The co-morbidity burden of children and young adults with autism spectrum disorders

Isaac S Kohane, Andrew McMurry, Griffin Weber, Douglas MacFadden, Leonard Rappaport, Louis Kunkel, Jonathan Bickel, Nich Wattanasin, Sarah Spence, Shawn Murphy, Susanne Churchill, Isaac S Kohane, Andrew McMurry, Griffin Weber, Douglas MacFadden, Leonard Rappaport, Louis Kunkel, Jonathan Bickel, Nich Wattanasin, Sarah Spence, Shawn Murphy, Susanne Churchill

Abstract

Objectives: Use electronic health records Autism Spectrum Disorder (ASD) to assess the comorbidity burden of ASD in children and young adults.

Study design: A retrospective prevalence study was performed using a distributed query system across three general hospitals and one pediatric hospital. Over 14,000 individuals under age 35 with ASD were characterized by their co-morbidities and conversely, the prevalence of ASD within these comorbidities was measured. The comorbidity prevalence of the younger (Age<18 years) and older (Age 18-34 years) individuals with ASD was compared.

Results: 19.44% of ASD patients had epilepsy as compared to 2.19% in the overall hospital population (95% confidence interval for difference in percentages 13.58-14.69%), 2.43% of ASD with schizophrenia vs. 0.24% in the hospital population (95% CI 1.89-2.39%), inflammatory bowel disease (IBD) 0.83% vs. 0.54% (95% CI 0.13-0.43%), bowel disorders (without IBD) 11.74% vs. 4.5% (95% CI 5.72-6.68%), CNS/cranial anomalies 12.45% vs. 1.19% (95% CI 9.41-10.38%), diabetes mellitus type I (DM1) 0.79% vs. 0.34% (95% CI 0.3-0.6%), muscular dystrophy 0.47% vs 0.05% (95% CI 0.26-0.49%), sleep disorders 1.12% vs. 0.14% (95% CI 0.79-1.14%). Autoimmune disorders (excluding DM1 and IBD) were not significantly different at 0.67% vs. 0.68% (95% CI -0.14-0.13%). Three of the studied comorbidities increased significantly when comparing ages 0-17 vs 18-34 with p<0.001: Schizophrenia (1.43% vs. 8.76%), diabetes mellitus type I (0.67% vs. 2.08%), IBD (0.68% vs. 1.99%) whereas sleeping disorders, bowel disorders (without IBD) and epilepsy did not change significantly.

Conclusions: The comorbidities of ASD encompass disease states that are significantly overrepresented in ASD with respect to even the patient populations of tertiary health centers. This burden of comorbidities goes well beyond those routinely managed in developmental medicine centers and requires broad multidisciplinary management that payors and providers will have to plan for.

Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1. Prevalence of co-morbidities of autism…
Figure 1. Prevalence of co-morbidities of autism and prevalence of autism in these comorbidities.
Shown here is the prevalence of co-morbidities for individuals with autism (denoted as p(Dx}Autism) where Dx is the co-morbidity) and the reciprocal prevalence of autism given the co-morbidity (i.e. p(Autism|Dx)). The prevalence is reported for patients younger than 35 years old. These results are consistent with prior studies and also reinforce that monogenic disorders associated with autism individually only account for a small fraction of the disorder. It also reinforces that autism is present in over 5% of the individuals evaluated for CNS anomalies, epilepsy, muscular dystrophy, schizophrenia, Fragile X Syndrome and Tuberous Sclerosis.
Figure 2. Comorbidities in autism vs same…
Figure 2. Comorbidities in autism vs same morbidities in the general hospital population.
All co-morbities have a significantly different proportion in the ASD population (p

Figure 3. Comorbidities of ASD in younger…

Figure 3. Comorbidities of ASD in younger (0–17 years) vs older (18–34 years).

All the…

Figure 3. Comorbidities of ASD in younger (0–17 years) vs older (18–34 years).
All the comorbidities' prevalence were significantly different (pexcept for bowel disorders, epilepsy, autoimmune disorders (excluding IBD and DM1) and sleep disorders.
Figure 3. Comorbidities of ASD in younger…
Figure 3. Comorbidities of ASD in younger (0–17 years) vs older (18–34 years).
All the comorbidities' prevalence were significantly different (pexcept for bowel disorders, epilepsy, autoimmune disorders (excluding IBD and DM1) and sleep disorders.

