Dépouillements

Talking about autism-thoughts for researchers / J. E. ROBISON in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1004-1006 Titre : Talking about autism-thoughts for researchers Type de document : Texte imprimé et/ou numérique Auteurs : J. E. ROBISON, Auteur Année de publication : 2019 Article en page(s) : p.1004-1006 Langues : Anglais (eng) Mots-clés : aging/ASD in adults  language  treatment research Index. décimale : PER Périodiques Résumé : At the 2019 strategic planning meeting the International Society for Autism Research (INSAR) board discussed the question of appropriate language to be used when speaking or writing about autism or affected individuals. Board members articulated a wide range of views on this subject, making clear that there is no single simple answer. This commentary was inspired by that discussion. It is by John Elder Robison who is both an INSAR board member and an individual diagnosed with autism. Autism Res 2019, 12: 1004-1006. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: How should researchers talk about autism? Personal reflections on writing and speaking about autism, with particular regard for affected individuals, be they autistic people, people with autism, or family members. This commentary is authored by John Elder Robison who is both an INSAR board member and an individual diagnosed with autism. En ligne : http://dx.doi.org/10.1002/aur.2119 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Talking about autism-thoughts for researchers [Texte imprimé et/ou numérique] / J. E. ROBISON, Auteur . - 2019 . - p.1004-1006. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1004-1006 Mots-clés : aging/ASD in adults  language  treatment research Index. décimale : PER Périodiques Résumé : At the 2019 strategic planning meeting the International Society for Autism Research (INSAR) board discussed the question of appropriate language to be used when speaking or writing about autism or affected individuals. Board members articulated a wide range of views on this subject, making clear that there is no single simple answer. This commentary was inspired by that discussion. It is by John Elder Robison who is both an INSAR board member and an individual diagnosed with autism. Autism Res 2019, 12: 1004-1006. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: How should researchers talk about autism? Personal reflections on writing and speaking about autism, with particular regard for affected individuals, be they autistic people, people with autism, or family members. This commentary is authored by John Elder Robison who is both an INSAR board member and an individual diagnosed with autism. En ligne : http://dx.doi.org/10.1002/aur.2119 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

The potential role of a retrotransposed gene and a long noncoding RNA in regulating an X-linked chromatin gene (KDM5C): Novel epigenetic mechanism in autism / Zohreh TALEBIZADEH in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1007-1021 Titre : The potential role of a retrotransposed gene and a long noncoding RNA in regulating an X-linked chromatin gene (KDM5C): Novel epigenetic mechanism in autism Type de document : Texte imprimé et/ou numérique Auteurs : Zohreh TALEBIZADEH, Auteur ; A. SHAH, Auteur ; L. DITACCHIO, Auteur Année de publication : 2019 Article en page(s) : p.1007-1021 Langues : Anglais (eng) Mots-clés : alternative splicing  autism  chromatin genes  circadian  long noncoding RNAs  retrotransposons Index. décimale : PER Périodiques Résumé : A growing body of evidence supports the potential role of the circadian system and chromatin remodeling genes in autism. Considering the heterogeneity and gender discrepancy in autism, and the complex nature of the epigenetic landscape, identification of biologically relevant epigenetic factors requires reducing heterogeneity using proper subtyping. For this study, we used X chromosome inactivation (XCI) status in females with autism as an epigenetic marker for subtyping and examined the expression level of members of KDM5, a chromatin remodeling gene family. KDM5 are histone demethylases involved in the circadian molecular machinery. We used human blood samples to characterize alternatively spliced KDM5 isoforms and noticed that KDM5C undergoes a complex splicing process. We also identified a KDM5C isoform (KDM5C-3'UTR-lncRNA) containing a novel 3'UTR originated from a retrotransposed gene (retro-SUV39H2) of an autosomal methyltransferase (SUV39H2). This 3'UTR shows 84% sequence homology with long ncRNAs (lncRNAs) and is located 32 kb downstream of KDM5C. The KDM5C-3'UTR-lncRNA isoform was differentially expressed in autistic females with XCI skewness compared with controls. KDM5C plays a crucial role in balancing histone H3K4 methylation states. The identified retro-SUV39H2 originated lncRNA also shows H3K4 marks. By assessing the expression level of alternatively spliced Kdm5 isoforms at different circadian time-points, we showed that some isoforms follow a circadian oscillation pattern in wild type mouse brain.This study provides the first evidence and a suggestive model for the potential role of retrotransposed elements in autism through linking methylases and demethylases, two functionally complementary components of chromatin remodeling, which may collectively contribute to disease etiology through lncRNAs. Autism Res 2019, 12: 1007-1021. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Genes do not function in isolated conditions and their proper expression level also depends on a mechanism called gene regulation. An example of gene regulation is when changes outside DNA sequences influence the function of autism susceptibility genes. Alternative splicing is one type of gene regulation, which produces several versions of a gene (called variants) that may slightly differ from each other and be expressed at different levels in response to environmental changes. The circadian clock is an essential timing mechanism that enables organisms to maintain internal processes in sync with the dynamic environment brought about by the day-night cycle. The goal of this study was to assess if a subset of females with autism with certain genetic marker had a unique pattern of alternative splicing of three circadian genes. We identified a novel variant that is differentially expressed in this subset. Our study provides a novel subject stratification strategy, and a suggestive model of how biologically relevant components of a gene regulatory process may be linked and, possibly, collectively contribute to the etiology of autism. En ligne : http://dx.doi.org/10.1002/aur.2116 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] The potential role of a retrotransposed gene and a long noncoding RNA in regulating an X-linked chromatin gene (KDM5C): Novel epigenetic mechanism in autism [Texte imprimé et/ou numérique] / Zohreh TALEBIZADEH, Auteur ; A. SHAH, Auteur ; L. DITACCHIO, Auteur . - 2019 . - p.1007-1021. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1007-1021 Mots-clés : alternative splicing  autism  chromatin genes  circadian  long noncoding RNAs  retrotransposons Index. décimale : PER Périodiques Résumé : A growing body of evidence supports the potential role of the circadian system and chromatin remodeling genes in autism. Considering the heterogeneity and gender discrepancy in autism, and the complex nature of the epigenetic landscape, identification of biologically relevant epigenetic factors requires reducing heterogeneity using proper subtyping. For this study, we used X chromosome inactivation (XCI) status in females with autism as an epigenetic marker for subtyping and examined the expression level of members of KDM5, a chromatin remodeling gene family. KDM5 are histone demethylases involved in the circadian molecular machinery. We used human blood samples to characterize alternatively spliced KDM5 isoforms and noticed that KDM5C undergoes a complex splicing process. We also identified a KDM5C isoform (KDM5C-3'UTR-lncRNA) containing a novel 3'UTR originated from a retrotransposed gene (retro-SUV39H2) of an autosomal methyltransferase (SUV39H2). This 3'UTR shows 84% sequence homology with long ncRNAs (lncRNAs) and is located 32 kb downstream of KDM5C. The KDM5C-3'UTR-lncRNA isoform was differentially expressed in autistic females with XCI skewness compared with controls. KDM5C plays a crucial role in balancing histone H3K4 methylation states. The identified retro-SUV39H2 originated lncRNA also shows H3K4 marks. By assessing the expression level of alternatively spliced Kdm5 isoforms at different circadian time-points, we showed that some isoforms follow a circadian oscillation pattern in wild type mouse brain.This study provides the first evidence and a suggestive model for the potential role of retrotransposed elements in autism through linking methylases and demethylases, two functionally complementary components of chromatin remodeling, which may collectively contribute to disease etiology through lncRNAs. Autism Res 2019, 12: 1007-1021. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Genes do not function in isolated conditions and their proper expression level also depends on a mechanism called gene regulation. An example of gene regulation is when changes outside DNA sequences influence the function of autism susceptibility genes. Alternative splicing is one type of gene regulation, which produces several versions of a gene (called variants) that may slightly differ from each other and be expressed at different levels in response to environmental changes. The circadian clock is an essential timing mechanism that enables organisms to maintain internal processes in sync with the dynamic environment brought about by the day-night cycle. The goal of this study was to assess if a subset of females with autism with certain genetic marker had a unique pattern of alternative splicing of three circadian genes. We identified a novel variant that is differentially expressed in this subset. Our study provides a novel subject stratification strategy, and a suggestive model of how biologically relevant components of a gene regulatory process may be linked and, possibly, collectively contribute to the etiology of autism. En ligne : http://dx.doi.org/10.1002/aur.2116 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Atypical longitudinal development of speech-evoked auditory brainstem response in preschool children with autism spectrum disorders / J. CHEN in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1022-1031 Titre : Atypical longitudinal development of speech-evoked auditory brainstem response in preschool children with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : J. CHEN, Auteur ; C. LIANG, Auteur ; Z. WEI, Auteur ; Z. CUI, Auteur ; X. KONG, Auteur ; C. J. DONG, Auteur ; Y. LAI, Auteur ; Z. PENG, Auteur ; G. WAN, Auteur Année de publication : 2019 Article en page(s) : p.1022-1031 Langues : Anglais (eng) Mots-clés : autism spectrum disorders  language impairment  preschool child  speech-evoked auditory brainstem response Index. décimale : PER Périodiques Résumé : Language impairment is common in children with autism spectrum disorders (ASDs). Previous research has shown that this disability may be, in part, due to atypical auditory processing of speech stimuli. However, how speech sounds are processed in children with ASD remains largely unknown. The present study assessed the developmental pattern of auditory information processing at the level of the brainstem in preschool children with ASD using speech-evoked auditory brainstem response (speech-ABR). Children with ASD (N = 15) and of typical developing (TD) (N = 20), both of preschool age, were enrolled. The speech-ABRs recorded at two different time points (T1 and T2; 9.68 months apart on average) were virtually identical in the TD group. However, in the ASD group, the wave V latency of speech-ABR was significantly shortened and the amplitudes of wave A and C were significantly larger at T2, compared to those recorded at T1 (10.78 months apart on average). Compared to the TD group, the wave V and A latencies were prolonged at T1, whereas the wave E amplitude decreased and wave F latency prolonged at T2. There was a positive partial correlation between the language performance and the wave A amplitude in the ASD group. These results indicate that auditory processing at the subcortical level is well-developed in the TD preschool children, but is immature and abnormal in the children with ASD at the same ages. Thus, aberrant speech processing at the brainstem level may contribute significantly to the language impairment in children with ASD at preschool ages. Autism Res 2019, 12: 1022-1031. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Language impairment is common in children with autism spectrum disorders (ASDs). We investigated the developmental pattern of subcortical auditory processing by monitoring changes in the speech-evoked auditory brainstem response (speech-ABR) over a period of 10 months in preschool children. Our results show that subcortical auditory processing is impaired and immature in children with ASD compared with age-matched, typically developing children. The results suggest that speech-ABR may be used as an objective measure in evaluating the language performance of children with ASD. The results also suggest that aberrant speech processing at the level of the brainstem may contribute significantly to the language impairment in preschool children with ASD. En ligne : http://dx.doi.org/10.1002/aur.2110 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Atypical longitudinal development of speech-evoked auditory brainstem response in preschool children with autism spectrum disorders [Texte imprimé et/ou numérique] / J. CHEN, Auteur ; C. LIANG, Auteur ; Z. WEI, Auteur ; Z. CUI, Auteur ; X. KONG, Auteur ; C. J. DONG, Auteur ; Y. LAI, Auteur ; Z. PENG, Auteur ; G. WAN, Auteur . - 2019 . - p.1022-1031. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1022-1031 Mots-clés : autism spectrum disorders  language impairment  preschool child  speech-evoked auditory brainstem response Index. décimale : PER Périodiques Résumé : Language impairment is common in children with autism spectrum disorders (ASDs). Previous research has shown that this disability may be, in part, due to atypical auditory processing of speech stimuli. However, how speech sounds are processed in children with ASD remains largely unknown. The present study assessed the developmental pattern of auditory information processing at the level of the brainstem in preschool children with ASD using speech-evoked auditory brainstem response (speech-ABR). Children with ASD (N = 15) and of typical developing (TD) (N = 20), both of preschool age, were enrolled. The speech-ABRs recorded at two different time points (T1 and T2; 9.68 months apart on average) were virtually identical in the TD group. However, in the ASD group, the wave V latency of speech-ABR was significantly shortened and the amplitudes of wave A and C were significantly larger at T2, compared to those recorded at T1 (10.78 months apart on average). Compared to the TD group, the wave V and A latencies were prolonged at T1, whereas the wave E amplitude decreased and wave F latency prolonged at T2. There was a positive partial correlation between the language performance and the wave A amplitude in the ASD group. These results indicate that auditory processing at the subcortical level is well-developed in the TD preschool children, but is immature and abnormal in the children with ASD at the same ages. Thus, aberrant speech processing at the brainstem level may contribute significantly to the language impairment in children with ASD at preschool ages. Autism Res 2019, 12: 1022-1031. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Language impairment is common in children with autism spectrum disorders (ASDs). We investigated the developmental pattern of subcortical auditory processing by monitoring changes in the speech-evoked auditory brainstem response (speech-ABR) over a period of 10 months in preschool children. Our results show that subcortical auditory processing is impaired and immature in children with ASD compared with age-matched, typically developing children. The results suggest that speech-ABR may be used as an objective measure in evaluating the language performance of children with ASD. The results also suggest that aberrant speech processing at the level of the brainstem may contribute significantly to the language impairment in preschool children with ASD. En ligne : http://dx.doi.org/10.1002/aur.2110 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Both the mirror and the affordance systems might be impaired in adults with high autistic traits. Evidence from EEG mu and beta rhythms / M. DE VEGA in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1032-1042 Titre : Both the mirror and the affordance systems might be impaired in adults with high autistic traits. Evidence from EEG mu and beta rhythms Type de document : Texte imprimé et/ou numérique Auteurs : M. DE VEGA, Auteur ; I. PADRON, Auteur ; I. Z. MORENO, Auteur ; E. GARCIA-MARCO, Auteur ; A. DOMINGUEZ, Auteur ; H. MARRERO, Auteur ; S. HERNANDEZ, Auteur Année de publication : 2019 Article en page(s) : p.1032-1042 Langues : Anglais (eng) Mots-clés : affordances  electroencephalography (EEG)  mirror neuron system  mu rhythms Index. décimale : PER Périodiques Résumé : The association of autism spectrum disorder (ASD) with an altered mirror neuron system is still controversial. At the same time, the processing of object affordances by persons with ASD is a neglected issue. In this electroencephalographic study, adults differing in their autism quotient (AQ) scores were selected. We found anomalous modulation of mu and beta rhythms in high-AQ, compared to low-AQ persons, while they watched a set of goal-directed manual actions. This confirms that observing actions involving implicit intentions most clearly reveals the impairment of the mirror neurons system (MNS). The high-AQ group also showed anomalous mu and beta modulation when they looked at pictures of manipulable objects, indicating a deficit in processing motor affordances. We conclude that high-AQ adults have neural impairment of both the MNS and the affordance systems, which could underlie their relational problems with both people and objects. Autism Res 2019, 12: 1032-1042. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Adults with autistic traits (high-autism quotient [AQ] scores) and matched controls (low-AQ) observed intentional hand actions, and pictures of manipulable and non-manipulable objects. The high-AQ group compared to the control group, showed anomalous modulation of the electroencephalographic motoric rhythms (mu and beta) while observing familiar goal-directed actions, confirming an impairment of their mirror neuron system. Also, their brain rhythms were anomalous when they watched manipulable objects, which suggest a dysfunction in their relation with objects (affordance system). En ligne : http://dx.doi.org/10.1002/aur.2121 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Both the mirror and the affordance systems might be impaired in adults with high autistic traits. Evidence from EEG mu and beta rhythms [Texte imprimé et/ou numérique] / M. DE VEGA, Auteur ; I. PADRON, Auteur ; I. Z. MORENO, Auteur ; E. GARCIA-MARCO, Auteur ; A. DOMINGUEZ, Auteur ; H. MARRERO, Auteur ; S. HERNANDEZ, Auteur . - 2019 . - p.1032-1042. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1032-1042 Mots-clés : affordances  electroencephalography (EEG)  mirror neuron system  mu rhythms Index. décimale : PER Périodiques Résumé : The association of autism spectrum disorder (ASD) with an altered mirror neuron system is still controversial. At the same time, the processing of object affordances by persons with ASD is a neglected issue. In this electroencephalographic study, adults differing in their autism quotient (AQ) scores were selected. We found anomalous modulation of mu and beta rhythms in high-AQ, compared to low-AQ persons, while they watched a set of goal-directed manual actions. This confirms that observing actions involving implicit intentions most clearly reveals the impairment of the mirror neurons system (MNS). The high-AQ group also showed anomalous mu and beta modulation when they looked at pictures of manipulable objects, indicating a deficit in processing motor affordances. We conclude that high-AQ adults have neural impairment of both the MNS and the affordance systems, which could underlie their relational problems with both people and objects. Autism Res 2019, 12: 1032-1042. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Adults with autistic traits (high-autism quotient [AQ] scores) and matched controls (low-AQ) observed intentional hand actions, and pictures of manipulable and non-manipulable objects. The high-AQ group compared to the control group, showed anomalous modulation of the electroencephalographic motoric rhythms (mu and beta) while observing familiar goal-directed actions, confirming an impairment of their mirror neuron system. Also, their brain rhythms were anomalous when they watched manipulable objects, which suggest a dysfunction in their relation with objects (affordance system). En ligne : http://dx.doi.org/10.1002/aur.2121 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3 / S. HOSIE in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1043-1056 Titre : Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3 Type de document : Texte imprimé et/ou numérique Auteurs : S. HOSIE, Auteur ; M. ELLIS, Auteur ; M. SWAMINATHAN, Auteur ; F. RAMALHOSA, Auteur ; G. O. SEGER, Auteur ; Gayathri K. BALASURIYA, Auteur ; C. GILLBERG, Auteur ; M. RASTAM, Auteur ; L. CHURILOV, Auteur ; S. J. MCKEOWN, Auteur ; N. YALCINKAYA, Auteur ; P. URVIL, Auteur ; Tor SAVIDGE, Auteur ; C. A. BELL, Auteur ; O. BODIN, Auteur ; J. WOOD, Auteur ; A. E. FRANKS, Auteur ; Joel C. BORNSTEIN, Auteur ; E. L. HILL-YARDIN, Auteur Année de publication : 2019 Article en page(s) : p.1043-1056 Langues : Anglais (eng) Mots-clés : autism  gastrointestinal symptoms  gut motility  immunofluorescence  mouse  neuroligin-3 Index. décimale : PER Périodiques Résumé : Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3. We confirm the presence of an array of synaptic genes in the murine GI tract and investigate the impact of impaired synaptic protein expression in mice carrying the human neuroligin-3 R451C missense mutation (NL3(R451C) ). Assessing in vivo gut dysfunction, we report faster small intestinal transit in NL3(R451C) compared to wild-type mice. Using an ex vivo colonic motility assay, we show increased sensitivity to GABAA receptor modulation in NL3(R451C) mice, a well-established Central Nervous System (CNS) feature associated with this mutation. We further show increased numbers of small intestine myenteric neurons in NL3(R451C) mice. Although we observed altered sensitivity to GABAA receptor modulators in the colon, there was no change in colonic neuronal numbers including the number of GABA-immunoreactive myenteric neurons. We further identified altered fecal microbial communities in NL3(R451C) mice. These results suggest that the R451C mutation affects small intestinal and colonic function and alter neuronal numbers in the small intestine as well as impact fecal microbes. Our findings identify a novel GI phenotype associated with the R451C mutation and highlight NL3(R451C) mice as a useful preclinical model of GI dysfunction in autism. Autism Res 2019, 12: 1043-1056. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: People with autism commonly experience gastrointestinal problems, however the cause is unknown. We report gut symptoms in patients with the autism-associated R451C mutation encoding the neuroligin-3 protein. We show that many of the genes implicated in autism are expressed in mouse gut. The neuroligin-3 R451C mutation alters the enteric nervous system, causes gastrointestinal dysfunction, and disrupts gut microbe populations in mice. Gut dysfunction in autism could be due to mutations that affect neuronal communication. En ligne : http://dx.doi.org/10.1002/aur.2127 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3 [Texte imprimé et/ou numérique] / S. HOSIE, Auteur ; M. ELLIS, Auteur ; M. SWAMINATHAN, Auteur ; F. RAMALHOSA, Auteur ; G. O. SEGER, Auteur ; Gayathri K. BALASURIYA, Auteur ; C. GILLBERG, Auteur ; M. RASTAM, Auteur ; L. CHURILOV, Auteur ; S. J. MCKEOWN, Auteur ; N. YALCINKAYA, Auteur ; P. URVIL, Auteur ; Tor SAVIDGE, Auteur ; C. A. BELL, Auteur ; O. BODIN, Auteur ; J. WOOD, Auteur ; A. E. FRANKS, Auteur ; Joel C. BORNSTEIN, Auteur ; E. L. HILL-YARDIN, Auteur . - 2019 . - p.1043-1056. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1043-1056 Mots-clés : autism  gastrointestinal symptoms  gut motility  immunofluorescence  mouse  neuroligin-3 Index. décimale : PER Périodiques Résumé : Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3. We confirm the presence of an array of synaptic genes in the murine GI tract and investigate the impact of impaired synaptic protein expression in mice carrying the human neuroligin-3 R451C missense mutation (NL3(R451C) ). Assessing in vivo gut dysfunction, we report faster small intestinal transit in NL3(R451C) compared to wild-type mice. Using an ex vivo colonic motility assay, we show increased sensitivity to GABAA receptor modulation in NL3(R451C) mice, a well-established Central Nervous System (CNS) feature associated with this mutation. We further show increased numbers of small intestine myenteric neurons in NL3(R451C) mice. Although we observed altered sensitivity to GABAA receptor modulators in the colon, there was no change in colonic neuronal numbers including the number of GABA-immunoreactive myenteric neurons. We further identified altered fecal microbial communities in NL3(R451C) mice. These results suggest that the R451C mutation affects small intestinal and colonic function and alter neuronal numbers in the small intestine as well as impact fecal microbes. Our findings identify a novel GI phenotype associated with the R451C mutation and highlight NL3(R451C) mice as a useful preclinical model of GI dysfunction in autism. Autism Res 2019, 12: 1043-1056. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: People with autism commonly experience gastrointestinal problems, however the cause is unknown. We report gut symptoms in patients with the autism-associated R451C mutation encoding the neuroligin-3 protein. We show that many of the genes implicated in autism are expressed in mouse gut. The neuroligin-3 R451C mutation alters the enteric nervous system, causes gastrointestinal dysfunction, and disrupts gut microbe populations in mice. Gut dysfunction in autism could be due to mutations that affect neuronal communication. En ligne : http://dx.doi.org/10.1002/aur.2127 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Effects of the Co-occurrence of Anxiety and Attention-Deficit/Hyperactivity Disorder on Intrinsic Functional Network Centrality among Children with Autism Spectrum Disorder / B. WAN in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1057-1068 Titre : Effects of the Co-occurrence of Anxiety and Attention-Deficit/Hyperactivity Disorder on Intrinsic Functional Network Centrality among Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : B. WAN, Auteur ; Z. WANG, Auteur ; M. JUNG, Auteur ; Y. LU, Auteur ; H. HE, Auteur ; Q. CHEN, Auteur ; Y. JIN, Auteur Année de publication : 2019 Article en page(s) : p.1057-1068 Langues : Anglais (eng) Mots-clés : Adhd  anxiety  autism spectrum disorder  functional degree centrality Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) present with a high co-occurrence of anxiety and attention-deficit/hyperactivity disorder (ADHD). However, it remains unclear how the co-occurrence of anxiety and ADHD in children with ASD alters whole-brain functional networks. Here, we aimed to examine anxiety- and ADHD-related brain network centrality in children with ASD separately and their relationships with ASD symptoms. Clinical anxiety and ADHD levels in children with ASD, aged 6-13 years old, were assessed. Participants were categorized into four groups: ASD only (n = 28), ASD + anxiety (n = 19), ASD + ADHD (n = 25), and ASD + both anxiety and ADHD (n = 28). Subsequently, we compared voxel-wise network degree centrality (DC) among the four groups. We found that: (a) compared with ASD only, children with ASD + anxiety showed higher DC in the left middle temporal gyrus, right lingual gyrus, and left cuneus, and lower DC in the right precuneus; (b) children with ASD + ADHD presented higher DC in the right calcarine and left superior frontal gyrus (SFG) compared with ASD only; (c) children with ASD + both displayed higher DC in the right calcarine and lower centrality in the right middle occipital gyrus compared with ASD only; and (d) across all children with ASD, there was a positive correlation between DC of the right calcarine with nonverbal behavior scores, and DC of the left SFG was negatively correlated with social scores. Our findings suggest that the right calcarine, left SFG, and default mode network nodes play important roles in the co-occurrence of anxiety and ADHD among children with ASD. Autism Res 2019, 12: 1057-1068. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The co-occurrence of anxiety and attention-deficit/hyperactivity disorder (ADHD) has been shown to influence the brain function of children with ASD. In order to gain a better understanding of this, the present study compared degree centrality, the amount of effective brain functional connectivity that reflects the characteristics of brain networks, among four groups: ASD only, ASD + anxiety, ASD + ADHD, and ASD + both anxiety and ADHD. We found that some areas located in the language processing network and primary visual cortex were associated with the co-occurrence of ADHD, and some other areas located in the default mode network were associated with the co-occurrence of both anxiety and ADHD. These findings provide more knowledge about the neural basis underlying behavioral changes related to the co-occurrence of anxiety and ADHD in children with ASD. En ligne : http://dx.doi.org/10.1002/aur.2120 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Effects of the Co-occurrence of Anxiety and Attention-Deficit/Hyperactivity Disorder on Intrinsic Functional Network Centrality among Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / B. WAN, Auteur ; Z. WANG, Auteur ; M. JUNG, Auteur ; Y. LU, Auteur ; H. HE, Auteur ; Q. CHEN, Auteur ; Y. JIN, Auteur . - 2019 . - p.1057-1068. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1057-1068 Mots-clés : Adhd  anxiety  autism spectrum disorder  functional degree centrality Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) present with a high co-occurrence of anxiety and attention-deficit/hyperactivity disorder (ADHD). However, it remains unclear how the co-occurrence of anxiety and ADHD in children with ASD alters whole-brain functional networks. Here, we aimed to examine anxiety- and ADHD-related brain network centrality in children with ASD separately and their relationships with ASD symptoms. Clinical anxiety and ADHD levels in children with ASD, aged 6-13 years old, were assessed. Participants were categorized into four groups: ASD only (n = 28), ASD + anxiety (n = 19), ASD + ADHD (n = 25), and ASD + both anxiety and ADHD (n = 28). Subsequently, we compared voxel-wise network degree centrality (DC) among the four groups. We found that: (a) compared with ASD only, children with ASD + anxiety showed higher DC in the left middle temporal gyrus, right lingual gyrus, and left cuneus, and lower DC in the right precuneus; (b) children with ASD + ADHD presented higher DC in the right calcarine and left superior frontal gyrus (SFG) compared with ASD only; (c) children with ASD + both displayed higher DC in the right calcarine and lower centrality in the right middle occipital gyrus compared with ASD only; and (d) across all children with ASD, there was a positive correlation between DC of the right calcarine with nonverbal behavior scores, and DC of the left SFG was negatively correlated with social scores. Our findings suggest that the right calcarine, left SFG, and default mode network nodes play important roles in the co-occurrence of anxiety and ADHD among children with ASD. Autism Res 2019, 12: 1057-1068. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The co-occurrence of anxiety and attention-deficit/hyperactivity disorder (ADHD) has been shown to influence the brain function of children with ASD. In order to gain a better understanding of this, the present study compared degree centrality, the amount of effective brain functional connectivity that reflects the characteristics of brain networks, among four groups: ASD only, ASD + anxiety, ASD + ADHD, and ASD + both anxiety and ADHD. We found that some areas located in the language processing network and primary visual cortex were associated with the co-occurrence of ADHD, and some other areas located in the default mode network were associated with the co-occurrence of both anxiety and ADHD. These findings provide more knowledge about the neural basis underlying behavioral changes related to the co-occurrence of anxiety and ADHD in children with ASD. En ligne : http://dx.doi.org/10.1002/aur.2120 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Evaluation of Platelet Parameters in Children with Autism Spectrum Disorder: Elongated Collagen-Adenosine Diphosphate and Collagen-Epinephrine Closure Times / N. COBAN in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1069-1076 Titre : Evaluation of Platelet Parameters in Children with Autism Spectrum Disorder: Elongated Collagen-Adenosine Diphosphate and Collagen-Epinephrine Closure Times Type de document : Texte imprimé et/ou numérique Auteurs : N. COBAN, Auteur ; C. GOKCEN, Auteur ; S. AKBAYRAM, Auteur ; B. CALISGAN, Auteur Année de publication : 2019 Article en page(s) : p.1069-1076 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  blood platelets  child psychiatry  platelet function tests  serotonin Index. décimale : PER Périodiques Résumé : Changes related to the serotonin system play a key role in the etiology of autism spectrum disorder (ASD). Although we know that platelets are associated with the serotonin system, their relation to ASD has not yet been elucidated. In this study, we aim to investigate platelet parameters in children with ASD. Forty patients with ASD according to Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) and 30 healthy controls were included in the study. A complete blood count was done to measure parameters relating to platelet morphology. Moreover, prothrombin time (PT) and activated partial thromboplastin time (aPTT) were evaluated. Lastly, platelet functions were assessed with a platelet functions analyzer 100 (PFA-100) device by measuring collagen-ADP and collagen-epinephrine (EPI) closure times. There was not a significant difference between the groups in terms of platelet count, mean platelet volume (MPV), platelet distribution width, plateletcrit, PT, or aPTT parameters for ASD patients when compared to the control group (P > 0.05). However, MPV in severe ASD, as quantified by the Childhood Autism Rating Scale, was found to be significantly lower when compared to mild to moderate ASD (P = 0.047). Moreover, in terms of platelet functions, the elongation in collagen-ADP and collagen-EPI closure times were significantly higher for the ASD group (P = 0.044). These results may suggest an impairment in platelet functions rather than in platelet morphology for children with ASD. Considering these results, further investigation of thrombocyte functions in the ASD may lead to a better understanding of the pathogenesis of ASD and to the development of our limited knowledge of this disorder. Autism Res 2019, 12: 1069-1076. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Serotonin is a chemical that is found in brain as wells as in blood cells that function in blood clotting in the human body. There are problems related to serotonin in brains of people who have autism. Thus, blood clotting cells may also be affected in people who have autism. In this study, we compare blood clotting functions of children with autism with that of healthy controls. En ligne : http://dx.doi.org/10.1002/aur.2122 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Evaluation of Platelet Parameters in Children with Autism Spectrum Disorder: Elongated Collagen-Adenosine Diphosphate and Collagen-Epinephrine Closure Times [Texte imprimé et/ou numérique] / N. COBAN, Auteur ; C. GOKCEN, Auteur ; S. AKBAYRAM, Auteur ; B. CALISGAN, Auteur . - 2019 . - p.1069-1076. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1069-1076 Mots-clés : autism spectrum disorder  blood platelets  child psychiatry  platelet function tests  serotonin Index. décimale : PER Périodiques Résumé : Changes related to the serotonin system play a key role in the etiology of autism spectrum disorder (ASD). Although we know that platelets are associated with the serotonin system, their relation to ASD has not yet been elucidated. In this study, we aim to investigate platelet parameters in children with ASD. Forty patients with ASD according to Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) and 30 healthy controls were included in the study. A complete blood count was done to measure parameters relating to platelet morphology. Moreover, prothrombin time (PT) and activated partial thromboplastin time (aPTT) were evaluated. Lastly, platelet functions were assessed with a platelet functions analyzer 100 (PFA-100) device by measuring collagen-ADP and collagen-epinephrine (EPI) closure times. There was not a significant difference between the groups in terms of platelet count, mean platelet volume (MPV), platelet distribution width, plateletcrit, PT, or aPTT parameters for ASD patients when compared to the control group (P > 0.05). However, MPV in severe ASD, as quantified by the Childhood Autism Rating Scale, was found to be significantly lower when compared to mild to moderate ASD (P = 0.047). Moreover, in terms of platelet functions, the elongation in collagen-ADP and collagen-EPI closure times were significantly higher for the ASD group (P = 0.044). These results may suggest an impairment in platelet functions rather than in platelet morphology for children with ASD. Considering these results, further investigation of thrombocyte functions in the ASD may lead to a better understanding of the pathogenesis of ASD and to the development of our limited knowledge of this disorder. Autism Res 2019, 12: 1069-1076. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Serotonin is a chemical that is found in brain as wells as in blood cells that function in blood clotting in the human body. There are problems related to serotonin in brains of people who have autism. Thus, blood clotting cells may also be affected in people who have autism. In this study, we compare blood clotting functions of children with autism with that of healthy controls. En ligne : http://dx.doi.org/10.1002/aur.2122 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

