The Developmental Neurobiology of Autism Spectrum Disorder

Editor’s Note: Two reviews in this week’s issue examine the rapidly expanding interest in autism research in the neuroscience community. Moldin et al. provide a brief prospective on the overall state of research in autism. DiCicco-Bloom and colleagues summarize their presentations at the

[1]  E. Courchesne,et al.  When Is the Brain Enlarged in Autism? A Meta-Analysis of All Brain Size Reports , 2005, Biological Psychiatry.

[2]  Larry J. Young,et al.  The V1a Vasopressin Receptor Is Necessary and Sufficient for Normal Social Recognition: A Gene Replacement Study , 2005, Neuron.

[3]  N. Kanwisher,et al.  The fusiform face area subserves face perception, not generic within-category identification , 2004, Nature Neuroscience.

[4]  J. Brian,et al.  Behavioral manifestations of autism in the first year of life , 2005, International Journal of Developmental Neuroscience.

[5]  J. Piven,et al.  Sociability and preference for social novelty in five inbred strains: an approach to assess autistic‐like behavior in mice , 2004, Genes, brain, and behavior.

[6]  Sarah E. London,et al.  Parallel FoxP1 and FoxP2 Expression in Songbird and Human Brain Predicts Functional Interaction , 2004, The Journal of Neuroscience.

[7]  R. S. Williams,et al.  Autism and mental retardation: neuropathologic studies performed in four retarded persons with autistic behavior. , 1980, Archives of neurology.

[8]  G. Dawson,et al.  Early Regression in Social Communication in Autism Spectrum Disorders: A CPEA Study , 2005, Developmental neuropsychology.

[9]  R. Schultz,et al.  Functional Neuroimaging Studies of Autism Spectrum Disorders , 2005 .

[10]  Emanuel Dicicco-Bloom,et al.  Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. , 2005, American journal of human genetics.

[11]  T. Insel,et al.  Infant Vocalization, Adult Aggression, and Fear Behavior of an Oxytocin Null Mutant Mouse , 2000, Hormones and Behavior.

[12]  F. Volkmar,et al.  Handbook of Autism and Pervasive Developmental Disorders , 1987 .

[13]  Jack W. Tsao,et al.  What's wrong with my mouse: Behavioral phenotyping of transgenic and knockout mice, J. Crawley. Wiley-Interscience, Hoboken, NJ (2007), 523 pages, $99.95 , 2008 .

[14]  P. Rodier,et al.  The teratology of autism , 2005, International Journal of Developmental Neuroscience.

[15]  M. Scott,et al.  Control of Neuronal Precursor Proliferation in the Cerebellum by Sonic Hedgehog , 1999, Neuron.

[16]  Carla J. Shatz,et al.  Immune signalling in neural development, synaptic plasticity and disease , 2004, Nature Reviews Neuroscience.

[17]  L. Kanner.  Autistic disturbances of affective contact. , 1968, Acta paedopsychiatrica.

[18]  K. Park,et al.  Dynamic Change in Plasma Leptin Level during the Perioperative Period , 2003, Hormone Research in Paediatrics.

[19]  P. Hof,et al.  Autism: neuropathology, alterations of the GABAergic system, and animal models. , 2005, International review of neurobiology.

[20]  T. Hashimoto,et al.  Development of the brainstem and cerebellum in autistic patients , 1995, Journal of autism and developmental disorders.

[21]  T. Insel,et al.  The social deficits of the oxytocin knockout mouse , 2002, Neuropeptides.

[22]  D. Geschwind,et al.  Quantitative genome scan and Ordered-Subsets Analysis of autism endophenotypes support language QTLs , 2005, Molecular Psychiatry.

[23]  P. Ashwood,et al.  Is autism an autoimmune disease? , 2004, Autoimmunity reviews.

[24]  E. Fombonne.  The prevalence of autism. , 2003, JAMA.

[25]  G. Lyon,et al.  NEUROPATHOLOGICAL STUDY OF A CASE OF AUTISTIC SYNDROME WITH SEVERE MENTAL RETARDATION , 1996, Developmental medicine and child neurology.

