Autism Workup

  • Author: James Robert Brasic, MD, MPH; Chief Editor: Caroly Pataki, MD   more...
 
Updated: May 24, 2012
 

Approach Considerations

Several instruments have been developed to diagnose autism and other pervasive developmental disorders. To administer tools for the diagnosis of autism and related conditions in a reliable and valid manner, extensive training and experience is needed. Therefore, unless they have vast experience with children with autism and understand the concepts implicit in the diagnostic criteria and rating scales, pediatricians and other clinicians are advised to refer patients with possible autism to experienced clinicians for definitive diagnostic evaluations.

Clinical diagnoses by trained raters using structured diagnostic instruments are not reliable. Identification of the key dimensions characteristic of autism spectrum disorders may be a more accurate means to distinguish subtypes of people with autism spectrum disorders.[78]

Next

Blood Studies

Whole-blood serotonin is elevated in approximately one third of individuals with autistic disorder. Elevations of whole-blood serotonin occur in parents and siblings of individuals with autistic disorder.

Serum biotinidase is reduced in some individuals with autistic disorder.

Immunologic studies are helpful to identify abnormalities, such as decreased plasma concentrations of the C4B complement protein.

Elevations of C-terminally directed beta-endorphin protein immunoreactivity is common in individuals with autistic disorder and their mothers.

Oxidative stress may play a role in the pathogenesis and the pathophysiology of autism.[79] Compared with normal children, children with autism have decrements in the following[79] :

  • Plasma levels of cysteine, glutathione, and methionine
  • The ratio of S-adenosylmethionine (SAM) to S-adenosylhomocysteine (SAH)
  • The ratio of reduced to oxidized glutathione

Some children with autism display hyperlacticacidemia[80] as well as evidence of mitochondrial disorders[80] including carnitine deficiency.[81]

Previous
Next

Magnetic Resonance Imaging

MRI studies in patients with autism are inconsistent. However, typical findings include enlargement of the total brain, the total brain tissue, and the lateral and fourth ventricles, along with reductions in size of the midbrain, the medulla oblongata, the cerebellar hemispheres, and vermal lobules VI and VII.[82, 83] Although vermal hypoplasia is found in some individuals with autism, vermal hyperplasia is identified in others.[84]

The volume of the gray matter is bilaterally decreased in the amygdala, the precuneus, and the hippocampus of people with autism spectrum disorders. Adolescents with autism spectrum disorders showed greater decreases in the volume of the gray matter of the right precuneus than in adults. The volume of the gray matter in the middle-inferior frontal gyrus was slightly increased in people with autism spectrum disorders.[85]

Imaging studies in patients with autistic disorder who exhibit head banging may show enlargement of the diploic space in the parietal and occipital bones, with loss of gray matter adjacent to the bony changes. These findings resemble those of professional boxers with encephalopathy (dementia pugilistica).

In one pediatric study, children aged 12 to 48 months were administered magnetic resonance imaging with a 1.5 Tesla General Electric scanner for up to 75 minutes while sleeping at bedtime. A story was spoken to the child through headphones. Toddlers who developed autism failed to exhibit the left hemispheric response to spoken language of typically developing toddlers. Toddlers who developed autism demonstrated abnormal right temporal cortical responses to language. These findings provide evidence of atypical hemispheric lateralization for language in toddlers who develop autism.[86]

Diffusion tensor imaging

On MRI studies, diffusion tensor imaging can provide information about connections among different brain regions. Children with autism spectrum disorders demonstrated higher values for the apparent diffusion coefficient (ADC) in the whole frontal lobe as well as the long and short association fibers of the frontal lobe.[87]

Children with autism and their healthy siblings demonstrate significant reductions in fractional anisotropy (FA) in association, commissural, and project tracts in contrast to control groups.[88, 89] Alterations in FA in the white matter of the frontal, parietal, and temporal lobes suggest an inherited trait characteristic of a vulnerability to develop autism.

Previous
Next

Computed Tomography

Results of CT studies of the head are inconsistent in patients with autistic disorder. However, they may reveal deficits, including enlargement of the ventricles, hydrocephalus, parenchymal lesions, and reduction in size of the caudate nucleus.

Previous
Next

Positron Emission Tomography

Positron emission tomography (PET) reveals multiple deficits. No finding has characterized all people with autism and the results vary with each individual.

With fluorine-18 fluoro-2-deoxyglucose, the anterior rectal gyrus is found larger on the left than the right in some patients, a finding opposite the asymmetry seen in typical individuals. Some individuals also exhibit an increased glucose metabolic rate in the right posterior calcarine cortex and a decreased glucose metabolic rate in the left posterior putamen and the left medial thalamus.[90]

See PET Scanning in Autism Spectrum Disorders for further information, including the PET scan of the boy with autism in the video files posted throughout this article.

