Advertisement

The Indian Journal of Pediatrics

, Volume 84, Issue 1, pp 44–52 | Cite as

Evolution in the Understanding of Autism Spectrum Disorder: Historical Perspective

  • Mark MintzEmail author
Review Article

Abstract

The study of the evolution in the diagnosis and treatment of autism is a lesson in the dangers of medical beliefs or doctrines that are not grounded in medical science. The early descriptions of autism suggested that it was the result of childhood psychoses or psychodynamic disturbances of parent-child relationships. This flawed conceptualization of autism spectrum disorders (ASD) gave way to advances in medical science, which have established ASD as a neurobiological disorder of early brain development. There are many genetic, epigenetic, metabolic, hormonal, immunological, neuroanatomical and neurophysiological etiologies of ASD, as well as an array of gastrointestinal and other systemic co-morbid disorders. Thus, ASD are a biologically heterogeneous population with extensive neurodiversity. Early identification and understanding of ASD is crucial; interventions at younger ages are associated with improved outcomes. The advent of understanding the biological sub-phenotypes of ASD, along with targeted medical therapies, coupled with a multimodal therapeutic approach that encompasses behavioral, educational, social, speech, occupational, creative arts, and other forms of therapies has created a new and exciting era for individuals with ASD and their families: “personalized” and “precision” medical care based upon underlying biological sub-phenotypes and clinical profiles. For many individuals and their families dealing with the scourge of autism, their long and frustrating diagnostic journey is beginning to come to an end, with a hope for improved outcomes and quality of life.

Keywords

Autism Spectrum Disorder History Phenotype Personalized Medicine Precision Medicine Leo Kanner 

Notes

Compliance with Ethical Standards

Conflict of Interest

Dr. Mintz serves on the editorial boards of the Journal of Child Neurology and Vision Development and Rehabilitation; has functioned as Principal Investigator for clinical trials research contracted through the Clinical Research Center of New Jersey, LLC (CRCNJ) sponsored by the following companies: Sunovion, Pfizer, Shire, Eisai, Inc, and Allergan; is the principle investigator for research funded by the State of New Jersey through the Governor’s Council for Medical Research and Treatment of Autism; is President, CEO, and Founder of The Center for Neurological and Neurodevelopmental Health, LLC, (CNNH) and CRCNJ; and is President of NeurAbilities, a 501(3)c Public Charity.

Source of Funding

None.