[26]  T. Insel,et al.  Increased affiliative response to vasopressin in mice expressing the V1a receptor from a monogamous vole , 1999, Nature.

[27]  A. Scheibel,et al.  Lower Purkinje cell counts in the cerebella of four autistic subjects: initial findings of the UCLA-NSAC Autopsy Research Report. , 1986, The American journal of psychiatry.

[28]  P. Coleman,et al.  Cell counts in cerebral cortex of an autistic patient , 1985, Journal of autism and developmental disorders.

[29]  E. Courchesne,et al.  Face processing occurs outside the fusiform 'face area' in autism: evidence from functional MRI. , 2001, Brain : a journal of neurology.

[30]  M. Yang,et al.  Behavior-related alterations of striatal neurochemistry in a mouse model of stereotyped movement disorder , 2004, Pharmacology Biochemistry and Behavior.

[31]  H. Critchley,et al.  Explicit and implicit neural mechanisms for processing of social information from facial expressions: A functional magnetic resonance imaging study , 2000, Human brain mapping.

[32]  P. Rodier,et al.  Embryological origin for autism: Developmental anomalies of the cranial nerve motor nuclei , 1996, The Journal of comparative neurology.

[33]  James N. Sussex,et al.  The Empty Fortress: Infantile Autism and the Birth of the Self , 1967, Pediatrics.

[34]  M. Bauman,et al.  Microscopic neuroanatomic abnormalities in autism. , 1991, Pediatrics.

[35]  Kim M. Dalton,et al.  Gaze fixation and the neural circuitry of face processing in autism , 2005, Nature Neuroscience.

[36]  Eric Courchesne,et al.  Localized enlargement of the frontal cortex in early autism , 2005, Biological Psychiatry.

[37]  G. Dawson,et al.  Autism and the serotonin transporter: the long and short of it , 2005, Molecular Psychiatry.

[38]  Larry J Young,et al.  Microsatellite Instability Generates Diversity in Brain and Sociobehavioral Traits , 2005, Science.

[39]  H. Eichenbaum,et al.  Neural correlates of social odor recognition and the representation of individual distinctive social odors within entorhinal cortex and ventral subiculum , 2005, Neuroscience.

[40]  C. Frith,et al.  Autism, Asperger syndrome and brain mechanisms for the attribution of mental states to animated shapes. , 2002, Brain : a journal of neurology.

[41]  Eric Courchesne,et al.  Cerebral Lobes in Autism: Early Hyperplasia and Abnormal Age Effects , 2002, NeuroImage.

[42]  C Martin-Ruiz,et al.  Nicotinic receptor abnormalities in the cerebellar cortex in autism. , 2002, Brain : a journal of neurology.

[43]  S. Bryson,et al.  Studying the Emergence of Autism Spectrum Disorders in High-risk Infants: Methodological and Practical Issues , 2007, Journal of autism and developmental disorders.

[44]  Eric Hollander,et al.  Oxytocin Infusion Reduces Repetitive Behaviors in Adults with Autistic and Asperger's Disorders , 2003, Neuropsychopharmacology.

[45]  J. Oberdick,et al.  Ectopic Overexpression of Engrailed-2 in Cerebellar Purkinje Cells Causes Restricted Cell Loss and Retarded External Germinal Layer Development at Lobule Junctions , 1998, The Journal of Neuroscience.

[46]  J. Crawley,et al.  Social transmission of food preference in mice: methodology and application to galanin-overexpressing transgenic mice. , 2003, Behavioral neuroscience.

[47]  Lee M. Silver,et al.  Social approach–avoidance behavior of inbred mouse strains towards DBA/2 mice , 2004, Brain Research.

[48]  E. Lander,et al.  Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results , 1995, Nature Genetics.

[49]  E. Dicicco-Bloom,et al.  Pituitary Adenylate Cyclase Activating Polypeptide Anti-Mitogenic Signaling in Cerebral Cortical Progenitors Is Regulated by p57Kip2-Dependent CDK2 Activity , 2002, The Journal of Neuroscience.

[50]  G. McCarthy,et al.  Neural basis of eye gaze processing deficits in autism. , 2005, Brain : a journal of neurology.