Previous
Next

Single-Photon Emission Computed Tomography

Chiron et al found that the normal asymmetry of regional cerebral blood flow (ie, higher in the left hemisphere, in right-handed individuals), was lacking in some autistic patients. Tests of regional cerebral blood flow with 133 Xe revealed left-hemispheric dysfunction, especially in the cortical areas devoted to language and handedness.[91]

Regional cerebral blood flow assessed with technetium-99m labeled to hexamethylpropyleneamine oxide (HMPAO), a lipophilic substance, in children with autistic disorder demonstrates variable anomalies including reductions in the vermis, the cerebellar hemispheres, the thalami, the basal ganglia, and the parietal and temporal lobes. These findings suggest that no single abnormality characterizes all individuals with autistic disorder. Biological classes may have specific types of regional cerebral blood flow dysfunction.

Previous
Next

Electroencephalography

Electroencephalography rules out seizure disorder, acquired aphasia with convulsive disorder (Landau-Kleffner syndrome), biotin-responsive infantile encephalopathy, and related conditions. Consultation with an electroencephalographer may help determine appropriate procedures for individual cases. A single normal electroencephalogram does not rule out a paroxysmal abnormality, such as a seizure disorder.

When a routine electroencephalogram does not reveal unequivocal evidence of a seizure disorder in a patient with a possible seizure disorder (eg, partial seizures with complex symptomatology), specialized procedures may help to clarify the diagnosis. Measurements of electroencephalographic activity after sleep deprivation and after stimulation with light, noise, and tactile sensations using nasopharyngeal leads and simultaneous video monitoring along with electroencephalogram may be helpful in such cases.

Admission to a specialized unit for simultaneous 24-hour videotape monitoring of electroencephalography and movement of the patient for a few days of assessment may facilitate the establishment of or the exclusion of diagnosis of a paroxysmal disorder. See PET Scanning in Autism Spectrum Disorders for further information, including the electroencephalogram of the boy with autism in the video files posted within this article.[92]

Previous
Next

Lead Testing

Children with lead poisoning may demonstrate neurobehavioral changes. Constipation, abdominal pain, and/or anorexia are common. Lead poisoning in children at risk should be ruled out through appropriate testing.

Previous
Next

Psychophysiological Assessment

Psychophysiological assessment is indicated. Children are not likely to show the response habituation in respiratory period, electrodermal activity, and the vasoconstrictive peripheral pulse amplitude response to repeatedly presented stimuli seen in typical children. Children with autism may demonstrate auditory overselectivity.

Previous
Next

Polysomnography

Polysomnography may facilitate the diagnosis of treatable comorbid disorders. Most children with autism have sleep disturbances, including early morning awakening, frequent arousals, and fragmented sleep.[93] Additionally, children with autism often display prolonged sleep onset and abnormal sleep architecture. Polysomnography may be useful to identify sleep disorders. Polysomnography may also demonstrate seizure discharges.

Previous
Proceed to Treatment & Management
 
 
Contributor Information and Disclosures
Author

James Robert Brasic, MD, MPH  Assistant Professor, Division of Nuclear Medicine, Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine

James Robert Brasic, MD, MPH is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, American Academy of Neurology, and Movement Disorders Society

Disclosure: Taylor and Francis Royalty Independent contractor; Wolters Kluver/Lippincott Williams & Wilkins Royalty Independent contractor; National Alliance for Research on Schizophrenia and Depression Grant/research funds Other; National Institutes of Health Grant/research funds Other

Chief Editor

Caroly Pataki, MD  Professor of Clinical Psychiatry and Behavioral Sciences, Department of Psychiatry, Division Chair, Child and Adolescent Psychiatry, Keck School of Medicine of the University of Southern California

Caroly Pataki, MD is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, New York Academy of Sciences, and Physicians for Social Responsibility

Disclosure: Nothing to disclose.

Additional Contributors

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Acknowledgments

This research is supported by the Essel Foundation, the Brain and Behavior Research Foundation (NARSAD), the Tourette Syndrome Association Inc, the National Institutes of Health, the Department of Psychiatry of Bellevue Hospital Center, and the New York University School of Medicine. The cooperation of the Health and Hospitals Corporation of the City of New York is gratefully acknowledged.

The author also gratefully acknowledges the technical assistance in the preparation of the video portions of this article of the Digital Media Center at the Skirball Institute of Biomolecular Medicine at the New York University Medical Center.

