<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0120-8748</journal-id>
<journal-title><![CDATA[Acta Neurológica Colombiana]]></journal-title>
<abbrev-journal-title><![CDATA[Acta Neurol Colomb.]]></abbrev-journal-title>
<issn>0120-8748</issn>
<publisher>
<publisher-name><![CDATA[Asociación Colombiana de Neurología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-87482016000300011</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Identificación temprana de trastornos del espectro autista]]></article-title>
<article-title xml:lang="en"><![CDATA[Early diagnosis of autism spectrum disorders]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gutiérrez-Ruiz]]></surname>
<given-names><![CDATA[Karaol]]></given-names>
</name>
<xref ref-type="aff" rid="A01"/>
</contrib>
</contrib-group>
<aff id="A01">
<institution><![CDATA[,Universidad Tecnológica de Bolívar  ]]></institution>
<addr-line><![CDATA[Cartagena ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2016</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2016</year>
</pub-date>
<volume>32</volume>
<numero>3</numero>
<fpage>238</fpage>
<lpage>247</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-87482016000300011&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-87482016000300011&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-87482016000300011&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[La identificación temprana del trastorno del espectro autista (TEA) es un área de investigación que ha recibido mucha atención durante los últimos años. En Colombia, las instituciones especializadas en el autismo impulsadas por la Organización Mundial del Autismo se están pronunciando acerca de la necesidad de la detección precoz de TEA en los servicios sanitarios de atención primaria y en contextos educativos. Por esta razón, el objetivo de este trabajo es realizar una revisión narrativa de la literatura científica sobre la detección temprana de TEA con el fin de identificar los indicadores tempranos y aproximaciones al tamizaje o cribado de esta condición. Para ello, se revisaron las bases de datos electrónicas EBSCO, Medline, PsycINFO, Scopus, ScienceDirect y Academic Search Complete, buscando los términos early detection, early diagnosis, screening test, mass screening, y se combinaron con el término autism; sin restricción de campo, sin límite temporal y limitada a los idiomas inglés y español. Las investigaciones apuntan a que es posible detectar tempranamente el riesgo de TEA considerando principalmente las alteraciones tempranas en la interacción y comunicación social. Existen diferentes instrumentos para el cribado de TEA, se comentan sus propiedades psicométricas y utilidad clínica.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Early diagnosis of ASD is an area of research that has received much attention in recent years. In Colombia, institutions specializing in autism, driven by the World Autism Organization, are speaking about the need for early detection of ASD in health primary care and in educational settings. Therefore, the objective of this work is to perform a narrative review of the scientific literature on the early identification of ASD in order to recognize early indicators and approaches to screening for this condition. To do this, the electronic databases EBSCO, Medline, PsyclNFO, Scopus, ScienceDirect and Academic Search Complete were reviewed, searching the terms early detection, early diagnosis, screening test, mass screening, and combined with the term autism; unrestricted field, without temporary limit, and limited to the English and Spanish languages. Research suggests that it is possible to detect, early, the risk of ASD mainly considering initial alterations in social interaction and communication. There are different tools for screening for ASD, their psychometric properties and clinical utility are discussed.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[autismo]]></kwd>
<kwd lng="es"><![CDATA[trastorno del espectro autista]]></kwd>
<kwd lng="es"><![CDATA[identificación temprana]]></kwd>
<kwd lng="es"><![CDATA[diagnóstico temprano]]></kwd>
<kwd lng="en"><![CDATA[Autism]]></kwd>
<kwd lng="en"><![CDATA[autism spectrum disorder]]></kwd>
<kwd lng="en"><![CDATA[early detection]]></kwd>
<kwd lng="en"><![CDATA[early diagnosis]]></kwd>
</kwd-group>
</article-meta>
