Search

Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/35757227/ There is very little knowledge regarding autistic adult services, practices, and delivery. The study objective was to improve understanding of current services and practices for autistic adults and opportunities for improvement as part of the Autism Spectrum Disorder in the European Union (ASDEU) project. Separate survey versions were created for autistic adults, carers of autistic adults, and professionals in adult services. 2,009 persons responded to the survey and 1,085 (54%) of them completed at least one of the services sections: 469 autistic adults (65% female; 55% 50% responded "don't know"). Five of seven residential services features recommended for autistic adults were experienced by

The prevalence of autism spectrum disorders (ASD) was studied in children in the County of Gipuzkoa (Basque Country, Spain) as part of the European Union’s Autism Spectrum Disorder in Europe project (ASDEU– https://asdeu.eu ). To identify cases in a total community sample of 7- to 9-year-old pupils (N = 14,734), a multistage approach was adopted: in the first stage, a teacher nomination (TN) form was completed by school teachers; and in the second stage, all families with a child nominated by their teachers were invited to complete the Social Communication Questionnaire (SCQ). A total of 108 (59%) schools participated fully, yielding a final sample of 9177 of 14.734 (61.9%) pupils. A total of 212 (2.3%) children were nominated via the TN form, and of these, 105 (49.5%) returned the completed SCQ. Twenty-five (23.8%) cases with SCQ scores ≥ 15 were invited to undergo a free clinical assessment, and 10 (40%) new cases of ASD were identified. The prevalence estimate included the 55 cases already being supported by the Gipuzkoa’s only ASD association, the Gipuzkoa Autism Society (Asociacion Guipuzcoana de Autismo/GAUTENA)), as well as the 10 new subjects identified by the ASDEU field diagnostic process. A sensitivity analysis was performed to estimate new potential ASD cases among the non-participant schools, leading to a final figure of 87 cases of ASD in this age-bracket at the date of the study. This global probabilistic estimate, including non-participating schools, would thus provide a population prevalence of 0.59% (95% CI 0.48–0.73), a result lower than those reported by some other studies. Attrition rates in cross-sectional studies are challenging and support the need for developing longitudinal ASD incidence surveillance study areas (ASD observatories)

Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/33966137/ The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults. This study was funded by the European Parliament and managed by the European Union, DGSANCO, [Ref.: SANCO/2014/C2/035]. The Italian Ministry of Health projects "Osservatorio Italiano per il monitoraggio dei disturbi dello spettro autistico" (Fasc. 1S49) and ‘I disturbi dello spettro autistico: attività previste dal decreto min isteriale del 30.12.2016′ (Fasc. 2S57) granted the contribution of the Italian data. info:eu-repo/semantics/publishedVersion

Satisfaction with the detection process of autism and its determinants was investigated using data from the Autism Spectrum Disorder in the European Union (2015–2018) network. A total of 1342 family members, including 1278 parents, completed an online survey collecting information about their experience and satisfaction with the early detection of autism in their child. Overall, the level of satisfaction varied considerably from one respondent to another. Difficulty in finding information about detection services, lack of professional guidance and support in response to first concerns, finding a diagnostic service on one’s own, and a delay of more than 4 months between the confirmation of concerns and the first appointment with a specialist were all experiences individually associated with greater odds of being less satisfied. Using a dominance analysis approach, we further identified professional guidance and support in response to first concerns as the most important predictor of the level of satisfaction. These findings highlight the aspects of the process that need to be improved to enhance the experience of the detection process and are therefore relevant to guide health administrations toward actions to be implemented to this effect. Lay abstract Professional guidance and support in response to first concerns appears to be an important predictor of the level of satisfaction with the detection process of autism in young children. In this study, we analyzed the views of 1342 family members, including 1278 parents, who completed an online survey form collecting information about their experience and satisfaction with the early detection of autism in their child. Specifically, we were interested in how specific experiences with the detection process relate to the satisfaction with it and whether we could identify important predictors of satisfaction. The detection process is an emotionally charged period for parents, often described as painful, chaotic, and lengthy. A better understanding of their experiences is important to take appropriate action to improve the detection process. In our sample, the level of satisfaction with the detection process varied greatly from one respondent to another. Among the different experiences we considered, whether or not respondents received professional guidance and support in response to first concerns explained most of this variation. We also found that difficulty finding information about detection services, lack of professional guidance and support in response to first concerns, having to find a diagnostic service on one’s own, and longer delays between confirmation of concerns and first appointment with a specialist were experiences associated with a greater likelihood of being unsatisfied. The findings of this study highlight the importance of the parent–professional relationship in the detection process and have important practical implications for health administrations to improve the detection process.