References

  1. Teitelbaum P, Teitelbaum O, Nye J, Fryman J, Maurer RG. Movement analysis in infancy may be useful for early diagnosis of autism. Proc Natl Acad Sci U S A. Nov 10 1998;95(23):13982-7. [Medline]. [Full Text].

  2. Brasic JR, Holland JA. Reliable classification of case-control studies of autistic disorder and obstetric complications. Journal of Developmental and Physical Disabilities. 2006;18:355-381.

  3. Brasic JR, Holland JA. A qualitative and quantitative review of obstetric complications and autistic disorder. Journal of Developmental and Physical Disabilities. 2007;19:337-364.

  4. Brasic JR, Holland JA, Alexander M. The increased likelihood of obstetric complications in autistic disorder [abstract]. Southern Medical Journal. 2003;96 (10 supplement):S34.

  5. Fatemi SH, Earle J, Kanodia R, Kist D, Emamian ES, Patterson PH, et al. Prenatal viral infection leads to pyramidal cell atrophy and macrocephaly in adulthood: implications for genesis of autism and schizophrenia. Cell Mol Neurobiol. Feb 2002;22(1):25-33. [Medline].

  6. Gutierrez GC, Smalley SL, Tanguay PE. Autism in tuberous sclerosis complex. J Autism Dev Disord. Apr 1998;28(2):97-103. [Medline].

  7. Anonymous. Court finds no Vaccines-autism link. Hum Vaccin. May 14 2010;6(5):[Medline].

  8. Hammer LD, Curry ES, Harlor AD, Laughlin JJ, Leeds AJ, Lessin HR, et al. Increasing immunization coverage. Pediatrics. Jun 2010;125(6):1295-304. [Medline].

  9. Filipek PA, Accardo PJ, Ashwal S, Baranek GT, Cook EH Jr, Dawson G, et al. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology. Aug 22 2000;55(4):468-79. [Medline].

  10. Courchesne E, Mouton PR, Calhoun ME, et al. Neuron number and size in prefrontal cortex of children with autism. JAMA. Nov 9 2011;306(18):2001-10. [Medline].

  11. Hughes JR. Autism: the first firm finding = underconnectivity?. Epilepsy Behav. Aug 2007;11(1):20-4. [Medline].

  12. Carmody DP, Lewis M. Regional white matter development in children with autism spectrum disorders. Dev Psychobiol. Dec 2010;52(8):755-63. [Medline].

  13. Oblak AL, Gibbs TT, Blatt GJ. Decreased GABA(B) receptors in the cingulate cortex and fusiform gyrus in autism. J Neurochem. Sep 1 2010;114(5):1414-23. [Medline]. [Full Text].

  14. Roberts EM, English PB, Grether JK, Windham GC, Somberg L, Wolff C. Maternal residence near agricultural pesticide applications and autism spectrum disorders among children in the California Central Valley. 2007;Accessed 20 Sep 2007. Environmental health perspectives [serial online]. [Full Text].

  15. Samson K. CDC-backed study suggests possible link between autistic disorders, maternal perticide exposure in California. Neurology Today. September 2007;7:7..

  16. Rapin I, Tuchman RF. What is new in autism?. Curr Opin Neurol. Apr 2008;21(2):143-9. [Medline].

  17. Honda H, Shimizu Y, Rutter M. No effect of MMR withdrawal on the incidence of autism: a total population study. J Child Psychol Psychiatry. Jun 2005;46(6):572-9. [Medline].

  18. Taylor B, Miller E, Farrington CP, Petropoulos MC, Favot-Mayaud I, Li J, et al. Autism and measles, mumps, and rubella vaccine: no epidemiological evidence for a causal association. Lancet. Jun 12 1999;353(9169):2026-9. [Medline].

  19. Thompson WW, Price C, Goodson B, Shay DK, Benson P, Hinrichsen VL, et al. Early thimerosal exposure and neuropsychological outcomes at 7 to 10 years. N Engl J Med. Sep 27 2007;357(13):1281-92. [Medline].

  20. Retraction--Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive developmental disorder in children. Lancet. Feb 6 2010;375(9713):445. [Medline].

  21. Dobbs M. What the autism studies show isn't reflected in what the candidates say. The Washington Post. April 22, 2008;A: A8AutismBrain and Nervous System Centerhttp://www.emedicinehealth.com/collections/SU294.aspAutism Overviewhttp://www.emedicinehealth.com/Articles/29544-1.aspAutism Causeshttp://www.emedicinehealth.com/articles/29544-2.aspAutism Symptomshttp://www.emedicinehealth.com/articles/29544-3.aspAutism Treatmenthttp://www.emedicinehealth.com/articles/29544-6.aspAsperger Syndrome Overviewhttp://www.emedicinehealth.com/articles/54056-1.asp.

