Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD / Danijela DRAKULIC in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 42 p. Titre : Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD Type de document : Texte imprimé et/ou numérique Auteurs : Danijela DRAKULIC, Auteur ; Srdjan DJUROVIC, Auteur ; Yasir Ahmed SYED, Auteur ; Sebastiano TRATTARO, Auteur ; Nicolò CAPORALE, Auteur ; Anna FALK, Auteur ; Rivka OFIR, Auteur ; Vivi M. HEINE, Auteur ; Samuel J. R. A. CHAWNER, Auteur ; Antonio RODRIGUEZ-MORENO, Auteur ; Marianne B. M. VAN DEN BREE, Auteur ; Giuseppe TESTA, Auteur ; Spyros PETRAKIS, Auteur ; Adrian J. HARWOOD, Auteur Article en page(s) : 42 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorders (ASD)  Copy number variants (CNVs)  Human iPSCs  Neurodevelopmental disorders (NDD) Index. décimale : PER Périodiques Résumé : Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders (NDD), including those falling within the autism spectrum disorders (ASD). A key question is whether this correlation between genetics and clinical presentation at the level of the patient can be translated to the cell phenotypes arising from the neurodevelopment of patient induced pluripotent stem cells (iPSCs).Here, we examine how iPSCs derived from ASD patients with an associated CNV inform our understanding of the genetic and biological mechanisms underlying the aetiology of ASD. We consider selection of genetically characterised patient iPSCs; use of appropriate control lines; aspects of human neurocellular biology that can capture in vitro the patient clinical phenotype; and current limitations of patient iPSC-based studies. Finally, we consider how future research may be enhanced to maximise the utility of CNV patients for research of pathological mechanisms or therapeutic targets. En ligne : http://dx.doi.org/10.1186/s13229-020-00343-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 [article] Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD [Texte imprimé et/ou numérique] / Danijela DRAKULIC, Auteur ; Srdjan DJUROVIC, Auteur ; Yasir Ahmed SYED, Auteur ; Sebastiano TRATTARO, Auteur ; Nicolò CAPORALE, Auteur ; Anna FALK, Auteur ; Rivka OFIR, Auteur ; Vivi M. HEINE, Auteur ; Samuel J. R. A. CHAWNER, Auteur ; Antonio RODRIGUEZ-MORENO, Auteur ; Marianne B. M. VAN DEN BREE, Auteur ; Giuseppe TESTA, Auteur ; Spyros PETRAKIS, Auteur ; Adrian J. HARWOOD, Auteur . - 42 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 42 p. Mots-clés : Autism spectrum disorders (ASD)  Copy number variants (CNVs)  Human iPSCs  Neurodevelopmental disorders (NDD) Index. décimale : PER Périodiques Résumé : Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders (NDD), including those falling within the autism spectrum disorders (ASD). A key question is whether this correlation between genetics and clinical presentation at the level of the patient can be translated to the cell phenotypes arising from the neurodevelopment of patient induced pluripotent stem cells (iPSCs).Here, we examine how iPSCs derived from ASD patients with an associated CNV inform our understanding of the genetic and biological mechanisms underlying the aetiology of ASD. We consider selection of genetically characterised patient iPSCs; use of appropriate control lines; aspects of human neurocellular biology that can capture in vitro the patient clinical phenotype; and current limitations of patient iPSC-based studies. Finally, we consider how future research may be enhanced to maximise the utility of CNV patients for research of pathological mechanisms or therapeutic targets. En ligne : http://dx.doi.org/10.1186/s13229-020-00343-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427

The utilization of psychopharmacological treatments for individuals with autism spectrum disorder (ASD) in a middle-income European country / Anirban CHATTERJEE ; Yasir Ahmed SYED ; Vladimir TRAJKOVSKI in Research in Autism Spectrum Disorders, 111 (March 2024)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 111 (March 2024) . - p.102329 Titre : The utilization of psychopharmacological treatments for individuals with autism spectrum disorder (ASD) in a middle-income European country Type de document : Texte imprimé et/ou numérique Auteurs : Anirban CHATTERJEE, Auteur ; Yasir Ahmed SYED, Auteur ; Vladimir TRAJKOVSKI, Auteur Article en page(s) : p.102329 Mots-clés : Autism spectrum disorder  Psychopharmacological treatment  Psychotropic medication  Low- and middle-income country  Europe Index. décimale : PER Périodiques Résumé : Background Studies examining the utilization of psychopharmacological treatments (psychotropic