Bio-collections in autism research / J. REILLY in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 34p. Titre : Bio-collections in autism research Type de document : Texte imprimé et/ou numérique Auteurs : J. REILLY, Auteur ; L. GALLAGHER, Auteur ; J. L. CHEN, Auteur ; G. LEADER, Auteur ; S. SHEN, Auteur Article en page(s) : 34p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with diverse clinical manifestations and symptoms. In the last 10 years, there have been significant advances in understanding the genetic basis for ASD, critically supported through the establishment of ASD bio-collections and application in research. Here, we summarise a selection of major ASD bio-collections and their associated findings. Collectively, these include mapping ASD candidate genes, assessing the nature and frequency of gene mutations and their association with ASD clinical subgroups, insights into related molecular pathways such as the synapses, chromatin remodelling, transcription and ASD-related brain regions. We also briefly review emerging studies on the use of induced pluripotent stem cells (iPSCs) to potentially model ASD in culture. These provide deeper insight into ASD progression during development and could generate human cell models for drug screening. Finally, we provide perspectives concerning the utilities of ASD bio-collections and limitations, and highlight considerations in setting up a new bio-collection for ASD research. En ligne : http://dx.doi.org/10.1186/s13229-017-0154-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 [article] Bio-collections in autism research [Texte imprimé et/ou numérique] / J. REILLY, Auteur ; L. GALLAGHER, Auteur ; J. L. CHEN, Auteur ; G. LEADER, Auteur ; S. SHEN, Auteur . - 34p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 34p. Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with diverse clinical manifestations and symptoms. In the last 10 years, there have been significant advances in understanding the genetic basis for ASD, critically supported through the establishment of ASD bio-collections and application in research. Here, we summarise a selection of major ASD bio-collections and their associated findings. Collectively, these include mapping ASD candidate genes, assessing the nature and frequency of gene mutations and their association with ASD clinical subgroups, insights into related molecular pathways such as the synapses, chromatin remodelling, transcription and ASD-related brain regions. We also briefly review emerging studies on the use of induced pluripotent stem cells (iPSCs) to potentially model ASD in culture. These provide deeper insight into ASD progression during development and could generate human cell models for drug screening. Finally, we provide perspectives concerning the utilities of ASD bio-collections and limitations, and highlight considerations in setting up a new bio-collection for ASD research. En ligne : http://dx.doi.org/10.1186/s13229-017-0154-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330

Gaining Insights into Aggressive Behaviour in Autism Spectrum Disorder Using Latent Profile Analysis / M. O. SULLIVAN in Journal of Autism and Developmental Disorders, 49-10 (October 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-10 (October 2019) . - p.4209-4218 Titre : Gaining Insights into Aggressive Behaviour in Autism Spectrum Disorder Using Latent Profile Analysis Type de document : Texte imprimé et/ou numérique Auteurs : M. O. SULLIVAN, Auteur ; L. GALLAGHER, Auteur ; E. A. HERON, Auteur Article en page(s) : p.4209-4218 Langues : Anglais (eng) Mots-clés : Aggression  Anxiety  Autism spectrum disorder  Child behaviour checklist  Iq  Latent profile analysis Index. décimale : PER Périodiques Résumé : Aggressive behaviour is a significant issue for individuals with autism spectrum disorder (ASD), yet our understanding is limited compared to aggression in typically developing populations. This study examined behavioural, adaptive and cognitive data provided by the Simons Simplex Collection (N = 2184) to identify behavioural subgroups in children and adolescents with ASD using latent profile analysis. Results showed five subgroups that differed with regards to behavioural severity, IQ and adaptive behaviour. In two profiles with higher aggression, individuals had greater comorbid anxiety symptoms and attentional deficits and also differed in adaptive behaviour and IQ. These results identify potentially important avenues for research in aggressive behaviour in ASD. En ligne : http://dx.doi.org/10.1007/s10803-019-04129-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=407 [article] Gaining Insights into Aggressive Behaviour in Autism Spectrum Disorder Using Latent Profile Analysis [Texte imprimé et/ou numérique] / M. O. SULLIVAN, Auteur ; L. GALLAGHER, Auteur ; E. A. HERON, Auteur . - p.4209-4218. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-10 (October 2019) . - p.4209-4218 Mots-clés : Aggression  Anxiety  Autism spectrum disorder  Child behaviour checklist  Iq  Latent profile analysis Index. décimale : PER Périodiques Résumé : Aggressive behaviour is a significant issue for individuals with autism spectrum disorder (ASD), yet our understanding is limited compared to aggression in typically developing populations. This study examined behavioural, adaptive and cognitive data provided by the Simons Simplex Collection (N = 2184) to identify behavioural subgroups in children and adolescents with ASD using latent profile analysis. Results showed five subgroups that differed with regards to behavioural severity, IQ and adaptive behaviour. In two profiles with higher aggression, individuals had greater comorbid anxiety symptoms and attentional deficits and also differed in adaptive behaviour and IQ. These results identify potentially important avenues for research in aggressive behaviour in ASD. En ligne : http://dx.doi.org/10.1007/s10803-019-04129-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=407

