Emergency department visits by children with and without autism spectrum disorder: An initial comparison evaluating multiple outcome measures at one urban children's hospital / Laura CASEY in Research in Autism Spectrum Disorders, 9 (January 2015)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 9 (January 2015) . - p.144-150 Titre : Emergency department visits by children with and without autism spectrum disorder: An initial comparison evaluating multiple outcome measures at one urban children's hospital Type de document : texte imprimé Auteurs : Laura CASEY, Auteur ; Robert L. WILLIAMSON, Auteur ; Sarah MILLER, Auteur ; J. Brian SMITH, Auteur ; Kimberly N. FRAME, Auteur ; Elisabeth C. LANGFORD, Auteur ; J. Brittain COLEMAN, Auteur ; Barry GILMORE, Auteur ; Kathryn A. MCVICAR, Auteur Année de publication : 2015 Article en page(s) : p.144-150 Langues : Anglais (eng) Mots-clés : Emergency department  Standard of care  Autism spectrum disorder  Comparative analysis Index. décimale : PER Périodiques Résumé : Abstract Hospitals everywhere, especially children's hospitals, attempt to give exceptional care to all of their patients regardless of race, religion, socio-economic class, or intellectual ability. We evaluated data collected in the emergency department of a children's hospital, comparing duration of visit in minutes, chief complaint upon arrival to the emergency department, mode of arrival to the emergency department, method of obtaining patient history, demographic information, medications prescribed, medical testing, laboratory testing, diagnosis at discharge, billing code(s) used by the hospital per visit, and the type of insurance billed for services for patients with and without autism spectrum disorder. Results showed no differences were found between the presenting complaint provided by the caretaker upon entering the emergency department and the medical diagnosis for which the patient was actually treated within the emergency department. The tests also showed that there was a significant association between the categories of presenting complaints and whether or not the patient had autism spectrum disorder. The arrival mode to the emergency department was not significantly different between those with and without autism spectrum disorder. There was no significant difference existing between the two groups regarding cost of medical services provided and no significant difference existed between the two groups for the number of laboratory tests, medical tests, or total tests conducted, as well as no significant difference was found between the two groups was found in the length of hospital stay. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.10.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=243 [article] Emergency department visits by children with and without autism spectrum disorder: An initial comparison evaluating multiple outcome measures at one urban children's hospital [texte imprimé] / Laura CASEY, Auteur ; Robert L. WILLIAMSON, Auteur ; Sarah MILLER, Auteur ; J. Brian SMITH, Auteur ; Kimberly N. FRAME, Auteur ; Elisabeth C. LANGFORD, Auteur ; J. Brittain COLEMAN, Auteur ; Barry GILMORE, Auteur ; Kathryn A. MCVICAR, Auteur . - 2015 . - p.144-150. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 9 (January 2015) . - p.144-150 Mots-clés : Emergency department  Standard of care  Autism spectrum disorder  Comparative analysis Index. décimale : PER Périodiques Résumé : Abstract Hospitals everywhere, especially children's hospitals, attempt to give exceptional care to all of their patients regardless of race, religion, socio-economic class, or intellectual ability. We evaluated data collected in the emergency department of a children's hospital, comparing duration of visit in minutes, chief complaint upon arrival to the emergency department, mode of arrival to the emergency department, method of obtaining patient history, demographic information, medications prescribed, medical testing, laboratory testing, diagnosis at discharge, billing code(s) used by the hospital per visit, and the type of insurance billed for services for patients with and without autism spectrum disorder. Results showed no differences were found between the presenting complaint provided by the caretaker upon entering the emergency department and the medical diagnosis for which the patient was actually treated within the emergency department. The tests also showed that there was a significant association between the categories of presenting complaints and whether or not the patient had autism spectrum disorder. The arrival mode to the emergency department was not significantly different between those with and without autism spectrum disorder. There was no significant difference existing between the two groups regarding cost of medical services provided and no significant difference existed between the two groups for the number of laboratory tests, medical tests, or total tests conducted, as well as no significant difference was found between the two groups was found in the length of hospital stay. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.10.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=243

The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature / Nora URRACA in Autism Research, 6-4 (August 2013)  

Public ISBD [article]  inAutism Research > 6-4 (August 2013) . - p.268-279 Titre : The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature Type de document : texte imprimé Auteurs : Nora URRACA, Auteur ; Julie CLEARY, Auteur ; Victoria BREWER, Auteur ; Eniko K. PIVNICK, Auteur ; Kathryn A. MCVICAR, Auteur ; Ronald L. THIBERT, Auteur ; N. Carolyn SCHANEN, Auteur ; Carmen ESMER, Auteur ; Dustin LAMPORT, Auteur ; Lawrence T. REITER, Auteur Article en page(s) : p.268-279 Langues : Anglais (eng) Mots-clés : autism  15q duplication  imprinting  copy number variation  UBE3A Index. décimale : PER Périodiques Résumé : Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum. En ligne : http://dx.doi.org/10.1002/aur.1284 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=212 [article] The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature [texte imprimé] / Nora URRACA, Auteur ; Julie CLEARY, Auteur ; Victoria BREWER, Auteur ; Eniko K. PIVNICK, Auteur ; Kathryn A. MCVICAR, Auteur ; Ronald L. THIBERT, Auteur ; N. Carolyn SCHANEN, Auteur ; Carmen ESMER, Auteur ; Dustin LAMPORT, Auteur ; Lawrence T. REITER, Auteur . - p.268-279. Langues : Anglais (eng) in Autism Research > 6-4 (August 2013) . - p.268-279 Mots-clés : autism  15q duplication  imprinting  copy number variation  UBE3A Index. décimale : PER Périodiques Résumé : Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum. En ligne : http://dx.doi.org/10.1002/aur.1284 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=212

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