INTELECTUAL DISABILITY
Abstract
Intellectual Disability (ID) is a neuro-developmental disorder that results in incom-plete or (arrested) expansion of a brain. Depending upon the severity of the disease, ID could be moderate ID, severe ID, and most severe called profound ID. ID affects about two to three percent of overall population. It has been estimated that half of all cases with are due to environmental factors and the other half are due to genetic factors. ID cases may have intellectual disability only without other asso-ciated abnormalities, a condition called as Non-syndromic Intellectual Disability (NSID) or with other associated abnormalities, a condition called as Syndromic In-tellectual disability (SID). Autosomal recessive disorders are common in isolated populations, because of high rate of consanguinity. Recessive genetic disorders are common in Pakistan where consanguineous marriages are frequently ar-ranged because the cast system is deeply rooted. Understanding of molecular and genetic causes may allow for the decision making to prevent ID. Mutation screening of these genes is required which will lead to development of prena-tal diagnostic tests in Pakistan.
References
Organization WH. Geneva: World Health Organization; 1992. International Classification of Diseases, 10th Revi-sion. 1994;1.
Leonard R, Alison L. Critical incident stress debriefing and its effects on coping strategies and anger in a sample of Australian police officers involved in shooting incidents. Work & Stress. 1999;13(2):144-61.
Hussain R, Bittles A. The prevalence and demographic characteristics of consanguineous marriages in Pakistan. Journal of biosocial science. 1998;30(02):261-75.
Global Burden of Disease Study 2013, Collaborators (5 June 2015). “Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013.”. Lancet (London, England).PMID 26063472.
Chelly J, Khelfaoui M, Francis F, Chérif B, Bienvenu T. Ge-netics and pathophysiology of mental retardation. Euro-pean Journal of Human Genetics. 2006;14(6):701-13.
Roeleveld N, Zielhuis GA. The prevalence of mental re-tardation: a critical review of recent literature. Develop-mental Medicine & Child Neurology. 1997;39(2):125-32.
Maulik PK, Harbour CK. Epidemiology of intellectual dis-ability. International encyclopaedia of rehabilitation (on-line) Retrieved January. 2010;25:2012.
Daily DK, Ardinger HH, Holmes GE (February 2000).”Iden-tification and evaluation of mental retardation”. Am Fam Physician 61 (4): 1059–67, 1070. PMID 10706158.
Siderius LE, Hamel BC, van Bokhoven H et al. (2000). “X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3”. Am. J. Med. Genet. 85 (3): 216- 220. doi:10.1002/(SICI)1096-8628(19990730)85:3<216::AID-AJMG6>3.0.CO;2-X.PMID 10398231.
Laumonnier F, Holbert S, Ronce N et al. (2005). “Mutations in PHF8 are associated with X linked mental retardationand cleft lip/cleft palate”. J. Med. Genet. 42 (10): 780–
Wines, Michael (2006-12-28). “Malnutrition Is Cheating Its Survivors, and Africa’s Future”. The New York Times. Re-trieved 2009-07-21.
Sundaram SK, Sivaswamy L, Makki MI, Behen ME, Chugani H (2008). “Absence of arcuate fasciculus in children with global developmental delay of unknown etiology: a dif-fusion tensor imaging study”. J Pediatr 152 (2): 250–5. doi:10.1016/j.jpeds.2007.06.037. PMID 18206698.
Leonard H, Wen X. The epidemiology of mental retarda-tion: challenges and opportunities in the new millenni-um. Mental retardation and developmental disabilities research reviews. 2002;8(3):117-34.
Zlotogora J. The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel. Human ge-netics. 2010;128(5):473-9.
Molinari F, Rio M, Meskenaite V, Encha-Razavi F, Augé J, Bacq D, et al. Truncating neurotrypsin mutation in autoso-mal recessive nonsyndromic mental retardation. Science. 2002;298(5599):1779-81.
Higgins JJ, Pucilowska J, Lombardi RQ, Rooney JP. A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Neurology. 2004;63(10):1927-31.
Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, et al. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. Journal of medical ge-netics. 2006;43(3):203-10.
Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz C, et al. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. Jour-nal of medical genetics. 2005;42(10):780-6.
Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM), a knowl-edgebase of human genes and genetic disorders. Nucleic acids research. 2005;33(suppl 1):D514-D7.
Barkovich AJ, Najmabadi H, Ayub M, Vincent JB. Asif Mir, Liana Kaufman, 2, 16 Abdul Noor, 2 Mahdi M. Motazacker, 3 Talal Jamil, Matloob Azam, 4 Kimia Kahrizi, 5 Muham-mad Arshad Rafiq, 2 Rosanna Weksberg, 6 Tanveer Nasr, 7, 8 Farooq Naeem, 9, 10 Andreas Tzschach, 3 AndreasW. Kuss, 3 Gisele E. Ishak, 11 Dan Doherty, 12 H. Hilg-er Ropers, 3. The American Journal of Human Genetics. 2009;85:909-15.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011;478(7367).
Lawyer, Liz (2010-11-26). “Rosa’s Law to remove stigma-tized language from law books”. Ithaca, New York: The Ithaca Journal. Retrieved 2010-12-04. The resolution ...
urges a change from the old term to “developmental dis-ability.
Cooney G, Jahoda A, Gumley A, Knott F (June 2006). “Young people with intellectual disabilities attending mainstream and segregated schooling: perceived stig-ma, social comparison and future aspirations”. J Intel-lect Disabil Res 50 (Pt 6): 432–44.doi:10.1111/j.1365-2788.2006.00789.x. PMID 16672037.
Centers for Disease Control and Prevention (CDC) (Janu-ary 2004). “Economic costs associated with mental re-tardation, cerebral palsy, hearing loss, and vision impair-ment--United States, 2003”. MMWR Morb. Mortal. Wkly. Rep. 53 (3): 57–9. PMID 14749614.
Krahn GL, Fox MH. (2013). “Health disparities of adults with intellectual disabilities: what do we know? What do we do?”. Journal of Applied Research in Intellectual Dis-ability27 (5): 431–446. doi:10.1111/jar.12067.
Haider SI, Ansari Z, Vaughan L, Matters H, Emerson E. (2013). “Health and wellbeing of Victorian adults with intellectual disability compared to the general Victorian population”.Research in Developmental Disabilities 34 (11): 4034–4042.doi:10.1016/j.ridd.2013.08.017. PMID 24036484.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011;478(7367).
Hussain R, Bittles A. The prevalence and demographic characteristics of consanguineous marriages in Pakistan. Journal of biosocial science. 1998;30(02):261-75.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2017 Jamshed Khan
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
. 
