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Autism Spectrum Disorders. Phenotypes, Mechanisms and Treatments Mention de date : 2015 Paru le : 17/12/2015 |
[n° ou bulletin]
[n° ou bulletin]
180 - 2015 - Autism Spectrum Disorders. Phenotypes, Mechanisms and Treatments [Texte imprimé et/ou numérique]. Langues : Anglais (eng)
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Exemplaires (1)
Code-barres | Cote | Support | Localisation | Section | Disponibilité |
---|---|---|---|---|---|
DOC0003615 | AUT-B LEB | Périodique | Centre d'Information et de Documentation du CRA Rhône-Alpes | AUT - L'Autisme | Disponible |
Dépouillements


From Autism to Autism Spectrum Disorders / Oriane MERCATI in Key Issues in Mental Health, 180 (2015)
[article]
inKey Issues in Mental Health > 180 (2015) . - p.1-4
Titre : From Autism to Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Oriane MERCATI, Auteur ; Pauline CHASTE, Auteur Article en page(s) : p.1-4 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] From Autism to Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Oriane MERCATI, Auteur ; Pauline CHASTE, Auteur . - p.1-4.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.1-4
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 Autism Spectrum Disorders and Coexisting Mental Health Problems / Ola STAHLBERG in Key Issues in Mental Health, 180 (2015)
[article]
inKey Issues in Mental Health > 180 (2015) . - p.5-19
Titre : Autism Spectrum Disorders and Coexisting Mental Health Problems Type de document : Texte imprimé et/ou numérique Auteurs : Ola STAHLBERG, Auteur ; Thomas NILSSON, Auteur ; Sebastian LUNDSTROM, Auteur ; Henrik ANCKARSATER, Auteur Article en page(s) : p.5-19 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : It is a rule rather than an exception that mental disorders occur in complex and manifold forms, and a number of models have been proposed to explain this co-occurrence or co-‘morbidity'. Autism spectrum disorders (ASD, i.e. autistic disorder, Asperger syndrome, and pervasive developmental disorder - not otherwise specified) are no exemption. Here, the literature on ASD co-occurring with developmental disorders (such as ADHD), learning disorders, and problems that typically arise during childhood (e.g. oppositional defiant disorder, conduct disorder), and adulthood (e.g. anxiety, affective/mood disorders, and psychotic disorders), will be reviewed. The patterns of mental disorders co-occurring with ASD could not be summarized into any consistent and easy-to-interpret model of co-morbidity. Thus, research on ASD should consider and not rule out coexisting mental conditions (and include persons with complex problems in studies), clinical assessments, and evaluations. Ignoring the complexity of co-occurring conditions will have detrimental effects in research, counteracting our understanding of the etiology behind ASD and the development of evidence-based, comprehensive treatment strategies. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] Autism Spectrum Disorders and Coexisting Mental Health Problems [Texte imprimé et/ou numérique] / Ola STAHLBERG, Auteur ; Thomas NILSSON, Auteur ; Sebastian LUNDSTROM, Auteur ; Henrik ANCKARSATER, Auteur . - p.5-19.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.5-19
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : It is a rule rather than an exception that mental disorders occur in complex and manifold forms, and a number of models have been proposed to explain this co-occurrence or co-‘morbidity'. Autism spectrum disorders (ASD, i.e. autistic disorder, Asperger syndrome, and pervasive developmental disorder - not otherwise specified) are no exemption. Here, the literature on ASD co-occurring with developmental disorders (such as ADHD), learning disorders, and problems that typically arise during childhood (e.g. oppositional defiant disorder, conduct disorder), and adulthood (e.g. anxiety, affective/mood disorders, and psychotic disorders), will be reviewed. The patterns of mental disorders co-occurring with ASD could not be summarized into any consistent and easy-to-interpret model of co-morbidity. Thus, research on ASD should consider and not rule out coexisting mental conditions (and include persons with complex problems in studies), clinical assessments, and evaluations. Ignoring the complexity of co-occurring conditions will have detrimental effects in research, counteracting our understanding of the etiology behind ASD and the development of evidence-based, comprehensive treatment strategies. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271
[article]
inKey Issues in Mental Health > 180 (2015) . - p.20-33
Titre : Autism and Medical Comorbidities Type de document : Texte imprimé et/ou numérique Auteurs : Manuel SCHIFF, Auteur ; Miya R. ASATO, Auteur Article en page(s) : p.20-33 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Individuals with autism spectrum disorders (ASD) are at an increased risk for medical comorbidities which often remain undetected and negatively impact their developmental progress. These include gastrointestinal disorders, oral health problems, sleep disorders, and epilepsy. Greater awareness and treatment of these comorbidities are essential to improve the quality of life and sometimes ASD symptoms. While inborn errors of metabolism should not typically be considered a comorbidity in ASD, they should not be neglected as a possible etiology of ASD in some very rare situations of syndromic autism with associated features. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] Autism and Medical Comorbidities [Texte imprimé et/ou numérique] / Manuel SCHIFF, Auteur ; Miya R. ASATO, Auteur . - p.20-33.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.20-33
