A Comparison of Intranasal Dexmedetomidine and Dexmedetomidine Plus Buccal Midazolam for Non-painful Procedural Sedation in Children with Autism / B. L. LI in Journal of Autism and Developmental Disorders, 49-9 (September 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3798-3806 Titre : A Comparison of Intranasal Dexmedetomidine and Dexmedetomidine Plus Buccal Midazolam for Non-painful Procedural Sedation in Children with Autism Type de document : Texte imprimé et/ou numérique Auteurs : B. L. LI, Auteur ; V. M. YUEN, Auteur ; N. ZHANG, Auteur ; H. H. ZHANG, Auteur ; J. X. HUANG, Auteur ; S. Y. YANG, Auteur ; J. W. MILLER, Auteur ; X. R. SONG, Auteur Article en page(s) : p.3798-3806 Langues : Anglais (eng) Mots-clés : Autism  Dexmedetomidine  Midazolam  Pediatric sedation Index. décimale : PER Périodiques Résumé : Children with autism often need sedation for diagnostic procedures and they are often difficult to sedate. This prospective randomized double-blind control trial evaluates the efficacy and safety using intranasal dexmedetomidine with and without buccal midazolam for sedation in children with autism undergoing computerized tomography and/or auditory brainstem response test. The primary outcome is the proportion of children attaining satisfactory sedation. One hundred and thirty-six children received intranasal dexmedetomidine and 139 received intranasal dexmedetomidine with buccal midazolam for sedation. Combination of intranasal dexmedetomidine and buccal midazolam was associated with higher sedation success when compared to intranasal dexmedetomidine. Since intranasal and buccal sedatives required little cooperation this could be especially useful technique for children with autism or other behavioral conditions. En ligne : http://dx.doi.org/10.1007/s10803-019-04095-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405 [article] A Comparison of Intranasal Dexmedetomidine and Dexmedetomidine Plus Buccal Midazolam for Non-painful Procedural Sedation in Children with Autism [Texte imprimé et/ou numérique] / B. L. LI, Auteur ; V. M. YUEN, Auteur ; N. ZHANG, Auteur ; H. H. ZHANG, Auteur ; J. X. HUANG, Auteur ; S. Y. YANG, Auteur ; J. W. MILLER, Auteur ; X. R. SONG, Auteur . - p.3798-3806. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3798-3806 Mots-clés : Autism  Dexmedetomidine  Midazolam  Pediatric sedation Index. décimale : PER Périodiques Résumé : Children with autism often need sedation for diagnostic procedures and they are often difficult to sedate. This prospective randomized double-blind control trial evaluates the efficacy and safety using intranasal dexmedetomidine with and without buccal midazolam for sedation in children with autism undergoing computerized tomography and/or auditory brainstem response test. The primary outcome is the proportion of children attaining satisfactory sedation. One hundred and thirty-six children received intranasal dexmedetomidine and 139 received intranasal dexmedetomidine with buccal midazolam for sedation. Combination of intranasal dexmedetomidine and buccal midazolam was associated with higher sedation success when compared to intranasal dexmedetomidine. Since intranasal and buccal sedatives required little cooperation this could be especially useful technique for children with autism or other behavioral conditions. En ligne : http://dx.doi.org/10.1007/s10803-019-04095-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405

Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population / S. Y. YANG in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 44p. Titre : Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population Type de document : Texte imprimé et/ou numérique Auteurs : S. Y. YANG, Auteur ; S. A. KIM, Auteur ; G. M. HUR, Auteur ; M. PARK, Auteur ; J. E. PARK, Auteur ; H. J. YOO, Auteur Article en page(s) : 44p. Langues : Anglais (eng) Mots-clés : Arginine vasopressin receptor 1A (AVPR1A)  Association  Autism spectrum disorder  Microsatellite  Promoter  Single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : BACKGROUND: Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identified to be associated with susceptibility to social deficits in autism spectrum disorder (ASD). We hypothesize that alleles of polymorphisms in the promoter region of AVPR1A may differentially interact with certain transcriptional factors, which in turn affect quantitative traits, such as sociality, in children with autism. METHODS: We performed an association study between ASD and polymorphisms in the AVPR1A promoter region in the Korean population using a family-based association test (FBAT). We evaluated the correlation between genotypes