</front><body><![CDATA[  <font face="verdana" size="2">      <p>Revisi&oacute;n</p>      <p align="center"><font size="4"><b>Identificaci&oacute;n temprana de trastornos del espectro autista</b></font></p>     <p align="center"><font size="3"><b>Early diagnosis of autism spectrum disorders</b></font></p>      <p align="center">Karaol Guti&eacute;rrez-Ruiz (1)</p>      <p>(1) Ph.D, Neuropsicolog&iacute;a, profesora del Programa de Psicolog&iacute;a, Universidad Tecnol&oacute;gica de Bol&iacute;var, Cartagena, Colombia</p>      <p>Recibido: 12/01/16. Aceptado: 27/05/16.    <br> Correspondencia: Karol Guti&eacute;rrez-Ruiz, <a href="mailto:kgutierrez@unitecnologica.edu.co">kgutierrez@unitecnologica.edu.co</a></p>  <hr>     <p><font size="3"><b>Resumen</b></font></p>      <p>La identificaci&oacute;n temprana del trastorno del espectro autista (TEA) es un &aacute;rea de investigaci&oacute;n que ha recibido mucha atenci&oacute;n durante los &uacute;ltimos a&ntilde;os. En Colombia, las instituciones especializadas en el autismo impulsadas por la Organizaci&oacute;n Mundial del Autismo se est&aacute;n pronunciando acerca de la necesidad de la detecci&oacute;n precoz de TEA en los servicios sanitarios de atenci&oacute;n primaria y en contextos educativos. Por esta raz&oacute;n, el objetivo de este trabajo es realizar una revisi&oacute;n narrativa de la literatura cient&iacute;fica sobre la detecci&oacute;n temprana de TEA con el fin de identificar los indicadores tempranos y aproximaciones al tamizaje o cribado de esta condici&oacute;n. Para ello, se revisaron las bases de datos electr&oacute;nicas EBSCO, Medline, PsycINFO, Scopus, ScienceDirect y Academic Search Complete, buscando los t&eacute;rminos early detection, early diagnosis, screening test, mass screening, y se combinaron con el t&eacute;rmino autism; sin restricci&oacute;n de campo, sin l&iacute;mite temporal y limitada a los idiomas ingl&eacute;s y espa&ntilde;ol. Las investigaciones apuntan a que es posible detectar tempranamente el riesgo de TEA considerando principalmente las alteraciones tempranas en la interacci&oacute;n y comunicaci&oacute;n social. Existen diferentes instrumentos para el cribado de TEA, se comentan sus propiedades psicom&eacute;tricas y utilidad cl&iacute;nica.</p>     ]]></body>
<body><![CDATA[<p><b>Palabras clave: </b> autismo, trastorno del espectro autista, identificaci&oacute;n temprana, diagn&oacute;stico temprano (DeCS).</p>  <hr>     <p><font size="3"><b>Summary</b></font></p>      <p>Early diagnosis of ASD is an area of research that has received much attention in recent years. In Colombia, institutions specializing in autism, driven by the World Autism Organization, are speaking about the need for early detection of ASD in health primary care and in educational settings. Therefore, the objective of this work is to perform a narrative review of the scientific literature on the early identification of ASD in order to recognize early indicators and approaches to screening for this condition. To do this, the electronic databases EBSCO, Medline, PsyclNFO, Scopus, ScienceDirect and Academic Search Complete were reviewed, searching the terms early detection, early diagnosis, screening test, mass screening, and combined with the term autism; unrestricted field, without temporary limit, and limited to the English and Spanish languages. Research suggests that it is possible to detect, early, the risk of ASD mainly considering initial alterations in social interaction and communication. There are different tools for screening for ASD, their psychometric properties and clinical utility are discussed.</p>     <p><b>Key words: </b> Autism, autism spectrum disorder, early detection, early diagnosis (MeSH).</p>  <hr>     <p><font size="3"><b>Introducci&oacute;n</b></font></p>      <p>Los trastornos del espectro autista (TEA) son un conjunto de cuadros cl&iacute;nicos de inicio en la infancia temprana, representados en un espectro de severidad, que limitan el desarrollo de habilidades sociales y comunicativas, entre otros aspectos cognitivos. Pueden hallarse, adem&aacute;s, patrones restringidos, estereotipados y repetitivos de comportamientos, intereses y actividades<sup>1-8</sup>. El grado de severidad del cuadro cl&iacute;nico puede variar de un sujeto a otro, pero los s&iacute;ntomas generan impedimento cl&iacute;nicamente significativo a nivel social, escolar y/o ocupacional<sup>9,10</sup>.</p>      <p>En el &aacute;mbito internacional se ha estimado que la prevalencia de TEA se ha incrementado en los &uacute;ltimos a&ntilde;os, pasando de 2/10000 a cifras que oscilan entre 2 y 6.7/1000, lo que significa que hay un caso de TEA por cada 150-500 personas<sup>11</sup>. Estudios m&aacute;s recientes reportan 1 caso por cada 180 personas<sup>12</sup>. As&iacute;, los TEA se constituyen en uno de los trastornos graves m&aacute;s frecuentes que afectan el desarrollo de los ni&ntilde;os desde edades tempranas<sup>13</sup>.