[Autism spectrum disorder and prematurity: towards a prospective screening program]. / Trastorno del espectro autista y prematuridad: hacia un programa de cribado prospectivo.

INTRODUCTION: The prevalence of autism spectrum disorders (ASD) reported in current studies in risk groups such as preterm or low birth weight infants is higher than in the normal population. This fact has led to the increase in recent years of screening studies that investigate possible risk factors for ASD in preterm newborns and their developmental trajectory. AIM: To present the results of the main screening studies of preterm newborns in order to propose screening recommendations for this population at risk. DEVELOPMENT: The results of the studies presented suggest the possibility that the trajectory of socio-communicative and behavioral development of preterm infants differed from what was expected if their birth had occurred at term. This supports the fact that screening programs are carried out based on developmental surveillance and that it is advisable to use screening tools adapted to this population at risk. CONCLUSION: Premature children are a risk group that shows differential characteristics for the screening of ASD.

TITLE: Trastorno del espectro autista y prematuridad: hacia un programa de cribado prospectivo.Introduccion. La prevalencia de trastornos del espectro autista (TEA) comunicada en estudios actuales en grupos de riesgo como son los recien nacidos pretermino o con bajo peso al nacer, es mas alta que en la poblacion normal. Este hecho ha supuesto el incremento en los ultimos años de estudios de cribado que investigan posibles factores de riesgo de TEA en los recien nacidos pretermino y su trayectoria evolutiva. Objetivo. Exponer los resultados de los principales estudios de cribado de recien nacidos pretermino a fin de presentar recomendaciones de cribado en esta poblacion de riesgo. Desarrollo. Los resultados de los estudios presentados sugieren la posibilidad de que la trayectoria del desarrollo sociocomunicativo y conductual de los recien nacidos pretermino difiera de lo esperado si su nacimiento se hubiera producido a termino, lo que apoya el hecho de que se realicen programas de cribado basados en una monitorizacion evolutiva del desarrollo y se utilicen herramientas de cribado adaptadas a esta poblacion de riesgo. Conclusion. Los menores prematuros son un grupo de riesgo que muestra caracteristicas diferenciales para el cribado de TEA.

Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder.

Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and repetitive behaviours were lower in females than males, alongside comparable levels of social interaction and communication difficulties in females and males. Current ADI-R and ADOS scores showed no sex differences for ASD severity. There were lower socio-communicative symptoms in older compared to younger individuals. This large European ASD sample adds to the literature on sex and age variations of ASD symptomatology.

[Early detection and stability of diagnosis in autism spectrum disorders]. / Deteccion precoz y estabilidad en el diagnostico en los trastornos del espectro autista.

INTRODUCTION: Early intervention for children with an autism spectrum disorder (ASD) depends on early and reliable detection. In general, diagnosis is stable, but evidence shows the need to go deeper into the factors that influence this stability. PATIENTS AND METHODS: A sample of 142 children with ASD (118 boys and 24 girls) with a median of 33 months of age and an interquartile range of 12 in the first evaluation. In the follow-up the median was 47 months and an interquartile range of 29. The following tests were applied to evaluate the children: Merrill-Palmer Scale-R, Leitter-R, WIPPSI-III, WISC-R and WISC-IV; as well as Vineland Scale and ADOS-G, based on clinical diagnosis to DSM-IV-R and DSM-5. For the evaluation of the diagnostic stability, contingency tables were performed for diagnostic assessments based on clinical judgment and the results of the ADOS-G. Repeated measures ANOVA was used to analyze the differences between measures of cognitive functioning, adaptive behavior and diagnosis. RESULTS: The clinical diagnosis based on DSM-IV-TR, DSM-5 and clinical judgment remains stable over time in 96% of cases. If the diagnostic stability is measured based on the results of ADOS-G (n = 30), 87% of cases diagnosed maintained the diagnosis. The ANOVA showed statistically significant differences for measures of within-subject factors and global social age, but not for diagnosis. CONCLUSION: The diagnostic stability can be improved by utilizing clinical judgment and the participation of a multidisciplinary team.