A non randomized mentalization intervention for parents of children with autism / Y. ENAV in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1077-1086 Titre : A non randomized mentalization intervention for parents of children with autism Type de document : Texte imprimé et/ou numérique Auteurs : Y. ENAV, Auteur ; D. ERHARD-WEISS, Auteur ; M. KOPELMAN, Auteur ; Andrea C. SAMSON, Auteur ; S. MEHTA, Auteur ; J. J. GROSS, Auteur ; A. Y. HARDAN, Auteur Année de publication : 2019 Article en page(s) : p.1077-1086 Langues : Anglais (eng) Mots-clés : autism  emotion regulation  group intervention  mentalization  parents Index. décimale : PER Périodiques Résumé : Parents of children diagnosed with autism spectrum disorder (ASD) report higher levels of stress and other negative affective states than parents of typically developing children. One important resource in managing these heightened levels of negative affect is emotion regulation, which in turn depends upon the ability to recognize and understand one's own and others' mental states (referred to as mentalization or reflective functioning). In this study, parents of children with ASD either participated in a mentalization-based group intervention (N = 36) or a delayed treatment (N = 28). Compared to delayed treatment participants, parents in the mentalization-based group had increases in reflective functioning and in the belief that emotions can change. Moreover, they reported decreased behavioral and emotional symptoms in their children, and greater parental self-efficacy. These preliminary findings support previous studies, which have shown that mentalization-based interventions for parents lead to positive outcomes, and suggest that these findings may apply to a diverse population of parents such as those of children with broader autism phenotype or children with different neurological disorders. Further studies to evaluate the effects of the intervention are recommended. Autism Res 2019, 12: 1077-1086. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In this study, parents of children with ASD participated in a group intervention designed to increase their awareness of mental states (their own and their children's) and to enhance their emotion regulation. Compared to delayed treatment parents, those in the intervention group showed increased awareness of developmental states, and reported increased belief that emotions can change and decreased levels of behavioral and emotional symptoms in their children. En ligne : http://dx.doi.org/10.1002/aur.2108 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] A non randomized mentalization intervention for parents of children with autism [Texte imprimé et/ou numérique] / Y. ENAV, Auteur ; D. ERHARD-WEISS, Auteur ; M. KOPELMAN, Auteur ; Andrea C. SAMSON, Auteur ; S. MEHTA, Auteur ; J. J. GROSS, Auteur ; A. Y. HARDAN, Auteur . - 2019 . - p.1077-1086. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1077-1086 Mots-clés : autism  emotion regulation  group intervention  mentalization  parents Index. décimale : PER Périodiques Résumé : Parents of children diagnosed with autism spectrum disorder (ASD) report higher levels of stress and other negative affective states than parents of typically developing children. One important resource in managing these heightened levels of negative affect is emotion regulation, which in turn depends upon the ability to recognize and understand one's own and others' mental states (referred to as mentalization or reflective functioning). In this study, parents of children with ASD either participated in a mentalization-based group intervention (N = 36) or a delayed treatment (N = 28). Compared to delayed treatment participants, parents in the mentalization-based group had increases in reflective functioning and in the belief that emotions can change. Moreover, they reported decreased behavioral and emotional symptoms in their children, and greater parental self-efficacy. These preliminary findings support previous studies, which have shown that mentalization-based interventions for parents lead to positive outcomes, and suggest that these findings may apply to a diverse population of parents such as those of children with broader autism phenotype or children with different neurological disorders. Further studies to evaluate the effects of the intervention are recommended. Autism Res 2019, 12: 1077-1086. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In this study, parents of children with ASD participated in a group intervention designed to increase their awareness of mental states (their own and their children's) and to enhance their emotion regulation. Compared to delayed treatment parents, those in the intervention group showed increased awareness of developmental states, and reported increased belief that emotions can change and decreased levels of behavioral and emotional symptoms in their children. En ligne : http://dx.doi.org/10.1002/aur.2108 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Cumulative Risk of the Oxytocin Receptor Gene Interacts with Prenatal Exposure to Oxytocin Receptor Antagonist to Predict Children's Social Communication Development / E. FRIEDLANDER in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1087-1100 Titre : Cumulative Risk of the Oxytocin Receptor Gene Interacts with Prenatal Exposure to Oxytocin Receptor Antagonist to Predict Children's Social Communication Development Type de document : Texte imprimé et/ou numérique Auteurs : E. FRIEDLANDER, Auteur ; N. YIRMIYA, Auteur ; E. LAIBA, Auteur ; A. HAREL-GADASSI, Auteur ; M. YAARI, Auteur ; O. FELDSTEIN, Auteur ; D. MANKUTA, Auteur ; S. ISRAEL, Auteur Année de publication : 2019 Article en page(s) : p.1087-1100 Langues : Anglais (eng) Mots-clés : Oxtr  autism spectrum disorder  gene-environment interaction  oxytocin  oxytocin receptor antagonist  oxytocin receptor gene Index. décimale : PER Périodiques Résumé : Compelling evidence for the far-reaching role of oxytocin (OT) in social cognition and affiliative behaviors set the basis for examining the association between genetic variation in the OT receptor (OXTR) gene and risk for autism spectrum disorder (ASD). In the current study, gene-environment interaction between OXTR and prenatal exposure to either OT or OXTR antagonist (OXTRA) in predicting early social communication development was examined. One hundred and fifty-three children (age: M = 4.32, SD = 1.07) were assigned to four groups based on prenatal history: children whose mothers prenatally received OXTRA and Nifedipine to delay preterm labor (n = 27); children whose mothers received Nifedipine only to delay preterm labor (n = 35); children whose mothers received OT for labor augmentation (n = 56), and a no intervention group (n = 35). Participants completed a developmental assessment of intelligence quotient (IQ), adaptive behavior, and social communication abilities. DNA was extracted via buccal swab. A genetic risk score was calculated based on four OXTR single nucleotide polymorphisms (rs53576, rs237887, rs1042778, and rs2254298) previously reported to be associated with ASD symptomatology. OXTRrisk-allele dosage was associated with more severe autism diagnostics observation schedule (ADOS) scores only in the OXTRA group. In contrast, in the Nifedipine, OT, and no intervention groups, OXTRrisk-allele dosage was not associated with children's ADOS scores. These findings highlight the importance of both genetic and environmental pathways of OT in signaling early social development and raise the need for further research in this field. Autism Res 2019, 12: 1087-1100. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In the current study, we examined if the association between prenatal exposure to an oxytocin receptor antagonist (OXTRA) and autism spectrum disorder (ASD) related impairments are dependent on an individual's genetic background for the oxytocin receptor gene (OXTR). Children who carried a greater number of risk alleles for the OXTR gene and whose mothers received OXTRA to delay preterm labor showed more ASD-related impairments. The results highlight the importance of both genetic and environmental pathways of oxytocin in shaping early social development. En ligne : http://dx.doi.org/10.1002/aur.2111 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Cumulative Risk of the Oxytocin Receptor Gene Interacts with Prenatal Exposure to Oxytocin Receptor Antagonist to Predict Children's Social Communication Development [Texte imprimé et/ou numérique] / E. FRIEDLANDER, Auteur ; N. YIRMIYA, Auteur ; E. LAIBA, Auteur ; A. HAREL-GADASSI, Auteur ; M. YAARI, Auteur ; O. FELDSTEIN, Auteur ; D. MANKUTA, Auteur ; S. ISRAEL, Auteur . - 2019 . - p.1087-1100. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1087-1100 Mots-clés : Oxtr  autism spectrum disorder  gene-environment interaction  oxytocin  oxytocin receptor antagonist  oxytocin receptor gene Index. décimale : PER Périodiques Résumé : Compelling evidence for the far-reaching role of oxytocin (OT) in social cognition and affiliative behaviors set the basis for examining the association between genetic variation in the OT receptor (OXTR) gene and risk for autism spectrum disorder (ASD). In the current study, gene-environment interaction between OXTR and prenatal exposure to either OT or OXTR antagonist (OXTRA) in predicting early social communication development was examined. One hundred and fifty-three children (age: M = 4.32, SD = 1.07) were assigned to four groups based on prenatal history: children whose mothers prenatally received OXTRA and Nifedipine to delay preterm labor (n = 27); children whose mothers received Nifedipine only to delay preterm labor (n = 35); children whose mothers received OT for labor augmentation (n = 56), and a no intervention group (n = 35). Participants completed a developmental assessment of intelligence quotient (IQ), adaptive behavior, and social communication abilities. DNA was extracted via buccal swab. A genetic risk score was calculated based on four OXTR single nucleotide polymorphisms (rs53576, rs237887, rs1042778, and rs2254298) previously reported to be associated with ASD symptomatology. OXTRrisk-allele dosage was associated with more severe autism diagnostics observation schedule (ADOS) scores only in the OXTRA group. In contrast, in the Nifedipine, OT, and no intervention groups, OXTRrisk-allele dosage was not associated with children's ADOS scores. These findings highlight the importance of both genetic and environmental pathways of OT in signaling early social development and raise the need for further research in this field. Autism Res 2019, 12: 1087-1100. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In the current study, we examined if the association between prenatal exposure to an oxytocin receptor antagonist (OXTRA) and autism spectrum disorder (ASD) related impairments are dependent on an individual's genetic background for the oxytocin receptor gene (OXTR). Children who carried a greater number of risk alleles for the OXTR gene and whose mothers received OXTRA to delay preterm labor showed more ASD-related impairments. The results highlight the importance of both genetic and environmental pathways of oxytocin in shaping early social development. En ligne : http://dx.doi.org/10.1002/aur.2111 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Validation of the 36-item and 12-item self-report World Health Organization Disability Assessment Schedule II (WHODAS-II) in individuals with autism spectrum disorder / S. H. PARK in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1101-1111 Titre : Validation of the 36-item and 12-item self-report World Health Organization Disability Assessment Schedule II (WHODAS-II) in individuals with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : S. H. PARK, Auteur ; Eleni A. DEMETRIOU, Auteur ; K. L. PEPPER, Auteur ; Y. J. C. SONG, Auteur ; E. E. THOMAS, Auteur ; I. B. HICKIE, Auteur ; N. GLOZIER, Auteur ; A. J. GUASTELLA, Auteur Année de publication : 2019 Article en page(s) : p.1101-1111 Langues : Anglais (eng) Mots-clés : Whodas  autism spectrum disorder  disability  internal consistency  validity Index. décimale : PER Périodiques Résumé : The World Health Organization Disability Assessment Schedule II (WHODAS-II) is one of the most widely used generic assessments for measuring disability levels in both clinical and nonclinical populations, with sound psychometrics that is also aligned with the International Classification of Functioning framework. However, its psychometric properties have not been explored extensively in individuals with autism spectrum disorder (ASD). This study examined the psychometric properties of the 36-item and 12-item Self-Report WHODAS-II from 109 individuals diagnosed with ASD and without intellectual disability (IQ >/= 70). Participants were consecutively recruited from the Brain and Mind Centre in New South Wales, Australia. The WHODAS-II showed adequate internal consistency for all domain scores (alpha = 0.78-0.97 for 36-item) and for the summary scale (alpha = 0.95 for 36-item; 0.86 for 12-item). All items also exhibited satisfactory correlations with their respective domain (r = 0.39-0.94 for 36-item) and summary scores (r = 0.42-0.71 for 36-item; 0.42-0.67 for 12-item), except item 4.5 "sexual activity" from the 36-item WHODAS-II (r = 0.19). Concurrent validity was shown by moderate correlations between similar constructs across the WHODAS-II and the World Health Organization Quality of Life BREF (Ps < 0.05). The second-order 7-factor model showed the best fit for the 36-item WHODAS-II, while the second-order 6-factor model demonstrated an acceptable fit for the 12-item WHODAS-II. The model fit could be improved with some modifications. The Schmid-Leiman transformation further confirmed the appropriateness of the second-order factor structure. Overall, the results indicated that the WHODAS-II is a viable generic self-report measure for disability in autistic individuals without ID. Autism Res 2019, 12: 1101-1111. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The majority of autistic people have a disability with a profound or severe limitation in their core activities. However, there is currently limited research identifying reliable and valid self-report measures for disability in the autistic population. This study examined the psychometric properties of the World Health Organization Disability Assessment Schedule II (WHODAS-II) from 109 autistic individuals without intellectual disability. Our results suggest that the WHODAS-II is a viable generic self-report measure for disability in autistic individuals. En ligne : http://dx.doi.org/10.1002/aur.2115 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Validation of the 36-item and 12-item self-report World Health Organization Disability Assessment Schedule II (WHODAS-II) in individuals with autism spectrum disorder [Texte imprimé et/ou numérique] / S. H. PARK, Auteur ; Eleni A. DEMETRIOU, Auteur ; K. L. PEPPER, Auteur ; Y. J. C. SONG, Auteur ; E. E. THOMAS, Auteur ; I. B. HICKIE, Auteur ; N. GLOZIER, Auteur ; A. J. GUASTELLA, Auteur . - 2019 . - p.1101-1111. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1101-1111 Mots-clés : Whodas  autism spectrum disorder  disability  internal consistency  validity Index. décimale : PER Périodiques Résumé : The World Health Organization Disability Assessment Schedule II (WHODAS-II) is one of the most widely used generic assessments for measuring disability levels in both clinical and nonclinical populations, with sound psychometrics that is also aligned with the International Classification of Functioning framework. However, its psychometric properties have not been explored extensively in individuals with autism spectrum disorder (ASD). This study examined the psychometric properties of the 36-item and 12-item Self-Report WHODAS-II from 109 individuals diagnosed with ASD and without intellectual disability (IQ >/= 70). Participants were consecutively recruited from the Brain and Mind Centre in New South Wales, Australia. The WHODAS-II showed adequate internal consistency for all domain scores (alpha = 0.78-0.97 for 36-item) and for the summary scale (alpha = 0.95 for 36-item; 0.86 for 12-item). All items also exhibited satisfactory correlations with their respective domain (r = 0.39-0.94 for 36-item) and summary scores (r = 0.42-0.71 for 36-item; 0.42-0.67 for 12-item), except item 4.5 "sexual activity" from the 36-item WHODAS-II (r = 0.19). Concurrent validity was shown by moderate correlations between similar constructs across the WHODAS-II and the World Health Organization Quality of Life BREF (Ps < 0.05). The second-order 7-factor model showed the best fit for the 36-item WHODAS-II, while the second-order 6-factor model demonstrated an acceptable fit for the 12-item WHODAS-II. The model fit could be improved with some modifications. The Schmid-Leiman transformation further confirmed the appropriateness of the second-order factor structure. Overall, the results indicated that the WHODAS-II is a viable generic self-report measure for disability in autistic individuals without ID. Autism Res 2019, 12: 1101-1111. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The majority of autistic people have a disability with a profound or severe limitation in their core activities. However, there is currently limited research identifying reliable and valid self-report measures for disability in the autistic population. This study examined the psychometric properties of the World Health Organization Disability Assessment Schedule II (WHODAS-II) from 109 autistic individuals without intellectual disability. Our results suggest that the WHODAS-II is a viable generic self-report measure for disability in autistic individuals. En ligne : http://dx.doi.org/10.1002/aur.2115 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

