Autism: an approach toward its diagnosis and genetics
Keywords:
Autistic disorder/etiology/genetics/classification, Asperger syndrome/epidemiology/genetics.Abstract
Autism is a developmental disorder associated with an abnormal biology and chemistry in the brain which causes are unknown; it is still difficult to find an approach for the diagnosis of this disorder. A literature review was carried out about the genetic and/or environmental etiology and its classification to reach to the diagnosis of autism; the programs of Special Education were presented which are designed to find out the special needs of these children. This work was done by mens of the review of a bibliographic medical database, as this is an unknown topic by the health professionals it is aimed at making possible an accurate and opportune diagnosis, and an appropriate follow up to provide genetic counseling to families having some of their members affected.Downloads
References
1. Millá MG, Mulas F. Atención temprana y programas de intervención específica en el trastorno del espectro autista. Rev Neurol [serie en Internet]. Feb 2009 [citado 20 Sep 2011]; 48(2): [aprox. 6 pantallas]. Disponible en: http://www.ampacarrilet.org/archivos2/articulos /atenciontemprana.pdf
2. Insel TR. Circuitos defectuosos. Investigación y Ciencia. Jun 2010; 405:24-31.
3. Augustyn M. Terminology, epidemiology, and pathogenesis of autism spectrum disorders [monografía en Internet] [consultado el 31/07/ 2009]. Walthman (MA): UpToDate; 2009. Disponible en http://www.uptodate.com/contents/autism-spectrum-disorder-terminology -epidemiology-and-pathogenesis
4. Sotgiu I, Galati D, Manzano M, Gandione M, Gómez K, Romero Y And Et Al. Parental Attitudes, Attachment Styles, Social Networks, and Psychological Processes in Autism Spectrum Disorders: A Cross-Cultural Perspective. The Journal of Genetic Psychology, 2011, 172(4), 353_375. Disponible en: http://www.tandfonline.com/doi/full/10.1080 /00221325.2010.544342#.VHMzy6Sm6lE
5. Plauché Johnson C, Myers SM; American Academy of Pediatrics Council on Children with Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics [serie en Internet]. Nov 2007 [citado 20 Sep 2011]; 120(5): [aprox. 33 pantallas]. Disponible en: http://pediatrics.aappublications.org/content/120/5/1183.full
6. Guía de Práctica Clínica para el Manejo de Pacientes con Trastornos del Espectro Autista en Atención Primaria. [Internet] Disponible en: http://www.faecap.com/documents/download/35
7. Shah PE, Dalton R, Boris NW. Pervasive developmental disorders and childhood psychosis. En: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editores. Nelson Textbook of Pediatrics. 18va ed. Philadelphia Pa: Saunders Elsevier; 2007. p. 3-5.
8. Dapretto M, Davies MS, Pfeifer JH, Ecott AA, Sigman M, Bookheimer SY, et al. Understanding emotions in others: mirror neuron dysfunction in children with autism spectrum disorders. Nat Neurosci. 2006; 9: 28-30.
9. Artigas-Pallarés J, Gabau-Vila E, Guitart-Feliubadaló M. El autismo sindrómico: I. Aspectos generales. Rev Neurol [Internet] 2005 [citado 3 Feb 2014]; 40 (Supl 1): S143-9. Disponible en: http://eoeptgdbadajoz.juntaextremadura.net/wp-content/uploads/2011/11 /Autismo-sindr%C3%B3mico-I.-Aspectos-generales.pdf
10. Geier DA, Kern JK, Garver CR, Adams JB, Audhya T, Nataf R, et al. Biomarkers of environmental toxicity and susceptibility in autism. J Neurol Sci . May 2009 ; 280(1): 101-108.
11. Gregory SG, Connelly JJ, Towers AJ, Johnson J, Biscocho D, Markunas CA, et al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med [serie en Internet]. 2009 [citado 15 Sep 2011]; 7(62): [aprox. 13 pantallas]. Disponible en: http://www.biomedcentral.com/content/pdf/1741-7015-7-62.pdf
12. Artigas-Pallarés J. Autismo y trastorno de déficit de atención/hiperactividad: convergencias y divergencias. Genética. Rev Neurol [Internet] 2013 [citado 3 Feb 2014]; 57 (Supl 1): S155-S161. Disponible en: http://www.neurologia.com/pdf/Web/57S01/bkS01S155.pdf
13. Anan RM, Warner LJ, McGillivary JE, Chong IM, Hines SJ. Group Intensive Family Training (GIFT) for preschoolers with autism spectrum disorders. Behavioral Interventions [serie en Internet]. Jul 2008 [citado 15 Sep 2011]; 23(3): [aprox. 16 pantallas]. Disponible en: http://www.beaumontchildrenshospital.com/childrens-files/u223/GIFT_for_preschoolers.pdf
14. Palau-Boduel M, Salvadó Salvadó B, Clofent-Torrentó M, Valls-Santasusana A. Autismo y conectividad neural. Rev Neurol [Internet] 2012 [citado 3 Feb 2014]; 54 (Supl 1): S31-S39. Disponible en: http://psyciencia.com/wp-content/uploads/2012/10/autismo-y-conectividad -neural.pdf
15. Plomin R, DeFries J C, McClearn GE. Behavioral Genetics. 2da ed. New York: W H Freeman, Times Books, Henry Holt & Co; 1990.
