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Medical comorbidities in autism: Challenges to diagnosis and treatment

Summary

Ever since its original description by Leo Kanner in 1943, autism has been generally defined by its clinical characteristics and core symptoms that include impaired social skills, isolated areas of interest, and delayed and disordered language. Over time, it has become apparent that autism is a heterogeneous disorder with regard to its clinical presentation, etiology, underlying neurobiology, and degree of severity. As a result, the termed diagnosis of autism spectrum disorders (ASDs) has come into common usage. With advancements in clinical care, there has come the appreciation that many ASD children, adolescents, and adults may have medically relevant disorders that may negatively impact their developmental progress and behavior, but which frequently go undetected. Many of these medical conditions are treatable, often resulting in improved developmental gains and quality of life for the patient and family. In addition, the possibility exists that some of these medical conditions may suggest the presence of important genetic and/or biologic markers, which, if identified, can refine our ability to be more precise in categorizing clinical and genetic subtypes within the autism spectrum.

References

  1. 1.

    Kanner L. Autistic disturbances of affective contact. Nervous Child 1943;2: 217–50.

    Google Scholar 

  2. 2.

    American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, 4th edit (DSM-IV). Washington DC: APA, 1994.

  3. 3.

    Newschaffer CJ, Croen LA, Daniels J, et al. The epidemiology of autism spectrum disorders. Annu Rev Public Health 2007;28: 235–258.

    Article  PubMed  Google Scholar 

  4. 4.

    Ming X, Brimacombe M, Wagner GC. Prevalence of motor impairment in autism spectrum disorders. Brain Dev 2007;29: 565–570.

    Article  PubMed  Google Scholar 

  5. 5.

    Lainhart JE, Bigler ED, Bocian M, et al. Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism. Am J Med Genet A 2006;140: 2257–2274.

    PubMed  Google Scholar 

  6. 6.

    Landa RJ, Garrett-Mayer E. Development of infants with autism spectrum disorders: a prospective study. J Child Psychol Psychiatry 2006;47: 629–638.

    Article  PubMed  Google Scholar 

  7. 7.

    Landa RJ. Diagnosis of autism spectrum disorders in the first 3 years of life. Nat Clin Pract Neurol 2008;4: 138–147.

    Article  PubMed  Google Scholar 

  8. 8.

    Lauritsen MB, Pedersen CB, Mortensen PB. Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. J Child Psychol Psychiatry 2005;46: 963–971.

    Article  PubMed  Google Scholar 

  9. 9.

    Minshew NJ, Sweeney JA, Bauman ML. Neurologic aspects of autism. In: Cohen DJ, Volkmar FR, eds. Handbook of autism and pervasive developmental disorders, 2nd ed. New York: Wiley, 1997: 344–369.

    Google Scholar 

  10. 10.

    Rapin I. Historical data. In: Rapin I, ed. Preschool children with inadequate communication: developmental language disorder, autism, low IQ. London: MacKeith, 1996: 98–122.

    Google Scholar 

  11. 11.

    Tuchman RF, Rapin I, Shinnar S. Autistic and dysphasic children. II: Epilepsy. Pediatrics 1999;88: 1219–1225.

    Google Scholar 

  12. 12.

    Volkmar FR, Nelson DS. Seizure disorders in autism. J Amer Acad Child Adolesc Psychiatry 1990;29: 127–129.

    CAS  Article  Google Scholar 

  13. 13.

    Rossi PG, Parmeggian A, Bach V, Santucci M, Visconti P. EEG features and epilepsy in patients with autism. Brain Dev 1995;17: 169–174.

    CAS  Article  PubMed  Google Scholar 

  14. 14.

    Buie T. Gastrointestinal issues encountered in autism In: Bauman ML, Kemper TL, eds. The neurobiology of autism. Johns Hopkins University Press: Baltimore, 2005: 103–117.

    Google Scholar 

  15. 15.

    Spence SJ, Schneider MT. The role of epilepsy and epileptiform EEGs in autism spectrum disorders. Pediatr Res 2009;65: 599–606.

    Article  PubMed  Google Scholar 

  16. 16.

    Ming X, Brimacombe M, Chaaban J, et al. Autism spectrum disorders: concurrent clinical disorders. J Child Neurol 2008;23: 6–13.

    Article  Google Scholar 

  17. 17.

    Richdale AL. Sleep problems in autism: prevalence, cause and intervention. Dev Med Child Neurol 1999;41: 60–66.

    CAS  Article  PubMed  Google Scholar 

  18. 18.

    Johnson KP, Giannotti F, Cortesi F. Sleep patterns in autism spectrum disorders. Child Adolesc Psychiatric Clin N Am 2009;18: 917–928.

    Article  Google Scholar 

  19. 19.

    Ferber R. Childhood sleep disorders. Neurol Clinics 1996;14: 493–511.

    CAS  Article  Google Scholar 

  20. 20.

    Malow BA, Marzec ML, McGrew SG, Wang L, Henderson LM, Stone WI. Characterizing sleep in children with autism spectrum disorders: a multidimensional approach. Sleep 2006;28: 1559–1567.

    Google Scholar 

  21. 21.