Focused intervention practices (FIPs) are widely used to improve social communication skills, as they are specifically aimed at enhancing skills identified as being problematic in children with autism spectrum disorder ASD, such as imitation, eye contact, gestures, joint attention and play. This meta-analysis was performed to ascertain the overall effectiveness of FIPs in children with ASD 6 years of age and younger. Five electronic searches were conducted, 1828 references were retrieved, and 43 studies 59 outcome measures were included in the meta-analysis. Studies included 785 participants 41.6 months with ASD. The overall socio-communicative effect size for each specific skill imitation, joint attention, and play was calculated using the Hedges’ g (g) for group design studies, and the Nonoverlap of All Pairs (NAP) for single case design studies. Random-effects metaregression models and correlations were also used to assess whether the results were different according to population and intervention characteristics. The impact of possible publication bias was analysed. The results suggest that, whereas FIPs have medium to large positive effects (g = 0.51; NAP = 0.86), those where caregivers or teachers play an active role (g = 0.50; NAP = 0.89) have medium effect sizes. All social and communicative skills outcomes of FIPs have medium effect sizes (Imitation: g = 0.42, NAP = 0.90; Joint attention: g = 0.54, NAP = 0.86; Play: g = 0.47, NAP = 0.81). Effect sizes were greater when participants’ preintervention ages were lower and treatment dosage was higher. When it comes to achieving substantial improvements, factors to be highlighted are the role of caregivers and adaptation of the programme to the characteristics of the child. Implementation of early intervention programmes should be substantiated by a sufficient amount of information about the characteristics of each participant. Professionals should take this information into account in order to select as accurately as possible those procedures that are most effective and feasible.

Research providing an evidence-base for autistic adult services is sparse. The Autism Spectrum Disorders in the European Union (ASDEU) network implemented an on-line survey to determine gaps in autistic adult diagnostic evaluation and postdiagnostic support services. More than 55% in all groups experienced most of the recommended features for diagnostic evaluation for autistic adults. In contrast, < 2% of adults or carers, and < 21% of professionals experienced each of the recommended features for post-diagnostic support. In contrast to 61% of professionals, only about 30% of autistic adults and carers had knowledge of good local services models for autism diagnosis in adulthood. There are major differences between good practice guidelines for diagnostic and post-diagnostic care for autistic adults, and what is actually experienced by services users and professionals. g This study was funded by the European Parliament and managed by the European Union, DGSANCO, [Ref.: SANCO/2014/ C2/035]. The Italian Ministry of Health projects ‘Osservatorio Italiano per il monitoraggio dei disturbi dello spettro autistico’ (Fasc. 1S49) and ‘I disturbi dello spettro autistico: attività previste dal decreto ministeriale del 30.12.2016’ (Fasc. 2S57) granted the contribution of the Italian data. info:eu-repo/semantics/publishedVersion

Correction: J Autism Dev Disord. 2019 Nov 28. doi: 10.1007/s10803-019-04303-7. Online ahead of print. The original version of this article unfortunately contained a mistake in one of the co-author's family name. The correct name should be María Victoria Martín-Cilleros instead of María Victoria Cilleros-Martín. https://link.springer.com/article/10.1007/s10803-019-04303-7 Early services for ASD need to canvas the opinions of both parents and professionals. These opinions are seldom compared in the same research study. This study aims to ascertain the views of families and professionals on early detection, diagnosis and intervention services for young children with ASD. An online survey compiled and analysed data from 2032 respondents across 14 European countries (60.9% were parents; 39.1% professionals). Using an ordinal scale from 1 to 7, parents' opinions were more negative (mean = 4.6; SD 2.2) compared to those of professionals (mean = 4.9; SD 1.5) when reporting satisfaction with services. The results suggest services should take into account child's age, delays in accessing services, and active stakeholders' participation when looking to improve services. This study was funded by the Spanish Ministry of Economy and Competitiveness [Grant PSI2016-80575-R], the European Union, DGSANCO, [Ref.: SANCO/2014/C2/035], and the Spanish Ministry of Education, Culture and Sport [Ref.: BOE-B-2017-2646]. info:eu-repo/semantics/publishedVersion