</p>      <p>Los trabajos para la identificaci&oacute;n temprana de TEA durante los primeros dos a&ntilde;os de vida cada vez son m&aacute;s fruct&iacute;feros, esto es debido a un mayor conocimiento acerca de los signos tempranos de TEA, el desarrollo de instrumentos de cribado, los diagn&oacute;sticos efectivos, y la creciente evidencia sobre la estabilidad del diagn&oacute;stico alrededor de los dos a&ntilde;os de edad<sup>14</sup>. El objetivo de este art&iacute;culo es realizar una narrativa de la literatura sobre la detecci&oacute;n temprana de TEA.</p>      <p><b>Indicadores tempranos de TEA</b></p>      <p>Se han realizado esfuerzos importantes para detectar signos de TEA desde los primeros a&ntilde;os de vida<sup>15-31</sup>, con la convicci&oacute;n de que la detecci&oacute;n precoz es la mejor oportunidad para una intervenci&oacute;n temprana, lo que maximiza los resultados en t&eacute;rminos de desarrollo en la infancia, y mejora la calidad de vida de los ni&ntilde;os y de sus familias<sup>15</sup>.</p>      ]]></body>
<body><![CDATA[<p>Existe evidencia a favor de los beneficios de la intervenci&oacute;n en casos de TEA antes de los cuatro a&ntilde;os con una duraci&oacute;n de al menos dos a&ntilde;os. Se ha reportado mejora en el CI y ganancia a nivel de capacidad de adaptaci&oacute;n, un incremento en las oportunidades para alcanzar un mayor desarrollo de habilidades lingü&iacute;sticas y socio-cognitivas, vi&eacute;ndose favorecida la funcionalidad; y una mayor probabilidad de inclusi&oacute;n en aula regular<sup>32-43</sup>.</p>      <p>Barbaro y Dissanayake<sup>15</sup> afirmaron que si bien los TEA tienen una base neurobiol&oacute;gica incuestionable, el conocimiento limitado de la misma ha hecho que el diagn&oacute;stico dependa de las observaciones comportamentales y de la historia evolutiva del ni&ntilde;o. Los primeros estudios sobre diagn&oacute;stico temprano de TEA implicaron el uso retrospectivo de videos caseros con el fin de examinar las caracter&iacute;sticas comportamentales en ni&ntilde;os que hab&iacute;an sido previamente diagnosticados, y el reporte de sus padres<sup>44-49</sup>. Las investigaciones desarrolladas en ni&ntilde;os con TEA, en edades comprendidas entre el nacimiento y los dos a&ntilde;os mostraron alteraciones en la conducta social y la comunicaci&oacute;n. As&iacute;, entre las dificultades a nivel social descritas se destacan: ignorar a las personas, tendencia a aislarse, pobre interacci&oacute;n social, contacto visual disminuido, ausencia de respuesta al llamado por el nombre, no se&ntilde;alar objetos ni mostrar objetos que son de inter&eacute;s, alteraci&oacute;n en protode-clarativos y en el uso emergente de gestos<sup>44-45,48,50-53</sup>.</p>      <p>En el an&aacute;lisis de videos de ni&ntilde;os que posteriormente fueron diagnosticados con TEA, se encontr&oacute; que estos presentan d&eacute;ficits en el establecimiento de contacto visual y expresi&oacute;n de la sonrisa social alrededor de los seis meses, en comparaci&oacute;n con ni&ntilde;os sin TEA. Los ni&ntilde;os con TEA muestran dificultades para iniciar y responder a conductas que requieren atenci&oacute;n conjunta, si bien no muestran mayor impedimento para solicitar la atenci&oacute;n de adultos<sup>50,54,55</sup>. Se ha encontrado poca exploraci&oacute;n de objetos, disminuci&oacute;n en la respuesta de orientaci&oacute;n entre los cero y seis meses<sup>56</sup>, d&eacute;ficit en la orientaci&oacute;n al llamado por el nombre en ni&ntilde;os de ocho meses<sup>50,52</sup>, retraimiento, pobre iniciativa social, hipoactividad y falta de modulaci&oacute;n emocional antes de los 12 meses<sup>57</sup>.</p>      <p>Los estudios basados en el an&aacute;lisis del reporte retrospectivo de los padres se han realizado mediante el diligen-ciamiento de cuestionarios sobre el desarrollo temprano de los ni&ntilde;os, preocupaciones de los padres en relaci&oacute;n al desarrollo, y registros de la edad en la que se empezaron a observar conductas problem&aacute;ticas en el desarrollo de los peque&ntilde;os. Vostanis <i>et al.<sup>58</sup> </i>utilizaron el reporte de padres para estudiar los signos tempranos de TEA. Los autores encontraron que los ni&ntilde;os entre 12 y 18 meses tienen bajas puntuaciones en &iacute;tems que miden: atenci&oacute;n social y comunicaci&oacute;n, imitaci&oacute;n, se&ntilde;alar objetos, jugar a &quot;cucu&quot;, disfrutar de caricias, buscar la aprobaci&oacute;n de los padres, poco inter&eacute;s en otros ni&ntilde;os y saludar espont&aacute;neamente. En otro trabajo en el que se evaluaron comportamientos presentes antes de los 2 a&ntilde;os<sup>59</sup>, se encontr&oacute; dificultad en la capacidad para comprender y responder a las necesidades de los dem&aacute;s, en la comprensi&oacute;n de situaciones sociales, falta de disfrute en las interacciones sociales con poco inter&eacute;s en otros ni&ntilde;os, contacto visual disminuido, y falta de referencia social evidenciada en la ausencia de conductas de atenci&oacute;n conjunta.