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Primary care of the adult with intellectual and developmental disabilities

Robert Baldor, MD
Section Editor
Thomas L Schwenk, MD
Deputy Editor
Daniel J Sullivan, MD, MPH


Developmental disabilities refer to a number of different conditions with onset in childhood; intellectual disability (ID) is a nonspecific term that refers to a mental capacity below normal, due to any condition that impairs development of the brain before birth, during birth, or in the childhood years. ID (also referred to as cognitive impairment or cognitive adaptive disability) is replacing the older terminology "mental retardation."

ID affects 0.6 to 2.5 percent of people in the United Kingdom and the United States [1,2]. People with ID are living longer than in the past and most are living in the community rather than in institutional settings. Patients with Down syndrome live, on average, twice as long as they did 25 years ago [3]. Thus, the adult primary care clinician will be providing health care for increasing numbers of patients with ID and cognitive impairment.

Unfortunately, disparity exists in health services provided to those with ID, when compared with the general population [1,4,5]. Patients with ID are less likely to receive adequate medical care than the general population, despite their increased burden of chronic health problems [4,6]. Patients with ID have shortened life expectancy (ranging from 13 to 20 years shorter), increased numbers of medical problems, and decreased rates of recommended preventive health interventions. These issues can be attributed to multiple factors [2,6]:

Genetic factors that result in both ID and a greater burden of somatic health problems

Communication difficulties involving the patient, caregivers, and health providers