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Individuals with autism spectrum disorders (ASD) are at an increased risk for medical comorbidities which often remain undetected and negatively impact their developmental progress. These include gastrointestinal disorders, oral health problems, sleep disorders, and epilepsy. Greater awareness and treatment of these comorbidities are essential to improve the quality of life and sometimes ASD symptoms. While inborn errors of metabolism should not typically be considered a comorbidity in ASD, they should not be neglected as a possible etiology of ASD in some very rare situations of syndromic autism with associated features. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 The Cognitive Profile in Autism Spectrum Disorders / William MANDY in Key Issues in Mental Health, 180 (2015)
[article]
inKey Issues in Mental Health > 180 (2015) . - p.34-45
Titre : The Cognitive Profile in Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : William MANDY, Auteur ; Marianna MURIN, Auteur ; David SKUSE, Auteur Article en page(s) : p.34-45 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Is there an autism spectrum disorder (ASD) cognitive profile, i.e. a consistent, disorder-specific pattern of cognitive peaks and troughs found in a substantial proportion of people with ASD? Almost all research into ASD cognition is not designed to answer this question, as studies tend to focus on specific aspects of cognition without providing a broad picture across multiple cognitive domains and because results are reported as group trends without sufficient attention to individual patterns of performance. Thus, it is not currently known whether there is an ASD cognitive profile. To fill this gap in the literature, there is a need for multiple single-case study designs, which investigate individual patterns of relative peaks and troughs across diverse cognitive tests for multiple participants. We illustrate this approach using data from the 10 subtests of the Wechsler Intelligence Scale for Children - fourth edition (WISC-IV), in a sample of 104 young people with an ASD. Initial group level analyses suggested that, on average, people with ASD have relative strengths in WISC-IV tasks requiring non-timed abstract reasoning and relative weaknesses in processing speed and comprehension. However, these group level findings did not consistently apply to individual participants: only 1 person in the sample of 104 had an individual profile that reflected the group level pattern of strengths and weaknesses. Nevertheless, non-specific variability was common, with 76% of the sample showing significant peaks and troughs in performance on the WISC-IV subtests, raising the possibility that a key characteristic of ASD is unpredictable cognitive heterogeneity, characterized by relative strengths as well as difficulties. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] The Cognitive Profile in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / William MANDY, Auteur ; Marianna MURIN, Auteur ; David SKUSE, Auteur . - p.34-45.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.34-45
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Is there an autism spectrum disorder (ASD) cognitive profile, i.e. a consistent, disorder-specific pattern of cognitive peaks and troughs found in a substantial proportion of people with ASD? Almost all research into ASD cognition is not designed to answer this question, as studies tend to focus on specific aspects of cognition without providing a broad picture across multiple cognitive domains and because results are reported as group trends without sufficient attention to individual patterns of performance. Thus, it is not currently known whether there is an ASD cognitive profile. To fill this gap in the literature, there is a need for multiple single-case study designs, which investigate individual patterns of relative peaks and troughs across diverse cognitive tests for multiple participants. We illustrate this approach using data from the 10 subtests of the Wechsler Intelligence Scale for Children - fourth edition (WISC-IV), in a sample of 104 young people with an ASD. Initial group level analyses suggested that, on average, people with ASD have relative strengths in WISC-IV tasks requiring non-timed abstract reasoning and relative weaknesses in processing speed and comprehension. However, these group level findings did not consistently apply to individual participants: only 1 person in the sample of 104 had an individual profile that reflected the group level pattern of strengths and weaknesses. Nevertheless, non-specific variability was common, with 76% of the sample showing significant peaks and troughs in performance on the WISC-IV subtests, raising the possibility that a key characteristic of ASD is unpredictable cognitive heterogeneity, characterized by relative strengths as well as difficulties. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271
