La detección precoz de Trastornos del Espectro Autista (TEA). El programa de cribado con M-CHAT en España y revisión de otros programas en Europa.

García Primo, P.

Tesis Doctoral. Universidad de Salamanca.2014.

Los Trastornos del Espectro Autista (TEA) constituyen un conjunto de alteraciones graves del desarrollo neurológico que se caracterizan por la coocurrencia de dificultades en la interacción social y en la comunicación y por patrones restringidos y repetitivos de comportamiento, siendo una de las discapacidades del desarrollo más frecuentes en la infancia temprana.

El trabajo aquí presentado es una compilación de cuatro publicaciones (un capítulo de libro en español y 3 artículos, 2 de ellos publicados en revistas científicas internacionales en inglés y un artículo en español, publicado en una revista española). Todas y cada una de estas publicaciones están dirigidas, al avance del conocimiento y la puesta en práctica de de estrategias de cribado de TEA en edades tempranas, con el propósito de repercutir positivamente en el pronóstico de estos niños y en el mejor ajuste y calidad de vida de ellos y de sus familias. Los objetivos específicos  fueron alcanzados a través de cada uno de los estudios que forman parte de esta tesis y que son: 1) Desarrollar el proceso de traducción, adaptación cultural, análisis de validez y fiabilidad del cuestionario M-CHAT en España, 2) Pilotar y evaluar el funcionamiento y la estructura de un  programa de cribado con la versión validada en español del M-CHAT  a todos sus niveles (viabilidad, costes, nivel de participación...) dentro del Sistema Público de Salud en España y 3) Revisar y analizar de forma comparativa los diferentes procedimientos  utilizados en los estudios de cribado de autismo en Europa y describir su situación actual, así como identificar los posibles factores y aspectos metodológicos que se necesitan tener en cuenta para la interpretación de resultados en los estudios de cribado del autismo.  Se espera que los resultados de esta tesis sean especialmente útiles en lugares donde todavía no se ha puesto en marcha ningún programa de detección precoz del autismo, facilitando la toma de decisiones sobre qué herramienta puede funcionar mejor según las características del contexto.

Screening for Autism Spectrum Disorder in Young Children: A Systematic Evidence Review for the U.S. Preventive Services Task Force.

McPheeters M, PhD,Weitlauf A,  Vehorn A,  Taylor C,  Sathe NA,  Shanthi Krishnaswami M, Fonnesbeck C,  Warren ZE.
AHRQ Publication No. 13-05185-EF-1 February 2016

Context: The Centers for Disease Control and Prevention estimates that 1 in 68 children has an autism spectrum disorder (ASD) and the majority of children are not diagnosed until after 4 years of age. Current approaches rely on developmental surveillance, general developmental screening, and/or parental concerns. Systematic screening has been advocated for identifying ASD at earlier ages.

Objective: We systematically reviewed the evidence about benefits and harms of routine screening for ASD in primary care settings.
Methods: We explicitly focused on studies of screening instruments for use in young (≤36 months of age), unselected populations (e.g., universal screening approaches).

Results: We identified 17 unique screening studies reported in 22 papers. The most commonly studied tool was the Modified Checklist for Autism in Toddlers (M-CHAT), including the most recently available variant (M-CHAT-Revised with Followup [M-CHAT-R/F]), which has a positive predictive value of 48 percent in diverse populations of children ages 16 to 30 months. Forty-two studies of good and fair quality addressed interventions for young children. Among these, 17 involved direct provision of intervention to children. Fifteen of these 17 studies assessed cognitive outcomes, and outcomes were significantly more improved in the treatment versus comparison arm in 10 studies. Sixteen of these 17 studies assessed language outcomes, and outcomes were significantly improved in the treatment versus comparison group in 10 studies. Thirteen studies involved parent training. Five of these 13 studies addressed cognitive outcomes, and outcomes were significantly improved in the treatment versus comparison group in one study. Twelve of the 13 studies addressed language outcomes, and outcomes were significantly improved in the treatment versus comparison group in three studies. Thus, 20 studies overall measured cognitive outcomes and 11 reported greater benefit for the intervention group compared to the control group, and language outcomes were significantly improved in treatment versus comparison arms in 13 of 28 studies assessing language. Twelve studies focused on play and interaction and typically measured joint attention as the outcome. Nine out of 10 studies evaluating joint attention outcomes reported greater benefit in the treatment arm compared to the control arm. None of the studies focused on screen-detected children.

Conclusions: Both the M-CHAT and the M-CHAT-R/F, when including the followup interview procedure, have a positive predictive value of around 50 percent in community practices for children between 16 and 30 months of age. Screening tools are widely available. Multiple treatments are available to young children with ASD. Early intensive interventions demonstrate statistically significant improvements in cognitive and language outcomes in children compared to eclectic treatments obtained in the community or other comparison groups, although the studies are generally small, and, within the studies, some children benefit while others do not. We found no studies that directly compared long-term outcomes of screened versus non screened children. More research is needed to determine the benefits and harms of screening the general population.

Early Screening of Autism Spectrum Disorder: Recommendations for Practice and Research.

Zwaigenbaum L, Bauman ML, Fein D, Pierce K, Buie T, Davis PA, Newschaffer C, Robins DL, Wetherby A, Choueiri R, Kasari C, Stone WL, Yirmiya N, Estes A, Hansen RL, McPartland JC, Natowicz MR, Carter A, Granpeesheh D, Mailloux Z, Smith Roley S, Wagner S.

Pediatrics. 2015 Oct;136 Suppl 1:S41-59. doi: 10.1542/peds.2014-3667D.