Over the last several years there has been an increasing focus on early detection of Autism Spectrum Disorder (ASD), not only from the scientific field but also from professional associations and public health systems all across Europe. Not surprisingly, in order to offer better services and quality of life for both children with ASD and their families, different screening procedures and tools have been developed for early assessment and intervention. However, current evidence is needed for healthcare providers and policy makers to be able to implement specific measures and increase autism awareness in European communities. The general aim of this review is to address the latest and most relevant issues related to early detection and treatments. The specific objectives are (1) analyse the impact, describing advantages and drawbacks, of screening procedures based on standardized tests, surveillance programmes, or other observational measures; and (2) provide a European framework of early intervention programmes and practices and what has been learnt from implementing them in public or private settings. This analysis is then discussed and best practices are suggested to help professionals, health systems and policy makers to improve their local procedures or to develop new proposals for early detection and intervention programmes. The authors were supported by a research grant awarded by the Spanish Ministry of Economy and Competitiveness (Grant PSI2016-80575-R) and European Union. DGSANCO. Ref.: SANCO/2014/C2/035. Sí

Background This study addresses the need for a theoretical base to develop more effective early autism spectrum disorders (ASD) detection tools. The structure that underlies early ASD detection is explored by evaluating the opinions of experts on ASD screening tools currently used in Europe. Method A process of face and content validity was performed. First, the best constructs were selected from the relevant tests: Checklist for Early Signs of Developmental Disorders (CESDD), Checklist for Autism in Toddlers (CHAT), Early Screening of Autistic Traits Questionnaire (ESAT), Modified Checklist for Autism in Toddlers (M-CHAT), Social Communication Questionnaire (SCQ) and Communication and Symbolic Behaviour Scales Developmental Profile (CSBS-DP). The diagnostic content validity model by Fehring (1986, 1994) was adapted to make the selection. Afterwards, the items, taken from these tests, were selected to fit into each construct, using the same methodology. Results Twelve of the 18 constructs were selected by the experts and 11 items were chosen from a total of 130, reduced to eight after eliminating tautologies. Conclusions Mapping these constructs and items on to the DSM-5 diagnostic criteria for ASD indicated good face and content validity. Results of this research will contribute to efforts to improve early ASD screening instruments and identify the key behaviours that experts in ASD see as the most relevant for early detection.

Background Autism spectrum disorders (ASDs), once considered to be rare, are now reaching prevalence estimates of 1% and higher. Studies conducted in North America indicate large racial/ethnic disparities in the diagnosis of ASDs. Others show, that immigrant children have similar prevalence rates of ASDs as native children, although they are diagnosed later compared with native children. In relation to a EU funded network action, Enhancing the Scientific Study of Early Autism, it was considered important to review the literature on this subject. Method A comprehensive literature search was undertaken for original articles reporting on prevalence and risk for ASD in Europe among immigrants and ethnic minorities and data across studies were compared. Results Seventeen studies conducted in Europe concerning immigrants and ethnic minorities were found. Fifteen studies suggest a higher prevalence rate of ASDs among children of immigrants in comparison to native children (RR = 1.02-1.74; OR = 0.6-10.5). One study revealed higher prevalence of autism (OR = 2.2; 95% CI 1.6-3.1) and lower prevalence of Asperger syndrome in immigrants (OR = 0.6; 95% CI 0.3-0.97). One study showed a lower prevalence of Asperger syndrome in immigrants (aOR = 0.1, 95% CI 0.01-0.5). The majority of those analyses involved immigrants from outside Europe, e.g. from Africa and South America. Conclusion After analysing the results of studies conducted in Europe, it is unclear if higher prevalence estimates of ASDs among immigrants in this region reflect true differences, especially considering many potential confounding factors, e.g. genetic, biological, environmental and cultural. Considering the number of people migrating within Europe there is a substantial need to study further the prevalence of ASDs in immigrant groups.

Early detection and treatment have been shown to be effective in reducing disability severity caused by Autistic Spectrum Disorders (ASDs). As Spanish pediatricians have no detection tool, the Modified Checklist for Autism in Toddlers (M-CHAT) was first translated into and culturally adapted to Spanish. Validity and reliability studies were carried out in two different geographical areas of Spain, where M-CHAT was administered to two different samples, namely: 2,480 high- and low-risk children; and 2,055 low-risk children. The results obtained were similar to those yielded by the original M-CHAT studies. Differences were found in positive predictive value, due to the low ASD frequency observed in this study. M-CHAT is still being studied in a large population-based screening program in Spain.