  22. [Best Evidence] Larsson HJ, Eaton WW, Madsen KM, Vestergaard M, Olesen AV, Agerbo E, et al. Risk factors for autism: perinatal factors, parental psychiatric history, and socioeconomic status. Am J Epidemiol. May 15 2005;161(10):916-25; discussion 926-8. [Medline].

  23. Lawler CP, Croen LA, Grether JK, Van de Water J. Identifying environmental contributions to autism: provocative clues and false leads. Ment Retard Dev Disabil Res Rev. 2004;10(4):292-302. [Medline].

  24. Croen LA, Grether JK, Yoshida CK, Odouli R, Hendrick V. Antidepressant Use During Pregnancy and Childhood Autism Spectrum Disorders. Arch Gen Psychiatry. Jul 4 2011;[Medline].

  25. Ozonoff S, Young GS, Carter A, et al. Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study. Pediatrics. Aug 15 2011;[Medline]. [Full Text].

  26. Abrahams BS, Geschwind DH. Connecting genes to brain in the autism spectrum disorders. Arch Neurol. Apr 2010;67(4):395-9. [Medline].

  27. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. May 2008;9(5):341-55. [Medline]. [Full Text].

  28. Hallmayer J, Cleveland S, Torres A, et al. Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism. Arch Gen Psychiatry. Jul 4 2011;[Medline].

  29. Gillberg C, Cederlund M. Asperger syndrome: familial and pre- and perinatal factors. J Autism Dev Disord. Apr 2005;35(2):159-66. [Medline].

  30. Glasson EJ, Bower C, Petterson B, de Klerk N, Chaney G, Hallmayer JF. Perinatal factors and the development of autism: a population study. Arch Gen Psychiatry. Jun 2004;61(6):618-27. [Medline].

  31. Merritt JL 2nd, Jalal SM, Barbaresi WJ, Babovic-Vuksanovic D. 14q32.3 deletion syndrome with autism. Am J Med Genet A. Feb 15 2005;133A(1):99-100. [Medline].

  32. Liu XQ, Georgiades S, Duku E, et al. Identification of genetic loci underlying the phenotypic constructs of autism spectrum disorders. J Am Acad Child Adolesc Psychiatry. Jul 2011;50(7):687-696.e13. [Medline].

  33. Jorde LB, Hasstedt SJ, Ritvo ER, Mason-Brothers A, Freeman BJ, Pingree C, et al. Complex segregation analysis of autism. Am J Hum Genet. Nov 1991;49(5):932-8. [Medline]. [Full Text].

  34. Schaefer GB, Lutz RE. Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med. Sep 2006;8(9):549-56. [Medline].

  35. Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. Jan 2007;39(1):25-7. [Medline]. [Full Text].

  36. Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. Nov 8 2007;56(3):422-37. [Medline].

  37. Tropea D, Giacometti E, Wilson NR, Beard C, McCurry C, Fu DD, et al. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci U S A. Feb 10 2009;106(6):2029-34. [Medline]. [Full Text].

  38. Garber KB, Visootsak J, Warren ST. Fragile X syndrome. Eur J Hum Genet. Jun 2008;16(6):666-72. [Medline].

  39. Nakamoto M, Nalavadi V, Epstein MP, Narayanan U, Bassell GJ, Warren ST. Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors. Proc Natl Acad Sci U S A. Sep 25 2007;104(39):15537-42. [Medline]. [Full Text].

  40. Curatolo P, Porfirio MC, Benedetti S, Giana G, Manzi B. [Autismo.]. Minerva Pediatr. 2008/10;60(5):846-848.

  41. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. Aug 23 2008;372(9639):657-68. [Medline].

  42. Blaxill MF. What's going on? The question of time trends in autism. Public Health Rep. Nov-Dec 2004;119(6):536-51. [Medline]. [Full Text].

  43. Newschaffer CJ, Falb MD, Gurney JG. National autism prevalence trends from United States special education data. Pediatrics. Mar 2005;115(3):e277-82. [Medline].

  44. Barbaresi WJ, Katusic SK, Colligan RC, Weaver AL, Jacobsen SJ. The incidence of autism in Olmsted County, Minnesota, 1976-1997: results from a population-based study. Arch Pediatr Adolesc Med. Jan 2005;159(1):37-44. [Medline].