Abstract:

This article reviews current evidence for autism spectrum disorder (ASD) screening based on peer-reviewed articles published to December 2013. Screening provides a standardized process to ensure that children are systematically monitored for early signs of ASD to promote earlier diagnosis. The current review indicates that screening in children aged 18 to 24 months can assist in early detection, consistent with current American Academy of Pediatrics' recommendations. We identify ASD-specific and broadband screening tools that have been evaluated in large community samples which show particular promise in terms  of accurate classification and clinical utility. We also suggest strategies to help overcome challenges to implementing ASD screening in community practice, as  well as priorities for future research.

Large-Scale Use of the Modified Checklist for Autism in Low-Risk Toddlers

1. Colby Chlebowski, PhD^a, 
2. Diana L. Robins, PhD^b, 
3. Marianne L. Barton, PhD^c, and 
4. Deborah Fein, PhD^c,^d

1. ^aDepartment of Psychiatry, University of California, San Diego, San Diego, California;
2. ^bDepartment of Psychology, Georgia State University, Atlanta, Georgia;
3. ^cDepartments of Psychology and
4. ^dPediatrics, University of Connecticut, Storrs, Connecticut

ABSTRACT

OBJECTIVE: The purpose of the study was to examine use of the Modified Checklist for Autism in Toddlers (M-CHAT) as an autism-specific screening instrument in a large, geographically diverse pediatrics-based sample.

METHODS: The M-CHAT and the M-CHAT Follow-Up (M-CHAT/F) were used to screen 18 989 toddlers at pediatric well-child visits in 2 US geographic regions. Pediatricians directly referred children to ascertain potential missed screening cases. Screen-positive children received the M-CHAT/F; children who continued to screen positive after the M-CHAT/F received a diagnostic evaluation.

RESULTS: Results indicated that 54% of children who screened positive on the M-CHAT and M-CHAT/F presented with an autism spectrum disorder (ASD), and 98% presented with clinically significant developmental concerns warranting intervention. An M-CHAT total score cutoff of ≥3 identifies nearly all screen-positive cases, and for ease of scoring the use of only the M-CHAT total score cutoff is recommended. An M-CHAT total score of 7 serves as an appropriate clinical cutoff, and providers can bypass the M-CHAT/F and refer immediately to evaluation and intervention if a child obtains a score of ≥7.

CONCLUSIONS: This study provides empirical support for the utility of population screening for ASD with the use of the M-CHAT in a primary care setting. Results suggest that the M-CHAT continues to be an effective screening instrument for ASD when the 2-step screening process is used. The M-CHAT is widely used at pediatric offices, and this study provides updated results to facilitate use and scoring of the M-CHAT by clinical providers.

http://pediatrics.aappublications.org/content/131/4/e1121.abstract

Autism. Recognition, referral and diagnosis of children and young people on the autism spectrum.

National Institute for Health and Clinical Excellence (NICE). Autism. Recognition, referral and diagnosis of children and young people on the autism spectrum. London (UK): National Institute for Health and Clinical Excellence (NICE); 2011 Sep. 51 p. (Clinical guideline; no. 128). This guideline covers the recognition, referral and diagnosis of autism in children and young people from birth up to 19 years. 'The term autism describes qualitative differences and impairments in reciprocal social interaction and social communication, combined with restricted interests and rigid and repetitive behaviours. Autism spectrum disorders are diagnosed in children, young people and adults if these behaviours meet the criteria defined in the International Statistical Classification of Diseases and Related Health Problems (ICD-10) and the Diagnostic and Statistical Manual of Mental Disorders DSM-IV Fourth Edition (DSM-IV) and have a significant impact on function. The over-arching category term used in ICD-10 and DSM-IV is pervasive developmental disorder (PDD), a term now used synonymously with autism spectrum disorder (excluding Rett's syndrome); it is a behaviourally defined group of disorders, which is heterogeneous in both cause and manifestation. The guideline development group recognised that individuals and groups prefer a variety of terms, including autism spectrum disorder, autistic spectrum condition, autistic spectrum difference and neuro-diversity. For clarity and consistency, in this guideline the term 'autism' is used throughout, in keeping with the use of 'autism' in recent Department of Health[1], National Audit Office and Public Accounts Committee documents. However in this guideline 'autism' refers to 'autism spectrum disorders'.

Desarrollo infantil y autismo: La búsqueda de marcadores tempranos

Saldaña. D.
Revista de Neuropsicología, neuropsiquiatría y neurociencias. 2011 Abr;11(1):141-15
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Los trastornos del espectro autista constituyen un grupo de alteraciones severas del desarrollo de base genética y neurológica cuyo diagnóstico aún no es sencillo en los primeros meses de vida. Diferentes métodos de investigación han sido empleados para intentar encontrar marcadores comportamentales o cognitivos que permitan su identificación ya en los primeros momentos. Entre los procedimientos utilizados se encuentran los informes familiares retrospectivos, el análisis de videos domésticos o el estudio prospectivo de hermanos de niños con autismo.

Las investigaciones realizadas muestran diferencias conductuales a partir de los 12 meses de edad, aunque no antes, en comportamientos como la atención conjunta, la respuesta al nombre, la comunicación verbal y no-verbal, la exploración atípica de los objetos, el desarrollo motor, algunas conductas repetitivas, diferencias en el temperamento y menor capacidad imitativa. Ahora bien, aún persisten divergencias entre los diferentes estudios incluso en lo relativo al papel de estas conductas y, por otro lado, ningún marcador temprano concreto permite en estos momentos predecir de forma aislada y consistente un diagnóstico posterior de autismo.