[51]  B. Leventhal,et al.  Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism , 2002, Molecular Psychiatry.

[52]  C. Bartlett,et al.  Three autism candidate genes: a synthesis of human genetic analysis with other disciplines , 2005, International Journal of Developmental Neuroscience.

[53]  S. Folstein,et al.  Incorporating language phenotypes strengthens evidence of linkage to autism. , 2001, American journal of medical genetics.

[54]  Larry J Young,et al.  Profound Impairment in Social Recognition and Reduction in Anxiety-Like Behavior in Vasopressin V1a Receptor Knockout Mice , 2004, Neuropsychopharmacology.

[55]  G. Dawson,et al.  Regional brain chemical alterations in young children with autism spectrum disorder , 2003, Neurology.

[56]  J. Piven,et al.  Automated apparatus for quantitation of social approach behaviors in mice , 2004, Genes, brain, and behavior.

[57]  R. Schultz.  Developmental deficits in social perception in autism: the role of the amygdala and fusiform face area , 2005, International Journal of Developmental Neuroscience.

[58]  A. Bailey,et al.  A clinicopathological study of autism. , 1998, Brain : a journal of neurology.

[59]  I. Tatsuno,et al.  PACAP is an anti-mitogenic signal in developing cerebral cortex , 2001, Nature Neuroscience.

[60]  Eric Courchesne,et al.  Brain overgrowth in autism during a critical time in development: implications for frontal pyramidal neuron and interneuron development and connectivity , 2005, International Journal of Developmental Neuroscience.

[61]  I. Black,et al.  Hippocampal granule neuron production and population size are regulated by levels of bFGF , 2002, The European journal of neuroscience.

[62]  A. Zimmerman,et al.  Neuroglial activation and neuroinflammation in the brain of patients with autism , 2005, Annals of neurology.

[63]  F. Polleux,et al.  Toward a developmental neurobiology of autism. , 2004, Mental retardation and developmental disabilities research reviews.

[64]  S. Fatemi,et al.  Altered levels of Bcl2 and p53 proteins in parietal cortex reflect deranged apoptotic regulation in autism , 2001, Synapse.

[65]  R. Landa,et al.  Development in infants with autism spectrum disorders: a prospective study. , 2006, Journal of child psychology and psychiatry, and allied disciplines.

[66]  E. Dicicco-Bloom,et al.  Basic Fibroblast Growth Factor Exhibits Dual and Rapid Regulation of Cyclin D1 and p27KIP1 to Stimulate Proliferation of Rat Cerebral Cortical Precursors , 2004, Developmental Neuroscience.

[67]  E. London.  The environment as an etiologic factor in autism: a new direction for research. , 2000, Environmental health perspectives.

[68]  P. Hof,et al.  Neuropathological observations in a case of autism presenting with self-injury behavior , 2004, Acta Neuropathologica.

[69]  J. Crawley.  Designing mouse behavioral tasks relevant to autistic-like behaviors. , 2004, Mental retardation and developmental disabilities research reviews.

[70]  I. Black,et al.  A single peripheral injection of basic fibroblast growth factor (bFGF) stimulates granule cell production and increases cerebellar growth in newborn rats. , 2001, Journal of neurobiology.

[71]  R. Benayed,et al.  Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder , 2004, Molecular Psychiatry.

[72]  G. Dawson,et al.  Brain structural abnormalities in young children with autism spectrum disorder , 2002, Neurology.

[73]  E. Courchesne.  Brain development in autism: early overgrowth followed by premature arrest of growth. , 2004, Mental retardation and developmental disabilities research reviews.

[74]  J. Piven,et al.  Magnetic resonance imaging and head circumference study of brain size in autism: birth through age 2 years. , 2005, Archives of general psychiatry.

[75]  T. Insel,et al.  Oxytocin in the Medial Amygdala is Essential for Social Recognition in the Mouse , 2001, The Journal of Neuroscience.

[76]  J. Waschek,et al.  Pituitary Adenylate Cyclase-Activating Polypeptide and Sonic Hedgehog Interact to Control Cerebellar Granule Precursor Cell Proliferation , 2002, The Journal of Neuroscience.

