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intellectual disability; mental retardation

Genetics: 1) chromosome 21 (Down's syndrome) 2) autosomal recessive - defects in MAN1B1 (type 15) [4] 3) autosomal dominant - defects in EPB41L1 (type 11) [7] 3) X-linked a) long-chain-fatty-acid-CoA ligase 4 [5] b) many others 4) most cases associated with genetic mutations not found in either parent [8] Clinical manifestations: - significantly below average general intellectual functioning associated with impairments in adaptative behavior - manifested during the developmental period - self-injurious behavior Laboratory: - see ARUP consult [6] Management: 1) self-injurious behavior a) often a symptom of a physical problem b) ask caregivers to calm patient c) examine patient as tolerated - additional help may be required d) obtain samples for therapeutic drug monitoring [2] e) selective serotonin reuptake inhibitor (SSRI) if no physical problem can be identified 2) community living preferable to residential care 3) prognosis: -> overall prevalence of morbidity & mortality is comparable to persons without cognitive impairment* 4) use DSIID to screen for dementia [2,18] * notable exceptions, including but not limited to, Down's syndrome

Specific

mental retardation, autosomal dominant 39 mental retardation, nonsyndromic X-linked mental retardation; X-linked intellectual disability (XLID)

General

developmental disorder sign/symptom

Database Correlations

OMIM correlations

References

  1. UCLA Intensive Course in Geriatric Medicine & Board Review, Marina Del Ray, CA, Sept 12-15, 2001
  2. Geriatrics Review Syllabus, American Geriatrics Society, 5th edition, 2002-2004 - Geriatric Review Syllabus, 7th edition Parada JT et al (eds) American Geriatrics Society, 2010 - Geriatric Review Syllabus, 8th edition (GRS8) Durso SC and Sullivan GN (eds) American Geriatrics Society, 2013 - Geriatric Review Syllabus, 9th edition (GRS9) Medinal-Walpole A, Pacala JT, Porter JF (eds) American Geriatrics Society, 2016
  3. Moeschler JB et al, American Academy of Pediatrics (AAP) Clinical genetic evaluation of the child with mental retardation or developmental delays PMID: 16740881 http://aappolicy.aappublications.org/cgi/content/full/pediatrics;117/6/2304
  4. OMIM :accession 614202
  5. OMIM :accession 300387
  6. ARUP Consult: Laboratory Testing for Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/developmental-delay-dd-or-intellectual-disability-id-testing - ARUP Consult: Testing for Genetic Syndromes Related to Developmental Delay (DD), Intellectual Disability (ID), and Autism Spectrum Disorder (ASD). https://arupconsult.com/algorithm/developmental-delay-dd-testing-algorithm - Autism and Intellectual Disability Comprehensive Panel https://arupconsult.com/ati/autism-and-intellectual-disability-comprehensive-panel
  7. OMIM :accession 614257
  8. Rauch A et al Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study The Lancet, Early Online Publication, 27 September 2012 PMID: 23020937 http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(12)61480-9/abstract
  9. Chauhan U, Kontopantelis E, Campbell S et al Health checks in primary care for adults with intellectual disabilities: how extensive should they be? J Intellect Disabil Res. 2010 Jun;54(6):479-86. PMID: 20576060
  10. Krahn GL, Hammond L, Turner A. A cascade of disparities: health and health care access for people with intellectual disabilities. Ment Retard Dev Disabil Res Rev. 2006;12(1):70-82. Review. PMID: 16435327
  11. Rana F, Gormez A, Varghese S. Pharmacological interventions for self-injurious behaviour in adults with intellectual disabilities. Cochrane Database Syst Rev. 2013 Apr 30;(4):CD009084. Review. PMID: 23633366
  12. Rose J, Willner P, Shead J et al Different factors influence self-reports and third-party reports of anger by adults with intellectual disabilities. J Appl Res Intellect Disabil. 2013 Sep;26(5):410-9. PMID: 23925964
  13. Tenneij NH, Koot HM. Incidence, types and characteristics of aggressive behaviour in treatment facilities for adults with mild intellectual disability and severe challenging behaviour. J Intellect Disabil Res. 2008 Feb;52(Pt 2):114-24. PMID: 18197950
  14. Anderson LL, Humphries K, McDermott S The state of the science of health and wellness for adults with intellectual and developmental disabilities. Intellect Dev Disabil. 2013 Oct;51(5):385-98. Review. PMID: 24303825 Free PMC Article
  15. Carmeli E, Imam B. Health promotion and disease prevention strategies in older adults with intellectual and developmental disabilities. Front Public Health. 2014 Apr 14;2:31. eCollection 2014. Review. PMID: 24783190 Free PMC Article
  16. Heller T, Fisher D, Marks B, Hsieh K. Interventions to promote health: crossing networks of intellectual and developmental disabilities and aging. Disabil Health J. 2014 Jan;7(1 Suppl):S24-32. Review. PMID: 24456681
  17. Naaldenberg J, Kuijken N, van Dooren K et al Topics, methods and challenges in health promotion for people with intellectual disabilities: a structured review of literature. Res Dev Disabil. 2013 Dec;34(12):4534-45. Review. PMID: 24161461
  18. Krinsky-McHale SJ, Silverman W. Dementia and mild cognitive impairment in adults with intellectual disability: issues of diagnosis. Dev Disabil Res Rev. 2013;18(1):31-42. Review. PMID: 23949827