimé et/ou numérique Auteurs : L. CAPANO, Auteur ; A. DUPUIS, Auteur ; Jessica BRIAN, Auteur ; D. MANKAD, Auteur ; L. GENORE, Auteur ; R. HASTIE ADAMS, Auteur ; S. SMILE, Auteur ; T. LUI, Auteur ; D. ODROBINA, Auteur ; J. A. FOSTER, Auteur ; Evdokia ANAGNOSTOU, Auteur Article en page(s) : 59p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Clinical trial  Cytokines  Drug therapy  Efficacy  Inflammation  Maximum tolerated dose (MTD)  Physiological effects of drugs  Pioglitazone  Safety profile  Treatment Index. décimale : PER Périodiques Résumé : Background: Pioglitazone is a promising compound for treatment of core autism spectrum disorder (ASD) symptoms as it targets multiple relevant pathways, including immune system alterations. Objective: This pilot study aimed to elucidate the maximum tolerated dose, safety, preliminary evidence of efficacy, and appropriate outcome measures in autistic children ages 5-12 years old. Methods: We conducted a 16-week prospective cohort, single blind, single arm, 2-week placebo run-in, dose-finding study of pioglitazone. Twenty-five participants completed treatment. A modified dose finding method was used to determine safety and dose response among three dose levels: 0.25 mg/kg, 0.5 mg/kg, and 0.75 mg/kg once daily. Results: Maximum tolerated dose: there were no serious adverse events (SAEs) and as such the maximum tolerated dose within the range tested was 0.75 mg/Kg once daily.Safety: overall, pioglitazone was well tolerated. Two participants discontinued intervention due to perceived non-efficacy and one due to the inability to tolerate interim blood work. Three participants experienced mild neutropenia.Early evidence of efficacy: statistically significant improvement was observed in social withdrawal, repetitive behaviors, and externalizing behaviors as measured by the Aberrant Behavior Checklist (ABC), Child Yale-Brown Obsessive Compulsive Scale (CY-BOCS), and Repetitive Behavior Scale-Revised (RBS-R). Forty-six percent of those enrolled were deemed to be global responders. Conclusions and relevance: Pioglitazone is well-tolerated and shows a potential signal in measures of social withdrawal, repetitive, and externalizing behaviors. Randomized controlled trials using the confirmed dose are warranted. Trial registration: ClinicalTrials.gov, NCT01205282. Registration date: September 20, 2010. En ligne : https://dx.doi.org/10.1186/s13229-018-0241-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 [article] A pilot dose finding study of pioglitazone in autistic children [Texte imprimé et/ou numérique] / L. CAPANO, Auteur ; A. DUPUIS, Auteur ; Jessica BRIAN, Auteur ; D. MANKAD, Auteur ; L. GENORE, Auteur ; R. HASTIE ADAMS, Auteur ; S. SMILE, Auteur ; T. LUI, Auteur ; D. ODROBINA, Auteur ; J. A. FOSTER, Auteur ; Evdokia ANAGNOSTOU, Auteur . - 59p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 59p. Mots-clés : Autism spectrum disorder  Clinical trial  Cytokines  Drug therapy  Efficacy  Inflammation  Maximum tolerated dose (MTD)  Physiological effects of drugs  Pioglitazone  Safety profile  Treatment Index. décimale : PER Périodiques Résumé : Background: Pioglitazone is a promising compound for treatment of core autism spectrum disorder (ASD) symptoms as it targets multiple relevant pathways, including immune system alterations. Objective: This pilot study aimed to elucidate the maximum tolerated dose, safety, preliminary evidence of efficacy, and appropriate outcome measures in autistic children ages 5-12 years old. Methods: We conducted a 16-week prospective cohort, single blind, single arm, 2-week placebo run-in, dose-finding study of pioglitazone. Twenty-five participants completed treatment. A modified dose finding method was used to determine safety and dose response among three dose levels: 0.25 mg/kg, 0.5 mg/kg, and 0.75 mg/kg once daily. Results: Maximum tolerated dose: there were no serious adverse events (SAEs) and as such the maximum tolerated dose within the range tested was 0.75 mg/Kg once daily.Safety: overall, pioglitazone was well tolerated. Two participants discontinued intervention due to perceived non-efficacy and one due to the inability to tolerate interim blood work. Three participants experienced mild neutropenia.Early evidence of efficacy: statistically significant improvement was observed in social withdrawal, repetitive behaviors, and externalizing behaviors as measured by the Aberrant Behavior Checklist (ABC), Child Yale-Brown Obsessive Compulsive Scale (CY-BOCS), and Repetitive Behavior Scale-Revised (RBS-R). Forty-six percent of those enrolled were deemed to be global responders. Conclusions and relevance: Pioglitazone is well-tolerated and shows a potential signal in measures of social withdrawal, repetitive, and externalizing behaviors. Randomized controlled trials using the confirmed dose are warranted. Trial registration: ClinicalTrials.gov, NCT01205282. Registration date: September 20, 2010. En ligne : https://dx.doi.org/10.1186/s13229-018-0241-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371

Serotonin system genes and obsessive-compulsive trait dimensions in a population-based, pediatric sample: a genetic association study / V. M. SINOPOLI in Journal of Child Psychology and Psychiatry, 60-12 (December 2019)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 60-12 (December 2019) . - p.1289-1299 Titre : Serotonin system genes and obsessive-compulsive trait dimensions in a population-based, pediatric sample: a genetic association study Type de document : Texte imprimé et/ou numérique Auteurs : V. M. SINOPOLI, Auteur ; L. ERDMAN, Auteur ; C. L. BURTON, Auteur ; L. S. PARK, Auteur ; A. DUPUIS, Auteur ; J. SHAN, Auteur ; T. GOODALE, Auteur ; S. M. SHAHEEN, Auteur ; J. CROSBIE, Auteur ; Russell SCHACHAR, Auteur ; P. D. ARNOLD, Auteur Article en page(s) : p.1289-1299 Langues : Anglais (eng) Mots-clés : 5-httlpr  Htr1b  Htr2a  Obsessive-compulsive disorder  Slc6a4  genetic association  phenotypic heterogeneity  population-based  serotonin genes  serotonin system  symptom dimensions Index. décimale : PER Périodiques Résumé : BACKGROUND: Serotonin system genes are commonly studied in obsessive-compulsive disorder (OCD), but genetic studies to date have produced inconsistent results, possibly because phenotypic heterogeneity has not been adequately accounted for. In this paper, we studied candidate serotonergic genes and homogenous phenotypic subgroups as presented through obsessive-compulsive (OC) trait dimensions in a general population of children and adolescents. We hypothesized that different serotonergic gene variants are associated with different OC trait dimensions and, furthermore, that they vary by sex. METHODS: Obsessive-compulsive trait dimensions (Cleaning/Contamination, Counting/Checking, Symmetry/Ordering, Superstition, Rumination, and Hoarding) were examined in a total of 5,213 pediatric participants in the community using the Toronto Obsessive-Compulsive Scale (TOCS). We genotyped candidate serotonin genes (directly genotyping the 5-HTTLPR polymorphism in SLC6A4 for 2018 individuals and using single nucleotide polymorphism (SNP) array data for genes SLC6A4, HTR2A, and HTR1B for 4711 individuals). We assessed the association between variants across these genes and each of the OC trait dimensions, within males and females separately. We analyzed OC traits as both (a) dichotomized based on a threshold value and (b) quantitative scores. RESULTS: The [LG + S] variant in 5-HTTLPR was significantly associated with hoarding in males (p-value of 0.003 and 0.004 for categorical and continuous analyses, respectively). There were no significant findings for 5-HTTLPR in females. Using SNP array data, there were significant findings for rumination in males for HTR2A SNPs (p-value of 1.04e-6 to 5.20e-6). CONCLUSIONS: This represents the first genetic association study of OC trait dimensions in a community-based pediatric sample. Our strongest results indicate that hoarding and rumination may be distinct in their association with serotonin gene variants and that serotonin gene variation may be specific to sex. Future genetic association studies in OCD should properly account for heterogeneity, using homogenous subgroups stratified by symptom dimension, sex, and age group. En ligne : http://dx.doi.org/10.1111/jcpp.13079 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=412 [article] Serotonin system genes and obsessive-compulsive trait dimensions in a population-based, pediatric sample: a genetic association study [Texte imprimé et/ou numérique] / V. M. SINOPOLI, Auteur ; L. ERDMAN, Auteur ; C. L. BURTON, Auteur ; L. S. PARK, Auteur ; A. DUPUIS, Auteur ; J. SHAN, Auteur ; T. GOODALE, Auteur ; S. M. SHAHEEN, Auteur ; J. CROSBIE, Auteur ; Russell SCHACHAR, Auteur ; P. D. ARNOLD, Auteur . - p.1289-1299. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 60-12 (December 2019) . - p.1289-1299 Mots-clés : 5-httlpr  Htr1b  Htr2a  Obsessive-compulsive disorder  Slc6a4  genetic association  phenotypic heterogeneity  population-based  serotonin genes  serotonin system  symptom dimensions Index. décimale : PER Périodiques Résumé : BACKGROUND: Serotonin system genes are commonly studied in obsessive-compulsive disorder (OCD), but genetic studies to date have produced inconsistent results, possibly because phenotypic heterogeneity has not been adequately accounted for. In this paper, we studied candidate serotonergic genes and homogenous phenotypic subgroups as presented through obsessive-compulsive (OC) trait dimensions in a general population of children and adolescents. We hypothesized that different serotonergic gene variants are associated with different OC trait dimensions and, furthermore, that they vary by sex. METHODS: Obsessive-compulsive trait dimensions (Cleaning/Contamination, Counting/Checking, Symmetry/Ordering, Superstition, Rumination, and Hoarding) were examined in a total of 5,213 pediatric participants in the community using the Toronto Obsessive-Compulsive Scale (TOCS). We genotyped candidate serotonin genes (directly genotyping the 5-HTTLPR polymorphism in SLC6A4 for 2018 individuals and using single nucleotide polymorphism (SNP) array data for genes SLC6A4, HTR2A, and HTR1B for 4711 individuals). We assessed the association between variants across these genes and each of the OC trait dimensions, within males and females separately. We analyzed OC traits as both (a) dichotomized based on a threshold value and (b) quantitative scores. RESULTS: The [LG + S] variant in 5-HTTLPR was significantly associated with hoarding in males (p-value of 0.003 and 0.004 for categorical and continuous analyses, respectively). There were no significant findings for 5-HTTLPR in females. Using SNP array data, there were significant findings for rumination in males for HTR2A SNPs (p-value of 1.04e-6 to 5.20e-6). CONCLUSIONS: This represents the first genetic association study of OC trait dimensions in a community-based pediatric sample. Our strongest results indicate that hoarding and rumination may be distinct in their association with serotonin gene variants and that serotonin gene variation may be specific to sex. Future genetic association studies in OCD should properly account for heterogeneity, using homogenous subgroups stratified by symptom dimension, sex, and age group. En ligne : http://dx.doi.org/10.1111/jcpp.13079 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=412

SWAN scale for ADHD trait-based genetic research: a validity and polygenic risk study / C. L. BURTON in Journal of Child Psychology and Psychiatry, 60-9 (September 2019)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 60-9 (September 2019) . - p.988-997 Titre : SWAN scale for ADHD trait-based genetic research: a validity and polygenic risk study Type de document : Texte imprimé et/ou numérique Auteurs : C. L. BURTON, Auteur ; L. WRIGHT, Auteur ; J. SHAN, Auteur ; B. XIAO, Auteur ; A. DUPUIS, Auteur ; T. GOODALE, Auteur ; S. M. SHAHEEN, Auteur ; E. C. CORFIELD, Auteur ; P. D. ARNOLD, Auteur ; Russell SCHACHAR, Auteur ; J. CROSBIE, Auteur Article en page(s) : p.988-997 Langues : Anglais (eng) Mots-clés : Adhd  Swan  polygenic risk score  psychometric validity  standardized norms Index. décimale : PER Périodiques Résumé : BACKGROUND: Population-based samples with valid, quantitative and genetically informative trait measures of psychopathology could be a powerful complement to case/control genetic designs. We report the convergent and predictive validity of the parent- and self-report versions of the Strengths and Weaknesses of ADHD Symptoms and Normal Behavior Rating Scale (SWAN). We tested if SWAN scores were associated with ADHD diagnosis, ADHD polygenic risk, as well as traits and polygenic risk for disorders that co-occur with ADHD: anxiety and obsessive-compulsive