</p>      <p>Baranek et al.<sup>60</sup> desarrollaron el cuestionario First Year Inventory, dise&ntilde;ado para ser diligenciado por padres de ni&ntilde;os de hasta 12 meses. Al ser aplicado a ni&ntilde;os con TEA y comparar el desempe&ntilde;o de este grupo con el de ni&ntilde;os con desarrollo t&iacute;pico y retraso en el desarrollo, se encontr&oacute; que los ni&ntilde;os con TEA presentan desde edades muy tempranas dificultades para responder al llamado por el nombre, muestran poco inter&eacute;s en pares, no muestran sonrisa social y las expresiones faciales son limitadas, no juegan al &quot;cucu&quot; y poco demandan la atenci&oacute;n del cuidador. En este estudio se hall&oacute; que los &iacute;tems que eval&uacute;an las conductas de imitaci&oacute;n, comunicaci&oacute;n no verbal, procesamiento sensorial, patrones restrictivos de comportamiento y conductas repetitivas, no discriminan muy bien entre ni&ntilde;os con TEA y ni&ntilde;os con desarrollo t&iacute;pico.</p>      <p>Werner y Dawson<sup>61</sup> desarrollaron un instrumento llamado <i>The Early Development Interwiew </i>mediante el cual evaluaron el desarrollo de ni&ntilde;os con TEA, desarrollo t&iacute;pico y retraso en el desarrollo, con edades comprendidas entre el nacimiento y los 2 a&ntilde;os. En su estudio encontraron que los ni&ntilde;os con TEA tuvieron mayores d&eacute;ficits sociales que los ni&ntilde;os con desarrollo t&iacute;pico entre los tres y seis meses, y mayores d&eacute;ficits que ni&ntilde;os con retraso en el desarrollo entre los 13 y los 15 meses. As&iacute;, en ni&ntilde;os con TEA se observ&oacute; contacto visual disminuido, fallos en la respuesta al llamado por el nombre, d&eacute;ficits en el uso de la atenci&oacute;n conjunta y poco inter&eacute;s en la interacci&oacute;n social. Los autores afirmaron que las conductas sociales (atenci&oacute;n conjunta y comunicaci&oacute;n social) son el mejor indicador de diagn&oacute;stico diferencial entre ni&ntilde;os con TEA y sin TEA, lo que tambi&eacute;n se ha encontrado en otros estudios<sup>60-63.</sup></p>      <p>El aumento en el conocimiento del fenotipo temprano de los TEA ha permitido identificar prospectivamente estos cuadros cl&iacute;nicos en la infancia temprana<sup>50,52,54,64,65,67</sup>. Los estudios prospectivos permiten al investigador provocar comportamientos a una edad espec&iacute;fica, en lugar de depender de la presentaci&oacute;n espont&aacute;nea en video o el informe retrospectivo de los padres, lo que supone algunas ventajas<sup>15</sup>. Este tipo de investigaciones realizadas con hermanos menores de ni&ntilde;os con TEA, considerados como sujetos con alto riesgo de autismo, han contribuido a un mayor conocimiento de este grupo de trastornos<sup>68</sup>, y han corroborado los hallazgos de investigaciones que recurren al an&aacute;lisis retrospectivo de videos.</p>      <p>En los estudios prospectivos se han encontrado d&eacute;ficits que predicen el diagn&oacute;stico de TEA a los 2 &oacute; 3 a&ntilde;os, entre los que se encuentran alteraciones en la interacci&oacute;n social alrededor del primer a&ntilde;o de vida<sup>65,68</sup>, y entre los seis y 12 meses, con variaciones en el afecto e irritabilidad<sup>64</sup>. Se han descrito alteraciones en la esfera social, intersubjetiva y comunicativa de ni&ntilde;os entre los 18 y 24 meses de edad con dificultad para establecer contacto visual, cambiar el foco atencional y seguir objetos con la mirada, y atenci&oacute;n conjunta limitada<sup>69</sup>. De igual manera, se han reportado alteraciones en la comunicaci&oacute;n, que se evidencian entre los 12 y 14 meses, caracterizadas por disminuci&oacute;n en la respuesta al llamado por el nombre<sup>67</sup>, poca comprensi&oacute;n de palabras y producci&oacute;n de gestos<sup>66,67</sup>, y a los 18 meses retraso en la comprensi&oacute;n de frases, en la comprensi&oacute;n y producci&oacute;n de palabras, y en el uso de gestos. As&iacute;, se propone que la vigilancia del desarrollo infantil debe incluir el control de retraso en la producci&oacute;n y comprensi&oacute;n de gestos, ya que puede ser uno de los primeros signos de TEA<sup>66</sup>.</p>      <p>En la revisi&oacute;n sistem&aacute;tica de la literatura sobre identificaci&oacute;n temprana de signos de TEA realizada por Saint-Georges et al.