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The must-have review of neurobiological research that increases understanding of and ability to treat ASDs

Table of Contents

Section 1: Autism Spectrum Disorders1.1 Epidemiology of autism spectrum disorders; 1.2 The behavioral manifestations of autism spectrum disorders; 1.3 Early manifestations of autism spectrum disorders; 1.4 Asperger Syndrome and Its Relationship to Autism Spectrum Disorders; 1.5 Behavioral and Psychosocial Interventions for Individuals with ASD; 1.6 Current Trends in the Pharmacological Treatment of Autism Spectrum Disorders; 1.7 Novel therapeutics in autism spectrum disorders

Section 2: Etiology of Autism Spectrum Disorders2.1 Medical genetics and autism spectrum disorders; 2.2 Copy Number Variation in Autism Spectrum Disorders; 2.3 Common genetic variants in autism spectrum disorders; 2.4 Next-Generation Sequencing for Gene and Pathway Discovery and Analysis in Autism Spectrum Disorders; 2.5 Mitochondria and Autism Spectrum Disorders; 2.6 Parental and perinatal risk factors in ASDs; 2.7 The Environment in autism spectrum disorders; 2.8 Hormonal influences in typical development: Implications for autism; 2.9 Immune abnormalities and autism spectrum disorders

Section 3: Brain Imaging and Neuropatholgy of Autism Spectrum Disorders3.1 Structural and functional MRI studies of autism spectrum disorders; 3.2 DTI and tractography in the autistic brain; 3.3 Attentional network deficits in autism spectrum disorders; 3.4 The cerebellum in autism spectrum disorders; 3.5 The amygdala in autism spectrum disorders; 3.6 Discrete cortical neuropathology in autism spectrum disorders; 3.7 The minicolumnopathy of autism spectrum disorders; 3.8 Inhibitory and excitatory systems in autism spectrum disorders; 3.9 Clinicopathological Stratification of Idiopathic Autism and Autism Associated with 15q11.2-q13 Duplications

Section 4: Model Systems and Pathways in Autism Spectrum Disorders4.1 Mouse behavioral models for autism spectrum disorders; 4.2 Nonhuman primate models for autism spectrum disorders; 4.3 Inducible pluripotent stem cells in ASDs; 4.4 A 15q11-q13 duplication mouse model for autism spectrum disorders; 4.5 Fragile X syndrome and autism spectrum disorders; 4.6 MECP2 and autism spectrum disorders; 4.7 SHANK2 and SHANK3 Mutations Implicate Glutamate Signaling Abnormalities in Autism Spectrum Disorders; 4.8 PI3K signaling and miRNA regulation in autism spectrum disorders; 4.9 Getting from 1000 genes to a triad of symptoms: The emerging role of systems biology in autism spectrum disorders

About the Author

Dr. Joseph Buxbaum is a world-renowned molecular geneticist who has been intimately affiliated with the Seaver Autism Center since joining the faculty at Mount Sinai in 1997. Dr. Buxbaum was recruited in part to establish a molecular genetics program in autism spectrum conditions within Mount Sinai. As such, he was the Director of Molecular Genetics in the Seaver Autism Center for seven years and took over Directorship of the Seaver Autism Center itself in 2008. Dr. Buxbaum has focused on understanding the molecular and genetic basis of autism spectrum conditions, which will allow for a better understanding of what causes them, leading to the development of novel therapeutics for the negative aspects of these disorders.

Additionally, Dr. Buxbaum heads the Laboratory of Molecular Neuropsychiatry, which has taken the findings of the causes of autism and translated them into animal models where therapeutic approaches can be evaluated. In this context, Dr. Buxbaum has established the Autism Model Systems Initiative, which makes use of multiple experimental systems to develop and evaluate novel therapeutics in autism spectrum conditions.

Dr. Buxbaum has taken the lead in collaborations with multiple independent sites to ensure that the best science in the service of the families is carried out. Dr. Buxbaum is a lead investigator in the Autism Genetics Consortium, the Autism Genome Project, and the Autism Case Control Cohort, and is a part of the Psychiatric Genetics Consortium. These large Consortia have the benefit of advancing the best science at the fastest pace.

As the founder and co-leader of the Autism Sequencing Consortium, Dr. Buxbaum is part of an international group of scientists who share autism samples, data, and ideas in order to accelerate our understanding of the causes and treatments of autism.

Dr. Buxbaum, the G. Harold and Leila Y. Mathers Professor, has received numerous awards for his research. He has received recognition from the American College of Neuropsychopharmacology (ACNP) in the form of the Daniel H. Efron award for "excellence in research in neuropsychophamacology" (2005), as well as from the Eden Institute Foundation for his "commitment and dedication to improving the quality of life in individuals with autism" (2008). In 2010, Dr. Buxbaum received the Richard D. Todd Memorial Award from the International Society of Psychiatric Genetics, the Joel Elkes Research Award from ACNP, and the Evans Research Award from the Marine Biological Laboratory. He also received the 2011 Dean’s Award for Excellence in Translational Science. Dr. Buxbaum has published over 150 publications in esteemed journals and his work on autism and related conditions has been published in major journals including Nature, Nature Genetics, Proceedings of the National Academy of Sciences, Molecular Psychiatry, and Biological Psychiatry. He is the co-Editor-in-chief of Molecular Autism, a journal that publishes cutting-edge research in autism genetics.

To read Dr. Buxbaum's blog, visit http://scitechconnect.elsevier.com/category/neuroscience/

Dr. Hof is the Irving and Dorothy Regenstreif Research Professor of Neuroscience and the Vice-Chair of the Department of Neuroscience at the Icahn School of Medicine at Mount Sinai in New York. He also leads the Center of Excellence on Brain Aging of the Friedman Brain Institute. His laboratory has extensive expertise in the pathology of neuropsychiatric disorders and has established an international reputation in quantitative approaches to neuroanatomy and studies of brain evolution.

Dr. Hof earned his MD from the University of Geneva, School of Medicine in Switzerland. He came to the USA as a postgraduate fellow at the Research Institute of Scripps Clinic, La Jolla, CA. In 1989 he came to Mount Sinai School of Medicine as a Senior Research Associate and joined the Faculty there in 1990. He is also a Professor of Geriatrics and Ophthalmology at Mount Sinai.

Dr. Hof's research is directed towards the study of selective neuronal vulnerability in dementing illnesses and aging using classical neuropathologic as well as modern quantitative morphologic methods to determine the cellular features that render the human brain uniquely vulnerable to degenerative disorders. Dr. Hof also conducts analyses of the distribution and connectivity patterns of pyramidal neuron subpopulations in the macaque monkey cerebral cortex in young and very old animals to study possible age-related changes in the neurochemical characteristics of the neurons of origin of corticocortical projections. He develops stereologic, high-resolution morphometric, and imaging tools for the quantitative study of neuroanatomical specimens and brain atlas development. Among his major contributions, Dr. Hof demonstrated that specific neurons are selectively vulnerable in dementing disorders such as Alzheimer’s disease. He has made contributions to quantifying the differences between normal aging brains and Alzheimer’s disease, as well as other mental illnesses such as schizophrenia and autism. Dr. Hof is also the curator of a mammalian brain collection that includes a large series of great ape specimens, as well as an extensive sample of marine mammals. He has contributed considerably to our understanding of the structure of the cetacean brain and has identified, in select mammalian brains, specific neuronal types in parts of the cerebral cortex known to be involved in social awareness, judgment, and attention, that can be considered as markers of adaptive mechanisms and functions in response to particular ecological pressures.