Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay / Olivia J. VEATCH in Journal of Autism and Developmental Disorders, 45-1 (January 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-1 (January 2015) . - p.100-110 Titre : Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay Type de document : Texte imprimé et/ou numérique Auteurs : Olivia J. VEATCH, Auteur ; Julie S. PENDERGAST, Auteur ; Melissa J. ALLEN, Auteur ; Roberta M. LEU, Auteur ; Carl Hirschie JOHNSON, Auteur ; Sarah H. ELSEA, Auteur ; Beth A. MALOW, Auteur Article en page(s) : p.100-110 Langues : Anglais (eng) Mots-clés : Comorbidities  Genetic analyses  Phenotyping  Phenotypic subgroups  Biomarkers  Endophenotypes Index. décimale : PER Périodiques Résumé : Sleep disruption is common in individuals with autism spectrum disorder (ASD). Genes whose products regulate endogenous melatonin modify sleep patterns and have been implicated in ASD. Genetic factors likely contribute to comorbid expression of sleep disorders in ASD. We studied a clinically unique ASD subgroup, consisting solely of children with comorbid expression of sleep onset delay. We evaluated variation in two melatonin pathway genes, acetylserotonin O-methyltransferase (ASMT) and cytochrome P450 1A2 (CYP1A2). We observed higher frequencies than currently reported (p < 0.04) for variants evidenced to decrease ASMT expression and related to decreased CYP1A2 enzyme activity (p ? 0.0007). We detected a relationship between genotypes in ASMT and CYP1A2 (r2 = 0.63). Our results indicate that expression of sleep onset delay relates to melatonin pathway genes. En ligne : http://dx.doi.org/10.1007/s10803-014-2197-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258 [article] Genetic Variation in Melatonin Pathway Enzymes in Children with Autism Spectrum Disorder and Comorbid Sleep Onset Delay [Texte imprimé et/ou numérique] / Olivia J. VEATCH, Auteur ; Julie S. PENDERGAST, Auteur ; Melissa J. ALLEN, Auteur ; Roberta M. LEU, Auteur ; Carl Hirschie JOHNSON, Auteur ; Sarah H. ELSEA, Auteur ; Beth A. MALOW, Auteur . - p.100-110. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-1 (January 2015) . - p.100-110 Mots-clés : Comorbidities  Genetic analyses  Phenotyping  Phenotypic subgroups  Biomarkers  Endophenotypes Index. décimale : PER Périodiques Résumé : Sleep disruption is common in individuals with autism spectrum disorder (ASD). Genes whose products regulate endogenous melatonin modify sleep patterns and have been implicated in ASD. Genetic factors likely contribute to comorbid expression of sleep disorders in ASD. We studied a clinically unique ASD subgroup, consisting solely of children with comorbid expression of sleep onset delay. We evaluated variation in two melatonin pathway genes, acetylserotonin O-methyltransferase (ASMT) and cytochrome P450 1A2 (CYP1A2). We observed higher frequencies than currently reported (p < 0.04) for variants evidenced to decrease ASMT expression and related to decreased CYP1A2 enzyme activity (p ? 0.0007). We detected a relationship between genotypes in ASMT and CYP1A2 (r2 = 0.63). Our results indicate that expression of sleep onset delay relates to melatonin pathway genes. En ligne : http://dx.doi.org/10.1007/s10803-014-2197-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258

A practical approach to identifying autistic adults within the electronic health record / Olivia J. VEATCH ; Xinnan NIU ; Kasey A. FITZPATRICK ; Donald HUCKS ; Angie MAXWELL-HORN ; Lea K. DAVIS in Autism Research, 16-1 (January 2023)  