<sup>70</sup>, se concluye sobre el curso del desarrollo de signos tempranos de TEA que la sintomatolog&iacute;a caracter&iacute;stica -alteraciones en la socializaci&oacute;n y comunicaci&oacute;n- est&aacute; presente desde el primer a&ntilde;o de vida, incluso antes de los seis meses, pero no de forma marcada. Esto ha hecho que el diagn&oacute;stico temprano sea dif&iacute;cil. Los autores resaltan que es posible que los ni&ntilde;os sanos durante los primeros meses de vida muestren atenci&oacute;n conjunta, reacciones emocionales e inter&eacute;s social, pero los ni&ntilde;os con TEA poco hacen uso de estas habilidades a temprana edad. Los ni&ntilde;os pueden progresar en el desarrollo de habilidades sociales y comunicativas hasta los 18 meses antes de perder habilidades de interacci&oacute;n social y apego dominadas. Durante el segundo a&ntilde;o hay una mayor afectaci&oacute;n a nivel de socializaci&oacute;n, con poco inter&eacute;s en otras personas, conductas de evitaci&oacute;n, disminuci&oacute;n del uso de gestos comunicativos, en el establecimiento de contacto visual, y de la actividad social. Si bien las habilidades sociales intersubjetivas como la atenci&oacute;n conjunta, se&ntilde;alar y solicitar, se ven reducidas desde los primeros meses, estas pueden aumentar en el segundo a&ntilde;o para finalmente disminuir al final de este periodo. Respecto a las habilidades comunicativas, refieren que las vocalizaciones pueden disminuir en los primeros seis meses, aumentar en el segundo semestre con estancamiento del habla en el segundo a&ntilde;o, aunque en algunos casos las habilidades verbales no se ven tan afectadas. Finalmente, la comprensi&oacute;n del lenguaje puede verse alterada en grado variable, ya que si bien los ni&ntilde;os con TEA alrededor de los 12 meses de edad atienden menos al lenguaje verbal y son menos sensibles al llamado por su nombre, hay ni&ntilde;os que demuestran adecuada capacidad de comprensi&oacute;n en el primer a&ntilde;o y en ocasiones con mejora en el segundo a&ntilde;o<sup>70</sup>.</p>      <p>Respecto a la edad de inicio y de reconocimiento de los s&iacute;ntomas en los casos de TEA, se ha encontrado que muchos ni&ntilde;os manifiestan problemas en el desarrollo entre los 12 y los 24 meses<sup>71-73</sup>, y algunos muestran un desarrollo at&iacute;pico antes de los 12 meses<sup>44-46,48,49,74</sup>. En cuanto al s&iacute;ndrome de Asperger, ni el DSM-IV-TR<sup>75</sup>, ni el CIE-10<sup>76</sup> especifican la edad de inicio del s&iacute;ndrome. Sin embargo, en la literatura cient&iacute;fica se ha reportado que la edad de reconocimiento de los s&iacute;ntomas es posterior a la observada en el autismo debido a que estos ni&ntilde;os desarrollan habilidades lingü&iacute;sticas apropiadas para la edad y la severidad de los s&iacute;ntomas es menor que en el autismo cl&aacute;sico. As&iacute;, el s&iacute;ndrome de Asperger usualmente no se identifica hasta entrada la etapa escolar, por lo general, posterior a los cuatro a&ntilde;os<sup>77,78</sup>. Sin embargo, se han encontrado casos en los que se reporta que el diagn&oacute;stico es posible antes de los 36 meses<sup>79-80</sup>.</p>      ]]></body>
<body><![CDATA[<p><b>El diagn&oacute;stico de TEA</b></p>      <p>Si bien se ha descrito que la aparici&oacute;n de los signos y s&iacute;ntomas de TEA ocurre a temprana edad, el diagn&oacute;stico no se hace sino entre los tres y cuatro a&ntilde;os, e incluso el tiempo puede aumentar cuando se trata de s&iacute;ndrome de Asperger<sup>15</sup>. Entre las razones por las cuales se presenta este problema se destaca el hecho de que los criterios diagn&oacute;sticos vigentes (DSM-IV-TR, DSM-V y CIE-10) contemplan conductas que pueden no estar presentes antes de los 36 meses, por lo que dif&iacute;cilmente son observadas en la primera infancia (ejemplo: dificultad en la socializaci&oacute;n con pares, conductas repetitivas, estereotipias e intereses restringidos)<sup>81,82</sup>. Adicionalmente, los m&eacute;dicos y pediatras carecen de un entrenamiento para la identificaci&oacute;n de signos tempranos de TEA, con poca experiencia cl&iacute;nica para identificar s&iacute;ntomas sutiles de TEA. Con frecuencia los cl&iacute;nicos aten&uacute;an las preocupaciones de los padres y les piden que no se preocupen ya que todo marcha bien<sup>15,83</sup>.</p>      <p>En Colombia, la Liga Colombiana de Autismo impulsada por la Organizaci&oacute;n Mundial del Autismo, se est&aacute; pronunciando acerca de la necesidad de la detecci&oacute;n precoz de TEA en los servicios sanitarios de atenci&oacute;n primaria y en contextos educativos<sup>84,85</sup>. En este proceso juega un papel muy importante los instrumentos de cribado, que si bien no proveen un diagn&oacute;stico, permiten determinar la necesidad de una evaluaci&oacute;n posterior en profundidad del desarrollo de los ni&ntilde;os.