Little is known about use of early interventions for autism spectrum disorder in Europe. Parents of children with autism spectrum disorder aged 7 years or younger (N = 1680) were recruited through parent organisations in 18 European countries and completed an online survey about the interventions their child received. There was considerable variation in use of interventions, and in some countries more than 20% of children received no intervention at all. The most frequently reported interventions were speech and language therapy (64%) and behavioural, developmental and relationship-based interventions (55%). In some parts of Europe, use of behavioural, developmental and relationship-based interventions was associated with higher parental educational level and time passed since diagnosis, rather than with child characteristics. These findings highlight the need to monitor use of intervention for children with autism spectrum disorder in Europe in order to contrast inequalities. Funding Agencies|COST Action - European Science Foundation [BM1004]; Innovative Medicines Initiative Joint Undertaking [115300]; European Union; EFPIA

INTRODUCTION. The challenge of early detection can be tackled from an evolutionary perspective. Early intervention treatments have shown themselves to be effective provided that they are applied systematically as part of the strategic planning of the treatment. AIMS. The aim of this study is to provide an updated review in response to the criticism targeted towards early detection and to offer some considerations on the intervention strategy. Our research is based on a review of the early care techniques that are commonly used within the field of autism and it intends to reflect the most significant aspects that can be deduced from the experiments and studies carried out to date. CONCLUSIONS. From the findings of the review it can be concluded that early detection may be more efficient if carried out within the framework of developmental surveillance, which also offers the opportunity to provide guidance on the child's development. Early care is an effective resource for attending to the needs of children with autism. Professionals have the duty to assess the work they do on available treatments with a reflexive, judicious attitude, taking into account the values and preferences of the families. Programmes must focus on the core symptoms and apply the active ingredients of the treatment.De la deteccion precoz a la atencion temprana: estrategias de intervencion a partir del cribado prospectivo.Introduccion. El reto de la deteccion precoz puede realizarse desde una perspectiva evolutiva. Los tratamientos de intervencion temprana han demostrado su eficacia siempre y cuando se apliquen sistematicamente en el marco de una planificacion estrategica del tratamiento. Objetivos. Proporcionar una revision actualizada para responder a las criticas a la deteccion precoz y aportar una reflexion sobre la estrategia de intervencion, basada en la revision de las tecnicas de atencion temprana usuales en el campo del autismo, reflejando los aspectos mas relevantes que se deducen de las experiencias y estudios llevados a cabo hasta el momento. Conclusiones. Tras la revision realizada se concluye que la deteccion precoz puede ser mas eficiente si se lleva a cabo en el marco de la vigilancia del desarrollo, que ademas ofrece la oportunidad de proporcionar orientacion sobre el desarrollo del menor. La atencion temprana constituye un recurso eficaz para atender las necesidades del menor con autismo. Los profesionales tienen la responsabilidad de evaluar el trabajo que hacen con una actitud reflexiva y critica sobre los tratamientos disponibles tomando en consideracion los valores y las preferencias de las familias. Los programas deben centrarse en los sintomas nucleares aplicando ingredientes activos del tratamiento.

Contains fulltext : 154600.pdf (Publisher’s version ) (Open Access) The current study aimed to investigate the Autism Diagnostic Interview-Revised (ADI-R) algorithms for toddlers and young preschoolers (Kim and Lord, J Autism Dev Disord 42(1):82-93, 2012) in a non-US sample from ten sites in nine countries (n = 1,104). The construct validity indicated a good fit of the algorithms. The diagnostic validity was lower, with satisfactorily high specificities but moderate sensitivities. Young children with clinical ASD and lower language ability were largely in the mild-to-moderate or moderate-to-severe concern ranges of the ADI-R, nearly half of the older and phrase speech ASD-group fell into the little-to-no concern range. Although broadly the findings support the toddler algorithms, further work is required to understand why they might have different properties in different samples to further inform research and clinical use.