References

  1. 1.
    Rapin I, Tuchman RF. Where we are: overview and definitions. In: Tuchman R, Rapin I, editors. Autism: A Neurological Disorder of Early Brain Development, International Child Neurology Association. London: Mac Keith Press; 2006. p. 1–18.Google Scholar
  2. 2.
    Frazier TW, Youngstrom EA, Speer L, et al. Validation of proposed DSM-5 criteria for autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2012;51:28–40.e3.CrossRefPubMedGoogle Scholar
  3. 3.
    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. 2012;51:41–50.CrossRefPubMedGoogle Scholar
  4. 4.
    American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: American Psychiatric Association; 1994.Google Scholar
  5. 5.
    American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed.-text revision (TR). Washington, DC: American Psychiatric Association; 2000.Google Scholar
  6. 6.
    American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Washington, DC: American Psychiatric Association; 2013.Google Scholar
  7. 7.
    Volkmar FR, Reichow B, McParland J. Classification of autism and related conditions: progress, challenges, and opportunities. Dialogues Clin Neurosci. 2012;14:229–37.PubMedPubMedCentralGoogle Scholar
  8. 8.
    Volkmar FR, State M, Klin A. Autism and autism spectrum disorders: diagnostic issues for the coming decade. J Child Psychol Psychiatry. 2009;50:108–15.CrossRefPubMedGoogle Scholar
  9. 9.
    Kanner L. Autistic disturbances of affective contact. Nervous Child. 1943;2:217–50.Google Scholar
  10. 10.
    Olmsted D, Blaxill M. Leo Kanner's mention of 1938 in his report on autism refers to his first patient. J Autism Dev Disord. 2016;46:340–1.CrossRefPubMedGoogle Scholar
  11. 11.
    Asperger H. Die autistischen psychopathen im Kindesalter. Arch fur Psychiatrie und Nerven Krankheiten. 1944;117:76–136.Google Scholar
  12. 12.
    Heilpädagogik AH. Einführung in die psychopathologie des KindesfürÄrzte, Lehrer, psychologen und Fürsorgerinnen. Wien: Springer; 1952.Google Scholar
  13. 13.
    Fellowes S. Did Kanner actually describe the first account of autism? The mystery of 1938. J Autism Dev Disord. 2015;45:2274–6.Google Scholar
  14. 14.
    Frith U, Morton J, Leslie AM. The cognitive basis of a biological disorder: autism. Trends Neurosci. 1991;14:433–8.CrossRefPubMedGoogle Scholar
  15. 15.
    Brumback RA, Harper CR, Weinberg WA. Nonverbal learning disabilities, Asperger’s syndrome, pervasive developmental disorder: should we care? J Child Neurol. 1996;11:427–9.CrossRefPubMedGoogle Scholar
  16. 16.
    Klin A, Volkmar FR, Sparrow SS, Cicchetti DV, Rourke BP. Validity and neuropsychological characterization of Asperger syndrome: convergence with nonverbal learning disabilities syndrome. J Child Psychol Psychiatry Allied Discipl. 1995;36:1127–40.CrossRefGoogle Scholar
  17. 17.
    Rourke BP, Tsatsanis KD. Nonverbal learning disabilities and Asperger syndrome. In: Klin A, Volkmar FR, editors. Asperger syndrome. New York, NY: The Guilford Press; 2000. p. 231–53.Google Scholar
  18. 18.
    Baker JP. Autism at 70 -redrawing the boundaries. N Engl J Med. 2013;369:1089–91.CrossRefPubMedGoogle Scholar
  19. 19.
    Volkmar FR, Nelson DS. Seizure disorders in autism. J Am Acad Child Adolesc Psychiatry. 1990;29:127–9.CrossRefPubMedGoogle Scholar
  20. 20.
    Folstein SE. Genetic aspects of infantile autism. Annu Rev Med. 1985;36:415–9.CrossRefPubMedGoogle Scholar
  21. 21.
    Rutter M. Childhood schizophrenia reconsidered. J Autism Child Schizophrenia. 1972;2:315–37.CrossRefGoogle Scholar
  22. 22.
    Kolvin I. Studies in the childhood psychoses. I. Diagnostic criteria and classification. Br J Psychiatry. 1971;118:381–4.CrossRefPubMedGoogle Scholar
  23. 23.
    Johnston MV, Blue ME. Neurobiology of autism. In: Tuchman R, Rapin I, editors. Autism: A Neurological Disorder of Early Brain Development, International Child Neurology Association. London: Mac Keith Press; 2006. p. 79–92.Google Scholar
  24. 24.
    Herbert MR, Caviness VS. Neuroanatomy and imaging studies. In: Tuchman R, Rapin I, editors. Autism: A Neurological Disorder of Early Brain Development, International Child Neurology Association. London: Mac Keith Press; 2006. p. 115–40.Google Scholar
