Autism spectrum disorder: screening, diagnosis, and medical evaluation.

Autism spectrum disorder (ASD) are a group of behaviorally defined neurodevelopmental disabilities with core deficits in socialization, communication, and behavior, although the presentation can be extremely variable. This article describes the core deficits in ASD, as well as the differential diagnosis and the more commonly associated comorbid disorders. The importance of early diagnosis is emphasized, and screening and assessment tools are reviewed. Finally, the role of the pediatric neurologist is discussed with regard to specific components of the evaluation, including history, physical examination, and ancillary testing.

[1]  E. Jellum,et al.  Childhood autism: the need for physical investigations , 1998, Brain and Development.

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

[3]  S. Selvin,et al.  The Changing Prevalence of Autism in California , 2002, Journal of autism and developmental disorders.

[4]  Annemarie Poustka,et al.  Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients , 1997, Human Genetics.

[5]  C. Gillberg,et al.  AUTISM AND MEDICAL DISORDERS: A REVIEW OF THE LITERATURE , 1996, Developmental medicine and child neurology.

[6]  Tony Charman,et al.  Psychological Markers in the Detection of Autism in Infancy in a Large Population , 1996, British Journal of Psychiatry.

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

[8]  A. Klin Auditory brainstem responses in autism: Brainstem dysfunction or peripheral hearing loss? , 1993, Journal of autism and developmental disorders.

[9]  D. Stapells,et al.  Estimation of the pure-tone audiogram by the auditory brainstem response: a review. , 1997, Audiology & neuro-otology.

[10]  W. Stone,et al.  Brief Report: Screening Tool for Autism in Two-Year-Olds (STAT): Development and Preliminary Data , 2000, Journal of autism and developmental disorders.

[11]  R. Tuchman,et al.  Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates. , 1997, Pediatrics.

[12]  S. Folstein,et al.  The prevalence of fragile X in a sample of autistic individuals diagnosed using a standardized interview. , 1991, Journal of the American Academy of Child and Adolescent Psychiatry.

[13]  T. L. Eckert,et al.  Preschool children with attention-deficit/hyperactivity disorder: impairments in behavioral, social, and school functioning. , 2001, Journal of the American Academy of Child and Adolescent Psychiatry.

[14]  S. Folstein,et al.  Predictors of Cognitive Test Patterns in Autism Families , 1999 .

[15]  J Fermanian,et al.  Validation of the Revised Behavior Summarized Evaluation Scale , 1997, Journal of autism and developmental disorders.

[16]  M. Cuccaro,et al.  Autism and maternally derived aberrations of chromosome 15q. , 1998, American journal of medical genetics.

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

[18]  R. Hastings,et al.  Features of Autism in Rett Syndrome and Severe Mental Retardation , 2003, Journal of autism and developmental disorders.

[19]  A. Couteur,et al.  Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders , 1994, Journal of autism and developmental disorders.

[20]  S. Rogers,et al.  Can the checklist for autism in toddlers differentiate young children with autism from those with developmental delays? , 2001, Journal of the American Academy of Child and Adolescent Psychiatry.

[21]  Sheena Reilly,et al.  The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome. , 2002, Journal of child psychology and psychiatry, and allied disciplines.

[22]  F. Volkmar,et al.  Practice parameters for the assessment and treatment of children, adolescents, and adults with autism and other pervasive developmental disorders. American Academy of Child and Adolescent Psychiatry Working Group on Quality Issues. , 1999, Journal of the American Academy of Child and Adolescent Psychiatry.

[23]  A. Bailey,et al.  Autism: The Phenotype in Relatives , 1998, Journal of autism and developmental disorders.

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

[25]  D. Cohen,et al.  Pica and elevated blood lead level in autistic and atypical children. , 1976, American journal of diseases of children.

[26]  Paola Visconti,et al.  EEG features and epilepsy in patients with autism , 1995, Brain and Development.

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

[28]  S. Folstein,et al.  Macrocephaly in children and adults with autism. , 1997, Journal of the American Academy of Child and Adolescent Psychiatry.

[29]  R. Tuchman,et al.  Autistic and dysphasic children. II: Epilepsy. , 1991, Pediatrics.

[30]  O. Mors,et al.  Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey. , 1999, Journal of child psychology and psychiatry, and allied disciplines.

[31]  Christopher Gillberg,et al.  Chromosomal Disorders and Autism , 1998, Journal of autism and developmental disorders.

[32]  A. Bailey,et al.  Head circumference in autism and other pervasive developmental disorders. , 1996, Journal of child psychology and psychiatry, and allied disciplines.