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Literature review current through: Nov 2017. | This topic last updated: Nov 28, 2017.
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  1. van Schrojenstein Lantman-De Valk HM, Metsemakers JF, Haveman MJ, Crebolder HF. Health problems in people with intellectual disability in general practice: a comparative study. Fam Pract 2000; 17:405.
  2. Baxter H, Lowe K, Houston H, et al. Previously unidentified morbidity in patients with intellectual disability. Br J Gen Pract 2006; 56:93.
  3. Fisher K, Kettl P. Aging with mental retardation: increasing population of older adults with MR require health interventions and prevention strategies. Geriatrics 2005; 60:26.
  4. US Department of Health and Human Services. Closing the Gap: A National Blueprint to Improve the Health of Persons with Mental Retardation. Office of the Surgeon General. Rockville, MD 2002. Available at: www.nichd.nih.gov/publications/pubs/closingthegap/index.cfm (Accessed on December 22, 2012).
  5. Prokup JA, Andridge R, Havercamp SM, Yang EA. Health Care Disparities of Ohioans With Developmental Disabilities Across the Lifespan. Ann Fam Med 2017; 15:471.
  6. Heslop P, Blair PS, Fleming P, et al. The Confidential Inquiry into premature deaths of people with intellectual disabilities in the UK: a population-based study. Lancet 2014; 383:889.
  7. American Association of Intellectual and Developmental Disabilities (AAIDD, formerly AAMR). Available at: www.aaidd.org (Accessed on December 22, 2012).
  8. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), American Psychiatric Association, Arlington 2013.
  9. Centers for Disease Control and Prevention (CDC). State-specific rates of mental retardation--United States, 1993. MMWR Morb Mortal Wkly Rep 1996; 45:61.
  10. Alexander D. Prevention of mental retardation: Four decades of research. Ment Retard Dev Disabil Res Rev 1998; 4:50.
  11. The National Human Genome Research Institute. Available at: www.genome.gov (Accessed on December 22, 2012).
  12. Moser HG. A role for gene therapy in mental retardation. Mental Retardation and Developmental Disabilities Research Reviews. Gene Therapy 1995; 1:4.
  13. Scriver CR. The metabolic and molecular bases of inherited disease, 7th ed, McGraw Hill, New York 1995.
  14. Ding Z, Harding CO, Thöny B. State-of-the-art 2003 on PKU gene therapy. Mol Genet Metab 2004; 81:3.
  15. National Newborn Screening and Genetics Center. Available at: genes-r-us.uthscsa.edu (Accessed on December 22, 2012).
  16. Lennox N, Eastgate G. Adults with intellectual disability and the GP. Aust Fam Physician 2004; 33:601.
  17. Down Syndrome Medical Interest Group (DSMIG), Cohen WI. Health care guidelines for individuals with Down syndrome. Down Syndrome Quart 1996; 1:1.
  18. Massachusetts Health Quality Partners: Preventive health recommendations for adults with mental retardation. Available at: http://www.guidelines.gov/content.aspx?id=37906 (Accessed on December 22, 2012).
  19. Chen CY, Lawlor JP, Duggan AK, et al. Mild cognitive impairment in early life and mental health problems in adulthood. Am J Public Health 2006; 96:1772.
  20. World Health Organization. Healthy Ageing: Adults with Intellectual Disabilities, Physical Health Issues. Available at: http://who.int/mental_health/media/en/21.pdf (Accessed on December 22, 2012).
  21. Cocco KM, Harper DC. Substance use in people with mental retardation: assessing potential problem areas. Ment Health Aspects Dev Disabil 2002; 5:101.
  22. Hughes K, Bellis MA, Jones L, et al. Prevalence and risk of violence against adults with disabilities: a systematic review and meta-analysis of observational studies. Lancet 2012; 379:1621.
  23. Koslowski N, Klein K, Arnold K, et al. Effectiveness of interventions for adults with mild to moderate intellectual disabilities and mental health problems: systematic review and meta-analysis. Br J Psychiatry 2016; 209:469.
  24. Einfeld SL, Piccinin AM, Mackinnon A, et al. Psychopathology in young people with intellectual disability. JAMA 2006; 296:1981.
  25. Coulter DL. Epilepsy and mental retardation: an overview. Am J Ment Retard 1993; 98 Suppl:1.
  26. McKee JR, Bodfish JW. Sudden unexpected death in epilepsy in adults with mental retardation. Am J Ment Retard 2000; 105:229.
  27. Tyler CV Jr, Bourguet C. Primary care of adults with mental retardation. J Fam Pract 1997; 44:487.
  28. Tilton AH, Butterbaugh G. Mental retardation and cerebral palsy. In: Neurological Therapeutics Principles and Practice, Noseworthy JH (Ed), Martin Dunitz, New York 2003.
  29. Pranzatelli MR. Oral pharmacotherapy for the movement disorders of cerebral palsy. J Child Neurol 1996; 11 Suppl 1:S13.
  30. Katz RT. Management of spasticity. Am J Phys Med Rehabil 1988; 67:108.
  31. Müller-Lissner SA, Kamm MA, Scarpignato C, Wald A. Myths and misconceptions about chronic constipation. Am J Gastroenterol 2005; 100:232.
  32. Ryan R, Sunada K. Medical evaluation of persons with mental retardation referred for psychiatric assessment. Gen Hosp Psychiatry 1997; 19:274.
  33. Charlot LR, Abend S, Silka V, et al.. A short stay inpatient unit for adults with development disabilities. In: Contemporary Dual Diagnosis MH/MR Service Models Volume 1: Residential and Day Services, NADD Press, Kingston, NY 2002.
  34. Carr EG, Smith CE, Giacin TA, et al. Menstrual discomfort as a biological setting event for severe problem behavior: assessment and intervention. Am J Ment Retard 2003; 108:117.
  35. Glover G, Bernard S, Branford D, et al. Use of medication for challenging behaviour in people with intellectual disability. Br J Psychiatry 2014; 205:6.
  36. Tyrer P, Oliver-Africano PC, Ahmed Z, et al. Risperidone, haloperidol, and placebo in the treatment of aggressive challenging behaviour in patients with intellectual disability: a randomised controlled trial. Lancet 2008; 371:57.
  37. Thomson A, Maltezos S, Paliokosta E, Xenitidis K. Risperidone for attention-deficit hyperactivity disorder in people with intellectual disabilities. Cochrane Database Syst Rev 2009; :CD007011.
  38. Moran JA, Rafii MS, Keller SM, et al. The National Task Group on Intellectual Disabilities and Dementia Practices consensus recommendations for the evaluation and management of dementia in adults with intellectual disabilities. Mayo Clin Proc 2013; 88:831.
  39. Silverman W, Schupf N, Zigman W, et al. Dementia in adults with mental retardation: assessment at a single point in time. Am J Ment Retard 2004; 109:111.
  40. National Down Syndrome Society. Available at: www.ndss.org (Accessed on December 22, 2012).
  41. Prater CD, Zylstra RG. Medical care of adults with mental retardation. Am Fam Physician 2006; 73:2175.
  42. Hultén MA, Patel S, Jonasson J, Iwarsson E. On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model. Reproduction 2010; 139:1.
  43. Jensen KM, Bulova PD. Managing the care of adults with Down's syndrome. BMJ 2014; 349:g5596.
  44. Bush A, Beail N. Risk factors for dementia in people with down syndrome: issues in assessment and diagnosis. Am J Ment Retard 2004; 109:83.
  45. Coppus AM, Evenhuis HM, Verberne GJ, et al. Survival in elderly persons with Down syndrome. J Am Geriatr Soc 2008; 56:2311.
  46. Cummings JL. Alzheimer's disease. N Engl J Med 2004; 351:56.
  47. Centers for Disease Control and Prevention (CDC). Alcohol consumption among women who are pregnant or who might become pregnant--United States, 2002. MMWR Morb Mortal Wkly Rep 2004; 53:1178.
  48. Astley SJ, Clarren SK. Diagnosing the full spectrum of fetal alcohol-exposed individuals: introducing the 4-digit diagnostic code. Alcohol Alcohol 2000; 35:400.