medications) for autism spectrum disorder (ASD) have primarily been carried out in affluent nations. Nonetheless, there is an evident dearth of data originating from low- and middle-income countries. Our study sought to comprehensively evaluate the usage of psychopharmacological treatments and the effectiveness of those treatments as perceived by the parents of individuals with autism spectrum disorder (ASD) in Macedonia, a middle-income country in South-Eastern Europe. Methods We conducted a survey involving 103 parents of individuals with ASD and analyzed the questionnaire responses using descriptive statistics and non-parametric tests. Results Our research uncovered that 62% of individuals diagnosed with ASD were prescribed psychopharmacological treatments, yet only 48% actually utilized them. Among the medications prescribed, antipsychotics (55%) and antiepileptics (44%) were the most common, with risperidone and valproate being the preferred options. Psychopharmacological treatments were found to be more commonly used among individuals aged 15 years and above, with children under 8 years closely following suit at a rate of 56%. Furthermore, we discovered a noteworthy association between the severity of ASD symptoms and the utilization of these interventions. Intriguingly, the majority of parents (73%) regarded the effectiveness of psychopharmacological treatments as only partially effective. Conclusion Our study emphasizes the prevalent utilization of psychotropic medication, especially among young individuals, and underscores the necessity for enhanced dissemination of information to parents regarding prescribed medications. By integrating our research findings, medical professionals and policymakers can enhance the strategies and initiatives used to improve the quality of care and support for individuals on the autism spectrum. En ligne : https://doi.org/10.1016/j.rasd.2024.102329 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=521 [article] The utilization of psychopharmacological treatments for individuals with autism spectrum disorder (ASD) in a middle-income European country [Texte imprimé et/ou numérique] / Anirban CHATTERJEE, Auteur ; Yasir Ahmed SYED, Auteur ; Vladimir TRAJKOVSKI, Auteur . - p.102329. in Research in Autism Spectrum Disorders > 111 (March 2024) . - p.102329 Mots-clés : Autism spectrum disorder  Psychopharmacological treatment  Psychotropic medication  Low- and middle-income country  Europe Index. décimale : PER Périodiques Résumé : Background Studies examining the utilization of psychopharmacological treatments (psychotropic medications) for autism spectrum disorder (ASD) have primarily been carried out in affluent nations. Nonetheless, there is an evident dearth of data originating from low- and middle-income countries. Our study sought to comprehensively evaluate the usage of psychopharmacological treatments and the effectiveness of those treatments as perceived by the parents of individuals with autism spectrum disorder (ASD) in Macedonia, a middle-income country in South-Eastern Europe. Methods We conducted a survey involving 103 parents of individuals with ASD and analyzed the questionnaire responses using descriptive statistics and non-parametric tests. Results Our research uncovered that 62% of individuals diagnosed with ASD were prescribed psychopharmacological treatments, yet only 48% actually utilized them. Among the medications prescribed, antipsychotics (55%) and antiepileptics (44%) were the most common, with risperidone and valproate being the preferred options. Psychopharmacological treatments were found to be more commonly used among individuals aged 15 years and above, with children under 8 years closely following suit at a rate of 56%. Furthermore, we discovered a noteworthy association between the severity of ASD symptoms and the utilization of these interventions. Intriguingly, the majority of parents (73%) regarded the effectiveness of psychopharmacological treatments as only partially effective. Conclusion Our study emphasizes the prevalent utilization of psychotropic medication, especially among young individuals, and underscores the necessity for enhanced dissemination of information to parents regarding prescribed medications. By integrating our research findings, medical professionals and policymakers can enhance the strategies and initiatives used to improve the quality of care and support for individuals on the autism spectrum. En ligne : https://doi.org/10.1016/j.rasd.2024.102329 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=521

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