Le scoperte nell’ambito della biologia dell’autismo sono ancora molto frammentarie. Un dato viene scoperto da un gruppo e non confermato da un altro. I campi della ricerca sono disparati e tra loro apparentemente lontani. I dati inerenti ai vari campi di ricerca sono sintetizzabili in una teoria unificante o rispecchiano l’eterogeneità dello spettro autistico? Questo è già evidente nel fenotipo e forse ancora di più nelle cause e nei fattori di rischio, quando su questi si farà luce. D’altra parte, mentre fino a qualche anno fa le ricerche erano poche, ora sono molte e non è facile tenervi dietro pur con l’aiuto delle banche dati a tutti disponibili. Per questo penso sia utile fare ogni tanto il punto della situazione in una monografia come quella curata da Andrew Zimmerman, alla quale ha partecipato Flavio Keller, Professore all’Università Campus biomedico di Roma e componente del Comitato scientifico dell’ANGSA
Autism - Current Theories and Evidence, publié chez Humana Press (Springer).
Riassunto
Creative thinking and collaborative scientific research have advanced our understanding of autism and we are now beginning to synthesize the data into evidence and theories. Autism: Current Theories and Evidence presents current theories about autism and the evidence that supports them. The goal is to show how the scientific method is revealing the biological bases of this spectrum of disorders, thereby leading the way to their treatment and prevention using evidence-based medicine. This book has 20 chapters divided into 6 sections: Molecular and Clinical Genetics; Neurotransmitters and Cell Signaling; Endocrinology, Growth and Metabolism; Immunology, Maternal-Fetal Effects and Neuroinflammation; Neuroanatomy, Imaging and Neural networks; and Environmental Mechanisms and Models. The subjects cover a wide range of current scientific work in the field of autism, with strong and growing evidence to support them, and demonstrate both the breadth and depth of
current autism research. The reader is encouraged to consider how theories and the scientific method, in the hands of these and other dedicated researchers, are leading to greater knowledge and continued progress in autism research.
Written for:
Neurologists, pediatric neurologists, neuroscientists, practicing physicians, clinical neuroscientists, graduate students, fellows, neuropharmacologists, pediatric physicians
Indice
Part I : Molecular and Clinical Genetics
Engrailed2 and Cerebellar Development in the Pathogenesis of Autism Spectrum Disorders
Ian T. Rossman and Emanuel DiCicco-Bloom – p.3-40
Teratogenic Alleles in Autism and Other Neurodevelopmental Disorders
William G. Johnson, Madhura Sreenath, Steven Buyske and Edward S. Stenroos – p.41-68
Cholesterol Deficit in Autism: Insights from Smith–Lemli–Opitz Syndrome
Alka Aneja and Elaine Tierney – p.69-79
Autism in Genetic Intellectual Disability : Insights into Idiopathic Autism
Walter E. Kaufmann, George T. Capone, Megan Clarke and Dejan B. Budimirovic – p.81-108
Part II : Neurotransmitters and Cell Signaling
Serotonin Dysfunction in Autism
Mary E. Blue, Michael V. Johnston, Carolyn B. Moloney and Christine F. Hohmann – p.111-132
Excitotoxicity in Autism : The Role of Glutamate in Pathogenesis and Treatment
Martin Evers and Eric Hollander – p.133-145
Prenatal β2-Adrenergic Receptor Signaling and Autism : Dysmaturation and Retained Fetal Function
Susan L. Connors – p.147-182
Part III : Endocrinology, Growth, and Metabolism
A Role for Fetal Testosterone in Human Sex Differences : Implications for Understanding Autism
Bonnie Auyeung and Simon Baron-Cohen – p.185-208
Interaction between Genetic Vulnerability and Neurosteroids in Purkinje cells as a Possible Neurobiological Mechanism in Autism Spectrum Disorders
Flavio Keller, Roger Panteri and Filippo Biamonte – p.209-231
Insulin-Like Growth Factors : Neurobiological Regulators of Brain Growth in Autism?
Raili Riikonen – p.233-244
Oxidative Stress and the Metabolic Pathology of Autism
S. Jill James – p.245-268
Part IV : Immunology, Maternal-Fetal Interaction, and Neuroinflammation
The Immune System in Autism : Is There a Connection?
Luke Heuer, Paul Ashwood and Judy Van de Water - p.271-288
Maternal Immune Activation, Cytokines and Autism
Paul H. Patterson, Wensi Xu, Stephen E.P. Smith and Benjamin E. Devarman – p.289-307
Maternal Antibodies and the Placental–Fetal IgG Transfer Theory
Christina M. Morris, Mikhail Pletnikov, Andrew W. Zimmerman and Harvey S. Singer – p.309-328
Can Neuroinflammation Influence the Development of Autism Spectrum Disorders?
Carlos A. Pardo-Villamizar – p.329-346
Part V : Neuroanatomy and Neural networks
The Significance of Minicolumnar Size Variability in Autism : A Perspective from Comparative Anatomy
Manuel F. Casanova – p.349-360
Imaging Evidence for Pathological Brain Development in Autism Spectrum Disorders
Stephen R. Dager, Seth D. Friedman, Helen Petropoulos and Dennis W.W. Shaw – p.361-379
Information Processing, Neural Connectivity, and Neuronal Organization
Nancy J. Minshew, Diane L. Williams and Kathryn McFadden – p.381-405
Part VI : Environmental Mechanisms and Models
Evidence for Environmental Susceptibility in Autism : What We Need to Know About Gene × Environment Interactions
Isaac N. Pessah and Pamela J. Lein – p.409-428
An Expanding Spectrum of Autism Models : From Fixed Developmental Defects to Reversible Functional Impairments
Martha R. Herbert and Matthew P. Anderson – p.429-463
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