2011, Number 2
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Rev Cub Gen 2011; 5 (2)
Genetic etiology in the origin of mental disability in the Republic of Ecuador
Lardoeyt FR, Rodríguez GH, Pérez EO, Jijón AM, Rodríguez PR, Hernández MH, Best CS, Gámez FM
Language: Spanish
References: 16
Page: 44-49
PDF size: 803.54 Kb.
ABSTRACT
Intellectual disability is a serious health problem prioritized
in many countries. Within the etiological group of causes
genetic ones, mainly those hereditary, represent 50 % of
the cases. A total of 68 687 individuals with intellectual
disabilities were studied in the four regions of the Republic
of Ecuador through a cross-sectional descriptive design
study in the period June 2009 to December 2010 with
the aim of determining the prevalence of the genetic
etiology of intellectual disability. Prenatal genetic etiology
accounted for 28,45 % of intellectual disability, and
prenatal environmental evidence and nonspecific prenatal
accounted for 6,61 % and 12,65 % respectively. Prenatal
genetic etiology accounts for nearly 30 % of people
surveyed in the mountains, while the largest percentage of
nonspecific prenatal was found to be in the coast region.
The prenatal environmental category was larger in the
eastern region, with 7,60 %. The multifactorial etiology
predominated, followed by chromosomal causes. The
monogenic cause predominated in the Amazonia, showing
the lowest occurrence frequency.
REFERENCES
Colectivo de autores. Por la vida. 2ª ed. La Habana: Casa Editora Abril; 2003.
Iwase S, Shi Y. Histone and DNA modifications in mental retardation. Prog Drug Res. 2011;67:147-73.
Schaefer A, Tarakhovsky A, Greengard P. Epigenetic mechanisms of mental retardation. Prog Drug Res. 2011;67:125-46.
Vasconcelos MM. Mental retardation. J Pediatr. 2004;80(Suppl. 2):S71-82.
Jauhari P, Boggula R, Bhave A, Bhargava R, Singh C, Kohli N, Yadav R, Kumar R. Aetiology of intellectual disability in paediatric outpatients in Northern India. Dev Med Child Neurol. 2011 Feb;53(2):167-72.
Antonarakis SE, Beckmann JS. Mendelian disorders deserve more attention. Nature Rev Genet. 2006;7:277-282.
Ropers HH. New perspectives for the elucidation of genetic disorders. Am J Hum Genet. 2007;81:199-207.
Peltonen L, Perola M, Naukkarinen J, Palotie A. Lessons from studying monogenic disease for common disease. Hum Mol Genet. 2006;15:R67-R74.
GeneReviews. [Fecha de acceso 1 de octubre de 2010]. URL disponible en: http://www.geneclinics.org
Ropers HH. Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet. 2010 Sep 22;11:161-87.
Miriam Portuondo Sao, Araceli lantigua Cruz, Roberto Lardoeyt Ferrer, Denia Tassé Vila. Caracterización etiológica del retraso mental en una población del municipio Marianao. Rev Cub Genet Comunit. 2007;1(1):20-4.
Araceli Lantigua Cruz, Miriam Portuondo Sao, Roberto Lardoeyt Ferrer, Estela Morales Peralta, Iris A. Rojas Betancourt, Fidel Moras Bracero. Instrumento de clasificación inicial de factores causales de retraso mental. [en línea] 2008 [fecha de acceso 1 de octubre de 2010]. URL disponible en: http://www. files.sld.cu/genetica/files/2010/08/resultados-cientificos- 2008.doc.
Shapiro BK, Batshaw ML. Mental retardation (Intellectual disability). In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007.
Conti V, Marini C, Gana S, Sudi J, Dobyns WB, Guerrini R. Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. Am J Hum Genet. 2010;87(5):667-70.
Griswold AJ, MaD, Sacharow SJ, Robinson JL, Jaworski JM, Wright HH, Abramson RK, Lybaek H, Oyen N, Cuccaro ML, Gilbert JR, Pericak-Vance, MA. A de Novo 1.5Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis. Autism Res. 2011 Jun;4(3):221-7.
Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), [fecha de acceso 8 de octubre de 2010]. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/