  25. 25.
    American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 3rd ed. Washington, DC: American Psychiatric Association; 1980.Google Scholar
  26. 26.
    Hippler K, Klicpera C. A retrospective analysis of the clinical case records of ‘autistic psychopaths’ diagnosed by Hans Asperger and his team at the university Children’s hospital, Vienna. Philos Trans R Soc Lond Biol Sci. 2003;358:291–301.CrossRefGoogle Scholar
  27. 27.
    Kirk SA, Kutchins H. The myth of the reliability of DSM. J Mind Behav. 1994;15:71–86.Google Scholar
  28. 28.
    Mintz M, Chadehumbe M, Barabas R, et al. The clinical utility of relevant exome panels for autism spectrum disorders and intellectual disabilities. Ann Neurol. 2014;76:S246. (Poster Presentation at the 43rdAnnual Meeting of the Child Neurology Society, Columbus, Ohio, 2014).Google Scholar
  29. 29.
    Eapen V, Črnčec R, Walter A. Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioral intervention in autism spectrum disorder. Front Hum Neurosci. 2013;7:567.CrossRefPubMedPubMedCentralGoogle Scholar
  30. 30.
    Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014;6:265ra168.CrossRefPubMedPubMedCentralGoogle Scholar
  31. 31.
    Mintz M, Allesandri M, Curatolo P. Treatment approaches for autistic spectrum disorders. In: Tuchman R, Rapin I, editors. Autism: A Neurological Disorder of Early Brain Development, International Child Neurology Association. London: Mac Keith Press; 2006. p. 281–307.Google Scholar
  32. 32.
    Iwata BA, Dorsey MF, Slifer KJ, Bauman KE, Richman GS. Toward a functional analysis of self-injury. J Appl Behav Anal. 1994;27:197–209.CrossRefPubMedPubMedCentralGoogle Scholar
  33. 33.
    Beavers GA, Iwata BA, Lerman DC. Thirty years of research on the functional analysis of problem behavior. J Appl Behav Anal. 2013;46:1–21.Google Scholar
  34. 34.
    Kasari C, Brady N, Lord C, Tager-Flusberg H. Assessing the minimally verbal school-aged child with autism spectrum disorder. Autism Res. 2013;6:479–93.CrossRefPubMedPubMedCentralGoogle Scholar
  35. 35.
    Visser EM, Berger HJ, Van Schrojenstein Lantman-De valk HM, et al. Cognitive shifting and externalising problem behaviour in intellectual disability and autism spectrum disorder. J Intellect Disabil Res. 2015;59:755–66.Google Scholar
  36. 36.
    Sansa G, Carlson C, Doyle W, et al. Medically refractory epilepsy in autism. Epilepsia. 2011;52:1071–5.CrossRefPubMedGoogle Scholar
  37. 37.
    Roulet-Perez E, Deonna. Autism, Epilepsy and EEG Epileptiform Activity. In: Tuchman RF, Rapin I, editors. Autism: A Neurological Disorder of Early Brain Development, International Child Neurology Association. London: Mac Keith Press; 2006. p. 174–88.Google Scholar
  38. 38.
    Yasuhara A. Correlation between EEG abnormalities and symptoms of autism spectrum disorder (ASD). Brain Dev. 2010;32:791–8.Google Scholar
  39. 39.
    Mintz M, LeGoff D, Scornaienchi J, et al. The underrecognized epilepsy spectrum: the effects of levetiracetam on neuropsychological functioning in relation to subclinical spike production. J Child Neurol. 2009;24:807–15.CrossRefPubMedGoogle Scholar
  40. 40.
    Mintz M, Szklarski L, Chadehumbe M, et al. Unexpected subclinical spikes: clinical and neurophysiological correlations. Abstract No. 2.016. In: American Epilepsy Society annual meeting, www.aesnet.org. Washington: Seattle; 2014.Google Scholar
  41. 41.
    Tuchman RF, Rapin I. Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates. Pediatrics. 1997;99:560–6.CrossRefPubMedGoogle Scholar
  42. 42.
    Nass R, Devinsky O. Autistic regression with rolandic spikes. Neuropsychiatry Neuropsychol Behav Neurol. 1999;12:193–7.PubMedGoogle Scholar
  43. 43.
    Sanchez Fernandez I, Loddenkemper T, Galanopoulou AS, Moshe SL. Should epileptiform discharges be treated? Epilepsia. 2015;56:1492–504.CrossRefPubMedGoogle Scholar
  44. 44.
    Chapman KE, Specchio N, Shinnar S, Holmes GL. Seizing control of epileptic activity can improve outcome. Epilepsia. 2015;56:1482–5.CrossRefPubMedGoogle Scholar
  45. 45.