[article]
inKey Issues in Mental Health > 180 (2015) . - p.46-53
Titre : Social Functioning in Autism Type de document : Texte imprimé et/ou numérique Auteurs : Nadia MERHOUM, Auteur ; Flavia MENGARELLI, Auteur ; Raphaelle MOTTOLESE, Auteur ; Elissar ANDARI, Auteur ; Angela SIRIGU, Auteur Article en page(s) : p.46-53 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Autism spectrum disorder (ASD) includes a family of neurodevelopmental disorders with very early onset that affect many aspects of behavior and cognition. In particular, it refers to a set of deficiencies concerning three major domains: social functioning, communication, and stereotyped behavior. Given the importance of the ability to interact with others in daily life, social functioning impairment in ASD has received much attention from different research domains and is considered a core characteristic of this pathology. Understanding how autism affects social functioning development at both behavioral and neural level is crucial for the conception of effective and early interventions to improve social and communicative skills in individuals suffering from this pathology. In this chapter we will focus on the several and different aspects of social functioning impairments in ASD by reviewing the literature on this topic. We will then discuss the important role of the natural hormone oxytocin in social behavior and its therapeutic potential for autism. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] Social Functioning in Autism [Texte imprimé et/ou numérique] / Nadia MERHOUM, Auteur ; Flavia MENGARELLI, Auteur ; Raphaelle MOTTOLESE, Auteur ; Elissar ANDARI, Auteur ; Angela SIRIGU, Auteur . - p.46-53.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.46-53
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Autism spectrum disorder (ASD) includes a family of neurodevelopmental disorders with very early onset that affect many aspects of behavior and cognition. In particular, it refers to a set of deficiencies concerning three major domains: social functioning, communication, and stereotyped behavior. Given the importance of the ability to interact with others in daily life, social functioning impairment in ASD has received much attention from different research domains and is considered a core characteristic of this pathology. Understanding how autism affects social functioning development at both behavioral and neural level is crucial for the conception of effective and early interventions to improve social and communicative skills in individuals suffering from this pathology. In this chapter we will focus on the several and different aspects of social functioning impairments in ASD by reviewing the literature on this topic. We will then discuss the important role of the natural hormone oxytocin in social behavior and its therapeutic potential for autism. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271
[article]
inKey Issues in Mental Health > 180 (2015) . - p.54-67
Titre : Sensory Processing in Autism Type de document : Texte imprimé et/ou numérique Auteurs : Marlene BEHRMANN, Auteur ; Nancy MINSHEW, Auteur Article en page(s) : p.54-67 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Although sensory hypersensitivity is not one of the triad of core symptoms in autism, changes in sensory responses are a well-known and sometimes even debilitating aspect of the disorder. Here, we review current studies that document the first-person experience of individuals with autism, and we document the findings of more experimental, psychophysical studies. We note that the sensory symptoms have widespread associations with emotional and social aspects of function and even with digestive symptoms. We present data from a recent study which explored the neural responses in the primary visual and auditory cortex and in the somatosensory cortex and revealed the inconsistency and increased noise in the neural profile of these regions in individuals with autism compared to control counterparts. Over the course of this chapter, we raise many more questions than answers and these concern the etiology and origin of these sensory changes as well as the impact of these sensory hypersensitivities on other aspects of cognitive and social function. We end by recognizing the urgent need for studies that assess and evaluate potential methods of intervention, and we note that a comprehensive meta-analysis of this domain is well overdue. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] Sensory Processing in Autism [Texte imprimé et/ou numérique] / Marlene BEHRMANN, Auteur ; Nancy MINSHEW, Auteur . - p.54-67.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.54-67
