Advances in autism.

Autism is a common childhood neurodevelopmental disorder with strong genetic liability. It is not a unitary entity but a clinical syndrome, with variable deficits in social behavior and language, restrictive interests, and repetitive behaviors. Recent advances in the genetics of autism emphasize its etiological heterogeneity, with each genetic susceptibility locus accounting for only a small fraction of cases or having a small effect. Therefore, it is not surprising that no unifying structural or neuropathological features have been conclusively identified. Given the heterogeneity of autism spectrum disorder (ASD), approaches based on studying heritable components of the disorder, or endophenotypes, such as language or social cognition, provide promising avenues for genetic and neurobiological investigations. Early intensive behavioral and cognitive interventions are efficacious in many cases, but autism does not remit in the majority of children. Therefore, development of targeted therapies based on pathophysiologically and etiologically defined subtypes of ASD remains an important and achievable goal of current research.

[1]  Mayada Elsabbagh,et al.  In search of biomarkers for autism: scientific, social and ethical challenges , 2011, Nature Reviews Neuroscience.

[2]  H. Roeyers,et al.  Parenting in families with a child with autism spectrum disorder and a typically developing child: Mothers’ experiences and cognitions , 2010 .

[3]  W. Mak,et al.  Internalization of stigma for parents of children with autism spectrum disorder in Hong Kong. , 2010, Social science & medicine.

[4]  A. Slade Mentalizing the Unmentalizable: Parenting Children on the Spectrum , 2009 .

[5]  D. Geschwind,et al.  A functional genetic link between distinct developmental language disorders. , 2008, The New England journal of medicine.

[6]  D. Geschwind Autism: Many Genes, Common Pathways? , 2008, Cell.

[7]  T. Kemper,et al.  The neuropathology of the autism spectrum disorders: what have we learned? , 2008, Novartis Foundation symposium.

[8]  Alcino J. Silva,et al.  Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis , 2008, Nature Medicine.

[9]  G. Baird,et al.  Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample. , 2008, Journal of the American Academy of Child and Adolescent Psychiatry.

[10]  Declan G. M. Murphy,et al.  Altered cerebellar feedback projections in Asperger syndrome , 2008, NeuroImage.

[11]  V. Preedy,et al.  Diagnostic and Statistical Manual of Mental Disorders , 2010 .

[12]  I. Hertz-Picciotto,et al.  Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population‐based study , 2008, Journal of sleep research.

[13]  Philip Shaw,et al.  Trajectories of anatomic brain development as a phenotype. , 2008, Novartis Foundation symposium.

[14]  D. Geschwind,et al.  Advances in autism genetics: on the threshold of a new neurobiology , 2008, Nature Reviews Genetics.

[15]  S. Rogers,et al.  Evidence-Based Comprehensive Treatments for Early Autism , 2008, Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53.

[16]  D. Amaral,et al.  Neuroanatomy of autism , 2008, Trends in Neurosciences.

[17]  Joshua M. Korn,et al.  Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.

[18]  D. Pinto,et al.  Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.

[19]  R. Landa,et al.  Diagnosis of autism spectrum disorders in the first 3 years of life , 2008, Nature Clinical Practice Neurology.

[20]  A. Carter,et al.  Parenting Stress in Mothers and Fathers of Toddlers with Autism Spectrum Disorders: Associations with Child Characteristics , 2008, Journal of autism and developmental disorders.

[21]  J. Sebat,et al.  Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. , 2008, American journal of human genetics.

[22]  M. Brimacombe,et al.  Autism Spectrum Disorders: Concurrent Clinical Disorders , 2008, Journal of child neurology.

[23]  Mark F. Bear,et al.  Correction of Fragile X Syndrome in Mice , 2007, Neuron.

[24]  John D. Lambris,et al.  The Classical Complement Cascade Mediates CNS Synapse Elimination , 2007, Cell.

[25]  D. Geschwind,et al.  Genome-wide analyses of human perisylvian cerebral cortical patterning , 2007, Proceedings of the National Academy of Sciences.

[26]  Daniel P. Kennedy,et al.  Mapping Early Brain Development in Autism , 2007, Neuron.

[27]  D. V. van Essen,et al.  Cortical Folding Abnormalities in Autism Revealed by Surface-Based Morphometry , 2007, The Journal of Neuroscience.

[28]  M. Brimacombe,et al.  Prevalence of motor impairment in autism spectrum disorders , 2007, Brain and Development.

[29]  M. Casanova,et al.  The Neuropathology of Autism , 2007, Brain pathology.

[30]  T. Frayling Genome–wide association studies provide new insights into type 2 diabetes aetiology , 2007, Nature Reviews Genetics.

[31]  Stephen T Warren,et al.  Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. , 2007, Human molecular genetics.

[32]  C. Lajonchere,et al.  Paternal age and autism are associated in a family-based sample , 2007, Molecular Psychiatry.

[33]  Judith Gould,et al.  Describing the Sensory Abnormalities of Children and Adults with Autism , 2007, Journal of autism and developmental disorders.

[34]  Kenny Q. Ye,et al.  Strong Association of De Novo Copy Number Mutations with Autism , 2007, Science.