Public ISBD [article]  inAutism Research > 16-1 (January 2023) . - p.52-65 Titre : A practical approach to identifying autistic adults within the electronic health record Type de document : Texte imprimé et/ou numérique Auteurs : Olivia J. VEATCH, Auteur ; Xinnan NIU, Auteur ; Kasey A. FITZPATRICK, Auteur ; Donald HUCKS, Auteur ; Angie MAXWELL-HORN, Auteur ; Lea K. DAVIS, Auteur Article en page(s) : p.52-65 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract The electronic health record (EHR) provides valuable data for understanding physical and mental health conditions in autism. We developed an approach to identify charts of autistic young adults, retrieved from our institution's de-identified EHR database. Clinical notes within two cohorts were identified. Cohort 1 charts had at least one International Classification of Diseases (ICD-CM) autism code. Cohort 2 charts had only autism key terms without ICD-CM codes, and at least four notes per chart. A natural language processing tool parsed medical charts to identify key terms associated with autism diagnoses and mapped them to Unified Medical Language System Concept Unique Identifiers (CUIs). Average scores were calculated for each set of charts based on captured CUIs. Chart review determined whether patients met criteria for autism using a classification rubric. In Cohort 1, of 418 patients, 361 were confirmed to have autism by chart review. Sensitivity was 0.99 and specificity was 0.68 with positive predictive value (PPV) of 0.97. Specificity improved to 0.81 (sensitivity was 0.95; PPV was 0.98) when the number of notes was limited to four or more per chart. In Cohort 2, 48 of 136 patients were confirmed to have autism by chart review. Sensitivity was 0.95, specificity was 0.73, and PPV was 0.70. Our approach, which included using key terms, identified autism charts with high sensitivity, even in the absence of ICD-CM codes. Relying on ICD-CM codes alone may result in inclusion of false positive cases and exclusion of true cases with autism. En ligne : https://doi.org/10.1002/aur.2849 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=492 [article] A practical approach to identifying autistic adults within the electronic health record [Texte imprimé et/ou numérique] / Olivia J. VEATCH, Auteur ; Xinnan NIU, Auteur ; Kasey A. FITZPATRICK, Auteur ; Donald HUCKS, Auteur ; Angie MAXWELL-HORN, Auteur ; Lea K. DAVIS, Auteur . - p.52-65. Langues : Anglais (eng) in Autism Research > 16-1 (January 2023) . - p.52-65 Index. décimale : PER Périodiques Résumé : Abstract The electronic health record (EHR) provides valuable data for understanding physical and mental health conditions in autism. We developed an approach to identify charts of autistic young adults, retrieved from our institution's de-identified EHR database. Clinical notes within two cohorts were identified. Cohort 1 charts had at least one International Classification of Diseases (ICD-CM) autism code. Cohort 2 charts had only autism key terms without ICD-CM codes, and at least four notes per chart. A natural language processing tool parsed medical charts to identify key terms associated with autism diagnoses and mapped them to Unified Medical Language System Concept Unique Identifiers (CUIs). Average scores were calculated for each set of charts based on captured CUIs. Chart review determined whether patients met criteria for autism using a classification rubric. In Cohort 1, of 418 patients, 361 were confirmed to have autism by chart review. Sensitivity was 0.99 and specificity was 0.68 with positive predictive value (PPV) of 0.97. Specificity improved to 0.81 (sensitivity was 0.95; PPV was 0.98) when the number of notes was limited to four or more per chart. In Cohort 2, 48 of 136 patients were confirmed to have autism by chart review. Sensitivity was 0.95, specificity was 0.73, and PPV was 0.70. Our approach, which included using key terms, identified autism charts with high sensitivity, even in the absence of ICD-CM codes. Relying on ICD-CM codes alone may result in inclusion of false positive cases and exclusion of true cases with autism. En ligne : https://doi.org/10.1002/aur.2849 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=492

Shorter sleep duration is associated with social impairment and comorbidities in ASD / Olivia J. VEATCH in Autism Research, 10-7 (July 2017)  