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Although sensory hypersensitivity is not one of the triad of core symptoms in autism, changes in sensory responses are a well-known and sometimes even debilitating aspect of the disorder. Here, we review current studies that document the first-person experience of individuals with autism, and we document the findings of more experimental, psychophysical studies. We note that the sensory symptoms have widespread associations with emotional and social aspects of function and even with digestive symptoms. We present data from a recent study which explored the neural responses in the primary visual and auditory cortex and in the somatosensory cortex and revealed the inconsistency and increased noise in the neural profile of these regions in individuals with autism compared to control counterparts. Over the course of this chapter, we raise many more questions than answers and these concern the etiology and origin of these sensory changes as well as the impact of these sensory hypersensitivities on other aspects of cognitive and social function. We end by recognizing the urgent need for studies that assess and evaluate potential methods of intervention, and we note that a comprehensive meta-analysis of this domain is well overdue. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 On the Neuroimaging of Autism in the Context of Human Brain Diversity / Josselin HOUENOU in Key Issues in Mental Health, 180 (2015)
[article]
inKey Issues in Mental Health > 180 (2015) . - p.68-79
Titre : On the Neuroimaging of Autism in the Context of Human Brain Diversity Type de document : Texte imprimé et/ou numérique Auteurs : Josselin HOUENOU, Auteur ; Pauline CHASTE, Auteur Article en page(s) : p.68-79 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Numerous neuroimaging studies of autism spectrum disorders (ASD) have been conducted. Although many of the results of these studies do not overlap, some evidence has accumulated in support of the existence of some atypical brain morphology and function patterns. Indeed, studies have consistently reported structural abnormalities in the prefronto-striatal networks. Functional neuroimaging studies during social tasks have revealed altered patterns of activation in the fusiform gyrus and the superior temporal sulcus, two regions implicated in face recognition and social processing. Moreover, hypoactivation of the bilateral superior temporal gyri during language processing has also consistently been reported. Brain growth patterns are less clear. However, several studies have shown an atypical pattern, with overgrowth from birth to early infancy followed by a slower rate of growth compared to typically developing children and adults. Lastly, recent neuroimaging techniques such as diffusion tensor imaging and functional MRI connectivity measures have revealed long-range underconnectivity in ASD. Autism has thus been recently conceptualized as a brain connectivity disorder. This approach allows a better understanding of the failure of social and communication abilities in ASD. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] On the Neuroimaging of Autism in the Context of Human Brain Diversity [Texte imprimé et/ou numérique] / Josselin HOUENOU, Auteur ; Pauline CHASTE, Auteur . - p.68-79.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.68-79
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Numerous neuroimaging studies of autism spectrum disorders (ASD) have been conducted. Although many of the results of these studies do not overlap, some evidence has accumulated in support of the existence of some atypical brain morphology and function patterns. Indeed, studies have consistently reported structural abnormalities in the prefronto-striatal networks. Functional neuroimaging studies during social tasks have revealed altered patterns of activation in the fusiform gyrus and the superior temporal sulcus, two regions implicated in face recognition and social processing. Moreover, hypoactivation of the bilateral superior temporal gyri during language processing has also consistently been reported. Brain growth patterns are less clear. However, several studies have shown an atypical pattern, with overgrowth from birth to early infancy followed by a slower rate of growth compared to typically developing children and adults. Lastly, recent neuroimaging techniques such as diffusion tensor imaging and functional MRI connectivity measures have revealed long-range underconnectivity in ASD. Autism has thus been recently conceptualized as a brain connectivity disorder. This approach allows a better understanding of the failure of social and communication abilities in ASD. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 Architecture of the Genetic Risk for Autism / Pauline CHASTE in Key Issues in Mental Health, 180 (2015)
[article]
inKey Issues in Mental Health > 180 (2015) . - p.80-96