Gait deviations in children with autism spectrum disorders: a review / D. KINDREGAN in Autism Research and Treatment, 2015 (2015)  

Public ISBD [article]  inAutism Research and Treatment > 2015 (2015) Titre : Gait deviations in children with autism spectrum disorders: a review Type de document : Texte imprimé et/ou numérique Auteurs : D. KINDREGAN, Auteur ; L. GALLAGHER, Auteur ; J. GORMLEY, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : In recent years, it has become clear that children with autism spectrum disorders (ASDs) have difficulty with gross motor function and coordination, factors which influence gait. Knowledge of gait abnormalities may be useful for assessment and treatment planning. This paper reviews the literature assessing gait deviations in children with ASD. Five online databases were searched using keywords "gait" and "autism," and 11 studies were found which examined gait in childhood ASD. Children with ASD tend to augment their walking stability with a reduced stride length, increased step width and therefore wider base of support, and increased time in the stance phase. Children with ASD have reduced range of motion at the ankle and knee during gait, with increased hip flexion. Decreased peak hip flexor and ankle plantar flexor moments in children with ASD may imply weakness around these joints, which is further exhibited by a reduction in ground reaction forces at toe-off in children with ASD. Children with ASD have altered gait patterns to healthy controls, widened base of support, and reduced range of motion. Several studies refer to cerebellar and basal ganglia involvement as the patterns described suggest alterations in those areas of the brain. Further research should compare children with ASD to other clinical groups to improve assessment and treatment planning. En ligne : http://dx.doi.org/10.1155/2015/741480 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=332 [article] Gait deviations in children with autism spectrum disorders: a review [Texte imprimé et/ou numérique] / D. KINDREGAN, Auteur ; L. GALLAGHER, Auteur ; J. GORMLEY, Auteur. Langues : Anglais (eng) in Autism Research and Treatment > 2015 (2015) Index. décimale : PER Périodiques Résumé : In recent years, it has become clear that children with autism spectrum disorders (ASDs) have difficulty with gross motor function and coordination, factors which influence gait. Knowledge of gait abnormalities may be useful for assessment and treatment planning. This paper reviews the literature assessing gait deviations in children with ASD. Five online databases were searched using keywords "gait" and "autism," and 11 studies were found which examined gait in childhood ASD. Children with ASD tend to augment their walking stability with a reduced stride length, increased step width and therefore wider base of support, and increased time in the stance phase. Children with ASD have reduced range of motion at the ankle and knee during gait, with increased hip flexion. Decreased peak hip flexor and ankle plantar flexor moments in children with ASD may imply weakness around these joints, which is further exhibited by a reduction in ground reaction forces at toe-off in children with ASD. Children with ASD have altered gait patterns to healthy controls, widened base of support, and reduced range of motion. Several studies refer to cerebellar and basal ganglia involvement as the patterns described suggest alterations in those areas of the brain. Further research should compare children with ASD to other clinical groups to improve assessment and treatment planning. En ligne : http://dx.doi.org/10.1155/2015/741480 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=332

He said, she said: Autism spectrum diagnosis and gender differentially affect relationships between executive functions and social communication / B. CHOUINARD in Autism, 23-7 (October 2019)  