</p>      <p><b>Instrumentos de cribado de TEA</b></p>      <p>Existen diferentes instrumentos &uacute;tiles para el diagn&oacute;stico de TEA, sin embargo, las dos medidas est&aacute;ndar de oro para el diagn&oacute;stico del autismo, <i>The Autism Diagnostic Observation Schedule </i>ADOS<sup>86</sup> y <i>The Autism Diagnostic Interview </i>ADI-R<sup>87</sup>, no fueron desarrolladas inicialmente para ser aplicadas a ni&ntilde;os menores de 24 meses. Si bien se han realizado estudios iniciales para evaluar la estabilidad del diagn&oacute;stico cl&iacute;nico de TEA mediante la administraci&oacute;n de un m&oacute;dulo para ni&ntilde;os peque&ntilde;os del ADOS (ADOS-T)<sup>88</sup>, su utilidad en estas edades a&uacute;n est&aacute; en estudio<sup>89</sup>.</p>      <p>Stone et al.<sup>89</sup>, refieren que uno de los desaf&iacute;os m&aacute;s grandes para los investigadores del autismo ha sido traducir el conocimiento emp&iacute;rico producto de las investigaciones sobre signos tempranos de TEA, en aplicaciones cl&iacute;nicas que permitan identificar factores de riesgo de TEA en edades tempranas. As&iacute; se han desarrollado diferentes medidas de cribado de TEA para ser aplicadas a la poblaci&oacute;n general y en contextos pedi&aacute;tricos (<a href="#t1">tabla 1</a>). Entre los principales instrumentos de cribado de TEA se encuentra <i>The Checklist for Autism in Toddlers </i>(CHAT), traducido al espa&ntilde;ol como Lista de verificaci&oacute;n para la detecci&oacute;n del autismo en ni&ntilde;os peque&ntilde;os<sup>84</sup>. Es una herramienta breve dise&ntilde;ada para ser aplicada en el sistema de salud de atenci&oacute;n primaria con el fin de identificar a ni&ntilde;os de 18 meses de edad con riesgo de TEA. Baron-Cohen et al.<sup>90</sup> usaron el CHAT en 16.235 ni&ntilde;os de 18 meses de edad durante un chequeo de rutina de desarrollo. Doce ni&ntilde;os fueron identificados con riesgo de TEA, diez de los cuales recibieron el diagn&oacute;stico de TEA y dos recibieron un diagn&oacute;stico de retraso en el desarrollo; los diagn&oacute;sticos se mantuvieron estables durante 3.5 a&ntilde;os, con una tasa de falsos positivos del 16.6 %. En un estudio de seguimiento a largo plazo de esta misma poblaci&oacute;n, se encontr&oacute; que aunque el CHAT ten&iacute;a una excelente especificidad (0.98), carec&iacute;a de sensibilidad (0.38), ya que 50 ni&ntilde;os adicionales se identificaron con TEA a la edad de 7 a&ntilde;os y ninguno de ellos hab&iacute;a sido identificado como &quot;en riesgo&quot; a los 18 meses. La baja sensibilidad del CHAT reduce su uso como instrumento de cribado, ya que un gran porcentaje de los ni&ntilde;os con TEA (aproximadamente el 60 %) no se identific&oacute; por el CHAT a los 18 meses<sup>91</sup>.</p>      <p align="center"><a name="t1"></a><img src="img/revistas/anco/v32n3/v32n3a11t1.jpg"></p>      <p>Con el fin de mejorar la sensibilidad del instrumento, se desarroll&oacute; una versi&oacute;n modificada del CHAT, <i>The Modified Checklist for Autism in Toddlers </i>(M-CHAT), traducida al espa&ntilde;ol como lista de verificaci&oacute;n para la detecci&oacute;n del autismo en ni&ntilde;os peque&ntilde;os modificada. El instrumento depende del informe de los padres y del seguimiento a las respuestas de los mismos mediante una entrevista telef&oacute;nica. Est&aacute; dise&ntilde;ado para ser aplicado a ni&ntilde;os de 24 meses de edad. El M-CHAT fue aplicado en una poblaci&oacute;n general de 1.122 ni&ntilde;os de 18 a 25 meses de edad y en una muestra de alto riesgo de TEA (171 ni&ntilde;os de 18 a 30 meses de edad). Se encontr&oacute; que seis &iacute;tems relacionados con las &aacute;reas de interacci&oacute;n social y comunicaci&oacute;n discriminaban mejor entre los ni&ntilde;os diagnosticados con y sin TEA, estos son: el uso de protodeclarativos, respuesta al nombre, el inter&eacute;s en los compa&ntilde;eros, compartir intereses con los padres, seguimiento visual y la imitaci&oacute;n/juego simb&oacute;lico. Se encontr&oacute; que la sensibilidad oscilaba entre 0.87 y 0.97; la especificidad vari&oacute; de 0.95 a 0.99, y el PPV vari&oacute; 0.36 hasta 0.80. Estos datos sugieren que el M-CHAT es capaz de discriminar entre los TEA y otros problemas del desarrollo a los 24 meses de edad y tiene una mayor sensibilidad para la detecci&oacute;n de trastornos del espectro autista que el CHAT<sup>92</sup>.</p>      <p>En los estudios de validaci&oacute;n del M-CHAT realizados en Estados Unidos<sup>92</sup>, Espa&ntilde;a<sup>93</sup>, Argentina<sup>94</sup>, China<sup>95</sup>, y Jap&oacute;n<sup>96</sup> se ha encontrado que los &iacute;tems psicom&eacute;tricamente m&aacute;s potentes entre todos los del M-CHAT son los que eval&uacute;an la atenci&oacute;n conjunta del ni&ntilde;o en respuesta a una solicitud de los padres. En el estudio de Ventola<sup>97</sup>, se encontr&oacute; que solo cuatro &iacute;tems diferenciaban significativamente a ni&ntilde;os con retraso en el desarrollo y alteraciones del lenguaje, de ni&ntilde;os con TEA, estos son todos los relacionados con la atenci&oacute;n conjunta y la sensibilidad social (respuesta al llamado por el nombre, se&ntilde;alar objetos, solicita atenci&oacute;n, y seguimiento visual). Esto refuerza el hecho de que la capacidad de respuesta social y los comportamientos relacionados con la atenci&oacute;n conjunta son d&eacute;ficits nucleares en los TEA.