  45. Rutter M. Aetiology of autism: findings and questions. J Intellect Disabil Res. Apr 2005;49:231-8. [Medline].

  46. Rutter M. Incidence of autism spectrum disorders: changes over time and their meaning. Acta Paediatr. Jan 2005;94(1):2-15. [Medline].

  47. Sandin S, Hultman CM, Kolevzon A, et al. Advancing maternal age is associated with increasing risk for autism: a review and meta-analysis. J Am Acad Child Adolesc Psychiatry. May 2012;51(5):477-486.e1. [Medline].

  48. Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ. Mar 30 2012;61(3):1-22. [Full Text].

  49. Kurita H. [Current status of autism studies]. Seishin Shinkeigaku Zasshi. 2001;103(1):64-75. [Medline].

  50. Bailey A, Bolton P, Butler L, Le Couteur A, Murphy M, Scott S, et al. Prevalence of the fragile X anomaly amongst autistic twins and singletons. J Child Psychol Psychiatry. Jul 1993;34(5):673-88. [Medline].

  51. Chudley AE, Hagerman RJ. Fragile X syndrome. J Pediatr. Jun 1987;110(6):821-31. [Medline].

  52. Cohen IL, Sudhalter V, Pfadt A, Jenkins EC, Brown WT, Vietze PM. Why are autism and the fragile-X syndrome associated? Conceptual and methodological issues. Am J Hum Genet. Feb 1991;48(2):195-202. [Medline]. [Full Text].

  53. Einfeld SL. Autism and the fragile X syndrome. Am J Med Genet. May-Jun 1988;30(1-2):237-8. [Medline].

  54. Fisch GS, Cohen IL, Jenkins EC, Brown WT. Screening developmentally disabled male populations for fragile X: the effect of sample size. Am J Med Genet. May-Jun 1988;30(1-2):655-63. [Medline].

  55. Reiss AL, Freund L. Fragile X syndrome, DSM-III-R, and autism. J Am Acad Child Adolesc Psychiatry. Nov 1990;29(6):885-91. [Medline].

  56. Wang LW, Tancredi DJ, Thomas DW. The prevalence of gastrointestinal problems in children across the United States with autism spectrum disorders from families with multiple affected members. J Dev Behav Pediatr. Jun 2011;32(5):351-60. [Medline].

  57. Mahoney A, Poling A. Sexual Abuse Prevention for People with Severe Developmental Disabilities. J of Developmental and Physical Disabilities. May 2011;23(4):369-76.

  58. Burnett-Zeigler I, Walton MA, Ilgen M, et al. Prevalence and Correlates of Mental Health Problems and Treatment Among Adolescents Seen in Primary Care. Journal of Adolescent Health. 2012 June; 50(6):559-564.

  59. Baron-Cohen S, Allen J, Gillberg C. Can autism be detected at 18 months? The needle, the haystack, and the CHAT. Br J Psychiatry. Dec 1992;161:839-43. [Medline].

  60. Baron-Cohen S, Cox A, Baird G, Swettenham J, Nightingale N, Morgan K, et al. Psychological markers in the detection of autism in infancy in a large population. Br J Psychiatry. Feb 1996;168(2):158-63. [Medline].

  61. Lee MS, Kim JI, Ernst E. Massage therapy for children with autism spectrum disorders: a systematic review. J Clin Psychiatry. Mar 2011;72(3):406-11. [Medline].

  62. Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. Oct 1994;24(5):659-85. [Medline].

  63. Liptak GS, Kennedy JA, Dosa NP. Social Participation in a Nationally Representative Sample of Older Youth and Young Adults With Autism. J Dev Behav Pediatr. Apr 15 2011;[Medline].

  64. Allison C, Auyeung B, Baron-Cohen S. Toward brief "red flags" for autism screening: the short autism spectrum quotient and the short quantitative checklist in 1,000 cases and 3,000 controls. J Am Acad Child Adolesc Psychiatry. Feb 2012;51(2):202-212.e7. [Medline].

  65. Allison C, Baron-Cohen S, Wheelwright S, Charman T, Richler J, Pasco G, et al. The Q-CHAT (Quantitative CHecklist for Autism in Toddlers): a normally distributed quantitative measure of autistic traits at 18-24 months of age: preliminary report. J Autism Dev Disord. Sep 2008;38(8):1414-25. [Medline].

  66. Auyeung B, Baron-Cohen S, Wheelwright S, Allison C. The Autism Spectrum Quotient: Children's Version (AQ-Child). J Autism Dev Disord. Aug 2008;38(7):1230-40. [Medline].

  67. Baron-Cohen S, Hoekstra RA, Knickmeyer R, Wheelwright S. The Autism-Spectrum Quotient (AQ)--adolescent version. J Autism Dev Disord. Apr 2006;36(3):343-50. [Medline].

