Autism spectrum disorders: developmental disconnection syndromes

Current Opinion in Neurobiology - Tập 17 Số 1 - Trang 103-111 - 2007
Daniel H. Geschwind1, Pat Levitt2
1Program in Neurogenetics, Department of Neurology and Semel Institute, David Geffen School of Medicine at University of California Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095, USA.
2Vanderbilt Kennedy Center for Research on Human Development, Box 40 Peabody, Vanderbilt University, Nashville, TN 37203, USA

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Alarcon, 2002, Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families, Am J Hum Genet, 70, 60, 10.1086/338241

Spence, 2006, Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkage, Am J Med Genet B Neuropsychiatr Genet, 141, 591, 10.1002/ajmg.b.30329

Chakrabarti, 2005, Pervasive developmental disorders in preschool children: confirmation of high prevalence, Am J Psychiatry, 162, 1133, 10.1176/appi.ajp.162.6.1133

Volkmar, 1989, An examination of social typologies in autism, J Am Acad Child Adolesc Psychiatry, 28, 82, 10.1097/00004583-198901000-00015

Wing, 1979, Severe impairments of social interaction and associated abnormalities in children: epidemiology and classification, J Autism Dev Disord, 9, 11, 10.1007/BF01531288

Happe, 2006, Time to give up on a single explanation for autism, Nat Neurosci, 9, 1218, 10.1038/nn1770

Geschwind, 2006, Finding genes in spite of heterogeneity: endophenotypes, QTL mapping, and expression profiling in autism, 77

Spence, 2004, The genetics of autism, Semin Pediatr Neurol, 11, 196, 10.1016/j.spen.2004.07.003

Dawson, 2002, Defining the broader phenotype of autism: genetic, brain and behavioral perspectives, Dev Psychopathol, 14, 581, 10.1017/S0954579402003103

Frith, 2004, Is autism a disconnection disorder?, Lancet Neurol, 3, 577, 10.1016/S1474-4422(04)00875-0

Courchesne, 2005, Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection, Curr Opin Neurobiol, 15, 225, 10.1016/j.conb.2005.03.001

Geschwind, 1965, Disconnection syndromes in animals and man I, Brain, 88, 237, 10.1093/brain/88.2.237

Geschwind, 1965, Disconnection syndromes in animals and man II, Brain, 88, 585, 10.1093/brain/88.3.585

Levitt, 2003, Structural and functional maturation of the developing primate brain, J Pediatr, 143, S35, 10.1067/S0022-3476(03)00400-1

Rakic, 2006, A century of progress in corticoneurogenesis: from silver impregnation to genetic engineering, Cereb Cortex, 16, i3, 10.1093/cercor/bhk036

Rakic, 2002, Neurogenesis in adult primate neocortex: an evaluation of the evidence, Nat Rev Neurosci, 3, 65, 10.1038/nrn700

Bailey, 1995, Autism as a strongly genetic disorder: evidence from a British twin study, Psychol Med, 25, 63, 10.1017/S0033291700028099

Folstein, 1977, Infantile autism: a genetic study of 21 twin pairs, J Child Psychol Psychiatry, 18, 297, 10.1111/j.1469-7610.1977.tb00443.x

Folstein, 1977, Genetic influences and infantile autism, Nature, 265, 726, 10.1038/265726a0

Steffenburg, 1989, A twin study in Denmark, Finland, Iceland, Norway and Sweden, J Child Psychol Psychiatry, 30, 405, 10.1111/j.1469-7610.1989.tb00254.x

Bolton, 1994, A case-control family history study of autism, J Child Psychol Psychiatry, 35, 877, 10.1111/j.1469-7610.1994.tb02300.x

Bailey, 1998, A clinicopathological study of autism, Brain, 121, 889, 10.1093/brain/121.5.889

Piven, 1997, Cognitive deficits in parents from multiple-incidence autism families, J Child Psychol Psychiatry, 38, 1011, 10.1111/j.1469-7610.1997.tb01618.x

Piven, 1999, Psychiatric disorder and the broad autism phenotype: evidence from a family study of multiple-incidence autism families, Am J Psychiatry, 156, 557, 10.1176/ajp.156.4.557

Constantino, 2003, Autistic traits in the general populations: a twin study, Arch Gen Psychiatry, 60, 524, 10.1001/archpsyc.60.5.524

Ronald, 2006, Genetic heterogeneity between the three components of the autism spectrum: a twin study, J Am Acad Child Adolesc Psychiatry, 45, 691, 10.1097/01.chi.0000215325.13058.9d