The need for effective methods of detection and treatment in the early stages of autism spectrum disorders is something that is currently accepted both by professional societies and by the healthcare authorities alike. Up-to-date comprehensive information about the screening procedures and early care techniques for children with autism spectrum disorders would make it easier to implement better detection devices as well as easing the job of counselling families and professionals about care and intervention at early ages in children.This study offers an updated review of the procedures for early detection and early care in autism, while reflecting the most relevant aspects that can be deduced from the experiments and studies conducted to date.The review carried out on trials involving the early detection of autism yields a group of important considerations to be taken into account in carry out critical analyses of screening programmes that are already under way, as well as a set of recommendations for future experiments. The review of the early care programmes provides a promising view because studies on the effectiveness of early care programmes are becoming increasingly more frequent, systematic and methodologically more appropriate.Programas de cribado y atencion temprana en niños con trastornos del espectro autista.Introduccion. La necesidad de la deteccion y de tratamientos eficaces de forma temprana para los trastornos del espectro autista es algo actualmente aceptado tanto por las sociedades profesionales como por la administracion sanitaria. Una informacion actualizada y sintetizada sobre los procedimientos de cribado y las tecnicas de atencion temprana para niños con trastornos del espectro autista facilitara la puesta en marcha de mejores dispositivos de deteccion y la labor de asesoramiento a familias y profesionales sobre la atencion e intervencion a edades tempranas de los niños. Desarrollo. Se proporciona una revision actualizada de los procedimientos de deteccion precoz y de atencion temprana en el autismo, reflejando los aspectos mas relevantes que se deducen de las experiencias y estudios llevados a cabo hasta el momento. Conclusiones. Tras la revision realizada sobre las experiencias de deteccion precoz de autismo, se obtiene un grupo de consideraciones importantes para realizar analisis criticos de programas de cribado en marcha, asi como recomendaciones para experiencias futuras. La revision sobre los programas de atencion temprana proporciona una vision esperanzadora porque cada vez son mas frecuentes, sistematicos y metodologicamente mas apropiados los estudios sobre la eficacia de los programas de atencion temprana.

[ES]Los Trastornos del Espectro Autista (TEA) constituyen un conjunto de alteraciones graves del desarrollo neurologico que se caracterizan por la concurrencia de dificultades en la interaccion social y en la comunicacion y por patrones restringidos y repetitivos de comportamiento, siendo una de las discapacidades del desarrollo mas frecuentes en la infancia temprana. El trabajo aqui presentado es una compilacion de cuatro publicaciones (un capitulo de libro en espanol y 3 articulos, 2 de ellos publicados en revistas cientificas internacionales en ingles y un articulo en espanol, publicado en una revista espanola). Todas y cada una de estas publicaciones estan dirigidas, al avance del conocimiento y la puesta en practica de de estrategias de cribado de TEA en edades tempranas, con el proposito de repercutir positivamente en el pronostico de estos ninos y en el mejor ajuste y calidad de vida de ellos y de sus familias. Los objetivos especificos fueron alcanzados a traves de cada uno de los estudios que forman parte de esta tesis y que son: 1) Desarrollar el proceso de traduccion, adaptacion cultural, analisis de validez y fiabilidad del cuestionario M-CHAT en Espana, 2) Pilotar y evaluar el funcionamiento y la estructura de un programa de cribado con la version validada en espanol del M-CHAT a todos sus niveles (viabilidad, costes, nivel de participacion...) dentro del Sistema Publico de Salud en Espana y 3) Revisar y analizar de forma comparativa los diferentes procedimientos utilizados en los estudios de cribado de autismo en Europa y describir su situacion actual, asi como identificar los posibles factores y aspectos metodologicos que se necesitan tener en cuenta para la interpretacion de resultados en los estudios de cribado del autismo. Se espera que los resultados de esta tesis sean especialmente utiles en lugares donde todavia no se ha puesto en marcha ningun programa de deteccion precoz del autismo, facilitando la toma de decisiones sobre que herramienta puede funcionar mejor segun las caracteristicas del contexto.

[ES] El autismo es un trastorno grave del desarrollo de origen prenatal, que afecta a la persona durante toda su vida. Durante la pasada década numerosas investigaciones han aportado información y experiencia sobre las posibilidades de los sistemas asistenciales para detectar precozmente el autismo. Este movimiento hacia la identificación de signos de sospecha ha llevado a un reconocimiento de que hoy es posible detectar antes los casos, lo que está mejorando el pronóstico del autismo. En el artículo se revisan las ventajas de la detección precoz y la atención temprana, se exponen los signos precoces del autismo y se analizan los instrumentos de mayor interés para la detección precoz en nuestro entorno. El artículo finaliza con una exposición breve sobre el estado actual del progra-ma de cribado en Castilla y León, concluyéndose que la coordinación interprofesional, la sensibilización y la implicación social son aspectos clave para avanzar en la detección precoz del autismo en nuestro país. [EN] Autism is a serious disorder of child growth, stemming from the pre-natal stage and enduring the whole life. During the past decade a lot of studies have provided information about how to detect autism at an early stage. There is a growing acknowledgment that today’s early detection improves autism prognosis. This paper reviews the advantages of early detection and assistance; outlines early autism signs and describes early detection tools. Finally, the paper addresses the screening schedule undertaken in Castille and Leon, concluding that coordination between professionals and social sensitization and involvement are among the key aspects to improve autism detection in our country. Sí

