El trastorno del espectro autista (TEA) fue descrito por primera vez en 1943 por Leo Kanner, y desde entonces se han publicado 18 490 artículos, los cuales han sido citados 48 416 veces.1 Cerca de la mitad de estas publicaciones provienen de los Estados Unidos de Norteamérica y la mayoría de los esfuerzos para mejorar las condiciones de vida de estos pacientes tienen lugar en países desarrollados. El trastorno consiste en un desfase en la adquisición de habilidades socioemocionales durante el desarrollo temprano y, como consecuencia, la instalación progresiva y variable de una discapacidad de adaptación social. La etiología es multifactorial e incluye alteraciones neurológicas funcionales y estructurales de origen genético y epigenético. Existe un grave desconocimiento de este tema entre los profesionales de la salud por lo que esta revisión sistemática pretende resumir los aspectos históricos, diagnósticos y terapéuticos más relevantes del TEA.
Sweileh WM, Al-Jabi SW, Sawalha AF, Zyoud SH. Bibliometric profile of the global scientific research on autism spectrum disorders. Springerplus. 2016;5(1):1480.
Kanner L. Irrelevant and metaphorical language in early infantile autism. Am J Psychiatry. 1946;103(2):242-6.
Down JL. Lettsomian lectures on some of the mental affections of chidhood and youth. Br Med J. 1887;692:448-449.
Bleuler E. Dementia praecox oder gruppe der Schizophrenien. En: Aschaffenburg G, Editor. Handbuch der Psychiatrie. Leipzig: Deuticke; 1911.
Minkowski E. Etudes phénoménologiques et psychopathologiques. Paris: Coll. de l’Evolution Psychiatrique; 1933.
Gillberg C, Steffenburg S, Jakobsson G. Neurobiological findings in 20 relative gifted children with Kanner type autism or Asperger syndrome. Dev Med Child Neurol. 1987;29(5):641-9.
American Psychiatric Association. Diagnostic and statistical manual of mental disorders, 4th Edition, text revision (DSM-IV- TR). Arlington: American Psychiatric Publishing; 2000.
Bennett M, Goodall E. A meta-analiysis of DSM-5 autism diagnosses in relation to DSM-IV and DSM-IV-TR. Rev J Autism Dev Disord. 2016;3(2):119-124.
American Psychiatric Association. Diagnostic and statistical manual of mental disorders: DSM-5. Washington, DC: American Psychiatric Association; 2013.
Caraveo J, Medina-Mora ME, Rascon ML, Villatoro R, Lopez EK, Juarez F et al. Características psicopatológicas de la población urbana adulta en México. Resultados de una Encuesta Nacional en Hogares. Anales del Instituto Mexicano de Psiquiatría. 1994:22-42.
Secretaría de Salud-Sistema Nacional de Vigilancia Epidemiológica. Perfil Epidemiológico de la Salud Mental en México, México: Secretaría de Salud; 2012.
Baird G, Simonoff E, Pickles A, Chandler S, Loucas T, Meldrum D, Charman T. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet. 2006;368(9531):210-5.
Elsabbagh M, Divan G, Yun-Joo K, Shin-Kim Y, Kauchali S, Marcín C et al. Global prevalence of autism and other pervasive developmental disorders. Autism Res. 2012;5(3):160-179.
Fombonne E, Marcín C, Manero AC, Bruno R, Díaz C, Villalobos M et al. Prevalence of Autism Spectrum Disorders in Guanajuato, México: The Leon Survey. J Autism Dev Disord. 2016;45(5)1669-85.
Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics. 2004;113(5):e472-86.
Rubeis SD, Buxbaum JD. Genetics and genomics of autism spectrum disorder: Embracing complecity. Hum Mol Genet. 2015;24:R24-R31.
Bernier R, Galzio C, Xiong B et al. Disruptive CHD8 mutaions define a subtype of autism early in development. Cell. 2014;158:263-276.
Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L et al. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014;46:380-384.
Kalscheuer VM, Fitzpatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM et al. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet. 2007;121:501-509.
Huang TN, Chuang HC, Chow WH, Chen CY, Wang HF, Chou SJ et al. Tbr1 haploinsuffiency impairs amygdalar axonal projections and results in cognitive abnormality. Nat Neurosci. 2014;17:240-247.
Notwell JH, Heavner WE, Dorbandi WE, Katzman S, McKenna WL, Ortiz-Londono CF et al. TBR1 regulates autism risk genes in the developing neocortex. Genome Res. 2016;26:1013-1022.
Gillberg C, Steffenburg S, Jakobsson G. Neurobiological findings in 20 relative gifted children with Kanner type autism or Asperger syndrome. Dev Med Child Neurol. 1987;29(5):641-9.
Artigas-Pallarés J, Gabau-Vila E, Guitart-Feliubadaló M. El autismo sindrómico: II. Síndromes de base genética asociados a autismo. Rev Neurol. 2005;40(Supl 1):S151-62.
Cross-Disorder Group of the Psychiatric Genomics Consortium. Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis. Lancet. 2013;381:1371-9.