    Szklarski L, Mintz M. Dense-array electroencephalography (dEEG) improves compliance and acquisition without sedation or restraint for children and adults with behavioral challenges. Abstract No. 3.133. In: American Epilepsy Society Annual Meeting, www.aesnet.org. Pennsylvania: Philadelphia; 2015.Google Scholar
  46. 46.
    Nikolov RN, Bearss KE, Lettinga J, et al. Gastrointestinal symptoms in a sample of children with pervasive developmental disorders. J Autism Dev Disord. 2009;39:405–13.CrossRefPubMedGoogle Scholar
  47. 47.
    Valicenti-McDermott MD, McVicar K, Cohen HJ, et al. Gastrointestinal symptoms in children with an autism spectrum disorder and language regression. Pediatr Neurol. 2008;39:392–8.CrossRefPubMedGoogle Scholar
  48. 48.
    Buie T, Campbell DB, Fuchs GJ 3rd, et al. Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics. 2010;125:S1–18.Google Scholar
  49. 49.
    Buie T, Fuchs GJ 3rd, Furuta GT, et al. Recommendations for evaluation and treatment of common gastrointestinal problems in children with ASDs. Pediatrics. 2010a;125:S19–29.Google Scholar
  50. 50.
    Buie T. Potential etiologic factors of microbiome disruption in autism. Clin Ther. 2015;37:976–83.CrossRefPubMedGoogle Scholar
  51. 51.
    Zimmerman AW, Connors SL, Matteson KJ, et al. Maternal antibrain antibodies in autism. Brain Behav Immun. 2007;21:351–7.CrossRefPubMedGoogle Scholar
  52. 52.
    Fatemi SH, Stary JM, Halt AR, Reatmuto GR. Dysregulation of reelin and bcl-2 proteins in autistic cerebellum. J Autism Dev Disord. 2001;31:529–35.CrossRefPubMedGoogle Scholar
  53. 53.
    Jyonouchi H, Sun S, Itokazu N. Innate immunity associated with inflammatory responses and cytokine production against common dietary proteins in patients with autism spectrum disorders. Neuropsychobiology. 2002;46:76–84.CrossRefPubMedGoogle Scholar
  54. 54.
    Jyonouchi H, Geng L, Ruby A, et al. Dysregulated innate immune responses in young children with autism spectrum disorders: their relationship to gastrointestinal symptoms and dietary intervention. Neuropsychobiology. 2005;51:77–85.CrossRefPubMedGoogle Scholar
  55. 55.
    Sadamatsu M, Kanai H, Xu X, et al. Review of animal models for autism: implication of thyroid hormone. Congenit Anom. 2006;46:1–9.CrossRefGoogle Scholar
  56. 56.
    Roman GC. Autism: transient in utero hypothyroxinemia related to maternal flavonoid ingestion during pregnancy and to other environmental antithyroid agents. J Neurol Sci. 2007;262:15–26.CrossRefPubMedGoogle Scholar
  57. 57.
    Stein TP, Schluter MD, Steer RA, et al. Bisphenol A exposure in children with autism spectrum disorders. Autism Res. 2015;8:272–83.CrossRefPubMedPubMedCentralGoogle Scholar
  58. 58.
    Ming X, Julu PO, Brimacombe M, Connor S, Daniels ML. Reduced cardiac parasympathetic activity in children with autism. Brain Dev. 2005;27:509–16.Google Scholar
  59. 59.
    Zaki EA, Freilinger T, Klopstock T. Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome. Cephalalgia. 2009;29:719–28.CrossRefPubMedGoogle Scholar
  60. 60.
    van Engeland H. The electrodermal orienting response to auditive stimuli in autistic children, normal children, mentally retarded children, and child psychiatric patients. J Autism Dev Disord. 1984;14:261–79.Google Scholar
  61. 61.
    Ming X, Brimacombe M, Chaaban J, Zimmerman-Bier B, Wganer GG. Autism spectrum disorders: concurrent clinical disorders. J Child Neurol. 2008;23:6–13.CrossRefGoogle Scholar
  62. 62.
    Ming X, Stein TP, Barnes V, Rhodes N, Guo L. Metabolic perturbance in autism spectrum disorders: a metabolomics study. J Proteome Res. 2012;11:5856–62.PubMedGoogle Scholar
  63. 63.
    Williams PG, Sears LL, Allard A. Sleep problems in children with autism. J Sleep Res. 2004;13:265–8.CrossRefGoogle Scholar
  64. 64.
    Malow BA, Marzec ML, McGrew SG, et al. Characterizing sleep in children with autism spectrum disorders: a multidimensional approach. Sleep. 2006;29:1563–71.PubMedGoogle Scholar
  65. 65.
    Schreck KA, Mulick JA, Smith AF. Sleep problems as possible predictors of intensified symptoms of autism. Res Dev Disabil. 2004;25:57–66.CrossRefPubMedGoogle Scholar
  66. 66.