16. Freeman RK, Nageotte M. A protocol for use of oxytocin. Am J Obstet Gynecol. 2007; 197:445-6.
17- Meldgaard Madsen K, Hviid A, Vestergaard M, Schendel D, Wohlfahrt J, Thorsen P, et al. A population-based study of measles, mumps and rubella vaccination and autism. N Engl J Med [serie en Internet]. 2002 [citado 15 Sep 2011]; 347(19): [aprox. 6 pantallas]. Disponible en: http://www.nejm.org/doi/pdf/10.1056/NEJMoa021134
18. Rossignol DA, Frye RE. A review of research trends in physiological abnormalities in autism spectrum disorders: immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures. Mol Psychiatry. [Internet] Apr 2012 [citado 20 Ene 2014]; 17(4): 389_401. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3317062/
19. Miguel Miguel, AM. El mundo de las emociones en los autistas. Revista Teoría de la Educación: educación y cultura en la sociedad de la información [serie en Internet]. 2006 [citado 20 Sep 2011]; 7(2): [aprox. 15 pantallas]. Disponible en: http://gredos.usal.es/jspui/bitstream /10366/56512/1/TE2006_V7N2_P169.pdf
20. Martos Pérez J, Paula Pérez I. Una aproximación a las funciones ejecutivas en el trastorno del espectro autista. Rev Neurol [serie en Internet]. 2011 [citado 20 Sep 2011]; 52(1): [aprox. 7 pantallas]. Disponible en: http://www.neurologia.com/pdf/Web/52S01/bfS01S147.pdf
21. Ehlers S, Gillberg C, Wing L. A Screening Questionnaire for Asperger Syndrome and Other High-Functioning Autism Spectrum Disorders in School Age Children. Autism & Developmental Disorders [serie en Internet]. Abr 1999 [citado 15 Sep 2011]; 29(2): 129-141 [aprox. 13 pantallas]. Disponible en: http://www.springerlink.com/content/h26q7u2323251347/fulltext.pdf
22. Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM. Discovery of allelic variants of HOXA1 and HOXB1: Genetic susceptibility to autism spectrum disorders. Teratology [serie en Internet]. Dec 2000 [citado 15 Sep 2011]; 62(6): [aprox. 13 pantallas]. Disponible en: http://onlinelibrary.wiley.com/doi/10.1002/1096-9926(200012)62:6%3C393: AID-TERA6%3E3.0.CO;2-V/pdf
23. Myers SM, Plauché Johnson C; MEd the Council on Children with Disabilities. Management of Children with Autism Spectrum Disorders. Pediatrics [serie en Internet]. Nov 2007 [citado 15 Sep 2011]; 120(5): [aprox. 21 pantallas]. Disponible en: http://www.feathouston.org/Article1.pdf
24. Glasson E, McDermott S, Dixon G. Management of assessments and diagnoses for children with autism spectrum disorders: The Western Australian Model. MJA. 2008; 188: 288-329.
25. Acta Pediátrica de México Volumen 31, Núm. 1, enero-febrero, 2010.
26. Schaefer GB, Mendelsohn NJ. Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. Genet Med [serie en Internet]. 2008 [citado 15 Sep 2011]; 10(1): [aprox. 9 pantallas]. Disponible en: http://www.nature.com/gim/journal/v10/n1/full/gim20082a.html
27. Lamb J, Sykes N. Autism: the quest for the genes. Expert Rev Mol Med. 2007; 9: 1-15.
28. Persico AM, Bourgeron T. Searching for ways out of the autismmaze: genetic, epigenetic and environmental clues. Trends Neurosci [serie en Internet]. Jul 2006 [citado 15 Sep 2011]; 29(7): [aprox. 10 pantallas]. Disponible en: http://www.sciencedirect.com/science/article /pii/S0166223606001111
29. Bostic JQ, Prince JB. Child and adolescent psychiatric disorders. En: Stern TA, Rosenbaum JF, Fava M, Biederman J, Rauch SL, editores. Massachusetts General Hospital Comprehensive Clinical Psychiatry. 1ra ed. Philadelphia Pa: Mosby Elsevier; 2008. p. 3-5.