and the quantitative traits that are related to sociality in children with autism. We also performed a promoter assay in T98G cells and evaluated the binding affinities of transcription factors to alleles of rs7294536. RESULTS: The polymorphisms-RS1, RS3, rs7294536, and rs10877969-were analyzed. Under the dominant model, RS1-310, the shorter allele, was preferentially transmitted. The FBAT showed that the rs7294536 A allele was also preferentially transmitted in an additive and dominant model under the bi-allelic mode. When quantitative traits were used in the FBAT, rs7294536 and rs10877969 were statistically significant in all genotype models and modes. Luciferase and electrophoretic mobility-shift assays suggest that the rs7294536 A/G allele results in a Nf-kappaB binding site that exhibits differential binding affinities depending on the allele. CONCLUSION: These results demonstrate that polymorphisms in the AVPR1A promoter region might be involved in pathophysiology of ASD and in functional regulation of the expression of AVPR1A. En ligne : http://dx.doi.org/10.1186/s13229-017-0161-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331 [article] Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population [Texte imprimé et/ou numérique] / S. Y. YANG, Auteur ; S. A. KIM, Auteur ; G. M. HUR, Auteur ; M. PARK, Auteur ; J. E. PARK, Auteur ; H. J. YOO, Auteur . - 44p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 44p. Mots-clés : Arginine vasopressin receptor 1A (AVPR1A)  Association  Autism spectrum disorder  Microsatellite  Promoter  Single nucleotide polymorphism Index. décimale : PER Périodiques Résumé : BACKGROUND: Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identified to be associated with susceptibility to social deficits in autism spectrum disorder (ASD). We hypothesize that alleles of polymorphisms in the promoter region of AVPR1A may differentially interact with certain transcriptional factors, which in turn affect quantitative traits, such as sociality, in children with autism. METHODS: We performed an association study between ASD and polymorphisms in the AVPR1A promoter region in the Korean population using a family-based association test (FBAT). We evaluated the correlation between genotypes and the quantitative traits that are related to sociality in children with autism. We also performed a promoter assay in T98G cells and evaluated the binding affinities of transcription factors to alleles of rs7294536. RESULTS: The polymorphisms-RS1, RS3, rs7294536, and rs10877969-were analyzed. Under the dominant model, RS1-310, the shorter allele, was preferentially transmitted. The FBAT showed that the rs7294536 A allele was also preferentially transmitted in an additive and dominant model under the bi-allelic mode. When quantitative traits were used in the FBAT, rs7294536 and rs10877969 were statistically significant in all genotype models and modes. Luciferase and electrophoretic mobility-shift assays suggest that the rs7294536 A/G allele results in a Nf-kappaB binding site that exhibits differential binding affinities depending on the allele. CONCLUSION: These results demonstrate that polymorphisms in the AVPR1A promoter region might be involved in pathophysiology of ASD and in functional regulation of the expression of AVPR1A. En ligne : http://dx.doi.org/10.1186/s13229-017-0161-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331

Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism / O. H. KIM in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 50p. Titre : Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism Type de document : Texte imprimé et/ou numérique Auteurs : O. H. KIM, Auteur ; H. J. CHO, Auteur ; E. HAN, Auteur ; T. I. HONG, Auteur ; K. ARIYASIRI, Auteur ; J. H. CHOI, Auteur ; K. S. HWANG, Auteur ; Y. M. JEONG, Auteur ; S. Y. YANG, Auteur ; K. YU, Auteur ; D. S. PARK, Auteur ; H. W. OH, Auteur ; E. E. DAVIS, Auteur ; C. E. SCHWARTZ, Auteur ; J. S. LEE, Auteur ; H. G. KIM, Auteur ; C. H. KIM, Auteur Article en page(s) : 50p. Langues : Anglais (eng) Mots-clés : Autism  Dyrk1a  Down syndrome  Group behavior  Knockout  Shoaling  Social interaction  Zebrafish Index. décimale : PER Périodiques Résumé : BACKGROUND: DYRK1A maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either intellectual disability or autism in humans. Intellectual disability accompanied by microcephaly was recapitulated in a murine model by overexpressing Dyrk1a which mimicked Down syndrome phenotypes. However, given embryonic lethality in homozygous knockout (KO) mice, no murine model studies could present sufficient evidence to link Dyrk1a dysfunction with autism. To understand