Hutsler, 2006, Histological and magnetic resonance imaging assessment of cortical layering and thickness in autism spectrum disorders, Biol Psychiatry

Casanova, 2006, Minicolumnar abnormalities in autism, Acta Neuropathol (Berl), 112, 287, 10.1007/s00401-006-0085-5

Buxhoeveden, 2006, Reduced minicolumns in the frontal cortex of patients with autism, Neuropathol Appl Neurobiol, 32, 483, 10.1111/j.1365-2990.2006.00745.x

Schumann, 2006, Stereological analysis of amygdala neuron number in autism, J Neurosci, 26, 7674, 10.1523/JNEUROSCI.1285-06.2006

Lainhart, 2006, Head circumference and height in autism: a study by the collaborative program of excellence in autism, Am J Med Genet A, 140, 2257, 10.1002/ajmg.a.31465

Lainhart, 1997, Macrocephaly in children and adults with autism, J Am Acad Child Adolesc Psychiatry, 36, 282, 10.1097/00004583-199702000-00019

Fombonne, 1999, Microcephaly and macrocephaly in autism, J Autism Dev Disord, 29, 113, 10.1023/A:1023036509476

Hazlett, 2006, Cortical gray and white brain tissue volume in adolescents and adults with autism, Biol Psychiatry, 59, 1, 10.1016/j.biopsych.2005.06.015

Herbert, 2004, Localization of white matter volume increase in autism and developmental language disorder, Ann Neurol, 55, 530, 10.1002/ana.20032

Hardan, 2006, An MRI study of increased cortical thickness in autism, Am J Psychiatry, 163, 1290, 10.1176/appi.ajp.163.7.1290

Carper, 2005, Localized enlargement of the frontal cortex in early autism, Biol Psychiatry, 57, 126, 10.1016/j.biopsych.2004.11.005

Just, 2007, Functional and anatomical cortical underconnectivity in autism: evidence from an fMRI study of an executive function task and corpus callosum morphometry, Cereb Cortex, 10.1093/cercor/bhl006

Shaw, 2006, Intellectual ability and cortical development in children and adolescents, Nature, 440, 676, 10.1038/nature04513

Zoghbi, 2003, Postnatal neurodevelopmental disorders: meeting at the synapse?, Science, 302, 826, 10.1126/science.1089071

Williams, 2006, Neuropsychological functioning in children with autism: further evidence for disordered complex information processing, Child Neuropsychol, 12, 279, 10.1080/09297040600681190

Minshew, 1997, Neuropsychologic functioning in autism: profile of a complex information processing disorder, J Int Neuropsychol Soc, 3, 303, 10.1017/S1355617797003032

Courchesne, 2005, Autism at the beginning: microstructural and growth abnormalities underlying the cognitive and behavioral phenotype of autism, Dev Psychopathol, 17, 577, 10.1017/S0954579405050285

Mundy, 2003, Annotation: the neural basis of social impairments in autism: the role of the dorsal medial-frontal cortex and anterior cingulate system, J Child Psychol Psychiatry, 44, 793, 10.1111/1469-7610.00165

Kana, 2006, Sentence comprehension in autism: thinking in pictures with decreased functional connectivity, Brain, 129, 2484, 10.1093/brain/awl164

Just, 2004, Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity, Brain, 127, 1811, 10.1093/brain/awh199

Koshino, 2005, Functional connectivity in an fMRI working memory task in high-functioning autism, Neuroimage, 24, 810, 10.1016/j.neuroimage.2004.09.028

Ozonoff, 1999, Autism and autistic behavior in Joubert syndrome, J Child Neurol, 14, 636, 10.1177/088307389901401003

Knudsen, 2004, Sensitive periods in the development of brain and behavior, J Cogn Neurosci, 16, 1412, 10.1162/0898929042304796

Hammock, 2006, The discipline of neurobehavioral development: the emerging interface that builds processes and skills, Hum Dev, 49, 294, 10.1159/000095581

Hensch, 2005, Critical period of plasticity in local cortical circuits, Nat Rev Neurosci, 6, 877, 10.1038/nrn1787

Hensch, 2004, Columnar architecture sculpted by GABA circuits in developing cat visual cortex, Science, 303, 1678, 10.1126/science.1091031

Price, 2006, The development of cortical connections, Eur J Neurosci, 23, 910, 10.1111/j.1460-9568.2006.04620.x