  68. Baron-Cohen S, Wheelwright S, Skinner R, Martin J, Clubley E. The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. J Autism Dev Disord. Feb 2001;31(1):5-17. [Medline].

  69. Courchesne E, Carper R, Akshoomoff N. Evidence of brain overgrowth in the first year of life in autism. JAMA. Jul 16 2003;290(3):337-44. [Medline].

  70. Fombonne E, Rogé B, Claverie J, Courty S, Frémolle J. Microcephaly and macrocephaly in autism. J Autism Dev Disord. Apr 1999;29(2):113-9. [Medline].

  71. Aylward EH, Minshew NJ, Field K, Sparks BF, Singh N. Effects of age on brain volume and head circumference in autism. Neurology. Jul 23 2002;59(2):175-83. [Medline].

  72. Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P. Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatry. Nov 2010;167(11):1349-56. [Medline]. [Full Text].

  73. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR)(TM), Text Revision. 4th Edition. Washington, DC: American Psychiatric Association; 2000.

  74. National Center for Health Statistics. International Classification of Diseases (ICD-9-CM), 9th Revision, Clinical Modification. 4th Edition. Los Angeles, CA: Practice Management Information Corporation (PMIC); 1993.

  75. American Psychiatric Association. DSM-5 Development, Autism Spectrum Disorder. Proposed Revision. Available at http://www.dsm5.org/ProposedRevisions/Pages/proposedrevision.aspx?rid=94. Accessed December 22, 2011.

  76. Frazier TW, Youngstrom EA, Speer L, Embacher R, Law P, Constantino J, et al. Validation of Proposed DSM-5 Criteria for Autism Spectrum Disorder. J Am Acad Child Adolesc Psychiatry. Jan 2012;51(1):28-40.e3. [Medline]. [Full Text].

  77. Mandy WP, Charman T, Skuse DH. Testing the Construct Validity of Proposed Criteria for DSM-5 Autism Spectrum Disorder. J Am Acad Child Adolesc Psychiatry. Jan 2012;51(1):41-50. [Medline].

  78. Lord C, Petkova E, Hus V, Gan W, Lu F, Martin DM, et al. A multisite study of the clinical diagnosis of different autism spectrum disorders. Arch Gen Psychiatry. Mar 2012;69(3):306-13. [Medline].

  79. James SJ, Melnyk S, Jernigan S, Cleves MA, Halsted CH, Wong DH, et al. Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism. Am J Med Genet B Neuropsychiatr Genet. Dec 5 2006;141B(8):947-56. [Medline]. [Full Text].

  80. Oliveira G, Diogo L, Grazina M, Garcia P, Ataíde A, Marques C, et al. Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Dev Med Child Neurol. Mar 2005;47(3):185-9. [Medline].

  81. Filipek PA, Juranek J, Nguyen MT, Cummings C, Gargus JJ. Relative carnitine deficiency in autism. J Autism Dev Disord. Dec 2004;34(6):615-23. [Medline].

  82. Hashimoto T, Tayama M, Miyazaki M, Murakawa K, Shimakawa S, Yoneda Y, et al. Brainstem involvement in high functioning autistic children. Acta Neurol Scand. Aug 1993;88(2):123-8. [Medline].

  83. Hashimoto T, Tayama M, Murakawa K, Yoshimoto T, Miyazaki M, Harada M, et al. Development of the brainstem and cerebellum in autistic patients. J Autism Dev Disord. Feb 1995;25(1):1-18. [Medline].

  84. Filipek PA. Quantitative magnetic resonance imaging in autism: the cerebellar vermis. Curr Opin Neurol. Apr 1995;8(2):134-8. [Medline].

  85. Via E, Radua J, Cardoner N, Happé F, Mataix-Cols D. Meta-analysis of Gray Matter Abnormalities in Autism Spectrum Disorder: Should Asperger Disorder Be Subsumed Under a Broader Umbrella of Autistic Spectrum Disorder?. Arch Gen Psychiatry. Apr 2011;68(4):409-18. [Medline].

  86. Eyler LT, Pierce K, Courchesne E. A failure of left temporal cortex to specialize for language is an early emerging and fundamental property of autism. Brain. Mar 2012;135:949-60. [Medline]. [Full Text].

  87. Sundaram SK, Kumar A, Makki MI, Behen ME, Chugani HT, Chugani DC. Diffusion tensor imaging of frontal lobe in autism spectrum disorder. Cereb Cortex. Nov 2008;18(11):2659-65. [Medline]. [Full Text].