    Richadale AL, Schreck KA. Sleep problems in autism spectrum disorders: prevalence, nature and possible biopsychosocial aetiologies. Sleep Med Rev 2009;13: 403–411.

    Article  Google Scholar 

  22. 22.

    Owens J, Opipari L, Nobile C, Spirito A. Sleep and daytime behavior in children with obstructive apnea and behavioral sleep disorders. Pediatrics 1998;102: 1178–1184.

    CAS  Article  PubMed  Google Scholar 

  23. 23.

    Buie T, Fuchs GJ, Furuta GT, et al. Recommendations for evaluation and treatment of common gastrointestinal problems in children with ASDs. Pediatrics 2010;125(suppl): S19-S29.

    Article  PubMed  Google Scholar 

  24. 24.

    Buie T, Campbell DB, Fuchs GJ, et al. Evaluation, diagnosis and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics 2010;125(suppl): S1-S18.

    Article  PubMed  Google Scholar 

  25. 25.

    Buie T. Clinical presentation of gastrointestinal disorders in nonverbal ASD children. Unpublished data, 2009.

  26. 26.

    Campbell DB, Buie TM, Winter H, et al. Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions. Pediatrics 2009;123: 1018–1024.

    Article  PubMed  Google Scholar 

  27. 27.

    Von Kamebeck CD, Jansweijer MC, Leenders AG, et al. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 2005;13: 6–25.

    Article  Google Scholar 

  28. 28.

    Engbers HM, Berger R, van Hasselt P, et al. Yield of additional metabolic studies in neurodevelopmental disorders. Ann Neurol 2008;64: 212–217.

    Article  PubMed  Google Scholar 

  29. 29.

    Nasrallah F, Feki M Kaabachi N. Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Ped Neurol 2010;42: 1–13.

    Article  Google Scholar 

  30. 30.

    Gorker I, Tuzun O. Autistic-like findings associated with a urea cycle disorder I a 4-year old girl. J Psychiatry Neurosci 2005;30: 133–135.

    PubMed  Google Scholar 

  31. 31.

    Trauner DA. Cognitive and behavioral manifestations of metabolic and chromosomal disorders. In: Frank Y, ed. Pediatric behavioral neurology. New York: CRC Press, 1996: 251–268.

    Google Scholar 

  32. 32.

    Wallace DC, Fan W, Procaccio V. Mitochondrial energetics and therapeutics. Annu Rev Pathol Mech 2010;5: 297–348.

    CAS  Article  Google Scholar 

  33. 33.

    Oliveira G, Diogo L, Grazina M, et al. Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Dev Med Child Neurol 2005;47: 185–189.

    CAS  Article  PubMed  Google Scholar 

  34. 34.

    Weissman JR, Kelley RI, Bauman ML, et al. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis. PLos ONE (serial online) 2008;3: e3815. Available at: www.plosone.org. Accessed December 2008.

    Article  Google Scholar 

  35. 35.

    Bukelis I, Porter FD, Zimmerman AW, Tiemey E. Smith-Lemli-Opitz syndrome and autism spectrum disorder. Am J Psychiatry 2007;164: 1655–1661.

    Article  PubMed  Google Scholar 

  36. 36.

    Kelley RI, Hannekam RCH, Smith-Lemli-Opitz syndrome. In: Scriver CR, Beaudet AL, Valle D, Sly WS, eds. The metabolic and molecular basis of inherited disease, 8th edit. New York: McGraw Hill, 2001: 6183–6201.

    Google Scholar 

  37. 37.

    Aneia A, Tiemey E. Autism: the role of cholesterol in treatment. Int Rev Psychiatry 2008;20: 165–170.

    Article  Google Scholar 

  38. 38.

    Herzog A. Hormonal abnormalities may be present in a subset of girls with ASD. Unpublished data, 2008.

  39. 39.

    Carr EG, Smith CE, Glacin TA, Whelan BM, Pancari J. Menstrual discomfort as a biological setting event for severe problem behaviors: assessment and intervention. Am J Mental Retard 2003;108: 117–133.

    Article  Google Scholar 

  40. 40.

    Burke LM, Kalpakjian CZ, Smith YR, Quint EH. Gynecological issues of adolescents with Down syndrome, autism, and cerebral palsy. J Pediatr Adolesc Gynecol 2010;23: 11–15.

    Article  PubMed  Google Scholar 

  41. 41.

    Hediger ML, England LJ, Molloy CA, Yu KF, Manning-Courtney P, Mills JL. Reduced bone cortical thickness in boys with autism or autism spectrum disorder. J Aut Dev Disord 2008;38: 848–856.

    Article  Google Scholar 

  42. 42.

    Curtin C, Bandini LG, Perrin EC, Tyboi DJ, Must A. Prevalence of overweight in children and adolescents with attention deficit hyperactivity disorder and autism spectrum disorders: a chart review. BMC Pediatr 2005;5: 48–58.

    Article  PubMed  Google Scholar 

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Correspondence to Margaret L. Bauman.

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Bauman, M.L. Medical comorbidities in autism: Challenges to diagnosis and treatment. Neurotherapeutics 7, 320–327 (2010). https://doi.org/10.1016/j.nurt.2010.06.001

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Key Words

  • Autism
  • medical conditions
  • atypical behaviors
  • diagnosis
  • management