References

    1. Horvath K, Papadimitriou J, Rabsztyn A, Drachenberg C, Tildon J. Gastrointestinal abnormalities in children with autistic disorder. The Journal of pediatrics. 1999;135:559–563.
    1. Mouridsen SE, Rich B, Isager T. The natural history of somatic morbidity in disintegrative psychosis and infantile autism: a validation study. Brain Dev. 1999;21:447–452.
    1. Mouridsen SE, Rich B, Isager T. Psychiatric morbidity in disintegrative psychosis and infantile autism: A long-term follow-up study. Psychopathology. 1999;32:177–183.
    1. Mouridsen SE, Rich B, Isager T. Epilepsy in disintegrative psychosis and infantile autism: a long-term validation study. Dev Med Child Neurol. 1999;41:110–114.
    1. Horvath K, Perman JA. Autistic disorder and gastrointestinal disease. Curr Opin Pediatr. 2002;14:583–587.
    1. Tuchman R, Rapin I. Epilepsy in autism. The Lancet Neurology. 2002;1:352–358.
    1. Ming X, Brimacombe M, Chaaban J, Zimmerman-Bier B, Wagner GC. Autism spectrum disorders: concurrent clinical disorders. Journal of Child Neurology. 2008;23:6–13.
    1. Bauman ML. Medical comorbidities in autism: challenges to diagnosis and treatment. Neurotherapeutics. 2010;7:320–327.
    1. Charlot L, Abend S, Ravin P, Mastis K, Hunt A, et al. Non-psychiatric health problems among psychiatric inpatients with intellectual disabilities. J Intellect Disabil Res. 2011;55:199–209.
    1. Berlin KS, Lobato DJ, Pinkos B, Cerezo CS, LeLeiko NS. Patterns of medical and developmental comorbidities among children presenting with feeding problems: a latent class analysis. J Dev Behav Pediatr. 2011;32:41–47.
    1. Harrington JW. The actual prevalence of autism: are we there yet? Pediatrics. 2010;126:e1257–1258.
    1. Guterman S, Davis K, Schoenbaum S, Shih A. Using Medicare payment policy to transform the health system: a framework for improving performance. Health affairs (Project Hope) 2009;28:w238–w250.
    1. Richdale AL, Schreck KA. Sleep problems in autism spectrum disorders: Prevalence, nature, & possible biopsychosocial aetiologies. Sleep Medicine Reviews. 2009;13:403–411.
    1. Ming X, Brimacombe M, Chaaban J. Autism spectrum disorders: concurrent clinical disorders. Journal of Child Neurology. 2008;23:6–13.
    1. Coury D. Medical treatment of autism spectrum disorders. Curr Opin Neurol. 2010;23:131–136.
    1. Smith RD. Abnormal head circumference in learning-disabled children. Dev Med Child Neurol. 1981;23:626–632.
    1. Wu JY, Kuban KCK, Allred E, Shapiro F, Darras BT. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol. 2005;20:790–795.
    1. Young HK, Barton BA, Waisbren S, Portales Dale L, Ryan MM, et al. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol. 2008;23:155–162.
    1. Hendriksen JGM, Vles JSH. Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive–compulsive disorder. J Child Neurol. 2008;23:477–481.
    1. Hinton VJ, Cyrulnik SE, Fee RJ, Batchelder A, Kiefel JM, et al. Association of autistic spectrum disorders with dystrophinopathies. Pediatr Neurol. 2009;41:339–346.
    1. Morgan CN, Roy M, Chance P. Psychiatric comorbidity and medication use in autism: a community survey. Psychiatric Bulletin. 2003;27:378–381.
    1. Weber GM, Murphy SN, McMurry AJ, Macfadden D, Nigrin DJ, et al. The Shared Health Research Information Network (SHRINE): A prototype federated query tool for clinical data repositories. J Am Med Inform Assoc. 2009;16:624–630.
    1. Murphy SN, Mendis ME, Berkowicz DA, Kohane IS, Chueh HC. AMIA Annu Symp Proc; 2006. Integration of Clinical and Genetic Data in the i2b2 Architecture.1040
    1. Gainer V, Hackett K, Mendis M, Kuttan R, Pan W, et al. AMIA Annu Symp Proc; 2007. Using the i2b2 hive for clinical discovery: an example.959
    1. Brownstein JS, Murphy SN, Goldfine AB, Grant RW, Sordo M, et al. Rapid identification of myocardial infarction risk associated with diabetes medications using electronic medical records. Diabetes Care. 2010;33:526–531.
    1. Liao KP, Cai T, Gainer V, Goryachev S, Zeng-Treitler Q, et al. Electronic medical records for discovery research in rheumatoid arthritis. Arthritis Care Res (Hoboken) 2010;62:1120–1127.
    1. Murphy SN, Weber G, Mendis M, Gainer V, Chueh HC, et al. Serving the enterprise and beyond with informatics for integrating biology and the bedside (i2b2). J Am Med Inform Assoc. 2010;17:124–130.