    Ming X, Walters AS. Autism spectrum disorders, attention deficit/hyperactivity disorder, and sleep disorders. Curr Opin Pulm Med. 2009;15:578–84.CrossRefPubMedGoogle Scholar
  67. 67.
    Wiggs L, Stores G. Sleep patterns and sleep disorders in children with autistic spectrum disorders: insights using parent report and actigraphy. Dev Med Child Neurol. 2004;46:372–80.CrossRefPubMedGoogle Scholar
  68. 68.
    Johnson KP, Malow BA. Sleep in children with autism spectrum disorders. Curr Neurol Neurosci Rep. 2008;8:155–61.CrossRefPubMedGoogle Scholar
  69. 69.
    Lu JT, Campeau PM, Lee BH. Genotype-phenotype correlation- promiscuity in the era of next-generation sequencing. N Engl J Med. 2014;371:593–6.CrossRefPubMedGoogle Scholar
  70. 70.
    Srivastava S, Cohen JS, Vernon H, et al. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014;76:473–83.CrossRefPubMedGoogle Scholar
  71. 71.
    Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013;369:1502–11.CrossRefPubMedPubMedCentralGoogle Scholar
  72. 72.
    Gardner A, Boles RG. Comment on treatment of psychiatric illness in patients with mitochondrial disease. Psychosomatics. 2011;52:497–8.CrossRefPubMedGoogle Scholar
  73. 73.
    Verge B, Alonso Y, Miralles C. New evidence for the involvement of mitochondrial inheritance in schizophrenia: results from a cross-sectional study evaluating the risk of illness in relatives of schizophrenia patients. J Clin Psychiatry. 2012;73:684–90.CrossRefPubMedGoogle Scholar
  74. 74.
    Gardner A, Boles RG. Mitochondrial energy depletion in depression with somatization. Psychother Psychosom. 2008;77:127–9.CrossRefPubMedGoogle Scholar
  75. 75.
    Burnett BB, Gardner A, Boles RG. Mitochondrial inheritance in depression, dysmotility and migraine? J Affect Disord. 2005;88:109–16.CrossRefPubMedGoogle Scholar
  76. 76.
    Legido A, Jethva R, Goldenthal MJ. Mitochondrial dysfunction in autism. Semin Pediatr Neurol. 2013;20:163–75.CrossRefPubMedGoogle Scholar
  77. 77.
    Singh NA, Pappas C, Dahle EJ, et al. A role of SCN9A in human epilepsies, as a case of febrile seizure and as a potential modifier of Dravet syndrome. PLoS Genet. 2009;5:1–12.CrossRefGoogle Scholar
  78. 78.
    Goldenthal MJ, Kuruvilla T, Damle S, et al. Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: comparison with studies in muscle biopsy. Mol Genet Metab. 2012;105:457–62.CrossRefPubMedGoogle Scholar
  79. 79.
    Camilleri M, Carlson P, Zinsmeister AR, et al. Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders. Am J Physiol Gastrointest Liver Physiol. 2009;296:G510–6.CrossRefPubMedGoogle Scholar
  80. 80.
    Boles RG. High degree of efficacy in the treatment of cyclic vomiting syndrome with combined co-enzyme Q10, L-carnitine and amitriptyline, a case series. BMC Neurol. 2011;11:102.CrossRefPubMedPubMedCentralGoogle Scholar
  81. 81.
    Curtis LT, Patel K. Nutritional and environmental approaches to preventing and treating autism and attention deficit hyperactivity disorder (ADHD): a review. J Altern Complement Med. 2008;14:79–85.CrossRefPubMedGoogle Scholar
  82. 82.
    Frye RE, Sequeira JM, Quadros EV, James SJ, Rossignol DA. Cerebral folate receptor autoantibodies in autism spectrum disorder. Mol Psychiatry. 2013;18:369–81.CrossRefPubMedGoogle Scholar
  83. 83.
    Frye RE, Delatorre R, Taylor H, et al. Redox metabolism abnormalities in autistic children associated with mitochondrial disease. Transl Psychiatry. 2013;3:e273.CrossRefPubMedPubMedCentralGoogle Scholar
  84. 84.
    Offit PA. Autism’s false prophets. New York: Columbia University Press; 2008.CrossRefGoogle Scholar
  85. 85.
    Zwaigenbaum L, Bauman ML, Fein D, et al. Early screening of autism spectrum disorder: recommendations for practice and research. Pediatrics. 2015;136:S41.CrossRefPubMedGoogle Scholar
  86. 86.
    Zwaigenbaum L, Bauman ML, Choueiri R, et al. Early intervention for children with autism spectrum disorder under 3 years of age: recommendations for practice and research. Pediatrics. 2015;136:S60-81.Google Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2016

Authors and Affiliations

  1. 1.The Center for Neurological and Neurodevelopmental HealthVoorheesUSA

Personalised recommendations