[35]  A. Lu,et al.  A quantitative trait locus analysis of social responsiveness in multiplex autism families. , 2007, The American journal of psychiatry.

[36]  Bruce Fireman,et al.  Maternal and paternal age and risk of autism spectrum disorders. , 2007, Archives of pediatrics & adolescent medicine.

[37]  Thomas Bourgeron,et al.  Mapping autism risk loci using genetic linkage and chromosomal rearrangements , 2007, Nature Genetics.

[38]  A. Bird,et al.  Reversal of Neurological Defects in a Mouse Model of Rett Syndrome , 2007, Science.

[39]  D. Geschwind,et al.  Autism spectrum disorders: developmental disconnection syndromes , 2007, Current Opinion in Neurobiology.

[40]  A. Bessis,et al.  Microglial control of neuronal death and synaptic properties , 2007, Glia.

[41]  W. Stone,et al.  Characterizing sleep in children with autism spectrum disorders: a multidimensional approach. , 2006, Sleep.

[42]  F. Happé,et al.  Time to give up on a single explanation for autism , 2006, Nature Neuroscience.

[43]  E Courchesne,et al.  Reduced minicolumns in the frontal cortex of patients with autism , 2006, Neuropathology and applied neurobiology.

[44]  Constructing Grounded Theory: A practical guide through qualitative analysis Kathy Charmaz Constructing Grounded Theory: A practical guide through qualitative analysis Sage 224 £19.99 0761973532 0761973532 [Formula: see text]. , 2006, Nurse researcher.

[45]  A. Carter,et al.  Maternal self-efficacy and associated parenting cognitions among mothers of children with autism. , 2006, The American journal of orthopsychiatry.

[46]  Mark Weiser,et al.  Advancing paternal age and autism. , 2006, Archives of general psychiatry.

[47]  David G. Amaral,et al.  Stereological Analysis of Amygdala Neuron Number in Autism , 2006, The Journal of Neuroscience.

[48]  R Redon,et al.  Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders , 2006, Journal of Medical Genetics.

[49]  Linyan Meng,et al.  Pervasive Developmental Disorders in Montreal, Quebec, Canada: Prevalence and Links With Immunizations , 2006, Pediatrics.

[50]  P. Bolton,et al.  Genetic heterogeneity between the three components of the autism spectrum: a twin study. , 2006, Journal of the American Academy of Child and Adolescent Psychiatry.

[51]  G. Dawson,et al.  Is There a ‘Regressive Phenotype’ of Autism Spectrum Disorder Associated with the Measles-Mumps-Rubella Vaccine? A CPEA Study , 2006, Journal of autism and developmental disorders.

[52]  John L.R. Rubenstein,et al.  Understanding Autism : From Basic Neuroscience to Treatment , 2006 .

[53]  Stewart H. Mostofsky,et al.  Motor Signs Distinguish Children with High Functioning Autism and Asperger’s Syndrome from Controls , 2006, Journal of autism and developmental disorders.

[54]  Alan C. Evans,et al.  Intellectual ability and cortical development in children and adolescents , 2006, Nature.

[55]  C. Lajonchere,et al.  Autistic social impairment in the siblings of children with pervasive developmental disorders. , 2006, The American journal of psychiatry.

[56]  E. Brink,et al.  Constructing grounded theory : A practical guide through qualitative analysis , 2006 .

[57]  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.

[58]  S. Baron-Cohen,et al.  Autism: a window onto the development of the social and the analytic brain. , 2005, Annual review of neuroscience.

[59]  Christopher Gillberg,et al.  Autism after Adolescence: Population-based 13- to 22-year Follow-up Study of 120 Individuals with Autism Diagnosed in Childhood , 2005, Journal of autism and developmental disorders.

[60]  P. Mortensen,et al.  Risk factors for autism: perinatal factors, parental psychiatric history, and socioeconomic status. , 2005, American journal of epidemiology.

[61]  G. Baird,et al.  Outcome at 7 years of children diagnosed with autism at age 2: predictive validity of assessments conducted at 2 and 3 years of age and pattern of symptom change over time. , 2005, Journal of child psychology and psychiatry, and allied disciplines.

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

[63]  Robert T. Jiménez,et al.  Qualitative Studies in Special Education , 2005 .

[64]  C. McDougle,et al.  Brief Report: Autistic Disorder in Three Children with Cytomegalovirus Infection , 2004, Journal of autism and developmental disorders.

[65]  M. Rutter,et al.  Adult outcome for children with autism. , 2004, Journal of child psychology and psychiatry, and allied disciplines.

[66]  P. Mundy Annotation: the neural basis of social impairments in autism: the role of the dorsal medial-frontal cortex and anterior cingulate system. , 2003, Journal of child psychology and psychiatry, and allied disciplines.

[67]  Ruth A. Carper,et al.  Evidence of brain overgrowth in the first year of life in autism. , 2003, JAMA.

[68]  Arthur W Toga,et al.  Cortical sulcal maps in autism. , 2003, Cerebral cortex.

[69]  R. Tuchman,et al.  Epilepsy in autism , 2002, The Lancet Neurology.