The Feasibility and Validity of Autism Spectrum Disorder Screening Instrument: Behavior Development Screening for Toddlers (BeDevel)-A Pilot Study / Guiyoung BONG in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1112-1128 Titre : The Feasibility and Validity of Autism Spectrum Disorder Screening Instrument: Behavior Development Screening for Toddlers (BeDevel)-A Pilot Study Type de document : Texte imprimé et/ou numérique Auteurs : Guiyoung BONG, Auteur ; J. H. KIM, Auteur ; Y. HONG, Auteur ; N. H. YOON, Auteur ; H. SUNWOO, Auteur ; J. Y. JANG, Auteur ; M. OH, Auteur ; K. S. LEE, Auteur ; S. JUNG, Auteur ; H. J. YOO, Auteur Année de publication : 2019 Article en page(s) : p.1112-1128 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  early detection  early screening  early sign  toddler Index. décimale : PER Périodiques Résumé : Although early screening is critical for individuals with autism spectrum disorder (ASD) in order to receive early intervention and improve function later in life, screening is often delayed. Limitations of existing screening instruments, and the need for a culturally appropriate early screening tool in Korean children, led us to develop Behavior Development Screening for Toddlers (BeDevel). The BeDevel assessment consists of two parts: BeDevel-Interview, a structured interview measure for parents/primary caregivers; and BeDevel-Play, a play-based semi-structured observational measure in children. To examine the feasibility and validity of BeDevel, 155 children (N = 75 ASD, N = 55 typical development, N = 25 developmentally delayed) aged 18-42 months (M = 31.54 months, SD = 7.60) were examined through parent-reported screening questionnaires, BeDevel, and standard diagnostic assessments. When BeDevel items were analyzed using Cohen's kappa statistics, most items in BeDevel-Interview and all items in BeDevel-Play were reasonably consistent with diagnoses. We identified primary items, which were significantly interacted with actual diagnosis in the chi-squared test (P < 0.05, range = 0.000-0.032). Using cutoff numbers of items determined using the receiver operating characteristics curve, BeDevel showed satisfactory levels of sensitivity (83.33%-100%), specificity (81.25%-100%), positive predictive values (80.65%-100%), and negative predictive values (83.87%-100%), as well as high internal consistency (Cronbach's alpha = 0.866-959). The agreement between BeDevel and most other screening/diagnostic instruments was moderate (k = 0.419-1.000). These results suggest that BeDevel can be a useful instrument for early screening of ASD. Autism Res 2019, 12: 1112-1128. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Although early screening is critical for individuals with autism spectrum disorder (ASD) in order to receive early intervention and improve function later in life, screening is often delayed. Limitations of existing screening instruments and the need for a culturally appropriate early screening tool in Korean children led us to develop Behavior Development Screening for Toddlers (BeDevel). The BeDevel assessment consists of two parts: BeDevel-Interview, a structured interview measure for parents/primary caregivers; and BeDevel-Play, a play-based, semi-structured observational measure in children. In order to test the feasibility and validity of BeDevel, we analyzed preliminary data of total 155 children aged 18-42 months, examined through parent-reported screening questionnaires, BeDevel, and standard diagnostic assessments. When individual items were analyzed, responses of all BeDevel-Interview items and of most BeDevel-Play items well matched actual diagnoses, and we identified primary items, which were particularly useful in differentiating between the ASD group and the non-ASD group. With the optimal screening criteria determined, the BeDevel was able to identify individuals with a diagnosis of ASD and those without it, all at satisfactory levels. Lastly, BeDevel items were closely related as a set, and the BeDevel screening results were reasonably consistent with the results of most other screening/diagnostic instruments. These results suggest that BeDevel can be a useful instrument for early screening of ASD. En ligne : http://dx.doi.org/10.1002/aur.2117 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] The Feasibility and Validity of Autism Spectrum Disorder Screening Instrument: Behavior Development Screening for Toddlers (BeDevel)-A Pilot Study [Texte imprimé et/ou numérique] / Guiyoung BONG, Auteur ; J. H. KIM, Auteur ; Y. HONG, Auteur ; N. H. YOON, Auteur ; H. SUNWOO, Auteur ; J. Y. JANG, Auteur ; M. OH, Auteur ; K. S. LEE, Auteur ; S. JUNG, Auteur ; H. J. YOO, Auteur . - 2019 . - p.1112-1128. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1112-1128 Mots-clés : autism spectrum disorder  early detection  early screening  early sign  toddler Index. décimale : PER Périodiques Résumé : Although early screening is critical for individuals with autism spectrum disorder (ASD) in order to receive early intervention and improve function later in life, screening is often delayed. Limitations of existing screening instruments, and the need for a culturally appropriate early screening tool in Korean children, led us to develop Behavior Development Screening for Toddlers (BeDevel). The BeDevel assessment consists of two parts: BeDevel-Interview, a structured interview measure for parents/primary caregivers; and BeDevel-Play, a play-based semi-structured observational measure in children. To examine the feasibility and validity of BeDevel, 155 children (N = 75 ASD, N = 55 typical development, N = 25 developmentally delayed) aged 18-42 months (M = 31.54 months, SD = 7.60) were examined through parent-reported screening questionnaires, BeDevel, and standard diagnostic assessments. When BeDevel items were analyzed using Cohen's kappa statistics, most items in BeDevel-Interview and all items in BeDevel-Play were reasonably consistent with diagnoses. We identified primary items, which were significantly interacted with actual diagnosis in the chi-squared test (P < 0.05, range = 0.000-0.032). Using cutoff numbers of items determined using the receiver operating characteristics curve, BeDevel showed satisfactory levels of sensitivity (83.33%-100%), specificity (81.25%-100%), positive predictive values (80.65%-100%), and negative predictive values (83.87%-100%), as well as high internal consistency (Cronbach's alpha = 0.866-959). The agreement between BeDevel and most other screening/diagnostic instruments was moderate (k = 0.419-1.000). These results suggest that BeDevel can be a useful instrument for early screening of ASD. Autism Res 2019, 12: 1112-1128. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Although early screening is critical for individuals with autism spectrum disorder (ASD) in order to receive early intervention and improve function later in life, screening is often delayed. Limitations of existing screening instruments and the need for a culturally appropriate early screening tool in Korean children led us to develop Behavior Development Screening for Toddlers (BeDevel). The BeDevel assessment consists of two parts: BeDevel-Interview, a structured interview measure for parents/primary caregivers; and BeDevel-Play, a play-based, semi-structured observational measure in children. In order to test the feasibility and validity of BeDevel, we analyzed preliminary data of total 155 children aged 18-42 months, examined through parent-reported screening questionnaires, BeDevel, and standard diagnostic assessments. When individual items were analyzed, responses of all BeDevel-Interview items and of most BeDevel-Play items well matched actual diagnoses, and we identified primary items, which were particularly useful in differentiating between the ASD group and the non-ASD group. With the optimal screening criteria determined, the BeDevel was able to identify individuals with a diagnosis of ASD and those without it, all at satisfactory levels. Lastly, BeDevel items were closely related as a set, and the BeDevel screening results were reasonably consistent with the results of most other screening/diagnostic instruments. These results suggest that BeDevel can be a useful instrument for early screening of ASD. En ligne : http://dx.doi.org/10.1002/aur.2117 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Emergency department utilization and monetary charges in adolescents with autism spectrum disorder, intellectual disability, and a population comparison group / B. N. HAND in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1129-1138 Titre : Emergency department utilization and monetary charges in adolescents with autism spectrum disorder, intellectual disability, and a population comparison group Type de document : Texte imprimé et/ou numérique Auteurs : B. N. HAND, Auteur ; Andrea BOAN, Auteur ; Catherine BRADLEY, Auteur ; J. M. CHARLES, Auteur ; Laura A. CARPENTER, Auteur Année de publication : 2019 Article en page(s) : p.1129-1138 Langues : Anglais (eng) Mots-clés : children  epidemiology-descriptive  intellectual disability  pediatrics Index. décimale : PER Périodiques Résumé : Adolescents with autism spectrum disorder (ASD) and/or intellectual disability (ID) may utilize the emergency department (ED) more frequently than individuals in the general population. This study compared ED utilization and charges during adolescence among four groups of individuals: ASD-only, ASD + ID, ID-only, and a population comparison (PC) group. ED visits occurring during age 12-17 years were examined to identify non, low, and high utilizers. Logistic regression was used to compare groups on the odds of having at least one ED visit during adolescence. Generalized linear models were used to compare groups on number of ED visits and total charges, stratified by low and high ED utilization. Descriptive examination of presenting diagnoses was performed. Individuals with ID, with or without co-occurring ASD, were significantly more likely to have at least one ED visit during adolescence. Among high ED utilizers, the ID-only group had the most frequent ED visits but had significantly lower charges than the ASD-only group. Individuals with ASD-only and ASD + ID differed from the ID-only and PC groups in presenting diagnoses. No differences between groups in number of ED visits or charges were observed among low utilizers. ID, with or without ASD, increased the odds of visiting the ED during adolescence. Adolescents with ID-only had the most frequent ED visits, but individuals with ASD-only had the highest ED charges and tended to be seen for psychiatric concerns. Further research is warranted to better characterize and meet the healthcare needs of individuals with ASD and/or ID during adolescence. Autism Res 2019, 12: 1129-1138. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Frequent emergency department (ED) visits strain medical resources and are costlier than primary and urgent care. Our findings show that adolescents with intellectual disability (ID) may use the ED frequently for nonurgent conditions. Adolescents with autism spectrum disorder, without ID, use the ED less frequently but incur higher charges. Further research is needed to understand how to meet the unique needs of these populations in primary care to prevent overuse of the ED. En ligne : http://dx.doi.org/10.1002/aur.2124 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Emergency department utilization and monetary charges in adolescents with autism spectrum disorder, intellectual disability, and a population comparison group [Texte imprimé et/ou numérique] / B. N. HAND, Auteur ; Andrea BOAN, Auteur ; Catherine BRADLEY, Auteur ; J. M. CHARLES, Auteur ; Laura A. CARPENTER, Auteur . - 2019 . - p.1129-1138. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1129-1138 Mots-clés : children  epidemiology-descriptive  intellectual disability  pediatrics Index. décimale : PER Périodiques Résumé : Adolescents with autism spectrum disorder (ASD) and/or intellectual disability (ID) may utilize the emergency department (ED) more frequently than individuals in the general population. This study compared ED utilization and charges during adolescence among four groups of individuals: ASD-only, ASD + ID, ID-only, and a population comparison (PC) group. ED visits occurring during age 12-17 years were examined to identify non, low, and high utilizers. Logistic regression was used to compare groups on the odds of having at least one ED visit during adolescence. Generalized linear models were used to compare groups on number of ED visits and total charges, stratified by low and high ED utilization. Descriptive examination of presenting diagnoses was performed. Individuals with ID, with or without co-occurring ASD, were significantly more likely to have at least one ED visit during adolescence. Among high ED utilizers, the ID-only group had the most frequent ED visits but had significantly lower charges than the ASD-only group. Individuals with ASD-only and ASD + ID differed from the ID-only and PC groups in presenting diagnoses. No differences between groups in number of ED visits or charges were observed among low utilizers. ID, with or without ASD, increased the odds of visiting the ED during adolescence. Adolescents with ID-only had the most frequent ED visits, but individuals with ASD-only had the highest ED charges and tended to be seen for psychiatric concerns. Further research is warranted to better characterize and meet the healthcare needs of individuals with ASD and/or ID during adolescence. Autism Res 2019, 12: 1129-1138. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Frequent emergency department (ED) visits strain medical resources and are costlier than primary and urgent care. Our findings show that adolescents with intellectual disability (ID) may use the ED frequently for nonurgent conditions. Adolescents with autism spectrum disorder, without ID, use the ED less frequently but incur higher charges. Further research is needed to understand how to meet the unique needs of these populations in primary care to prevent overuse of the ED. En ligne : http://dx.doi.org/10.1002/aur.2124 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Preventing elopement in children with autism spectrum disorder / S. PEREIRA-SMITH in Autism Research, 12-7 (July 2019)  

Public ISBD [article]  inAutism Research > 12-7 (July 2019) . - p.1139-1146 Titre : Preventing elopement in children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : S. PEREIRA-SMITH, Auteur ; Andrea BOAN, Auteur ; Laura A. CARPENTER, Auteur ; M. MACIAS, Auteur ; A. LAROSA, Auteur Année de publication : 2019 Article en page(s) : p.1139-1146 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  elopement  preventive measure Index. décimale : PER Périodiques Résumé : Reports of missing children with autism spectrum disorder (ASD) are common in the media, and elopement can lead to dire consequences. This study quantified the use of preventive measures that target elopement, plus identified child/family characteristics associated with elopement and the use of preventive measures. This cross-sectional study included 394 caregivers of children ages 2-17 years with ASD followed in an academic medical center's Developmental-Behavioral Pediatrics clinic. Details about elopement, preventive measure use, and sociodemographic characteristics were assessed via an investigator-designed, parent advocate-approved questionnaire, while pertinent clinical factors were extracted from patients' electronic health records. Two hundred and sixty-seven caregivers (68%) reported elopement by their child. Elopement risk was not associated with sociodemographic characteristics, nor with any specific comorbidity or neurobehavioral medication. Children with limited communication skills were more likely to have a history of elopement (OR 2.24, 95% CI 1.30-3.84; P = 0.004). The most common preventive measure used was lock(s) at top of doors (51%), while less than a quarter of families were using handicap permits, signs/visual markers, or tracking devices. Implementation of certain modifications was statistically associated with socioeconomic status and comorbidities of interest. In addition to supporting previous literature about the increased elopement risk in children with limited communication skills, this study is the first to reveal that caregiver use of numerous preventive measures varies widely. The associations noted with use of specific preventive measures can help guide recommendations for this dangerous comorbid symptom, and provide information needed for future studies to assess the efficacy of various preventive measures. Autism Res 2019, 12: 1139-1146. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Elopement, defined as leaving an area without permission and placing oneself in a potentially dangerous situation, is a behavior exhibited by many children with autism. There is little information about the use of various modifications that target elopement in the pediatric population. This study identifies child/family characteristics that were related to elopement and the use of modifications, and stresses the importance of counseling families of children with autism about elopement. En ligne : http://dx.doi.org/10.1002/aur.2114 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Preventing elopement in children with autism spectrum disorder [Texte imprimé et/ou numérique] / S. PEREIRA-SMITH, Auteur ; Andrea BOAN, Auteur ; Laura A. CARPENTER, Auteur ; M. MACIAS, Auteur ; A. LAROSA, Auteur . - 2019 . - p.1139-1146. Langues : Anglais (eng) in Autism Research > 12-7 (July 2019) . - p.1139-1146 Mots-clés : autism spectrum disorder  elopement  preventive measure Index. décimale : PER Périodiques Résumé : Reports of missing children with autism spectrum disorder (ASD) are common in the media, and elopement can lead to dire consequences. This study quantified the use of preventive measures that target elopement, plus identified child/family characteristics associated with elopement and the use of preventive measures. This cross-sectional study included 394 caregivers of children ages 2-17 years with ASD followed in an academic medical center's Developmental-Behavioral Pediatrics clinic. Details about elopement, preventive measure use, and sociodemographic characteristics were assessed via an investigator-designed, parent advocate-approved questionnaire, while pertinent clinical factors were extracted from patients' electronic health records. Two hundred and sixty-seven caregivers (68%) reported elopement by their child. Elopement risk was not associated with sociodemographic characteristics, nor with any specific comorbidity or neurobehavioral medication. Children with limited communication skills were more likely to have a history of elopement (OR 2.24, 95% CI 1.30-3.84; P = 0.004). The most common preventive measure used was lock(s) at top of doors (51%), while less than a quarter of families were using handicap permits, signs/visual markers, or tracking devices. Implementation of certain modifications was statistically associated with socioeconomic status and comorbidities of interest. In addition to supporting previous literature about the increased elopement risk in children with limited communication skills, this study is the first to reveal that caregiver use of numerous preventive measures varies widely. The associations noted with use of specific preventive measures can help guide recommendations for this dangerous comorbid symptom, and provide information needed for future studies to assess the efficacy of various preventive measures. Autism Res 2019, 12: 1139-1146. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Elopement, defined as leaving an area without permission and placing oneself in a potentially dangerous situation, is a behavior exhibited by many children with autism. There is little information about the use of various modifications that target elopement in the pediatric population. This study identifies child/family characteristics that were related to elopement and the use of modifications, and stresses the importance of counseling families of children with autism about elopement. En ligne : http://dx.doi.org/10.1002/aur.2114 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402