the molecular mechanisms underlying microcephaly and autism spectrum disorders (ASD), we established an in vivo dyrk1aa KO model using zebrafish. METHODS: We identified a patient with a mutation in the DYRK1A gene using microarray analysis. Circumventing the barrier of murine model studies, we generated a dyrk1aa KO zebrafish using transcription activator-like effector nuclease (TALEN)-mediated genome editing. For social behavioral tests, we have established a social interaction test, shoaling assay, and group behavior assay. For molecular analysis, we examined the neuronal activity in specific brain regions of dyrk1aa KO zebrafish through in situ hybridization with various probes including c-fos and crh which are the molecular markers for stress response. RESULTS: Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism. From behavioral tests of social interaction and group behavior, dyrk1aa KO zebrafish exhibited social impairments that reproduce human phenotypes of autism in a vertebrate animal model. Social impairment in dyrk1aa KO zebrafish was further confirmed by molecular analysis of c-fos and crh expression. Transcriptional expression of c-fos and crh was lower than that of wild type fish in specific hypothalamic regions, suggesting that KO fish brains are less activated by social context. CONCLUSIONS: In this study, we established a zebrafish model to validate a candidate gene for autism in a vertebrate animal. These results illustrate the functional deficiency of DYRK1A as an underlying disease mechanism for autism. We also propose simple social behavioral assays as a tool for the broader study of autism candidate genes. En ligne : http://dx.doi.org/10.1186/s13229-017-0168-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 [article] Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism [Texte imprimé et/ou numérique] / O. H. KIM, Auteur ; H. J. CHO, Auteur ; E. HAN, Auteur ; T. I. HONG, Auteur ; K. ARIYASIRI, Auteur ; J. H. CHOI, Auteur ; K. S. HWANG, Auteur ; Y. M. JEONG, Auteur ; S. Y. YANG, Auteur ; K. YU, Auteur ; D. S. PARK, Auteur ; H. W. OH, Auteur ; E. E. DAVIS, Auteur ; C. E. SCHWARTZ, Auteur ; J. S. LEE, Auteur ; H. G. KIM, Auteur ; C. H. KIM, Auteur . - 50p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 50p. Mots-clés : Autism  Dyrk1a  Down syndrome  Group behavior  Knockout  Shoaling  Social interaction  Zebrafish Index. décimale : PER Périodiques Résumé : BACKGROUND: DYRK1A maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either intellectual disability or autism in humans. Intellectual disability accompanied by microcephaly was recapitulated in a murine model by overexpressing Dyrk1a which mimicked Down syndrome phenotypes. However, given embryonic lethality in homozygous knockout (KO) mice, no murine model studies could present sufficient evidence to link Dyrk1a dysfunction with autism. To understand the molecular mechanisms underlying microcephaly and autism spectrum disorders (ASD), we established an in vivo dyrk1aa KO model using zebrafish. METHODS: We identified a patient with a mutation in the DYRK1A gene using microarray analysis. Circumventing the barrier of murine model studies, we generated a dyrk1aa KO zebrafish using transcription activator-like effector nuclease (TALEN)-mediated genome editing. For social behavioral tests, we have established a social interaction test, shoaling assay, and group behavior assay. For molecular analysis, we examined the neuronal activity in specific brain regions of dyrk1aa KO zebrafish through in situ hybridization with various probes including c-fos and crh which are the molecular markers for stress response. RESULTS: Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism. From behavioral tests of social interaction and group behavior, dyrk1aa KO zebrafish exhibited social impairments that reproduce human phenotypes of autism in a vertebrate animal model. Social impairment in dyrk1aa KO zebrafish was further confirmed by molecular analysis of c-fos and crh expression. Transcriptional expression of c-fos and crh was lower than that of wild type fish in specific hypothalamic regions, suggesting that KO fish brains are less activated by social context. CONCLUSIONS: In this study, we established a zebrafish model to validate a candidate gene for autism in a vertebrate animal. These results illustrate the functional deficiency of DYRK1A as an underlying disease mechanism for autism. We also propose simple social behavioral assays as a tool for the broader study of autism candidate genes. En ligne : http://dx.doi.org/10.1186/s13229-017-0168-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330

---

1 (1 - 3 / 3)