Titre : Architecture of the Genetic Risk for Autism Type de document : Texte imprimé et/ou numérique Auteurs : Pauline CHASTE, Auteur ; Bernie DEVLIN, Auteur Article en page(s) : p.80-96 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : The past decade of investigation into the genetics of autism, marked by the identification of the first rare mutations in nonsyndromic autism and the development of genome-wide genotyping and sequencing techniques, has resulted in remarkable advances in our understanding of the genetic architecture of the risk for autism spectrum disorders (ASD). Indeed, from a population genetics perspective, it can be argued that an accurate synopsis of the genetic architecture of ASD is already in hand. Integrating all of the evidence, there can be no doubt that both rare and common variations play a role in the inherited risk for ASD. The picture of genetic risk that has emerged based on recent results is much more complex than many had imagined, and in many ways it looks like the polygenic model first proposed. Nevertheless, there seems to be some convergence on a limited number of cellular processes, which bodes well for the development of new treatments. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] Architecture of the Genetic Risk for Autism [Texte imprimé et/ou numérique] / Pauline CHASTE, Auteur ; Bernie DEVLIN, Auteur . - p.80-96.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.80-96
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : The past decade of investigation into the genetics of autism, marked by the identification of the first rare mutations in nonsyndromic autism and the development of genome-wide genotyping and sequencing techniques, has resulted in remarkable advances in our understanding of the genetic architecture of the risk for autism spectrum disorders (ASD). Indeed, from a population genetics perspective, it can be argued that an accurate synopsis of the genetic architecture of ASD is already in hand. Integrating all of the evidence, there can be no doubt that both rare and common variations play a role in the inherited risk for ASD. The picture of genetic risk that has emerged based on recent results is much more complex than many had imagined, and in many ways it looks like the polygenic model first proposed. Nevertheless, there seems to be some convergence on a limited number of cellular processes, which bodes well for the development of new treatments. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 Molecular Pathways in Autistic Spectrum Disorders / Louise GALLAGHER in Key Issues in Mental Health, 180 (2015)
[article]
inKey Issues in Mental Health > 180 (2015) . - p.97-112
Titre : Molecular Pathways in Autistic Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Louise GALLAGHER, Auteur ; Sanbing SHEN, Auteur ; Ric ANNEY, Auteur Article en page(s) : p.97-112 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Major advances in neuroscience have highlighted previously elusive molecular pathways for autistic spectrum disorders (ASD) which are essential to the identification of molecular targets for drug discovery. The evidence of the heritability of ASD is now well established, and the last decade brought an exponential rate of discovery in ASD genetics. In particular rare chromosomal structural rearrangements and rare sequence variants have been implicated, with common genetic variation conferring a modest risk. Rare genetic mutations of major effect offer direct targets for the study of underlying molecular mechanisms. Systems biology approaches such as data mining of large genetic data sets in ASD are also used to identify related functional pathways. A greater understanding of the neural mechanisms underpinning ASD is required to determine disrupted developmental processes and how and when pharmacological and behavioural interventions are best initiated. Identification of the disease mechanisms associated with monogenetic neurodevelopmental disorders such as Rett syndrome and fragile X syndrome have led to new molecular targets and potential treatments which have provided optimism for researchers and the ASD community. Taken together, rare and common genetic variations in ASD implicate critical pathways involving chromatin remodelling, synaptogenesis, synapse specialization and intracellular signalling mechanisms. The following chapter will synthesize evidence from a range of sources to illustrate the molecular pathways that appear to be most implicated in ASD, providing potential targets for new drug exploitation. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] Molecular Pathways in Autistic Spectrum Disorders [Texte imprimé et/ou numérique] / Louise GALLAGHER, Auteur ; Sanbing SHEN, Auteur ; Ric ANNEY, Auteur . - p.97-112.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.97-112
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Major advances in neuroscience have highlighted previously elusive molecular pathways for autistic spectrum disorders (ASD) which are essential to the identification of molecular targets for drug discovery. The evidence of the heritability of ASD is now well established, and the last decade brought an exponential rate of discovery in ASD genetics. In particular rare chromosomal structural rearrangements and rare sequence variants have been implicated, with common genetic variation conferring a modest risk. Rare genetic mutations of major effect offer direct targets for the study of underlying molecular mechanisms. Systems biology approaches such as data mining of large genetic data sets in ASD are also used to identify related functional pathways. A greater understanding of the neural mechanisms underpinning ASD is required to determine disrupted developmental processes and how and when pharmacological and behavioural interventions are best initiated. Identification of the disease mechanisms associated with monogenetic neurodevelopmental disorders such as Rett syndrome and fragile X syndrome have led to new molecular targets and potential treatments which have provided optimism for researchers and the ASD community. Taken together, rare and common genetic variations in ASD implicate critical pathways involving chromatin remodelling, synaptogenesis, synapse specialization and intracellular signalling mechanisms. The following chapter will synthesize evidence from a range of sources to illustrate the molecular pathways that appear to be most implicated in ASD, providing potential targets for new drug exploitation. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 Environmental Factors and Autism Spectrum Disorder / Antonio M. PERSICO in Key Issues in Mental Health, 180 (2015)
[article]
inKey Issues in Mental Health > 180 (2015) . - p.113-134
Titre : Environmental Factors and Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Antonio M. PERSICO, Auteur ; Sara MERELLI, Auteur Article en page(s) : p.113-134 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Multiple observations indicate that environmental and epigenetic factors play an important role in the emergence of autism spectrum disorders (ASD). Growing ASD incidence rates, the incomplete penetrance of many rare variants linked to autism, and increased exposure to environmental contaminants all strongly support the role of gene × environment interactions in a substantial fraction of autistic patients. Within this framework, genetically susceptible individuals exposed to detrimental environmental factors at critical times during neurodevelopment might undergo disrupted brain morphogenesis, neuronal connectivity, and synaptic functioning consequently yielding ASD. Several teratogenic drugs and prenatal viral infections are able to cause autism in humans, as supported by case reports, cohort studies, and animal models. Moreover, recent studies have shown that some newly identified potential neurotoxicants may negatively affect developmental trajectories, leading to altered cognitive, attentive, behavioral, and motor performances, as well as to systemic abnormalities frequently seen in autistic individuals. A variety of mechanisms are potentially involved, ranging from oxidative and inflammatory brain damage to altered gene expression and impaired signal transduction. More research is needed to thoroughly investigate the effects of these compounds on neurodevelopment, to validate their involvement specifically in ASD, to study gene × environment interactions in potentially susceptible individuals, and to plan targeted prevention strategies. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] Environmental Factors and Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Antonio M. PERSICO, Auteur ; Sara MERELLI, Auteur . - p.113-134.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.113-134
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : Multiple observations indicate that environmental and epigenetic factors play an important role in the emergence of autism spectrum disorders (ASD). Growing ASD incidence rates, the incomplete penetrance of many rare variants linked to autism, and increased exposure to environmental contaminants all strongly support the role of gene × environment interactions in a substantial fraction of autistic patients. Within this framework, genetically susceptible individuals exposed to detrimental environmental factors at critical times during neurodevelopment might undergo disrupted brain morphogenesis, neuronal connectivity, and synaptic functioning consequently yielding ASD. Several teratogenic drugs and prenatal viral infections are able to cause autism in humans, as supported by case reports, cohort studies, and animal models. Moreover, recent studies have shown that some newly identified potential neurotoxicants may negatively affect developmental trajectories, leading to altered cognitive, attentive, behavioral, and motor performances, as well as to systemic abnormalities frequently seen in autistic individuals. A variety of mechanisms are potentially involved, ranging from oxidative and inflammatory brain damage to altered gene expression and impaired signal transduction. More research is needed to thoroughly investigate the effects of these compounds on neurodevelopment, to validate their involvement specifically in ASD, to study gene × environment interactions in potentially susceptible individuals, and to plan targeted prevention strategies. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 Early Signs and Early Intervention / Christine M. FREITAG in Key Issues in Mental Health, 180 (2015)
[article]
inKey Issues in Mental Health > 180 (2015) . - p.135-150