</p>      <p>Los instrumentos anteriores han sido criticados ya que por su naturaleza realizan una aproximaci&oacute;n categorial m&aacute;s que cuantitativa al cribado, lo que no es coherente con el hecho de que los TEA se expresen en un continuo. As&iacute;, se esperar&iacute;a que los instrumentos sean m&aacute;s cuantitativos que categ&oacute;ricos<sup>98</sup>. Con el fin de solventar el problema anterior se desarroll&oacute; en Reino Unido <i>The Quantitative Checklistfor Autism in Toddlers </i>(Q-CHAT)<sup>98</sup>, traducido al castellano como Cuestionario Cuantitativo para la Detecci&oacute;n del Autismo en Ni&ntilde;os Peque&ntilde;os, a partir de la modificaci&oacute;n de una versi&oacute;n previa, <i>The Modified Checklist for Autism in Toddlers </i>(M-CHAT)<sup>92</sup>.</p>      ]]></body>
<body><![CDATA[<p>El uso del Q-CHAT en la poblaci&oacute;n pedi&aacute;trica con TEA y la poblaci&oacute;n general ha arrojado resultados preliminares en cuanto a la presencia de signos aut&iacute;sticos que se observan con mayor frecuencia en grupos de ni&ntilde;os con TEA. En el trabajo de Allison et al.<sup>98</sup>, en el que se estudi&oacute; por primera vez las caracter&iacute;sticas psicom&eacute;tricas del instrumento, se encontr&oacute; que la puntuaci&oacute;n global media de los ni&ntilde;os con TEA (M = 51.8, DE = 14.3) fue superior a la puntuaci&oacute;n de los controles sanos (M = 26.7, DE = 7.8). El instrumento mostr&oacute; una fiabilidad adecuada con un Alfa de Cronbach de 0.83 (n = 330). Las propiedades psicom&eacute;tricas definitivas de la versi&oacute;n original del Q-CHAT a&uacute;n se encuentran en estudio, el instrumento ha sido adaptado en pa&iacute;ses hispanohablantes entre los que se encuentran Chile (Universidad de Talca), Argentina (INECO), y recientemente Colombia (Universidad Nacional de Colombia y Universidad Tecnol&oacute;gica de Bol&iacute;var).</p>      <p>Allison, Auyeung y Baron-Cohen<sup>99</sup> realizaron un estudio con la finalidad de identificar los 10 &iacute;tems con mayor valor predictivo del Q-CHAT, aplicando el instrumento a un grupo cl&iacute;nico de 126 ni&ntilde;os entre los 15 y 47 meses, y un grupo de comparaci&oacute;n de 754 ni&ntilde;os entre los 18 y 24 meses. Los resultados arrojaron 10 &iacute;tems con una media de valor predictivo alta (VVP = .58) y un punto de corte de 3 en esta versi&oacute;n abreviada. La sensibilidad fue de 0.91, la especificidad de 0.89 y la consistencia interna estimada mediante el estad&iacute;stico Alfa de Cronbach de 0.85. Los &iacute;tems seleccionados por su alto valor predictivo fueron el 1, 2, 5, 6, 9, 10, 15, 17, 19 y 25. El &iacute;tem con mayor valor predictivo encontrado en el estudio fue el &iacute;tem 1 (&iquest;La/lo mira su hijo/a cuando Ud. dice su nombre?), los &iacute;tems que mostraron mayor valor predictivo est&aacute;n relacionados con conductas a nivel de interacci&oacute;n social (atenci&oacute;n conjunta, contacto visual, empat&iacute;a) y comunicaci&oacute;n (juego simb&oacute;lico, primeras palabras, y uso de gestos simples).</p>      <p>Magiati et al.<sup>100</sup> estudi&oacute; la propiedades psicom&eacute;tricas y estructura factorial del Q-CHAT en una muestra de ni&ntilde;os en Singapur de 18 meses (n = 368) y 24 meses (n = 396) de edad. Se identific&oacute; una estructura de tres factores, dos de ellos principales (social/comunicativa y no-social/compor-tamental) con una consistencia interna aceptables (a = .76 y .69, respectivamente, a los 18 meses; .75 y .71 a los 24 meses). Las puntuaciones mostraron una distribuci&oacute;n normal en la poblaci&oacute;n general y caracter&iacute;sticas psicom&eacute;tricas parecidas a las reportadas previamente por Allison et al.<sup>98,99</sup>.