[77]  P. Thuras,et al.  Purkinje Cell Size Is Reduced in Cerebellum of Patients with Autism , 2002, Cellular and Molecular Neurobiology.

[78]  D. Amaral,et al.  The Amygdala Is Enlarged in Children But Not Adolescents with Autism; the Hippocampus Is Enlarged at All Ages , 2004, The Journal of Neuroscience.

[79]  C. Carter,et al.  Physiological substrates of mammalian monogamy: The prairie vole model , 1995, Neuroscience & Biobehavioral Reviews.

[80]  A. Joyner,et al.  Abnormal embryonic cerebellar development and patterning of postnatal foliation in two mouse Engrailed-2 mutants. , 1994, Development.

[81]  N. Minshew,et al.  Effects of age on brain volume and head circumference in autism , 2002, Neurology.

[82]  K. Brodmann.  Vergleichende Lokalisationslehre der Großhirnrinde : in ihren Prinzipien dargestellt auf Grund des Zellenbaues , 1985 .

[83]  E. Perry,et al.  Molecular analysis of nicotinic receptor expression in autism. , 2004, Brain research. Molecular brain research.

[84]  Courtney A. Harper,et al.  A genomic screen of autism: evidence for a multilocus etiology. , 1999, American journal of human genetics.

[85]  M. Just,et al.  Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity. , 2004, Brain : a journal of neurology.

[86]  E H Cook,et al.  Quantifying the phenotype in autism spectrum disorders. , 2001, American journal of medical genetics.

[87]  S. Baron-Cohen,et al.  The development of siblings of children with autism at 4 and 14 months: social engagement, communication, and cognition. , 2006, Journal of child psychology and psychiatry, and allied disciplines.

[88]  F. Volkmar,et al.  Abnormal ventral temporal cortical activity during face discrimination among individuals with autism and Asperger syndrome. , 2000, Archives of general psychiatry.

[89]  E. Perry,et al.  Depletion of MAP2 expression and laminar cytoarchitectonic changes in dorsolateral prefrontal cortex in adult autistic individuals , 2004, Neuropathology and applied neurobiology.

[90]  C. Gillberg,et al.  AUTISM IN THALIDOMIDE EMBRYOPATHY: A POPULATION STUDY , 1994, Developmental medicine and child neurology.

[91]  T. Wassink,et al.  The search for autism disease genes. , 2004, Mental retardation and developmental disabilities research reviews.

[92]  J. Winslow.  Neuropeptides and non-human primate social deficits associated with pathogenic rearing experience , 2005, International Journal of Developmental Neuroscience.

[93]  S. Fatemi,et al.  Reelin mutations in mouse and man: from reeler mouse to schizophrenia, mood disorders, autism and lissencephaly , 2001, Molecular Psychiatry.

[94]  J. Faubert,et al.  Enhanced and diminished visuo-spatial information processing in autism depends on stimulus complexity. , 2005, Brain : a journal of neurology.

[95]  E. Fombonne,et al.  Pervasive developmental disorders in preschool children. , 2001, JAMA.

[96]  J. Piven,et al.  Structural and functional magnetic resonance imaging of autism , 2002, International Journal of Developmental Neuroscience.

[97]  T. Langdell,et al.  Recognition of faces: an approach to the study of autism. , 1978, Journal of child psychology and psychiatry, and allied disciplines.

[98]  F. Volkmar,et al.  Visual fixation patterns during viewing of naturalistic social situations as predictors of social competence in individuals with autism. , 2002, Archives of general psychiatry.

[99]  Andrew E. Switala,et al.  Minicolumnar pathology in autism , 2002, Neurology.

[100]  P. Szatmari.  Heterogeneity and the genetics of autism. , 1999, Journal of psychiatry & neuroscience : JPN.

[101]  E. Courchesne,et al.  Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection , 2005, Current Opinion in Neurobiology.

[102]  G. Griebel,et al.  The Mouse Defense Test Battery: pharmacological and behavioral assays for anxiety and panic. , 2003, European journal of pharmacology.