Artigas-Pallarés J, Paula-Pérez I. Autismos que se ‘curan’. Rev Neurol. 2016;62(Supl 1):S41-7.
Courchesne E, Campell K, Solso S. Brain growth across the life span in autism: Age-specific changes in anatomical pathology. Brain Res. 2011;1380:138-145.
Lainhart JE, Bigler ED, Bocian M, Coon H, Dinh E, Dawson G et al. Head circumference and height in autism: A study by the Collaborative Program of Excellence in Autism. Am J Med Genet. 2006;140:2257-2274.
Scott JA, Schumann CM, Goodlin-Jones BL, Amaral DG. A comprehensive volumetric analysis of the cerebellum in children and adolescents with autism spectrum disorder. Autism Res. 2009;2(5):246-257.
Fantemi S, Aldinger KA, Ashwood P, Bauman ML, Blaha CD, Blatt GJ et al. Consensus Paper: Pathological role of the cerebellum in autism. Cerebellum. 2012;11(3):777-807.
Welsh JP, Ahn ES, Placantonakis DG. Is autism due to brain desynchronization? Int J Dev Neurosci. 2005;23:253-263.
Bromley RL, Mawer GE, Briggs M, Cheyne C, Clayton-Smith J, García-Fiñana M et al. The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs. Liverpool and Manchester Neurodevelopment Group. J Neurol Neurosurg Psychiatry. 2013;84(6):637-43.
Surveillance report 2016. Autism spectrum disorder in under 19s: recognition, referral and diagnosis (2011). NICE guidelines CG128 and Autism spectrum disorder in under 19s: support and management (2013) NICE guideline CG170. Disponible en: https://www.nice.org.uk/guidance/cg128/resources/surveillance-report-2016-autism-spectrum-disorder-in-under-19s-recognition-referral-and-diagnosis-2011-nice-guideline-cg128-and-autism-spectrum-disorder-in-under-19s-support-and-management-2013-nice-3448095398341.
Diagnóstico y tratamiento de los trastornos del espectro autista. México: Secretaría de Salud; 2012.
Gillberg C, Fernell E. Autism plus versus autism pure. Journal of autism and developmental disorders. 2014;44:3274-3276.
Malow BA, Katz T, Reynolds AM, Shui A, Carno M, Connolly HV et al. Sleep difficulties and medications in children with autism spectrum disorders: A registry study. Pediatrics. 2016;137(Suppl 2):S98-S104.
Lucas-de la Cruz L, Martínez-Vizcaino V, Álvarez-Bueno C, Arias-Palencia N, Sánchez-López M, Notario-Pacheco B. Reliability and validity of the Spanish version of the Children’s Sleep Habits Questionnaire (CSHQ-SP) in school-age children. Child Care Health Dev. 2016;42(5):675-82.
Jobski K, Höfer J, Hoffmann F, Bachmann C. Use of psychotropic drugs in patients with autism spectrum disorders: a systematic review. Acta Psychiatr Scand. 2016;135(1):8-28.
Scahill L, Jeon S, Boorin SJ, McDougle CJ, Aman MG, Dziura J. Weight gain and metabolic consequences of risperidone in young children with autism spectrum disorder. Am Acad Child Adolesc Psychiatry. 2016;55(5):415-23.
Reichow B, Barton EE, Boyd BA, Hume K. Early intensive behavioral intervention (EIBI) for young children with autism spectrum disorders (ASD). Cochrane Database of Systematic Reviews. 2012;10:CD009260.
Loovas OI. Behavioral treatment and normal educational and intellectual functioning in young autistic children. J Consult Clin Psychol. 1987;55(1):3-9.
Fletcher-Watson S, McConnell F, Manola E, McConachie H. Interventions based on the Theory of Mind cognitive model for autism spectrum disorder (ASD). Cochrane Database of Systematic Reviews. 2014;(3):CD008785.
Mohammadzaheri F, Koegel LK, Rezaee M, Rafiee SM. A randomized clinical trial comparison between pivotal response treatment (PRT) and structured applied behavior analysis (ABA) intervention for children with autism. J Autism Dev Disord. 2014;44(11):2769-77.
Reichow B, Steiner AM, Volkmar F. Social skills groups for people aged 6 to 21 with autism spectrum disorders (ASD). Cochrane Database of Systematic Reviews. 2012;(7).
Loovas OI. Behavioral treatment and normal educational and intellectual functioning in young autistic children. J Consult Clin Psychol. 1987;55(1):3-9.
Sinha Y, Silove N, Hayen A, Williams K. Auditory integration training and other sound therapies for autism spectrum disorders (ASD). Cochrane Database of Systematic Reviews. 2011;(12).
Geretsegger M, Elefant C, Mössler KA, Gold C. Music therapy for people with autism spectrum disorder. Cochrane Database of Systematic Reviews. 2014;(6).
Baum SH, Stevenson RA, Wallace MT. Behavioral, perceptual, and neural alterations in sensory and multisensory function in autism spectrum disorder. Prog Neurobiol. 2015;134:140-60.