[33]  M. Wiznitzer Autism and Tuberous Sclerosis , 2004, Journal of child neurology.

[34]  M. Cuccaro,et al.  Identification of MeCP2 mutations in a series of females with autistic disorder. , 2003, Pediatric neurology.

[35]  S. Hepburn,et al.  Parent Reports of Sensory Symptoms in Toddlers with Autism and Those with Other Developmental Disorders , 2003, Journal of autism and developmental disorders.

[36]  P. Bolton,et al.  Autism, affective and other psychiatric disorders: patterns of familial aggregation , 1998, Psychological Medicine.

[37]  P. Decouflé,et al.  Prevalence of autism in a United States population: the Brick Township, New Jersey, investigation. , 2001, Pediatrics.

[38]  Svend Erik Mouridsen,et al.  Epilepsy in disintegrative psychosis and infantile autism: a long‐term validation study , 1999, Developmental medicine and child neurology.

[39]  W. Stone,et al.  A structured parent interview for identifying young children with autism , 1993, Journal of autism and developmental disorders.

[40]  A. Bailey,et al.  Autism as a strongly genetic disorder: evidence from a British twin study , 1995, Psychological Medicine.

[41]  M. Konstantareas,et al.  Chromosomal Abnormalities in a Series of Children with Autistic Disorder , 1999, Journal of autism and developmental disorders.

[42]  Elisa S. Shernoff,et al.  Utility of the Gilliam Autism Rating Scale in Research and Clinical Populations , 2002, Journal of autism and developmental disorders.

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

[44]  C. Gillberg,et al.  Epilepsy in autism and autisticlike conditions. A population-based study. , 1988, Archives of neurology.

[45]  S. Smalley,et al.  Autism in Tuberous Sclerosis Complex , 1998, Journal of autism and developmental disorders.

[46]  A. Federico,et al.  MECP2 mutation in male patients with non‐specific X‐linked mental retardation , 2000, FEBS letters.

[47]  D. Geschwind,et al.  Autism Screening and Diagnostic Evaluation: CAN Consensus Statement , 1998, CNS Spectrums.

[48]  G. Baird,et al.  A screening instrument for autism at 18 months of age: a 6-year follow-up study. , 2000, Journal of the American Academy of Child and Adolescent Psychiatry.

[49]  A. Bailey,et al.  Prevalence of the fragile X anomaly amongst autistic twins and singletons. , 1993, Journal of child psychology and psychiatry, and allied disciplines.

[50]  E. Schopler,et al.  Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS) , 1980, Journal of autism and developmental disorders.

[51]  R. Tuchman,et al.  Epilepsy and epileptiform EEG: association with autism and language disorders. , 2000, Mental retardation and developmental disabilities research reviews.

[52]  J. Piven,et al.  Chromosomal abnormalities in a clinic sample of individuals with autistic disorder , 2001, Psychiatric genetics.

[53]  I. Rapin,et al.  The autistic-spectrum disorders. , 1999, The New England journal of medicine.

[54]  R. Tuchman,et al.  HEARING‐IMPAIRED AUTISTIC CHILDREN , 1991, Developmental medicine and child neurology.

[55]  W. Stone,et al.  The Parent Interview for Autism-Clinical Version (PIA-CV) , 2003, Autism : the international journal of research and practice.

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

[57]  G. Baird,et al.  Commentary: The Modified Checklist for Autism in Toddlers , 2001, Journal of autism and developmental disorders.

[58]  S. Goldstein Review of the Asperger Syndrome Diagnostic Scale , 2002, Journal of autism and developmental disorders.

[59]  T. Page Metabolic Approaches to the Treatment of Autism Spectrum Disorders , 2000, Journal of autism and developmental disorders.

[60]  M. Rutter,et al.  Genetics and child psychiatry: II Empirical research findings. , 1999, Journal of child psychology and psychiatry, and allied disciplines.

[61]  Can autism be detected at 18 months? The needle, the haystack, and the CHAT. , 1992, The British journal of psychiatry : the journal of mental science.

[62]  S. Leeder,et al.  A population based study , 1993, The Medical journal of Australia.

[63]  G A Chase,et al.  A family history study of neuropsychiatric disorders in the adult siblings of autistic individuals. , 1990, Journal of the American Academy of Child and Adolescent Psychiatry.

[64]  J. Leckman,et al.  Genetics and child psychiatry. , 1990, Journal of the American Academy of Child and Adolescent Psychiatry.

