Open Access Medical Books



Edited by Valsamma Eapen .

498 pages . 
Open Access .
ISBN 978-953-307-493-1 .

The book, “Autism: A Neurodevelopmental Journey from Genes to Behaviour” reflects the wide range of research being conducted into the aetiology, pathogenesis, clinical characteristics, and intervention in autism. While individual chapters cover alterations in genes, neurochemicals, protein complexes, receptors, synaptic connections etc. that contribute to altered neuronal development, together they convey the story of a neurodevelopmental journey that has lost its way and is aberrant in connectivity. In this regard, Dr. Dafna Ben Bashat discusses abnormal developmental trajectories of White Matter (WM) in autism and suggests that disturbed, abnormal and disorganized inter‐ and intra–cortical connections are one of the core issues in autism, resulting in poorly synchronized and weakly responsive networks, which in turn lead to abnormal cognitive and neurological functioning. While MRI studies have revealed impaired connectivity, and increased brain volume especially early in life, DTI can detect microstructural changes that might help to reveal the neurobiology underpinning autism such as accelerated‐myelination at a young age. In the chapter GABAergic dysfunction in autism and epilepsy, Prof. Yuri Bozzi and colleagues explore the role of GABAergic neurons and circuits in autism and review the genetic, cellular, anatomical and neurophysiological studies that support the hypothesis that the imbalance between excitation and inhibition resulting from neurodevelopmental defects in GABAergic circuitry might represent a common cause for autism and epilepsy.
Following this theme, Prof. Ricardo Miledi and colleagues in their chapter “GABA and Glutamate Receptors of the Autistic Brain” argue that autism is a developmental synaptic disorder that affects the processing  of behavioural relevant information.
Given that GABAergic and glutamatergic synapses appear to be convergent nodes of genetic, epigenetic, and probably environmental factors causing the autistic phenotype, they propose that GABA and glutamate receptors may form important targets for pharmacological interventions. In the next chapter Dr. Dayan Goodenowe further elaborates the biochemical basis of autistic behavior focusing on glutamate and mitochondrial toxicity with suggestions for dietary and pharmacological therapies.
Here mitochondrial dysfunction is implicated in findings such as abnormal brain growth, seizures, gender bias, and selective autistic pathology involving chronic microglial activation as well as “immunoexcitotoxicity” by glutamate. Serotonergic neurotransmission in autism is the focus of a chapter by Dr. Yoshihiro Takeuchi from
Japan while Prof. Susan Masino and colleagues continue this theme by reviewing the actions of Adenosine in the central nervous system, with multiple implications for autism, and the potential for developing new evidence‐based therapies. The chapter by Dr. Rene Anand et al using postmortem, genetic, functional, and molecular neurobiological methodologies discuss a rationale that neuronal nicotinic acetylcholine receptor (nAChR) alterations are biomarkers for autism and that specific nAChRs subtypes are likely to be useful therapeutic targets for the treatment of core deficits.
With all the recent attention on the genetic advances, a number of chapters cover gene effects as well as the environmental modulation of these effects. For example, Dr. Abdullah Alqallaf presents an overview for the analysis of genetic variations in the form of DNA copy number changes and suggests that autism is associated with an increased amount of copy number alteration in unstable segments of the genome and that combinations of copy number variations could provide the basis for discriminating autistic and typically developing groups and potentially identifying distinct subgroups within the phenotypic heterogeneity of autism. The chapter “Genome‐wide Association Studies of Copy Number Variation in Autism” by Prof. Yeun‐Jun Chung reviews the current data on GWAS and argue that the integration of the GWAS data with other resources such as improved bio‐imaging, personal wholegenome sequencing, gene‐environmental interaction and metagenome analysis data will enable us to get a more comprehensive insight to designing future personalized care of autism. The focus of the chapter by Prof. Haruhiro Higashida et al is the finding of a missense mutation in CD38 in three autism pedigrees with a proposal that the CD38 W140 allele could be a risk factor for at least one form of autism by abrogating oxytocin function. On a related topic, Prof. Neumann Inga discusses brain oxytocin as a main regulator of prosocial behaviour and its role in autism.
Although much progress has been made in the recent past in identifying some of the genes that play a crucial role in autism, significant research has also focused on environmental and epigenetic factors involved in the genesis of the disorder. In the chapter “Environmental Factors in the Aetiology of Autism and Lessons from Animals Prenatally Exposed to Valproic Acid”, Dr. Tomasz Schneider and colleagues use rodent models to clarify complex relationships between genetic, behavioural and environmental variables to better understand and potentially cure autism.
Environmentally induced oxidative stress is the focus of the chapter by Prof. Elizabeth Sajdel‐Sulkowska. She discusses disruption of brain thyroid hormone homeostasis with special emphasis on the developmental impact of environmental toxicants, such as herbicides, polychlorinated biphenyls (PCBs), bisphenol A (BPA) and organic mercury compounds that interfere with the thyroid hormone as a possible factor contributing to autistic pathology .....