Farmer C, Butter E, Mazurek MO, Cowan C, Lianhart J, Cook EH et al. Aggression in children with autism spectrum disorder and a clinic-referred comparison group. Autism. 2015;19(3):281-91.
Hirsch LE, Pringsheim T. Aripiprazole for autism spectrum disorders (ASD). Cochrane Database of Systematic Reviews. 2016;(6).
Perry R, Campbell M, Adams P, Lynch N, Spencer EK, Curren EL et al. Long-term efficacy of haloperidol in autistic children: Continuous versus discontinuous drug administration. J Am Acad Child Adolesc Psychiatry. 1989;28(1):87-92.
Politte LC, Henry CA, McDougle CJ. Psychopharmacological interventions in autism spectrum disorder. Harv Rev Psychiatry. 2014;22(2):76-92.
Hurwitz R, Blackmore R, Hazell P, Williams K, Woolfenden S. Tricyclic antidepressants for autism spectrum disorders (ASD) in children and adolescents. Cochrane Database Syst Rev. 201;(3).
Farmer C, Thurm A, Grant P. Pharmacotherapy for the core symptoms in autistic disorder: Current status of the research. Drugs. 2013;73(4):303-14.
Fernández-Jaén A, Martín Fernández-Mayoralas D, Fernández-Perrone AL, Calleja-Pérez B, Muñoz-Jareño N, López-Arribas S. Autism and attention deficit hyperactivity disorder: Pharmacological intervention. Rev Neurol. 2013;57(Suppl 1):S205-10.
Devnani PA, Hegde AU. Autism and sleep disorders. J Pediatr Neurosci. 2015;10(4):304-7.
Hirota T, Veenstra-Vander Weele J, Hollander E, Kishi T. Antiepileptic medications in autism spectrum disorder: A systematic review and meta-analysis. J Autism Dev Disord. 2014;44(4):948-57.
Aldenkamp A, Besag F, Gobbi G, Caplan R, Dunn DW, Sillanpää M. Psychiatric and Behavioural Disorders in Children with Epilepsy (ILAE Task Force Report): Adverse cognitive and behavioural effects of antiepileptic drugs in children. Epileptic Disord. 2016;(16).
Nikvarz N, Alaghband-Rad J, Tehrani-Doost M, Alimadadi A, Ghaeli P. Comparing efficacy and side effects of memantine vs. risperidone in the treatment of autistic disorder. Pharmacopsychiatry. 2016;(14).
Preckel K, Kanske P, Singer T, Paulus FM, Krach S. Clinical trial of modulatory effects of oxytocin treatment on higher-order social cognition in autism spectrum disorder: A randomized, placebo-controlled, double-blind and crossover trial. BMC Psychiatry. 2016;16(1):329.
Tan ML, Ho JJ, Teh KH. Polyunsaturated fatty acids (PUFAs) for children with specific learning disorders. Cochrane Database Syst Rev. 2016;(9).
Williams KW, Wray JJ, Wheeler DM. Intravenous secretin for autism spectrum disorder. Cochrane Database Syst Rev. 2005.
Lange KW, Hauser J, Reissmann A. Gluten-free and casein-free diets in the therapy of autism. Curr Opin Clin Nutr Metab Care. 2015;18(6):572-5.
Lionetti E, Leonardi S, Franzonello C, Mancardi M, Ruggieri M, Catassi C. Gluten Psychosis: Confirmation of a new clinical entity. Nutrients. 2015;7(7):5532- 5539.
Alonzo L, Zaragoza C, Colmenero I, Martinez MJ, Arcas J. Rasgos clínicos sugestivos del espectro autista como manifestación de sensibilidad al gluten no celíaca. An Pediatr. 2014;81:409-11.
Cheuk DKL, Wong V, Chen W. Acupuncture for autism spectrum disorders (ASD). Cochrane Database of Systematic Reviews. 2011;(9).
Millward C, Ferriter M, Calver SJ, Connell-Jones JS, Stevenson SW, Silove N, Williams K. Chelation for autism spectrum disorder (ASD). Cochrane Database Syst Rev. 2015.
Ozone therapy and its use in medicine: Dr. Jekyll or Mr. Hyde? Cardiology. 2016;136(2):145-146.
James S, Stevenson SW, Silove N, Williams K. Chelation for autism spectrum disorder (ASD). Cochrane Database of Systematic Reviews. 2015;(5).
Kanner L. Childhood psychosis: initial studies and new insights. New York: Winston/Wiley; 1973.
Henninger NA, Taylor JL. Outcomes in adults with autism spectrum disorders: A historical perspective. Autism. 2012;17(1):103-116.
Hirvikoski T, Mittendorfer-Rutz E, Boman M, Larsson H, Lichtenstein P, Bolte S. Premature mortality in autism spectrum disorder. Br J Psychiatry. 2016;208:232-238.
Oono IP, Honey EJ, McConachie H. Parent-mediated early intervention for young children with autism spectrum disorders (ASD). Cochrane Database of Systematic Reviews. 2013;(4).