    1. Kohane I, Uzuner O. No Structure Before Its Time. J Am Med Inform Assoc. 2008;15:708.
    1. Uzuner O, Goldstein I, Luo Y, Kohane I. Identifying patient smoking status from medical discharge records. Journal of the American Medical Informatics Association: JAMIA. 2008;15:14–24.
    1. Uzuner O, Luo Y, Szolovits P. Evaluating the State-of-the-Art in Automatic De-identification. J Am Med Inform Assoc. 2007;14:550–563.
    1. Campbell PG, Malone J, Yadla S, Chitale R, Nasser R, et al. Comparison of ICD-9-based, retrospective, and prospective assessments of perioperative complications: assessment of accuracy in reporting. J Neurosurg Spine. 2011;14:16–22.
    1. Dismuke CE. Underreporting of computed tomography and magnetic resonance imaging procedures in inpatient claims data. Med Care. 2005;43:713–717.
    1. Gabbay V, Coffey BJ, Babb JS, Meyer L, Wachtel C, et al. Pediatric autoimmune neuropsychiatric disorders associated with streptococcus: comparison of diagnosis and treatment in the community and at a specialty clinic. Pediatrics. 2008;122:273–278.
    1. Boyer GS, Templin DW, Bowler A, Lawrence RC, Everett DF, et al. A comparison of patients with spondyloarthropathy seen in specialty clinics with those identified in a communitywide epidemiologic study. Has the classic case misled us? Arch Intern Med. 1997;157:2111–2117.
    1. World Health Organization (WHO) International Statistical Classification of Diseases and Related Health Problems: 10th Revision. 2007.
    1. Jha AK, DesRoches CM, Campbell EG, Donelan K, Rao SR, et al. Use of electronic health records in U.S. hospitals. N Engl J Med. 2009;360:1628–1638.
    1. Abrahams B, Geschwind D. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. 2008;9:341–355.
    1. Murphy S, Churchill S, Bry L, Chueh H, Weiss S, et al. Instrumenting the health care enterprise for discovery research in the genomic era. Genome Res. 2009;19:1675–1681.
    1. Black C, Kaye JA, Jick H. Relation of childhood gastrointestinal disorders to autism: nested case-control study using data from the UK General Practice Research Database. BMJ. 2002;325:419–421.
    1. Brugha TS, McManus S, Bankart J, Scott F, Purdon S, et al. Epidemiology of autism spectrum disorders in adults in the community in England. Archives of general psychiatry. 2011;68:459–465.
    1. Tyler CV, Schramm SC, Karafa M, Tang AS, Jain AK. Chronic disease risks in young adults with autism spectrum disorder: forewarned is forearmed. American journal on intellectual and developmental disabilities. 2011;116:371–380.
    1. Forsen L, Meyer HE, Midthjell K, Edna TH. Diabetes mellitus and the incidence of hip fracture: results from the Nord-Trondelag Health Survey. Diabetologia. 1999;42:920–925.
    1. Janghorbani M, Van Dam RM, Willett WC, Hu FB. Systematic review of type 1 and type 2 diabetes mellitus and risk of fracture. American journal of epidemiology. 2007;166:495–505.
    1. Kim SY, Schneeweiss S, Liu J, Daniel GW, Chang CL, et al. Risk of osteoporotic fracture in a large population-based cohort of patients with rheumatoid arthritis. Arthritis research & therapy. 2010;12:R154.
    1. Taylor MA, Abrams R. The prevalence of schizophrenia: a reassessment using modern diagnostic criteria. Am J Psychiatry. 1978;135:945–948.
    1. Buizer-Voskamp JE, Franke L, Staal WG, van Daalen E, Kemner C, et al. Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism. AJP: Lung Cellular and Molecular Physiology. 2009;18:588–595.
    1. Ingason A, Rujescu D, Cichon S, Sigurdsson E, Sigmundsson T, et al. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Molecular Psychiatry. 2009;16:17–25.
    1. Eagleson KL, Gravielle MC, Schlueter McFadyen-Ketchum LJ, Russek SJ, Farb DH, et al. Genetic disruption of the autism spectrum disorder risk gene PLAUR induces GABAA receptor subunit changes. Neuroscience. 2010;168:797–810.
    1. Moreno-De-Luca D, Mulle JG, Kaminsky EB, Sanders SJ, Myers SM, et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. American journal of human genetics. 2010;87:618–630.
    1. Grannis SJ, Overhage JM, Hui S, McDonald CJ. AMIA Annu Symp Proc; 2003. Analysis of a probabilistic record linkage technique without human review. pp. 259–263.
    1. Grannis SJ, Overhage JM, McDonald CJ. Proc AMIA Symp; 2002. Analysis of identifier performance using a deterministic linkage algorithm. pp. 305–309.

Source: PubMed

3
Se inscrever