Dr. Valsamma Eapen
Professor & Chair of Infant, Child and Adolescent Psychiatry,
University of New South Wales,


 1 Abnormal Developmental Trajectories of White Matter in Autism - The Contribution of MRI 1 Dafna Ben Bashat

 2 GABAergic Dysfunction in Autism and Epilepsy 25 Sacha Genovesi, Giovanni Provenzano, Mark Dunleavy, Paola Sgadò and Yuri Bozzi

 3 GABA and Glutamate Receptors of the Autistic Brain 49 Agenor Limon, Jorge M. Reyes-Ruiz and Ricardo Miledi

 4 The Biochemical Basis of Autistic Behavior and Pathology 65 Dayan Goodenowe and Elodie Pastural

 5 Serotonergic Neurotransmission in Autism Spectrum Disorders 91 Yoshihiro Takeuchi

 6 Adenosine and Autism - Recent Research and a New Perspective 103 Susan A. Masino, Julia Svedova, Masahito Kawamura, Jr., Francis D. DiMario, Jr. and Inge-Marie Eigsti

 7 Nicotinic Acetylcholine Receptor Alterations in Autism Spectrum Disorders – Biomarkers and Therapeutic Targets 123 Rene Anand, Stephanie A. Amici, Gerald Ponath, Jordan I. Robson, Muhammad Nasir and Susan B. McKay

 8 Identifying Variations Within Unstable Regions of the Genome Reveal Autism Associated Patterns 147 Abdullah Alqallaf and Ali Hajjiah

 9 Genome-Wide Association Studies of Copy Number Variation in Autism Spectrum Disorder 165 Hae-Jin Hu and Yeun-Jun Chung

 10 A Missense Mutation in CD38 Associated with Autism Spectrum Disorder in Three Pedigrees 183 Haruhiro Higashida, Toshio Munesue, Shigeru Yokoyama, Minako Hashii, Keita Koizumi and Akihiro Matsushima

 11 Brain Oxytocin is a Main Regulator of Prosocial Behaviour - Link to Psychopathology 197 Lukas Michael and Neumann Inga D

 12 Environmental Factors in the Aetiology of Autism – Lessons from Animals Prenatally Exposed to Valproic Acid 213 Tomasz Schneider and Ryszard Przewłocki

 13 Environmentally Induced Oxidative Stress and Disruption of Brain Thyroid Hormone Homeostasis in Autism Spectrum Disorders 251 Elizabeth M. Sajdel-Sulkowska

 14 Perinatal Immune Activation and Risk of Autism 267 Theoharis Theoharides, Asimenia Angelidou, Konstantinos-Dionysios Alysandratos, Shahrzad Asadi, Konstantinos Francis, Lefteris Lykouras and Dimitrios Kalogeromitros

 15 Immune System and Neurotrophic Factors in Autism 289 Elvan Iseri and Esra Guney

 16 Autoimmunity in Autism Spectrum Disorders 299 Laila Y. AL-Ayadhi

 17 Vaccines and Autism – An Unlikely Connection 319 Archana Chatterjee and Kody Moffatt

 18 Immune Dysfunction in Autism Spectrum Disorder 343 Jonna B. Westover, Thayne L. Sweeten, Michael Benson, Patricia Bray-Ward and Anthony R. Torres

 19 Impaired Oral Tolerance in ASD Children with Food Protein Induced Enterocolitis Syndrome (FPIES) – Altered Innate and Adaptive Immune Responses in ASD Children Recovered from FPIES in Comparison with non-ASD/FPIES and ASD/non-FPIES Children 369 Harumi Jyonouchi, Lee Geng, Pamella Kattouf, Deanna L. Streck and Gokce Toruner

 20 Clinical Evaluations on the Diagnosis of Autism 385 Michaela Dobre and Ileana Stoica

 21 Loneliness and Silence in Autism - Implications for Psychotherapy 411 Anna Bieniarz

 22 Mnesic Imbalance and the Neuroanatomy of Autism Spectrum Disorders 425 Miguel Ángel Romero-Munguía

 23 Behavioral and Electrophysiological Characterization of Induced Neural Plasticity in the Autistic Brain 445 Jaime A. Pineda, Heather Pelton, Oriana Aragon, Jia-Min Bai, Matt Erhart, Dane Chambers, Burcu Darst, Ernesto Enrique, Steven Gilmore, Stephen Johnson, Albert Anaya, Alicia Trigeiro, Dan T. Lotz, Nicholas Pojman, Tom Gamage and David Linderman

 24 Connecting Electroencephalography Profiles with the Gamma-Amino-Butyric Acid (GABA) Neuropathology of Autism as a Prelude to Treatment 463 Jane Yip, Sara Davis and Oliver Wendt .

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Published by: Unknown - Tuesday, August 27, 2013


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