Titre : Early Signs and Early Intervention Type de document : Texte imprimé et/ou numérique Auteurs : Christine M. FREITAG, Auteur Article en page(s) : p.135-150 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : As autism spectrum disorders (ASD) are pervasive developmental disorders with onset early in life, attempts have made to diagnose ASD as early as possible. The available screening instruments for young children in the second year of life (aged 12 or 18 months) do not show a clinically acceptable sensitivity and specificity. New diagnostic algorithms for the Autism Diagnostic Interview-Revised (ADI-R) with toddler-specific items show a better sensitivity and specificity than the common ADI-R algorithms. In addition, the ADOS toddler module is a promising direct observation tool with good validity, but intensive training is required to reliably score the items within and across clinical and research groups. Several studies on early intervention have been published, but many of them have not been blinded to the kind of intervention and have not implemented a randomized controlled design. US-based randomized controlled studies on intensive early behavioral intervention, based either on applied behavior analysis or on a more developmentally oriented approach, have shown medium to large effects with regard to cognitive and language abilities as well as adaptive behavior. No such studies have as yet been performed in Europe. In addition, comparative cost-effectiveness studies have rarely been conducted. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] Early Signs and Early Intervention [Texte imprimé et/ou numérique] / Christine M. FREITAG, Auteur . - p.135-150.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.135-150
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : As autism spectrum disorders (ASD) are pervasive developmental disorders with onset early in life, attempts have made to diagnose ASD as early as possible. The available screening instruments for young children in the second year of life (aged 12 or 18 months) do not show a clinically acceptable sensitivity and specificity. New diagnostic algorithms for the Autism Diagnostic Interview-Revised (ADI-R) with toddler-specific items show a better sensitivity and specificity than the common ADI-R algorithms. In addition, the ADOS toddler module is a promising direct observation tool with good validity, but intensive training is required to reliably score the items within and across clinical and research groups. Several studies on early intervention have been published, but many of them have not been blinded to the kind of intervention and have not implemented a randomized controlled design. US-based randomized controlled studies on intensive early behavioral intervention, based either on applied behavior analysis or on a more developmentally oriented approach, have shown medium to large effects with regard to cognitive and language abilities as well as adaptive behavior. No such studies have as yet been performed in Europe. In addition, comparative cost-effectiveness studies have rarely been conducted. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271
[article]
inKey Issues in Mental Health > 180 (2015) . - p.151-165
Titre : Psychotropic Treatment of Autism Type de document : Texte imprimé et/ou numérique Auteurs : Stephano PALLANTI, Auteur ; Lorenza BENCINI, Auteur ; Andrea CANTISANI, Auteur ; Eric HOLLANDER, Auteur Article en page(s) : p.151-165 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : The therapy for autism and other pervasive developmental disorders is based on a multimodal intervention that includes not only pharmacological approaches but also nonmedical treatments such as rehabilitative, behavioral, and educational interventions. This approach requires a multidisciplinary team composed of medical physicians (psychiatrists or developmental neurologists), psychologists, different types of therapists (occupational, language, physical, and many other therapists), and, of course, the parents. The present chapter will review the existing pharmacological treatments, focusing on the most prescribed psychotropic medications in children and adolescents with autism spectrum disorders, such as antipsychotics, anxiolytics, antidepressants, and psychostimulants, and clarifying the use of less traditional ones. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271 [article] Psychotropic Treatment of Autism [Texte imprimé et/ou numérique] / Stephano PALLANTI, Auteur ; Lorenza BENCINI, Auteur ; Andrea CANTISANI, Auteur ; Eric HOLLANDER, Auteur . - p.151-165.
Langues : Anglais (eng)
in Key Issues in Mental Health > 180 (2015) . - p.151-165
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : The therapy for autism and other pervasive developmental disorders is based on a multimodal intervention that includes not only pharmacological approaches but also nonmedical treatments such as rehabilitative, behavioral, and educational interventions. This approach requires a multidisciplinary team composed of medical physicians (psychiatrists or developmental neurologists), psychologists, different types of therapists (occupational, language, physical, and many other therapists), and, of course, the parents. The present chapter will review the existing pharmacological treatments, focusing on the most prescribed psychotropic medications in children and adolescents with autism spectrum disorders, such as antipsychotics, anxiolytics, antidepressants, and psychostimulants, and clarifying the use of less traditional ones. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=271