30. Baron IS. Autism spectrum disorder: complex, controversial, and confounding. Revista Neuropsychol [serie en Internet]. 2008 [citado 15 Sep 2011]; 18(4): [aprox. 2 pantallas]. Disponible en: http://www.springerlink.com/content/8h318587nl166634/fulltext.pdf
31. Rutherford MD, Baron-Cohen S, Wheelwright S. Reading the Mind in the Voice: A Study with Normal Adults and Adults with Asperger Syndrome and High Functioning Autism. Journal of Autism and Developmental Disorders [serie en Internet]. Jun 2002 [citado 15 Sep 2011]; 32(3): [aprox. 6 pantallas]. Disponible en:http://www.springerlink.com/content/a8twehlyfkk21eef/fulltext.pdf
32. Gurrieri F, Neri G. Defective oxytocin function: a clue to understanding the cause of autism?. BMC Med [serie en Internet]. 2009 [citado 15 Sep 2011]; 7: [aprox. 4 pantallas]. Disponible en: http://www.biomedcentral.com/content/pdf/1741-7015-7-63.pdf
33. Millá MG, Mulas F. Atención temprana y programas de intervención específica en el trastorno del espectro autista. Rev Neurol [serie en Internet]. Feb 2009 [citado 20 ene 2014]; 48(2): [aprox. 6 pantallas]. Disponible en: http://www.ampacarrilet.org/archivos2/articulos/atenciontemprana.pdf
34. Carter CS, Boone EM, Pournajafi-Nazarloo H, Bales KL. Consequences of early experiences and exposure to oxytocin and vasopressin are sexually dimorphic. Dev Neurosci. 2009; 31: 332-41.
35. Henry S, Richard-Yris MA, Tordjman S, Hausberger M. Neonatal handling affects durably bonding and social development. PLoS One [serie en Internet]. 2009 [citado 15 Sep 2011]; 4(4): [aprox. 9 pantallas]. Disponible en: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0005216
36. Saulnier CA, Klin A. Brief report: social and communication abilities and disabilities in higher functioning individuals with autism and Asperger syndrome. J Autism Dev Disord [serie en Internet]. 2007 [citado 15 Sep 2011]; 37(4): [aprox. 6 pantallas]. Disponible en: http://www.springerlink.com/content/eh7x2466v422h734/fulltext.pdf
37. Clark SL, Simpson KR, Knox GE, Garite TJ. Oxytocin: new perspectives on an old drug. Am J Obstet Gynecol [serie en Internet]. Ene 2009 [citado 15 Sep 2011]; 200(1): 35.e1_35.e6 [aprox. 6 pantallas]. Disponible en:http://pediatrics.aappublications.org/content/120/5/1162.fullhttp://www.sciencedirect.com/science/article/pii/S0002937808006200
38. OROZCO DELGADO, M. (2008). Concepciones teóricas a cerca de la educabilidad de los niños con autismo. La Habana, Cuba: Ministerio de Educación.
39. MOREJÓN RODRÍGUEZ, L. (2009). Estrategia de intervención para el desarrollo de la comunicación sociocultural de niños con autismo. [Tesis en opción al Grado Científico de Doctor en Ciencias Pedagógicas]. La Habana, Cuba: Centro de Referencia Latinoamericano para la Educación Especial.
40. Bert, J.: "Modelo pedagógico de educación familiar para padres de escolares con limitaciones físico motoras". Tesis doctoral. La Habana, 2010.
41. Castillo, S.M; Padrón, A.R; García, A.; Gómez, L.: "Familia y educación de los hijos. Experiencias desde la escuela". Sello editor Educación Cubana. Ministerio de Educación. Pedagogía 2009. La Habana, 2009.
42. Fernández, G. y Col.: Prevención y atención integral al niño de 0 a 6 años con necesidades educativas especiales. Curso 28. Pedagogía 2009. Editora Educación cubana. Ministerio de Educación. La Habana, 2009.

Published
How to Cite
Issue
Section
License
Authors who have publications with this journal agree to the following terms: Authors will retain their copyrights and grant the journal the right of first publication of their work, which will be publication of their work, which will be simultaneously subject to the Creative Commons Attribution License (CC-BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.
Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g.: deposit it in an institutional telematic archive or publish it in a volume). Likewise, and according to the recommendations of the Medical Sciences Editorial (ECIMED), authors must declare in each article their contribution according to the CRediT taxonomy (contributor roles). This taxonomy includes 14 roles, which can be used to represent the tasks typically performed by contributors in scientific academic production. It should be consulted in monograph) whenever initial publication in this journal is indicated. Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which may produce interesting exchanges and increase citations of the published work. (See The effect of open access). https://casrai.org/credit/