[103]  Henry H. Work,et al.  The Empty Fortress: Infantile Autism and the Birth of the Self. , 1967 .

[104]  David A. Ziegler,et al.  Localization of white matter volume increase in autism and developmental language disorder , 2004, Annals of neurology.

[105]  C. Gillberg,et al.  Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review , 2005, International Journal of Developmental Neuroscience.

[106]  L. Young,et al.  Neuropeptides and social behavior: animal models relevant to autism , 2002, Molecular Psychiatry.

[107]  Ruth A. Carper,et al.  Unusual brain growth patterns in early life in patients with autistic disorder , 2001, Neurology.

[108]  M B Jones,et al.  Genetics of Autism: Overview and New Directions , 1998, Journal of autism and developmental disorders.

[109]  R. Neuman,et al.  Brain-Derived Neurotrophic Factor and Autoantibodies to Neural Antigens in Sera of Children with Autistic Spectrum Disorders, Landau-Kleffner Syndrome, and Epilepsy , 2006, Biological Psychiatry.

[110]  P. Patterson,et al.  Maternal influenza infection is likely to alter fetal brain development indirectly: the virus is not detected in the fetus , 2005, International Journal of Developmental Neuroscience.

[111]  T. Kemper,et al.  The contribution of neuropathologic studies to the understanding of autism. , 1993, Neurologic clinics.

[112]  E. Bullmore,et al.  Social intelligence in the normal and autistic brain: an fMRI study , 1999, The European journal of neuroscience.

[113]  E. Fombonne.  Epidemiological Surveys of Autism and Other Pervasive Developmental Disorders: An Update , 2003, Journal of autism and developmental disorders.

[114]  S. Fatemi,et al.  Levels of Bcl-2 and P53 Are Altered in Superior Frontal and Cerebellar Cortices of Autistic Subjects , 2003, Cellular and Molecular Neurobiology.

[115]  T. Insel,et al.  The neurobiology of attachment , 2001, Nature Reviews Neuroscience.

[116]  S. Scherer,et al.  Molecular Cytogenetics of Autism , 2004 .

[117]  Andrew E. Switala,et al.  Neuronal Density and Architecture (Gray Level Index) in the Brains of Autistic Patients , 2002, Journal of child neurology.

[118]  Lalit,et al.  Etiology of infantile autism: a review of recent advances in genetic and neurobiological research. , 1999, Journal of psychiatry & neuroscience : JPN.

[119]  Elizabeth Redcay,et al.  The autistic brain: birth through adulthood , 2004, Current opinion in neurology.

[120]  T. Kemper,et al.  Density and Distribution of Hippocampal Neurotransmitter Receptors in Autism: An Autoradiographic Study , 2001, Journal of autism and developmental disorders.

[121]  C. Feinstein,et al.  Plasma oxytocin levels in autistic children , 1998, Biological Psychiatry.

[122]  L. Young,et al.  The neurobiology of pair bonding , 2004, Nature Neuroscience.

[123]  Patrick R Hof,et al.  Neuropathological findings in autism. , 2004, Brain : a journal of neurology.

[124]  T. Kemper,et al.  Hippocampus in autism: a Golgi analysis , 1995, Acta Neuropathologica.

[125]  Jennifer H. Pfeifer,et al.  Understanding emotions in others: mirror neuron dysfunction in children with autism spectrum disorders , 2006, Nature Neuroscience.

[126]  H. Engeland,et al.  Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism , 2006, Molecular Psychiatry.

[127]  S. Mostofsky,et al.  Specificity of Cerebellar Vermian Abnormalities in Autism: A Quantitative Magnetic Resonance Imaging Study , 2003, Journal of child neurology.

[128]  T. Horbach,et al.  No Influence of Surgical Stress on Postoperative Leptin Gene Expression in Different Adipose Tissues and Soluble Leptin Receptor Plasma Levels , 2003, Hormone Research in Paediatrics.

[129]  Larry J. Young,et al.  Neuropeptides and the social brain: potential rodent models of autism , 2005, International Journal of Developmental Neuroscience.

[130]  H. Engeland,et al.  Review on structural neuroimaging findings in autism , 2004, Journal of Neural Transmission.