  88. Barnea-Goraly N, Lotspeich LJ, Reiss AL. Similar white matter aberrations in children with autism and their unaffected siblings: a diffusion tensor imaging study using tract-based spatial statistics. Arch Gen Psychiatry. Oct 2010;67(10):1052-60. [Medline].

  89. Jou RJ, Mateljevic N, Kaiser MD, Sugrue DR, Volkmar FR, Pelphrey KA. Structural neural phenotype of autism: preliminary evidence from a diffusion tensor imaging study using tract-based spatial statistics. AJNR Am J Neuroradiol. Oct 2011;32(9):1607-13. [Medline].

  90. Heh CW, Smith R, Wu J, Hazlett E, Russell A, Asarnow R, et al. Positron emission tomography of the cerebellum in autism. Am J Psychiatry. Feb 1989;146(2):242-5. [Medline].

  91. Chiron C, Leboyer M, Leon F, Jambaqué I, Nuttin C, Syrota A. SPECT of the brain in childhood autism: evidence for a lack of normal hemispheric asymmetry. Dev Med Child Neurol. Oct 1995;37(10):849-60. [Medline].

  92. Malow BA. Sleep deprivation and epilepsy. Epilepsy Curr. Sep-Oct 2004;4(5):193-5. [Medline]. [Full Text].

  93. Sahota PK, Miles JH, Wang CH. Sleep disorders in children with autism. Neurology. 1997;48 (3):A258.

  94. Marshall BL, Napolitano DA, McAdam DB, Dunleavy III JJ, Tessing JL, Varrell J. Venlafaxine and increased aggression in a female with autism. J Am Acad Child Adolesc Psychiatry. Apr 2003;42(4):383-4. [Medline].

  95. Antshel KM, Polacek C, McMahon M, et al. Comorbid ADHD and anxiety affect social skills group intervention treatment efficacy in children with autism spectrum disorders. J Dev Behav Pediatr. Jul-Aug 2011;32(6):439-46. [Medline].

  96. Oswald DP, Sonenklar NA. Medication use among children with autism spectrum disorders. J Child Adolesc Psychopharmacol. Jun 2007;17(3):348-55. [Medline].

  97. McPheeters ML, Warren Z, Sathe N, et al. A systematic review of medical treatments for children with autism spectrum disorders. Pediatrics. May 2011;127(5):e1312-21. [Medline].

  98. McDougle CJ, Kem DL, Posey DJ. Case series: use of ziprasidone for maladaptive symptoms in youths with autism. J Am Acad Child Adolesc Psychiatry. Aug 2002;41(8):921-7. [Medline].

  99. Hollander E, Phillips A, Chaplin W, Zagursky K, Novotny S, Wasserman S, et al. A placebo controlled crossover trial of liquid fluoxetine on repetitive behaviors in childhood and adolescent autism. Neuropsychopharmacology. Mar 2005;30(3):582-9. [Medline].

  100. Owley T, Walton L, Salt J, Guter SJ Jr, Winnega M, Leventhal BL, et al. An open-label trial of escitalopram in pervasive developmental disorders. J Am Acad Child Adolesc Psychiatry. Apr 2005;44(4):343-8. [Medline].

  101. Namerow LB, Thomas P, Bostic JQ, Prince J, Monuteaux MC. Use of citalopram in pervasive developmental disorders. J Dev Behav Pediatr. Apr 2003;24(2):104-8. [Medline].

  102. Couturier JL, Nicolson R. A retrospective assessment of citalopram in children and adolescents with pervasive developmental disorders. J Child Adolesc Psychopharmacol. Fall 2002;12(3):243-8. [Medline].

  103. King BH, Hollander E, Sikich L, McCracken JT, Scahill L, Bregman JD, et al. Lack of efficacy of citalopram in children with autism spectrum disorders and high levels of repetitive behavior: citalopram ineffective in children with autism. Arch Gen Psychiatry. Jun 2009;66(6):583-90. [Medline].

  104. Krishnaswami S, McPheeters ML, Veenstra-Vanderweele J. A systematic review of secretin for children with autism spectrum disorders. Pediatrics. May 2011;127(5):e1322-5. [Medline].

  105. Kem DL, Posey DJ, McDougle CJ. Priapism associated with trazodone in an adolescent with autism. J Am Acad Child Adolesc Psychiatry. Jul 2002;41(7):758. [Medline].

  106. Rossignol DA. Hyperbaric oxygen therapy might improve certain pathophysiological findings in autism. Med Hypotheses. 2007;68(6):1208-27. [Medline].

