Autism spectrum disorders: clinical and research frontiers

Autism spectrum disorders (ASD) are common neurodevelopmental disorders that occur along a broad continuum of severity with impairments in social interactions, communication and behaviour. This review highlights recent advances in autism research that shed light on the causes of the disorder and that have implications for clinical practice. It focuses on (1) the rising prevalence of ASD with attention given to recent epidemiological studies, (2) important genetic discoveries that may affect clinical evaluation of children with ASD, (3) active areas of research in cognitive neuroscience that seek to explain the underlying mechanisms of a complex disorder and (4) important studies on clinical populations with implications for screening and early identification of infants and toddlers with ASD.

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

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

[3]  M. Wiznitzer,et al.  AIDS and the Nervous System , 1988, Neurology.

[4]  H. Asperger,et al.  'Autistic psychopathy' in childhood. , 1991 .

[5]  G. Rizzolatti,et al.  Action recognition in the premotor cortex. , 1996, Brain : a journal of neurology.

[6]  S Arndt,et al.  Regional brain enlargement in autism: a magnetic resonance imaging study. , 1996, Journal of the American Academy of Child and Adolescent Psychiatry.

[7]  D. Povinelli,et al.  Mindblindness. An Essay on Autism and Theory of Mind Simon Baron-Cohen 1995 , 1996, Trends in Neurosciences.

[8]  B. Leventhal,et al.  Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. , 1997, American journal of human genetics.

[9]  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.

[10]  C. Moore,et al.  Targets and cues: gaze-following in children with autism. , 1998, Journal of child psychology and psychiatry, and allied disciplines.

[11]  C. Gillberg Prevalence of Disorders in the Autism Spectrum. , 1999 .

[12]  J. Fryns,et al.  The neurobiology of autism. , 1999, Genetic counseling.

[13]  J. Mazziotta,et al.  Cortical mechanisms of human imitation. , 1999, Science.

[14]  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.

[15]  P. Bolton,et al.  Personality traits of the relatives of autistic probands , 2000, Psychological Medicine.

[16]  G. Dawson,et al.  Practice parameter: Screening and diagnosis of autism , 2000, Neurology.

[17]  D. Anxiety Development of Siblings of Children , 2001 .

[18]  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.

[19]  J. Piven,et al.  Visual Scanning of Faces in Autism , 2002, Journal of autism and developmental disorders.

[20]  Tony Charman,et al.  Practitioner review: Diagnosis of autism spectrum disorder in 2- and 3-year-old children. , 2002, Journal of child psychology and psychiatry, and allied disciplines.

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

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

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

[24]  Alison Taylor Making a diagnosis , 2003, BMJ : British Medical Journal.

[25]  J. Soares,et al.  Brain anatomy and development in autism: review of structural MRI studies , 2003, Brain Research Bulletin.

[26]  C. Rice,et al.  Prevalence of autism in a US metropolitan area. , 2003, JAMA.

[27]  G. Baird,et al.  Diagnosis of autism , 2003, BMJ : British Medical Journal.

[28]  Patricia Howlin,et al.  Outcome in High-Functioning Adults with Autism with and Without Early Language Delays: Implications for the Differentiation Between Autism and Asperger Syndrome , 2003, Journal of autism and developmental disorders.

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

[30]  G. Rizzolatti,et al.  A unifying view of the basis of social cognition , 2004, Trends in Cognitive Sciences.

[31]  Sallie Bernard Association between thimerosal-containing vaccine and autism. , 2004, JAMA.

[32]  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.

[33]  I. Moilanen,et al.  Associated Medical Disorders and Disabilities in Children with Autistic Disorder , 2004, Autism : the international journal of research and practice.

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

[35]  Bernard Rimland,et al.  Association between thimerosal-containing vaccine and autism. , 2003, JAMA.

[36]  Moo K. Chung,et al.  Less white matter concentration in autism: 2D voxel-based morphometry , 2004, NeuroImage.

[37]  M. Rutter Genetic Influences and Autism , 2005 .

[38]  D. Murphy,et al.  Autistic-spectrum disorders: lessons from neuroimaging , 2005, British Journal of Psychiatry.

[39]  F. Volkmar,et al.  Autism in infancy and early childhood. , 2005, Annual review of psychology.

[40]  J. Suckling,et al.  Mapping the brain in autism. A voxel-based MRI study of volumetric differences and intercorrelations in autism. , 2004, Brain : a journal of neurology.

[41]  Lorna Wing,et al.  The definition and prevalence of autism: A review , 2005, European Child & Adolescent Psychiatry.

[42]  T. Kemper,et al.  Neuroanatomic observations of the brain in autism: a review and future directions , 2005, International Journal of Developmental Neuroscience.