</p>      <p>Otro instrumento de cribado es <i>The Screening Tool for Autism in Two-Years-Olds </i>(STAT)<sup>101,102</sup>. Fue dise&ntilde;ado para diferenciar ni&ntilde;os de 2 a&ntilde;os con riesgos de TEA de aquellos en riesgo de otros trastornos del desarrollo. Consta de 12 &iacute;tems que eval&uacute;an la reproducci&oacute;n, la imitaci&oacute;n motora, la comunicaci&oacute;n y las habilidades de atenci&oacute;n conjunta. Stone, McMahon y Henderson<sup>103</sup> estimaron la utilidad del STAT con ni&ntilde;os menores de 24 meses, y su capacidad para distinguir entre las formas m&aacute;s leves de TEA y otros problemas de desarrollo, esto se hizo mediante la administraci&oacute;n del instrumento a 71 ni&ntilde;os de alto riesgo (59 hermanos de ni&ntilde;os conTEA y 12 sujetos con retraso en el desarrollo) de 12 a 23 meses. Se encontr&oacute; que las propiedades de cribado para identificar a los ni&ntilde;os con TEA de 14 meses y mayores eran buenas (sensibilidad de 0.93; especificidad de 0.83; PPV = .68; VPN = .97), pero insuficiente para los ni&ntilde;os de 12 a 13 meses de edad, por lo que su uso en esta poblaci&oacute;n no es recomendado. <i>The Early Screening of Autistic Traits Questionnaire<sup>104</sup> </i>fue dise&ntilde;ado para el cribado de TEA en ni&ntilde;os entre los 14 y 15 meses. El instrumento fue puesto a prueba en un grupo de ni&ntilde;os de la poblaci&oacute;n general que hab&iacute;an puntuado positivo previamente en un instrumento de cribado de 4 &iacute;tems. Se encontr&oacute; que de estos, 18 ni&ntilde;os fueron diagnosticados con TEA, lo que sugiere que es posible detectar casos de TEA a una edad temprana. Los &iacute;tems con mayor valor predictivo fueron aquellos relacionados con conductas sociales y comunicativas, en tanto que los movimientos estereotipados mostraron ser menos predictivos de TEA. Se ha encontrado que el uso de este instrumento en la poblaci&oacute;n general no es recomendado dado su baja sensibilidad y el hallazgo de un n&uacute;mero elevado de falsos positivos<sup>105</sup>.</p>      <p><i>The Autism Detection in Early Childhood </i>(ADEC)<sup>106</sup>, previamente conocido como <i>The Flinders ObservationalSchedule of PreverbalAutistic Characteristics, </i>es una escala de observaci&oacute;n semiestructurada para la identificaci&oacute;n temprana de alteraciones en la interacci&oacute;n social y comunicaci&oacute;n caracter&iacute;sticos de TEA. Es una herramienta aplicable a ni&ntilde;os desde los 12 meses que puede ser usada tanto por cl&iacute;nicos como por no cl&iacute;nicos. El instrumento tiene una buena consistencia interna (Alfa de Cronbach de 0.85), una buena fiabilidad test-retest (r = .82), y alta confiabilidad entre evaluadores (r = .97). La especificidad de la ADEC es de 0.80, y la sensibilidad de 0.70, y aumenta a 0.90 y 0.88, respectivamente, cuando se consideran s&oacute;lo los ni&ntilde;os menores de 30 meses.</p>      <p>Finalmente, <i>The Autism Observation Scale for Infants<sup>1101 </sup></i>es una escala de observaci&oacute;n semiestructurada basada en el juego, dise&ntilde;ada para evaluar las manifestaciones conductua-les de TEA entre los seis y 24 meses de edad en un grupo de hermanos de ni&ntilde;os con TEA. La sensibilidad y especificidad de la escala es de 0.84 y 0.98, respectivamente. Respecto a sus propiedades psicom&eacute;tricas, el instrumento se aplic&oacute; a 5.385 ni&ntilde;os de la poblaci&oacute;n general, de los cuales 60 mostraron signos de TEA. De los 60 ni&ntilde;os detectados, 56 (93 %) entre los nueve y 24 meses fueron diagnosticados. As&iacute;, la sensibilidad del instrumento es muy buena, sin embargo, no fue capaz de discriminar adecuadamente entre ni&ntilde;os con TEA y ni&ntilde;os con retraso en el desarrollo del lenguaje, lo que limita su uso como instrumento cl&iacute;nico de cribado.</p>      <p><font size="3"><b>Conclusi&oacute;n</b></font></p>      <p>La identificaci&oacute;n temprana de riesgo de TEA es hoy por hoy una realidad, aunque debe realizarse con cautela por las implicaciones &eacute;ticas que puede tener falsos positivos. Los resultados de investigaciones en el &aacute;mbito internacional han facilitado la descripci&oacute;n de signos tempranos de TEA, incluso desde los 18 meses; y se han realizado m&uacute;ltiples esfuerzos por traducir estos hallazgos en aplicaciones cl&iacute;nicas que permitan el cribado de TEA en edades tempranas.</p>      <p>Es necesario que en pa&iacute;ses como Colombia, el personal sanitario cuente con el entrenamiento adecuado para la identificaci&oacute;n de signos tempranos de TEA, y que los padres en la poblaci&oacute;n general est&eacute;n cada vez m&aacute;s atentos al proceso de desarrollo de sus hijos. En la medida en que se logre identificar tempranamente casos de TEA el desaf&iacute;o ser&aacute; dise&ntilde;ar y poner a prueba programas de intervenci&oacute;n temprana en Colombia que favorezcan el desarrollo de ni&ntilde;os y ni&ntilde;as con TEA, y garanticen un mejor pron&oacute;stico. La identificaci&oacute;n temprana de cualquier alteraci&oacute;n en el neurodesarrollo facilita una intervenci&oacute;n oportuna, lo que repercute en la calidad de vida del afectado y su familia.</p>      <p><b>Conflicto de intereses</b>    ]]></body>
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