  107. Rossignol DA, Rossignol LW. Hyperbaric oxygen therapy may improve symptoms in autistic children. Med Hypotheses. 2006;67(2):216-28. [Medline].

  108. Rossignol DA, Rossignol LW, James SJ, Melnyk S, Mumper E. The effects of hyperbaric oxygen therapy on oxidative stress, inflammation, and symptoms in children with autism: an open-label pilot study. BMC Pediatr. Nov 16 2007;7:36. [Medline]. [Full Text].

  109. Williams K, Wray JA, Wheeler DM. Intravenous secretin for autism spectrum disorders (ASD). Cochrane Database Syst Rev. Apr 18 2012;4:CD003495. [Medline].

  110. Celexa (citalopram hydrobromide) [package insert]. St. Louis, Missouri: Forest Pharmaceuticals, Inc; August, 2011. [Full Text].

  111. US Food and Drug Administration. Celexa (citalopram hydrobromide): Drug safety communication – abnormal heart rhythms associated with high doses. Available at http://www.fda.gov/Safety/MedWatch/SafetyInformation/SafetyAlertsforHumanMedicalProducts/ucm269481.htm. Accessed August 24, 2011.

  112. Marcus RN, Owen R, Kamen L, Manos G, McQuade RD, Carson WH, et al. A placebo-controlled, fixed-dose study of aripiprazole in children and adolescents with irritability associated with autistic disorder. J Am Acad Child Adolesc Psychiatry. Nov 2009;48(11):1110-9. [Medline].

  113. McCracken JT, McGough J, Shah B, Cronin P, Hong D, Aman MG, et al. Risperidone in children with autism and serious behavioral problems. N Engl J Med. Aug 1 2002;347(5):314-21. [Medline].

  114. Owen R, Sikich L, Marcus RN, Corey-Lisle P, Manos G, McQuade RD, et al. Aripiprazole in the treatment of irritability in children and adolescents with autistic disorder. Pediatrics. Dec 2009;124(6):1533-40. [Medline].

 
Previous
Next
 
Autism screening checklist.
Serotonin syndrome checklist.
Clinicians are advised to videotape the process of verbally explaining the protocol and answering questions. Permission must be explicitly given to perform the procedure and cannot continue until the parents agree. Parents are asked to give permission to complete this protocol. The entire process is videotaped. In this segment, the mother of a healthy, normal control child gives informed consent to participate as a volunteer in a research study of autism. Occasionally, parents decline to give consent, and the procedure must cease. An earlier version of this videotape is in the New York University Medical Library, New York, New York.
A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner repeated movements of the telephone receiver and tapping on the telephone receiver initially exhibited by the subject. The examiner repeated the subject's actions several times in an attempt to elicit repetition of the movement by the subject. Instead, the subject does not acknowledge the presence of the examiner. He looks away from the examiner. He turns his back to the examiner. The subject spins by rotating on a central vertical axis in his body. He exhibits nonfunctional play with the telephone. He displays frequent finger wiggling and the other hand stereotypies. He frequently vocalizes indecipherable sounds and briefly rocks. He tilts his head and looks out of the corner of his eye for a few seconds.
The examiner may attempt to establish a sequence of taking turns hitting a plate with a block. The examiner says, "My turn," and then taps the plate. The examiner gives the block to the subject and says, "Your turn." The subject may be physically assisted in the activity if the desired response does not occur. The following is a clinical example: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. The examiner attempted to elicit turn-taking by hitting the plate with a block. The child repeatedly jumps and rotates. He exhibits nonfunctional play with the telephone. He tilts his head and peers out of the corner of his eye. He is interested in the feel of the stick. He exhibits quick hand movements with small toys. When his father and his brother leave the room, the child does not acknowledge their departure. When his father returns to the room, he does not run to greet him. He appears indifferent to the departure and the return of his father. He repeatedly touches the surface of the wooden block. He touches the surface of a furlike cloth. He also places this cloth to his mouth to feel the texture on his lips. He is also fascinated with a string of yarn. He moves the string of yarn up and down and back and forth. This is nonfunctional play with ordinary items.
The following is a clinical example that continues the segment of prior video: A 7-year-old boy with autistic disorder took daily vitamins and no other medications at the time of assessment. He appears indifferent to the departure of his brother from the room. He also does not respond with a greeting when his brother returns. He appears interested in his nonfunctional play. He displays minimal acknowledgment of the departure and return of his brother. In particular, he does not respond to his brother's touching him on the shoulder to greet him. Instead, he demonstrates inappropriate friendliness with the psychologist who is evaluating the procedures. Although he never saw her before this assessment, he suddenly goes to her to kiss her.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.