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

[66]  S. Steffenburg Neuropsychiatric Assessmenit of Children with Autism: A Population‐Based Study , 1991 .

[67]  A. Thornton,et al.  Clinical use of otoacoustic emissions in children with autism. , 1994, International journal of pediatric otorhinolaryngology.

[68]  S. Smalley,et al.  Autism and tuberous sclerosis , 1992, Journal of autism and developmental disorders.

[69]  A Pickles,et al.  Autism screening questionnaire: Diagnostic validity , 1999, British Journal of Psychiatry.

[70]  A. Parmeggiani,et al.  Epilepsy in adolescents and young adults with autistic disorder , 2000, Brain and Development.

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

[72]  J. Graef,et al.  Lead intoxication in children with pervasive developmental disorders. , 1996, Journal of toxicology. Clinical toxicology.

[73]  J. Gilbert,et al.  Three probands with autistic disorder and isodicentric chromosome 15. , 2000, American journal of medical genetics.

[74]  A. Bailey,et al.  Autism and known medical conditions: myth and substance. , 1994, Journal of child psychology and psychiatry, and allied disciplines.

[75]  R Kobayashi,et al.  Setback phenomenon in autism and longterm prognosis , 1998, Acta psychiatrica Scandinavica.

[76]  N. Minshew,et al.  Neurologic Aspects of Autism , 2005 .

[77]  S. Niwa,et al.  Brief Report: Electroencephalographic Paroxysmal Activities in the Frontal Area Emerged in Middle Childhood and During Adolescence in a Follow-up Study of Autism , 1997, Journal of autism and developmental disorders.

[78]  A. Sandler,et al.  Committee on Children With Disabilities The Pediatrician ’ s Role in the Diagnosis and Management of Autistic Spectrum Disorder in Children , 2001 .

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

[80]  J. Piven,et al.  Psychiatric disorder and the broad autism phenotype: evidence from a family study of multiple-incidence autism families. , 1999, The American journal of psychiatry.

[81]  G. Dawson,et al.  The Screening and Diagnosis of Autistic Spectrum Disorders , 1999 .

[82]  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.

[83]  P. Tanguay Pervasive developmental disorders: a 10-year review. , 2000, Journal of the American Academy of Child and Adolescent Psychiatry.

[84]  C. Thompson,et al.  Behavioural symptoms among people with severe and profound intellectual disabilities: A 26-year follow-up study , 2002, British Journal of Psychiatry.

[85]  S. Folstein,et al.  Psychiatric disorders in the parents of autistic individuals. , 1991, Journal of the American Academy of Child and Adolescent Psychiatry.

[86]  D. Robins,et al.  The Modified Checklist for Autism in Toddlers: An Initial Study Investigating the Early Detection of Autism and Pervasive Developmental Disorders , 2001, Journal of autism and developmental disorders.

[87]  R. Tuchman,et al.  Seizures and EEG Findings in Children With Autism Spectrum Disorder , 1998, CNS Spectrums.

[88]  C. Barthélémy,et al.  Sensitivity and specificity of the Behavioral Summarized Evaluation (BSE) for the assessment of autistic behaviors , 1992, Journal of autism and developmental disorders.

[89]  M. Ernst,et al.  Functional neuroimaging of autistic disorders. , 2000, Mental retardation and developmental disabilities research reviews.

[90]  B. Leventhal,et al.  The Autism Diagnostic Observation Schedule—Generic: A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism , 2000, Journal of autism and developmental disorders.

[91]  E. Hollander,et al.  Obsessive–compulsive behaviors in parents of multiplex autism families , 2003, Psychiatry Research.

[92]  M. Ghaziuddin,et al.  Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study. , 1998, Journal of intellectual disability research : JIDR.

[93]  C. Gillberg,et al.  AUTISTIC BEHAVIOUR AND ATTENTION DEFICITS IN TUBEROUS SCLEROSIS: A POPULATION‐BASED STUDY , 1994, Developmental medicine and child neurology.

[94]  W. Barbaresi,et al.  The Yield of the Medical Evaluation of Children with Pervasive Developmental Disorders , 2003, Journal of autism and developmental disorders.

[95]  V. Wong,et al.  Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome , 2000, Journal of medical genetics.

[96]  Virginia C. N. Wong Epilepsy in Children With Autistic Spectrum Disorder , 1993, Journal of child neurology.

[97]  J. Miles,et al.  Value of a clinical morphology examination in autism. , 2000, American journal of medical genetics.

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

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

[100]  E. Goldson Educating Children with Autism , 2004 .