Public ISBD [article]  inAutism Research > 10-7 (July 2017) . - p.1221-1238 Titre : Shorter sleep duration is associated with social impairment and comorbidities in ASD Type de document : Texte imprimé et/ou numérique Auteurs : Olivia J. VEATCH, Auteur ; James S. SUTCLIFFE, Auteur ; Zachary WARREN, Auteur ; Brendan T. KEENAN, Auteur ; Melissa H. POTTER, Auteur ; Beth A. MALOW, Auteur Article en page(s) : p.1221-1238 Langues : Anglais (eng) Mots-clés : comorbid conditions  sleep (disorders)  subtypes (of ASD)  social cognition  neurology Index. décimale : PER Périodiques Résumé : Sleep disturbance, particularly insomnia, is common in children with autism spectrum disorders (ASD). Furthermore, disturbed sleep affects core symptoms and other related comorbidities. Understanding the causes and consequences of sleep disturbances in children with ASD is an important step toward mitigating these symptoms. To better understand the connection between sleep duration and ASD severity, we analyzed ASD-related symptoms using the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), IQ scores, and parent reports of the average amount of time slept per night that were available in the medical histories of 2,714 children with ASD in the Simons Simplex Collection (SSC). The mean (SD) sleep duration was 555 minutes. Sleep duration and severity of core ASD symptoms were negatively correlated, and sleep duration and IQ scores were positively correlated. Regression results indicated that more severe social impairment, primarily a failure to develop peer relationships, is the core symptom most strongly associated with short sleep duration. Furthermore, increased severity for numerous maladaptive behaviors assessed on the Child Behavior Checklist, as well as reports of attention deficit disorder, depressive disorder, and obsessive compulsive disorder were associated with short sleep duration. Severity scores for social/communication impairment and restricted and repetitive behaviors (RRB) were increased, and IQ scores were decreased, for children reported to sleep ?420 minutes per night (lower 5th percentile) compared to children sleeping ?660 minutes (upper 95th percentile). Our results indicate that reduced amounts of sleep are related to more severe symptoms in children with ASD. En ligne : http://dx.doi.org/10.1002/aur.1765 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=309 [article] Shorter sleep duration is associated with social impairment and comorbidities in ASD [Texte imprimé et/ou numérique] / Olivia J. VEATCH, Auteur ; James S. SUTCLIFFE, Auteur ; Zachary WARREN, Auteur ; Brendan T. KEENAN, Auteur ; Melissa H. POTTER, Auteur ; Beth A. MALOW, Auteur . - p.1221-1238. Langues : Anglais (eng) in Autism Research > 10-7 (July 2017) . - p.1221-1238 Mots-clés : comorbid conditions  sleep (disorders)  subtypes (of ASD)  social cognition  neurology Index. décimale : PER Périodiques Résumé : Sleep disturbance, particularly insomnia, is common in children with autism spectrum disorders (ASD). Furthermore, disturbed sleep affects core symptoms and other related comorbidities. Understanding the causes and consequences of sleep disturbances in children with ASD is an important step toward mitigating these symptoms. To better understand the connection between sleep duration and ASD severity, we analyzed ASD-related symptoms using the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), IQ scores, and parent reports of the average amount of time slept per night that were available in the medical histories of 2,714 children with ASD in the Simons Simplex Collection (SSC). The mean (SD) sleep duration was 555 minutes. Sleep duration and severity of core ASD symptoms were negatively correlated, and sleep duration and IQ scores were positively correlated. Regression results indicated that more severe social impairment, primarily a failure to develop peer relationships, is the core symptom most strongly associated with short sleep duration. Furthermore, increased severity for numerous maladaptive behaviors assessed on the Child Behavior Checklist, as well as reports of attention deficit disorder, depressive disorder, and obsessive compulsive disorder were associated with short sleep duration. Severity scores for social/communication impairment and restricted and repetitive behaviors (RRB) were increased, and IQ scores were decreased, for children reported to sleep ?420 minutes per night (lower 5th percentile) compared to children sleeping ?660 minutes (upper 95th percentile). Our results indicate that reduced amounts of sleep are related to more severe symptoms in children with ASD. En ligne : http://dx.doi.org/10.1002/aur.1765 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=309

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