2017, Number 1
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Cuba y Salud 2017; 12 (1)
Clinical genetics characterization of intellectual disability at “Dr Carlos J. Finlay” polyclinic, 1997-2014
Portuondo SM, Gualpa SAF, González DE, Balado FL, Portuondo FIR, Mejías SY
Language: Spanish
References: 25
Page: 11-18
PDF size: 739.73 Kb.
ABSTRACT
Objective: To characterize the intellectual disability behavior on population treated in “Dr. Carlos J. Finlay” polyclinic of Marianao from 1997 to 2014.
Method: An observational descriptive study of persons with intellectual disability, born between 1997 and
2014, including a universe of 9 338 persons, a clinical-genetic study of 39 cases identified with intellectual
disabilities was conducted, with inclusion criterion. The individual medical records were reviewed, a
classification instrument that included anamnesis, complete physical examination of each patient and the
selected cases were performed the necessary laboratory investigations to identify the source of disability
was applied.
Results: A prevalence of 0.42 per 100 inhabitants represented 39 patients with intellectual disabilities.
Intellectual disability predominated in males 1.4/1; the highest percentage of disability accounted for 33
school-age patients 84.6%, born between 1997 and 2008, 23 cases 58.9% had a mild disability. The origin
of disability prevailed in the prenatal period, with 16 individuals surveyed 41.1% and genetic causes ranked
first 68.8%.
Conclusions: The results of this study allow updating and enriching the available information on intellectual disability in the population of the investigated area. The identification of causes direct monitoring and control must be maintained in this population, as well as prevention and necessary disclosure to all involved
in the diagnosis and care of people with intellectual disabilities.
REFERENCES
Intellectual Disability: Definition, Classification and Systems of Supports. 11th ed. Research & Practice for Persons with Severe Disabilities; 2010. 35 1y2.p. 55–56.
Portuondo M. Enfoque clínico-genético de la discapacidad intelectual en Marianao, 1977-1997. [tesis] ; 2012.
Navas P, Verdugo MA, Gómez LE. Diagnóstico y clasificación en discapacidad intelectual. Intervención Psicosocial. 2008; 17(2): 143-152.
Luckasson R, Borthwick-Duffy S, Buntix W, Coulter DL, Craig EM, Reeve A, et al. Retraso mental. Definición, clasificación y sistemas de apoyo. Madrid: Alianza editorial; 2008.
Galasso C, Lo-Castro A, El-Malhany N, Curatolo P. Idiopathic mental retardation and new chromosomal abnormalities. Italian Journal of Pediatrics; 2010. 36 (17).p. 3-8.
Decobert F, Grabar S, Merzoug V, Kalifa G, Ponsot G, Adamsbaum C, et al. Unexplained mental retardation: is the brain MRI useful? Pediatr Radiol. 2005; 35(6): 587-596.
Portuondo Sao M, Lantigua Cruz A, Tassé Vila D, Carmenate Naranjo D. Retraso mental ligero de etiología no precisada a propósito de la caracterización etiológica realizada en una población del municipio Marianao. Rev. Cubana Genet. Comunit. 2010; 4(2): 62-64. verificar
Rehder H, Fritz B. Genetic causes of mental retardation. Wien Med Wochenschr. 2006; 13: 6-25.
Inlow JK, Restifo LL. Molecular and comparative genetics of mental retardation. Genetics. 2004; 166: 835–881.
Milá-Recasens M, Rodríguez- L, Madrigal I. Diagnóstico del retraso mental de origen genético. Protocolo de estudio. Rev Neurol. 2011; 42 Supl 1: S103-S107.
Kaufman L, Ayub M, Vincent JB. The genetics basis of non-syndromic disability: a review. J Neurodev Disord. 2010; 2(4): 182–209.
Bokhoven H, Kramer JM. Disruption of the epigenetic code: An emerging mechanism in mental retardation. Neurobiology of Disease. 2010; 39: 3-12.
Ropers HH, Hamel B. X-linked mental retardation. Nat Rev Genet. 2012; 6: 46-57.
Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, et al. Evaluation of mental retardation: recommendations of a consensus conference: American College of Medical Genetics. Am J Med Genet. 2013; 72: 468–477.
Discapacidad Intelectual. Aspectos Generales.[Internet].[citado 5 Sep 2015] Disponible en: http://www.feaps.org/biblioteca/salud_mental/capitulo01.pdf.
Cobas M. La investigación-acción en la atención de las personas con discapacidad en las Repúblicas de Cuba y Bolivariana de Venezuela. [tesis] Escuela Nacional de Salud Pública; 2011.
Portuondo M, Lantigua A, Lardoeyt R, Tassé D. Caracterización etiológica del retraso mental en la población nacida entre 1977 y 1997 del Policlínico “Dr. Carlos J. Finlay”. Rev. Cubana Genet. Comunit. 2007; 1(1):20-4.
Morley KI, Montgomery GW. The genetics of cognitive processes: candidate genes in humans and animals. Behav. Genet. 2011; 31(6): 511–531.
Egan MF, Kojima M, Callicott JH, Goldberg TE, Kolachana BS. The BDNF polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell. 2013; 112: 257–269.
Baare WF, Oel CJ, Hulshoff Pol HE, Schnack HG, Durston S. Volumes of brain structures in twins discordant for schizophrenia. Arch. Gen. Psychiatry. 2011; 58(1): 33– 40.
Maguire EA, Gadian DG, Johnsrude IS, Good CD, Asburner J. Navigation-related structural change in the hippocampi of taxi drivers. Proc. Natl. Acad. Sci. USA. 2010; 97(8): 4398–4403.
Kaufmann W, Moser HW. Dendritic anomalies in disorders associated with mental retardation. Cereb Cortex. 2000; 10: 981-991.
Chelly J, Mandel JL. Monogenic causes of X-linked mental retardation. Nat Rev Genetc. 2001; 2: 669-680.
Plomin R, Kosslyn SM. Genes, brain and cognition. Nat. Neurosci. 2011; 4: 1153–1155.
Gustavson KH, Holgrim G, Jonsell R, Blomquist HK. Severe mental retardation in children in a northern Swedish county. J Ment Defic Res. 1997; 21: 161-180.