Autism Spectrum Disorders From Genotypes To Phenotypes
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| Author | : Valsamma Eapen |
| Publisher | : Frontiers Media SA |
| Total Pages | : 95 |
| Release | : 2015-12-10 |
| Genre | : Autism |
| ISBN | : 2889196801 |
This Research Topic covers the pathogenetic processes in Autism Spectrum Disorder (ASD) that underpin the translation of genetic vulnerability to clinically significant symptoms. Available research data in ASD suggests that it is a neural connectivity disorder and that the social communication and related neurobehavioural symptoms result from reduced synchronization between key "social brain" regions. These interconnected neural systems can be understood through the relationship between functionally relevant anatomic areas and neurochemical pathways, the programming of which are genetically modulated during neurodevelopment and mediated through a range of epigenetic and environmental modulators. Elucidating the underlying molecular mechanisms can provide an invaluable window for understanding the neural wiring that regulates higher brain functions and consequent clinical phenotypes. In keeping with the multi modal and diverse origins of ASD, this Research Topic explores the genetic underpinnings and environmental modulation in the aetiology; neural substrates, biomarkers and endophenotypes that underlie clinical characteristics; as well as neurochemical pathways and pathophysiological mechanisms that pave the way for therapeutic interventions. Furthermore, since genetically mediated deficits and consequent functional impairments involve activity-dependent synapse development that depends on postnatal learning and experience, the trajectory towards the final clinical expression could be modulated by early interventions that exploit the neuronal maturation and brain plasticity. However, identifying these diverse pathogenetic processes and tailoring interventions would require subtyping ASD into homogeneous subgroups. In this regard, this topic covers the current state of evidence in the literature through topic reviews as well as ongoing original work that provides tangible hypotheses and directions for future research.
| Author | : M. Créteil |
| Publisher | : Karger Medical and Scientific Publishers |
| Total Pages | : 178 |
| Release | : 2015-02-11 |
| Genre | : Medical |
| ISBN | : 3318026026 |
Accurate and exhaustive, this book provides a wide overview of the current knowledge on phenotypes, mechanisms and treatment of autism spectrum disorders. It covers topics on diagnostic issues, comorbid conditions and therapeutic strategies along with a detailed discussion on the actual understanding of the pathophysiology of autism disorders. More specifically, this book reviews in detail the current knowledge on the comorbidity between mental and medical disorders, describes abnormal cognitive and social development and gives a thorough overview on genetic as well as brain imaging abnormalities observed in autism spectrum disorders. In addition, the current literature on environmental risk factors which may provide an explanation for the increased prevalence of autism is being described. The last chapter gives an extensive review of early detection and early therapeutic interventions encompassing psycho-social and pharmacological strategies. Each chapter is easy to read and gives the reader access to the most important information on each topic covered. This book provides innovative reading material for medical students, psychologists, researchers and clinicians who need accurate information on the best available diagnostic and therapeutic strategies as well as on up-to-date research data.
| Author | : Stephen Deutsch |
| Publisher | : BoD – Books on Demand |
| Total Pages | : 214 |
| Release | : 2011-08-01 |
| Genre | : Science |
| ISBN | : 9533074957 |
Estimated prevalence rates of autism spectrum disorders (ASDs) have increased at an alarming rate over the past decade; current estimates stand as high as 1 in 110 persons in the population with a higher ratio of affected males to females. In addition to their emotional impact on the affected persons and their family members (in fact, the latter are often unrecognized unaffected “patients” themselves), the economic and social impacts of ASDs on society are staggering. Persons with ASDs will need interdisciplinary approaches to complex treatment and life planning, including, but not limited to, special education, speech and language therapy, vocational skills training and rehabilitation, social skills training and cognitive remediation, in addition to pharmacotherapy. The current book highlights some of the recent research on nosology, etiology, and pathophysiology. Additionally, the book touches on the implications of new research for treatment and genetic counseling. Importantly, because the field is advancing rapidly, no book can be considered the final word or finished product; thus, the availability of open access rapid publication is a mechanism that will help to assure that readers remain current and up-to-date.
| Author | : Vinood B. Patel |
| Publisher | : Springer |
| Total Pages | : 0 |
| Release | : 2013-10-15 |
| Genre | : Psychology |
| ISBN | : 9781461447870 |
Autism is a complex multifaceted disorder affecting neurodevelopment during the early years of life and, for many, throughout the life span. Inherent features include difficulties or deficits in communication, social interaction, cognition, and interpersonal behavioral coordination, to name just a few. Autism profoundly impacts the affected individual, the family, and, in many cases, the localized communities. The increased prevalence of childhood autism has resulted in rapid developments in a wide range of disciplines in recent years. Nevertheless, despite intensive research, the cause(s) remain unresolved and no single treatment strategy is employed. To address these issues, Comprehensive Guide to Autism is an all-embracing reference that offers analyses and discussions of contemporary issues in the field of autism. The work brings together scientific material from leading experts in the field relating to a wide range of important current topics, such as the early identification and treatment of children with autism, pertinent social and behavioral studies, recent developments in genetics and immunology, the influence of diet, models of autism, and future treatment prospects. Comprehensive Guide to Autism contains essential readings for behavioral science researchers, psychologists, physicians, social workers, parents, and caregivers.
| Author | : Anthony F. Rotatori |
| Publisher | : Emerald Group Publishing |
| Total Pages | : 142 |
| Release | : 2015-03-27 |
| Genre | : Education |
| ISBN | : 1784416576 |
This proposed volume will provide in-depth coverage about a construct known as the broad autism phenotype (BAP).