Public ISBD [article]  inAutism > 23-7 (October 2019) . - p.1793-1804 Titre : He said, she said: Autism spectrum diagnosis and gender differentially affect relationships between executive functions and social communication Type de document : Texte imprimé et/ou numérique Auteurs : B. CHOUINARD, Auteur ; L. GALLAGHER, Auteur ; C. KELLY, Auteur Article en page(s) : p.1793-1804 Langues : Anglais (eng) Mots-clés : autism  executive functions  metacognition  social communication  working memory Index. décimale : PER Périodiques Résumé : Autism spectrum disorder is characterized by difficulties with social communication, with a preponderance in males. Evidence supports a relationship between metacognitive executive functions (e.g. planning, working memory) and social communication in autism spectrum disorder, yet relationships with specific metacognitive executive functions and how gender alters the expression of these relationships require further study. We used multiple regression to examine relationships between informant-based measures of metacognitive executive function and social communication in intellectually able (IQ 85) female (n = 111; mean age = 10.2 +/- 2.8; 31 autism spectrum disorder) and male youth (n = 310; mean age = 10.5 +/- 1.9; 146 autism spectrum disorder) with and without autism spectrum disorder from the Autism Brain Imaging Data Exchange-II database. Executive function-social communication relationships were different in females and males with autism spectrum disorder. Relationships between the entire metacognitive index and social communication were stronger in males with autism spectrum disorder than without; this pattern was also observed for metacognitive sub-indices 'monitor' and 'working memory'. These patterns were not observed in females. Relationships between executive function and social communication appear different for female and male youth with an autism spectrum disorder diagnosis. To better understand the nature of metacognitive contributions to social communication in autism spectrum disorder, future work should investigate the co-development of monitoring, working memory and social communication, while taking gender into account. En ligne : http://dx.doi.org/10.1177/1362361318815639 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=406 [article] He said, she said: Autism spectrum diagnosis and gender differentially affect relationships between executive functions and social communication [Texte imprimé et/ou numérique] / B. CHOUINARD, Auteur ; L. GALLAGHER, Auteur ; C. KELLY, Auteur . - p.1793-1804. Langues : Anglais (eng) in Autism > 23-7 (October 2019) . - p.1793-1804 Mots-clés : autism  executive functions  metacognition  social communication  working memory Index. décimale : PER Périodiques Résumé : Autism spectrum disorder is characterized by difficulties with social communication, with a preponderance in males. Evidence supports a relationship between metacognitive executive functions (e.g. planning, working memory) and social communication in autism spectrum disorder, yet relationships with specific metacognitive executive functions and how gender alters the expression of these relationships require further study. We used multiple regression to examine relationships between informant-based measures of metacognitive executive function and social communication in intellectually able (IQ 85) female (n = 111; mean age = 10.2 +/- 2.8; 31 autism spectrum disorder) and male youth (n = 310; mean age = 10.5 +/- 1.9; 146 autism spectrum disorder) with and without autism spectrum disorder from the Autism Brain Imaging Data Exchange-II database. Executive function-social communication relationships were different in females and males with autism spectrum disorder. Relationships between the entire metacognitive index and social communication were stronger in males with autism spectrum disorder than without; this pattern was also observed for metacognitive sub-indices 'monitor' and 'working memory'. These patterns were not observed in females. Relationships between executive function and social communication appear different for female and male youth with an autism spectrum disorder diagnosis. To better understand the nature of metacognitive contributions to social communication in autism spectrum disorder, future work should investigate the co-development of monitoring, working memory and social communication, while taking gender into account. En ligne : http://dx.doi.org/10.1177/1362361318815639 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=406