[70]  Pär Sparén,et al.  Perinatal Risk Factors for Infantile Autism , 2002, Epidemiology.

[71]  Andrew Pickles,et al.  Association between idiopathic infantile macrocephaly and autism spectrum disorders , 2001, The Lancet.

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

[73]  J H Miles,et al.  Head circumference is an independent clinical finding associated with autism. , 2000, American journal of medical genetics.

[74]  S. Bryson,et al.  Two-year outcome of preschool children with autism or Asperger's syndrome. , 2000, The American journal of psychiatry.

[75]  C. Gillberg and,et al.  Autism and Asperger syndrome: coexistence with other clinical disorders , 2000, Acta psychiatrica Scandinavica.

[76]  J. Crow The origins, patterns and implications of human spontaneous mutation , 2000, Nature Reviews Genetics.

[77]  P Bolton,et al.  Variable expression of the autism broader phenotype: findings from extended pedigrees. , 2000, Journal of child psychology and psychiatry, and allied disciplines.

[78]  E. Fombonne,et al.  Microcephaly and Macrocephaly in Autism , 1999, Journal of autism and developmental disorders.

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

[80]  E. Fombonne,et al.  Autism and associated medical disorders in a French epidemiological survey. , 1997, Journal of the American Academy of Child and Adolescent Psychiatry.

[81]  P. Bolton,et al.  A family study of autism: cognitive patterns and levels in parents and siblings. , 1997, Journal of child psychology and psychiatry, and allied disciplines.

[82]  A Pickles,et al.  A broader phenotype of autism: the clinical spectrum in twins. , 1996, Journal of child psychology and psychiatry, and allied disciplines.

[83]  P Bolton,et al.  A case-control family history study of autism. , 1994, Journal of child psychology and psychiatry, and allied disciplines.

[84]  C. Lord,et al.  A follow-up study of high-functioning autistic children. , 1992, Journal of child psychology and psychiatry, and allied disciplines.

[85]  I M Smith,et al.  First report of a Canadian epidemiological study of autistic syndromes. , 1988, Journal of child psychology and psychiatry, and allied disciplines.

[86]  C. Gillberg,et al.  CHROMOSOME ABNORMALITIES IN INFANTILE AUTISM AND OTHER CHILDHOOD PSYCHOSES: A POPULATION STUDY OF 66 CASES , 1985, Developmental medicine and child neurology.

[87]  M. Rutter,et al.  Families of autistic and dysphasic children. I. Family life and interaction patterns. , 1979, Archives of general psychiatry.

[88]  L. Wing,et al.  Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification , 1979, Journal of autism and developmental disorders.

[89]  S. Folstein,et al.  Infantile autism: a genetic study of 21 twin pairs. , 1977, Journal of child psychology and psychiatry, and allied disciplines.

[90]  L. Wing,et al.  The prevalence of early childhood autism: comparison of administrative and epidemiological studies , 1976, Psychological Medicine.

[91]  M. Rutter,et al.  The development of infantile autism , 1974, Psychological Medicine.

[92]  S. Eikeseth Outcome of comprehensive psycho-educational interventions for young children with autism. , 2009, Research in developmental disabilities.

[93]  C. Gillberg,et al.  Asperger Syndrome and Autism: A Comparative Longitudinal Follow-Up Study More than 5 Years after Original Diagnosis , 2008, Journal of autism and developmental disorders.

[94]  I. Hertz-Picciotto,et al.  Regression in autism: prevalence and associated factors in the CHARGE Study. , 2008, Ambulatory pediatrics : the official journal of the Ambulatory Pediatric Association.

[95]  D. Geschwind,et al.  Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. , 2002, American journal of human genetics.

[96]  P. Coleman,et al.  Parenting Self-Efficacy among Mothers of School-Age Children: Conceptualization, Measurement, and Correlates , 2000 .

[97]  S Arndt,et al.  Broader autism phenotype: evidence from a family history study of multiple-incidence autism families. , 1997, The American journal of psychiatry.

[98]  F. Volkmar,et al.  Seizure disorders in autism. , 1990, Journal of the American Academy of Child and Adolescent Psychiatry.

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

[100]  C. Gillberg,et al.  Infantile autism and the fragile X. A Swedish multicenter study. , 1986, American journal of medical genetics.

[101]  C. Gillberg,et al.  The biology of the autistic syndromes , 1985 .

[102]  B. Freeman,et al.  Concordance for the syndrome of autism in 40 pairs of afflicted twins. , 1985, The American journal of psychiatry.

[103]  A. Bandura Self-efficacy mechanism in human agency. , 1982 .

[104]  M. Coleman Studies of the autistic syndromes. , 1979, Research publications - Association for Research in Nervous and Mental Disease.

[105]  E. Friedman The "autistic syndrome" and phenylketonuria. , 1969 .

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

[107]  M. Just,et al.  From the Selectedworks of Marcel Adam Just Functional and Anatomical Cortical Underconnectivity in Autism: Evidence from an Fmri Study of an Executive Function Task and Corpus Callosum Morphometry , 2022 .