| Author | : |
| Publisher | : |
| Total Pages | : |
| Release | : 2009 |
| Genre | : |
| ISBN | : |
Background: Autism Spectrum Disorders (ASDs) are common, heritable neurobiologic conditions of unknown etiology confounded by significant clinical and genetic heterogeneity. In recent years, array CGH technology has been used to rapidly screen the genome for pathogenic copy number variants (PCNVs) associated with ASDs and data from 6 studies suggests that PCNVs contribute to ASD pathogenesis in 6-27% of cases. However, the role of PCNVs in ASDs remains poorly understood, due to the absence of comprehensive phenotyping of ASD subjects. Methods: To address this, we collected detailed clinical, medical, physical and morphologic information on all subjects and investigated whether these phenotypes would be good indicators of PCNV risk. We studied somatic phenotypes, as opposed to behavioural indices that change over time and with treatment, in an attempt to provide better evidence for the biological/embryological origin of ASDs and help define new ASD syndromes. Results: Seven disease-specific and potentially pathogenic CNVs were uncovered in 6/40 patients (15%). Two changes were de novo and 5 were inherited from normal parents, but had never been reported in normal populations before. All PCNVs were discovered in individuals without family history of autism, ranged in sizes from 175kb to 2.5Mb, and revealed 9 good candidate genes. Our results suggest that whilst no single phenotypic feature investigated associates with PCNV risk, there is an indication that the presence of phenotypic abnormalities involving multiple body areas may be a better indicator of PCNVs in ASDs than the presence or number of minor physical anomalies alone. In addition, our findings lend support to the idea that complex autism, involving significant dysmorphology, is etiologically distinct from essential autism, with an increased prevalence of ID, seizures and health problems, and a higher proportion of individuals without family history of ASDs. Conclusion: We identified novel areas of chromoso.
| Author | : Sally J. Rogers |
| Publisher | : Guilford Press |
| Total Pages | : 321 |
| Release | : 2010-01-01 |
| Genre | : Psychology |
| ISBN | : 1606236326 |
Supported by the principles of developmental psychology and applied behavior analysis, ESDM's intensive teaching interventions are delivered within play-based, relationship-focused routines. The manual provides structured, hands-on strategies for working with very young children in individual and group settings to promote development in such key domains as imitation; communication; social, cognitive, and motor skills; adaptive behavior; and play. --from publisher description
| Author | : Andrew Hann Chiang |
| Publisher | : |
| Total Pages | : |
| Release | : 2021 |
| Genre | : |
| ISBN | : |
We further observe that LGD mutations affecting the same exon frequently lead to strikingly similar phenotypes in unrelated ASD probands. These patterns are observed for two independent proband cohorts and multiple important ASD-associated phenotypes. The observed phenotypic similarities are likely mediated by similar changes in gene dosage and similar perturbations to the relative expression of splicing isoforms. We also identify patterns of developmental and cell type-specific expression that additionally contribute to the variability of several autism phenotypes.
| Author | : Michael Henri Duyzend |
| Publisher | : |
| Total Pages | : 155 |
| Release | : 2016 |
| Genre | : |
| ISBN | : |
Individuals with a diagnosis of a neurocognitive disorder, such as an autism spectrum disorder (ASD), can present with a wide range of phenotypes. Some have severe language and cognitive deficiencies while others are only deficient in social functioning. Sequencing studies have revealed extreme locus heterogeneity underlying the ASDs. Even cases with a known pathogenic variant, such as the 16p11.2 CNV, can be associated with phenotypic heterogeneity. In this thesis, I test the hypothesis that phenotypic heterogeneity observed in populations with a known pathogenic variant, such as the 16p11.2 CNV as well as that associated with the ASDs in general, is due to additional genetic factors. I analyze the phenotypic and genotypic characteristics of over 120 families where at least one individual carries the 16p11.2 CNV, as well as a cohort of over 40 families with high functioning autism and/or intellectual disability. In the 16p11.2 cohort, I assessed variation both internal to and external to the CNV critical region. Among de novo cases, I found a strong maternal bias for the origin of deletions (59/66, 89.4% of cases, p=2.38x10^-11), the strongest such effect so far observed for a CNV associated with a microdeletion syndrome, a significant maternal transmission bias for secondary deletions (32 maternal versus 14 paternal, p=1.14x10^-2), and nine probands carrying additional CNVs disrupting autism-associated genes. In the same cohort, I assessed genome wide exonic variation, including in the 27 16p11.2 CNV critical region genes and the 3 genes that lie in the flanking segmental duplications, BOLA2, SLX1A, and SULT1A3 with the hypothesis that dosage imbalance in these genes could lead to variable phenotypes. I find an absence of variation across the critical region, compared to similarly sized regions genome-wide by average heterozygosity (2nd percentile) and Tajima’s D (3rd percentile) metrics. Among the 27 critical region genes and three duplicated genes, I find no loss of function variants in 16p11.2 CNV carriers. Our genome-wide exome analysis revealed 13 likely-gene disruptive (LGD) variants in 13 probands in autism-associated genes, which is fewer than would be expected by chance (p
| Author | : Olivia Jean Veatch |
| Publisher | : |
| Total Pages | : 114 |
| Release | : 2013 |
| Genre | : Electronic dissertations |
| ISBN | : |