Introduction. The challenge of early detection can be tackled from an evolutionary perspective. Early intervention treatments have shown themselves to be effective provided that they are applied systematically as part of the strategic planning of the treatment. Aims. The aim of this study is to provide an updated review in response to the criticism targeted towards early detection and to offer some considerations on the intervention strategy. Our research is based on a review of the early care techniques that are commonly used within the field of autism and it intends to reflect the most significant aspects that can be deduced from the experiments and studies carried out to date. Conclusions. From the findings of the review it can be concluded that early detection may be more efficient if carried out within the framework of developmental surveillance, which also offers the opportunity to provide guidance on the child’s development. Early care is an effective resource for attending to the needs of children with autism. Professionals have the duty to assess the work they do on available treatments with a reflexive, judicious attitude, taking into account the values and preferences of the families. Programmes must focus on the core symptoms and apply the active ingredients of the treatment.

The Spanish Rare Diseases Registries Research Network (SpainRDR) is a project aimed to build the National Rare Diseases Registry in Spain based on the input of two different methods: patient outcome research registries and population-based registries. The project has been approved within the IRDiRC framework and is co-funded by the Institute of Health Carlos III (ISCIII), the Health Departments of the Autonomous Communities (regions) and the Spanish Ministry of Health, Social Services and Equity (MSSSI) of Spain. The project addresses one of the main recommendations of the National Rare Diseases Strategy and also collaborates with some other RD registering actions like GRDR-NIH, RD-CONNECT and EPIRARE. With the unprecedented collaboration and support of medical societies, researcher networks, patient organizations, pharma industry and health policy makers, SpainRDR is running an effective and necessary way to develop knowledge and raise awareness of the rare diseases burden, which will contribute to design the provision of health and social services as well as the improvement of diagnosis, prognosis, treatment and quality life of patients and families affected by RD. The project is leading by the Institute of Rare Diseases research (IIER, ISCIII) and it is organised in six work packages: WP1 Coordination and Management, WP2 Registering activity related methods, WP3 Data analysis and outcomes research, WP4 Quality Assessment and ELSI issues, WP5 Dissemination and impact, and WP6 Patient registries. A Manual of Procedures including a quality assurance plan, common data elements, coding and classifications criteria, standard operating procedures, ELSI rules, statistical analysis methods and the official website network are actions already carried out or being finalized. Specific CDE have been also consolidated for those patient registries already implemented at the central RDR repository (alpha-1 antitrypsin deficiency, pulmonary histiocytosis, lymphangiomyomatosis, alveolar proteinosis, sarcoidosis, thraqueal stenosis, Sexual Developmental Disorders, Bullous Epidermolysis, ataxias and familiar spastic paraparesis). At the same time, some other patient registries' CDE´s are currently being developed, such as Congenital Suprarenal Hyperplasia and Bradykinin linked angioedema. We are preparing also CDEs for cystinosis and congenital anaemia. After the necessary pilot study developed during 2013, we are now collecting prevalence cases from 2012-2012 and the first preliminary results are already available using specific applications designed by SpainRDR.

Introduccion. La necesidad de la deteccion y de tratamientos eficaces de forma temprana para los trastornos del espectro autista es algo actualmente aceptado tanto por las sociedades profesionales como por la administracion sanitaria. Una informacion actualizada y sintetizada sobre los procedimientos de cribado y las tecnicas de atencion temprana para ninos con trastornos del espectro autista facilitara la puesta en marcha de mejores dispositivos de deteccion y la labor de asesoramiento a familias y profesionales sobre la atencion e intervencion a edades tempranas de los ninos. Desarrollo. Se proporciona una revision actualizada de los procedimientos de deteccion precoz y de atencion temprana en el autismo, reflejando los aspectos mas relevantes que se deducen de las experiencias y estudios llevados a cabo hasta el momento. Conclusiones. Tras la revision realizada sobre las experiencias de deteccion precoz de autismo, se obtiene un grupo de consideraciones importantes para realizar analisis criticos de programas de cribado en marcha, asi como recomendaciones para experiencias futuras. La revision sobre los programas de atencion temprana proporciona una vision esperanzadora porque cada vez son mas frecuentes, sistematicos y metodologicamente mas apropiados los estudios sobre la eficacia de los programas de atencion temprana.