Cobos, 2005, Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy, Nat Neurosci, 8, 1059, 10.1038/nn1499

Powell, 2003, Genetic disruption of cortical interneuron development causes region- and GABA cell type-specific deficits, epilepsy, and behavioral dysfunction, J Neurosci, 23, 622, 10.1523/JNEUROSCI.23-02-00622.2003

Geschwind, 2002, Heritability of lobar brain volumes in twins supports genetic models of cerebral laterality and handedness, Proc Natl Acad Sci USA, 99, 3176, 10.1073/pnas.052494999

Persico, 2006, Searching for ways out of the autism maze: genetic, epigenetic and environmental clues, Trends Neurosci, 29, 349, 10.1016/j.tins.2006.05.010

Duvall JA, Cantor RM, Todd RD, Constantino JN, Geschwind DH: A quantitative trait locus analysis of social responsiveness in multiplex autism families.Am J Psychiatry 2006, (in press).

Spence SJ, Kono N, Geschwind DH, Cantor RM: A QTL analysis of macrocephaly in autism families [abstract 2040]. Presented at the annual meeting of The American Society of Human Genetics, October 2005, Salt Lake City, Utah (http://www.ashg.org/genetics/ashg05s/)

Shao, 2003, Fine mapping of autistic disorder to chromosome 15q11–q13 by use of phenotype subtypes, Am J Hum Genet, 72, 539, 10.1086/367846

Jamain, 2003, Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism, Nat Genet, 34, 27, 10.1038/ng1136

Duvall JA, Stone JL, Cantor RM, Nelson SF, Geschwind DH: Independent replication of autism association in several neuronal connectivity genes [abstract 1652]. Presented at the annual meeting of The American Society of Human Genetics, October 2006, New Orleans, Louisiana (http://www.ashg.org/genetics/ashg06s/)

Laumonnier, 2004, X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family, Am J Hum Genet, 74, 552, 10.1086/382137

Strauss, 2006, Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2, N Engl J Med, 354, 1370, 10.1056/NEJMoa052773

Durand, 2007, Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders, Nat Genet, 39, 25, 10.1038/ng1933

Grossman, 2006, Local protein synthesis and spine morphogenesis: Fragile X syndrome and beyond, J Neurosci, 26, 7151, 10.1523/JNEUROSCI.1790-06.2006

Kanold, 2006, Subplate neurons regulate maturation of cortical inhibition and outcome of ocular dominance plasticity, Neuron, 51, 627, 10.1016/j.neuron.2006.07.008

Persico, 2001, Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder, Mol Psychiatry, 6, 150, 10.1038/sj.mp.4000850

Serajee, 2006, Association of Reelin gene polymorphisms with autism, Genomics, 87, 75, 10.1016/j.ygeno.2005.09.008

Skaar, 2005, Analysis of the RELN gene as a genetic risk factor in autism, Mol Psychiatry, 10, 563, 10.1038/sj.mp.4001614

Devlin, 2004, Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network, Am J Med Genet B Neuropsychiatr Genet, 126, 46, 10.1002/ajmg.b.20125

Campbell, 2006, A genetic variant that disrupts MET transcription is associated with autism, Proc Natl Acad Sci USA, 103, 16834, 10.1073/pnas.0605296103

Ieraci, 2002, Viable hypomorphic signaling mutant of the Met receptor reveals a role for hepatocyte growth factor in postnatal cerebellar development, Proc Natl Acad Sci USA, 99, 15200, 10.1073/pnas.222362099

Eagleson, 2005, Region- and age-specific deficits in gamma-aminobutyric acidergic neuron development in the telencephalon of the uPAR−/− mouse, J Comp Neurol, 489, 449, 10.1002/cne.20647

Powell, 2001, Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon, Neuron, 30, 79, 10.1016/S0896-6273(01)00264-1

Gutierrez, 2004, HGF regulates the development of cortical pyramidal dendrites, Development, 131, 3717, 10.1242/dev.01209

Levitt, 2005, Disruption of interneuron development, Epilepsia, 46, 22, 10.1111/j.1528-1167.2005.00305.x

Preuss, 2000, Taking measure of diversity: comparative alternatives to the model-animal paradigm in cortical neuroscience, Brain Behav Evol, 55, 287, 10.1159/000006664

Casanova, 2002, Minicolumn pathology in autism, Neurology, 58, 428, 10.1212/WNL.58.3.428