disorder (OCD). METHODS: We collected parent- and self-report SWAN scores in a sample of 15,560 children and adolescents (6-17 years) recruited at a science museum (Spit for Science sample). We established age and sex norms for the SWAN. Sensitivity-specificity analyses determined SWAN cut-points that discriminated those with and without a reported ADHD diagnosis. These cut-points were validated in a clinic sample (266 ADHD cases; 36 controls). Convergent validity was established using the Conners' parent- and self-report scales. Using Spit for Science participants with genome-wide data (n = 5,154), we tested if low, medium and high SWAN scores were associated with polygenic risk for ADHD, OCD and anxiety disorders. RESULTS: Parent- and self-report SWAN scores showed high convergent validity with Conners' scales and distinguished ADHD participants with high sensitivity and specificity in the Spit for Science sample. In a clinic sample, the Spit for Science cut-points discriminated ADHD cases from controls with a sensitivity of 84% and specificity of 92%. High SWAN scores and scores above the Spit for Science cut-points were significantly associated with polygenic risk for ADHD. SWAN scores were not associated with polygenic risk for OCD or anxiety disorders. CONCLUSIONS: Our study supports the validity of the parent- and self-report SWAN scales and their potential in ADHD population-based genetic research. En ligne : http://dx.doi.org/10.1111/jcpp.13032 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405 [article] SWAN scale for ADHD trait-based genetic research: a validity and polygenic risk study [Texte imprimé et/ou numérique] / C. L. BURTON, Auteur ; L. WRIGHT, Auteur ; J. SHAN, Auteur ; B. XIAO, Auteur ; A. DUPUIS, Auteur ; T. GOODALE, Auteur ; S. M. SHAHEEN, Auteur ; E. C. CORFIELD, Auteur ; P. D. ARNOLD, Auteur ; Russell SCHACHAR, Auteur ; J. CROSBIE, Auteur . - p.988-997. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 60-9 (September 2019) . - p.988-997 Mots-clés : Adhd  Swan  polygenic risk score  psychometric validity  standardized norms Index. décimale : PER Périodiques Résumé : BACKGROUND: Population-based samples with valid, quantitative and genetically informative trait measures of psychopathology could be a powerful complement to case/control genetic designs. We report the convergent and predictive validity of the parent- and self-report versions of the Strengths and Weaknesses of ADHD Symptoms and Normal Behavior Rating Scale (SWAN). We tested if SWAN scores were associated with ADHD diagnosis, ADHD polygenic risk, as well as traits and polygenic risk for disorders that co-occur with ADHD: anxiety and obsessive-compulsive disorder (OCD). METHODS: We collected parent- and self-report SWAN scores in a sample of 15,560 children and adolescents (6-17 years) recruited at a science museum (Spit for Science sample). We established age and sex norms for the SWAN. Sensitivity-specificity analyses determined SWAN cut-points that discriminated those with and without a reported ADHD diagnosis. These cut-points were validated in a clinic sample (266 ADHD cases; 36 controls). Convergent validity was established using the Conners' parent- and self-report scales. Using Spit for Science participants with genome-wide data (n = 5,154), we tested if low, medium and high SWAN scores were associated with polygenic risk for ADHD, OCD and anxiety disorders. RESULTS: Parent- and self-report SWAN scores showed high convergent validity with Conners' scales and distinguished ADHD participants with high sensitivity and specificity in the Spit for Science sample. In a clinic sample, the Spit for Science cut-points discriminated ADHD cases from controls with a sensitivity of 84% and specificity of 92%. High SWAN scores and scores above the Spit for Science cut-points were significantly associated with polygenic risk for ADHD. SWAN scores were not associated with polygenic risk for OCD or anxiety disorders. CONCLUSIONS: Our study supports the validity of the parent- and self-report SWAN scales and their potential in ADHD population-based genetic research. En ligne : http://dx.doi.org/10.1111/jcpp.13032 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405

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