[43]  G. Blatt GABAergic cerebellar system in autism: a neuropathological and developmental perspective. , 2005, International review of neurobiology.

[44]  Eric Fombonne,et al.  Pervasive developmental disorders in preschool children: confirmation of high prevalence. , 2005, The American journal of psychiatry.

[45]  E. Fombonne Epidemiological Studies of Pervasive Developmental Disorders , 2005 .

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

[47]  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.

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

[49]  G. Baird,et al.  Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP) , 2006, The Lancet.

[50]  B. Taylor Vaccines and the changing epidemiology of autism. , 2006, Child: care, health and development.

[51]  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.

[52]  N. Sasson The Development of Face Processing in Autism , 2006, Journal of autism and developmental disorders.

[53]  Geraldine Dawson,et al.  Head circumference and height in autism: A study by the collaborative program of excellence in autism , 2006, American journal of medical genetics. Part A.

[54]  G. Baird,et al.  Medical investigation of children with autistic spectrum disorders. , 2006, Child: care, health and development.

[55]  J P T Higgins,et al.  Systematic review of prevalence studies of autism spectrum disorders , 2005, Archives of Disease in Childhood.

[56]  P. Shattuck The Contribution of Diagnostic Substitution to the Growing Administrative Prevalence of Autism in US Special Education , 2006, Pediatrics.

[57]  G. B. Schaefer,et al.  Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders , 2006, Genetics in medicine : official journal of the American College of Medical Genetics.

[58]  S. Baron-Cohen Two new theories of autism: hyper-systemising and assortative mating , 2005, Archives of Disease in Childhood.

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

[60]  Tom Johnstone,et al.  Amygdala Volume and Nonverbal Social Impairment in Adolescent and Adult Males with Autism , 2022 .

[61]  S. Ozonoff,et al.  The Very Early Autism Phenotype , 2007 .

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

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

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

[65]  E. Bullmore,et al.  Differential activation of the amygdala and the ‘social brain’ during fearful face-processing in Asperger Syndrome , 2007, Neuropsychologia.

[66]  Kim M. Dalton,et al.  Gaze-Fixation, Brain Activation, and Amygdala Volume in Unaffected Siblings of Individuals with Autism , 2007, Biological Psychiatry.

[67]  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.

[68]  A. Le Couteur,et al.  How to diagnose autism , 2007, Archives of Disease in Childhood.

[69]  C. Freitag,et al.  The genetics of autistic disorders and its clinical relevance: a review of the literature , 2007, Molecular Psychiatry.

[70]  J. Baio,et al.  Prevalence of Autism Spectrum Disorders: Autism and Developmental Disabilities Monitoring Network, United States, 2006. Morbidity and Mortality Weekly Report. Surveillance Summaries. Volume 58, Number SS-10. , 2009 .

[71]  Elizabeth Garrett-Mayer,et al.  Social and communication development in toddlers with early and later diagnosis of autism spectrum disorders. , 2007, Archives of general psychiatry.

[72]  V. Ramachandran,et al.  The simulating social mind: the role of the mirror neuron system and simulation in the social and communicative deficits of autism spectrum disorders. , 2007, Psychological bulletin.

[73]  T. Uchiyama,et al.  MMR-Vaccine and Regression in Autism Spectrum Disorders: Negative Results Presented from Japan , 2007, Journal of autism and developmental disorders.

[74]  G. Baranek,et al.  The First Year Inventory: Retrospective Parent Responses to a Questionnaire Designed to Identify One-Year-Olds at Risk for Autism , 2007, Journal of autism and developmental disorders.

[75]  K. McBride,et al.  Genetic testing in autism: how much is enough? , 2007, Genetics in Medicine.

[76]  Agata Rozga,et al.  A prospective study of response to name in infants at risk for autism. , 2007, Archives of pediatrics & adolescent medicine.

[77]  C. Johnson,et al.  Identification and Evaluation of Children With Autism Spectrum Disorders , 2007, Pediatrics.

[78]  Jessica Brian,et al.  A Prospective Case Series of High-risk Infants who Developed Autism , 2007, Journal of autism and developmental disorders.

[79]  Julie Daniels,et al.  The epidemiology of autism spectrum disorders. , 2007, Annual review of public health.

[80]  G. B. Schaefer,et al.  Genetics evaluation for the etiologic diagnosis of autism spectrum disorders , 2008, Genetics in Medicine.

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

[82]  Geraldine Dawson,et al.  Head Circumference as an Early Predictor of Autism Symptoms in Younger Siblings of Children with Autism Spectrum Disorder , 2008, Journal of autism and developmental disorders.

[83]  Evan E. Eichler,et al.  A hot spot of genetic instability in autism. , 2008, The New England journal of medicine.

[84]  H. Faras,et al.  Autism spectrum disorders , 2010, Annals of Saudi medicine.