Increased Ca(2+) signaling in NRXN1alpha (+/-) neurons derived from ASD induced pluripotent stem cells / S. AVAZZADEH in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 52 p. Titre : Increased Ca(2+) signaling in NRXN1alpha (+/-) neurons derived from ASD induced pluripotent stem cells Type de document : Texte imprimé et/ou numérique Auteurs : S. AVAZZADEH, Auteur ; K. MCDONAGH, Auteur ; J. REILLY, Auteur ; Y. WANG, Auteur ; S. D. BOOMKAMP, Auteur ; V. MCINERNEY, Auteur ; J. KRAWCZYK, Auteur ; J. FITZGERALD, Auteur ; N. FEERICK, Auteur ; M. O'SULLIVAN, Auteur ; A. JALALI, Auteur ; E. B. FORMAN, Auteur ; S. A. LYNCH, Auteur ; S. ENNIS, Auteur ; N. COSEMANS, Auteur ; H. PEETERS, Auteur ; P. DOCKERY, Auteur ; T. O'BRIEN, Auteur ; L. R. QUINLAN, Auteur ; L. GALLAGHER, Auteur ; S. SHEN, Auteur Article en page(s) : 52 p. Langues : Anglais (eng) Mots-clés : Autism  Calcium signaling  Induced pluripotent stem cells  NRXN1alpha  Neurons  Transcriptome Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion is among the commonest rare genetic factors shared by ASD, schizophrenia, intellectual disability, epilepsy, and developmental delay. However, how NRXN1 deletions lead to different clinical symptoms is unknown. Patient-derived cells are essential to investigate the functional consequences of NRXN1 lesions to human neurons in different diseases. Methods: Skin biopsies were donated by five healthy donors and three ASD patients carrying NRXN1alpha (+/-) deletions. Seven control and six NRXN1alpha (+/-) iPSC lines were derived and differentiated into day 100 cortical excitatory neurons using dual SMAD inhibition. Calcium (Ca(2+)) imaging was performed using Fluo4-AM, and the properties of Ca(2+) transients were compared between two groups of neurons. Transcriptome analysis was carried out to undercover molecular pathways associated with NRXN1alpha (+/-) neurons. Results: NRXN1alpha (+/-) neurons were found to display altered calcium dynamics, with significantly increased frequency, duration, and amplitude of Ca(2+) transients. Whole genome RNA sequencing also revealed altered ion transport and transporter activity, with upregulated voltage-gated calcium channels as one of the most significant pathways in NRXN1alpha (+/-) neurons identified by STRING and GSEA analyses. Conclusions: This is the first report to show that human NRXN1alpha (+/-) neurons derived from ASD patients' iPSCs present novel phenotypes of upregulated VGCCs and increased Ca(2+) transients, which may facilitate the development of drug screening assays for the treatment of ASD. En ligne : http://dx.doi.org/10.1186/s13229-019-0303-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Increased Ca(2+) signaling in NRXN1alpha (+/-) neurons derived from ASD induced pluripotent stem cells [Texte imprimé et/ou numérique] / S. AVAZZADEH, Auteur ; K. MCDONAGH, Auteur ; J. REILLY, Auteur ; Y. WANG, Auteur ; S. D. BOOMKAMP, Auteur ; V. MCINERNEY, Auteur ; J. KRAWCZYK, Auteur ; J. FITZGERALD, Auteur ; N. FEERICK, Auteur ; M. O'SULLIVAN, Auteur ; A. JALALI, Auteur ; E. B. FORMAN, Auteur ; S. A. LYNCH, Auteur ; S. ENNIS, Auteur ; N. COSEMANS, Auteur ; H. PEETERS, Auteur ; P. DOCKERY, Auteur ; T. O'BRIEN, Auteur ; L. R. QUINLAN, Auteur ; L. GALLAGHER, Auteur ; S. SHEN, Auteur . - 52 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 52 p. Mots-clés : Autism  Calcium signaling  Induced pluripotent stem cells  NRXN1alpha  Neurons  Transcriptome Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion is among the commonest rare genetic factors shared by ASD, schizophrenia, intellectual disability, epilepsy, and developmental delay. However, how NRXN1 deletions lead to different clinical symptoms is unknown. Patient-derived cells are essential to investigate the functional consequences of NRXN1 lesions to human neurons in different diseases. Methods: Skin biopsies were donated by five healthy donors and three ASD patients carrying NRXN1alpha (+/-) deletions. Seven control and six NRXN1alpha (+/-) iPSC lines were derived and differentiated into day 100 cortical excitatory neurons using dual SMAD inhibition. Calcium (Ca(2+)) imaging was performed using Fluo4-AM, and the properties of Ca(2+) transients were compared between two groups of neurons. Transcriptome analysis was carried out to undercover molecular pathways associated with NRXN1alpha (+/-) neurons. Results: NRXN1alpha (+/-) neurons were found to display altered calcium dynamics, with significantly increased frequency, duration, and amplitude of Ca(2+) transients. Whole genome RNA sequencing also revealed altered ion transport and transporter activity, with upregulated voltage-gated calcium channels as one of the most significant pathways in NRXN1alpha (+/-) neurons identified by STRING and GSEA analyses. Conclusions: This is the first report to show that human NRXN1alpha (+/-) neurons derived from ASD patients' iPSCs present novel phenotypes of upregulated VGCCs and increased Ca(2+) transients, which may facilitate the development of drug screening assays for the treatment of ASD. En ligne : http://dx.doi.org/10.1186/s13229-019-0303-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

Widespread Disrupted White Matter Microstructure in Autism Spectrum Disorders / J. FITZGERALD in Journal of Autism and Developmental Disorders, 49-7 (July 2019)  

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