TITLE: Deteccion precoz y estabilidad en el diagnostico en los trastornos del espectro autista.Introduccion. La intervencion temprana en los niños con un trastorno del espectro autista (TEA) depende de una deteccion precoz y fiable. Aunque de manera general se habla de un diagnostico estable, se ha evidenciado la necesidad de profundizar mas en los factores que influyen en dicha estabilidad. Pacientes y metodos. Los participantes de la muestra fueron 142 menores con TEA (118 varones y 24 mujeres), con una mediana de 33 meses y un recorrido intercuartilico de 12 en la primera evaluacion, y con una mediana de 47 meses y un recorrido intercuartilico de 29 en el seguimiento. Los diagnosticos se realizaron con las siguientes pruebas: escala Merrill-Palmer revisada, escala de Leiter revisada, escala de inteligencia de Wechsler para preescolar y primaria III y escala de inteligencia de Wechsler para niños revisada y IV; ademas de la escala Vineland y la escala de observacion diagnostica del autismo generica (ADOS-G), basandose el diagnostico clinico en los criterios diagnosticos del Manual diagnostico y estadistico de los trastornos mentales, cuarta edicion, texto revisado (DSM-IV-TR), y quinta edicion (DSM-5). Para la evaluacion de la estabilidad diagnostica, se realizaron tablas de contingencia para las valoraciones del diagnostico en funcion del juicio clinico y los resultados de la ADOS-G. Resultados. El diagnostico clinico basado en los criterios del DSM-IV-TR, el DSM-5 y el juicio clinico se mantiene estable a traves del tiempo en un 96% de los casos. Si se valora la estabilidad diagnostica teniendo en cuenta los resultados del ADOS-G (n = 30), el 87% de los casos mantiene el diagnostico. El ANOVA muestra diferencias estadisticamente significativas para las medidas del factor intrasujeto del cociente intelectual y la edad social global, pero no para el diagnostico. Conclusiones. La estabilidad diagnostica se beneficia de un uso informado del criterio clinico y de la participacion de un equipo multidisciplinar.

Programa de detección precoz de trastornos generalizados del desarrollo en las áreas de salud de Salamanca y Zamora / Pervasive developmental disorders screening program in the health areas of Salamanca and Zamora in Spain

OBJETIVO: Evaluar los resultados obtenidos por el programa de detección precoz de trastornos generalizados del desarrollo (TGD), actualmente en marcha en las áreas de salud de Salamanca y Zamora, en términos de participación y opinión de los profesionales hacia el mismo, así como la validez de la herramienta con la finalidad de extender su uso tanto a nivel autonómico como nacional. MÉTODO: Un total de 54 equipos de pediatría participaron en las sesiones de formación del programa de cribado de TGD en septiembre de 2005 y accedieron a administrar el cuestionario M-CHAT a todos los padres que acudían a sus consultas de pediatría en cualquiera de estas 2 visitas: 18 y/o los 24 meses dentro del Programa del Control del Niño Sano. Hasta diciembre de 2012 han participado un total de 9.524 niños. Adicionalmente, se ha evaluado la participación y opinión de los equipos de pediatría participantes mediante cuestionarios y entrevistas y se han estimado los costes por caso positivo detectado. RESULTADOS: Del total, 852 (8,9%) sujetos resultaron sospechosos de TGD en el cuestionario M-CHAT, de los cuales 61 (7,1%) se confirmaron mediante la entrevista de seguimiento. De estos, 22 obtuvieron un diagnóstico TGD y 31 de otros trastornos de inicio en la infancia según DSM-IV-TR. El 74% de los equipos encuestados consideran el programa totalmente viable y el 22% viable aunque con reservas (n = 54). CONCLUSIONES: Este estudio ha conseguido mostrar por primera vez en España, la viabilidad de realizar un programa de cribado de TGD de base poblacional dentro del sistema público de salud. La formación sobre los problemas del desarrollo comunicativo y social y la difusión de las señales de alerta entre los pediatras, además de la utilización del M-CHAT, es fundamental para el avance en la detección temprana de estos trastornos

OBJECTIVE: To evaluate the results of the Pervasive Developmental Disorders (PDD) screening program currently ongoing in the public health services in the health area of Salamanca and Zamora, Spain, in terms of feasibility, reliability and costs, with the purpose of extending the program at regional and national levels. METHOD: A total of 54 paediatric teams (nurses and paediatricians) from the provinces of Salamanca and Zamora participated in the training sessions for the PDD Screening Programme in September 2005, and agreed to administer the questionnaire M-CHAT1 to all parents attending their clinics in any of these two visits: 18 months and/or 24 months within the Well-baby Checkup Program. A total of 9,524 children have participated up to December 2012. Additionally, we evaluated the participation and opinions of the paediatric teams using questionnaires, and costs per positive case have estimated. RESULTS: Out of a total of 852 (8.9%) children determined as PDD high-risk with the M-CHAT questionnaire results, 61 (7.1%) were confirmed as positive with the M-CHAT follow-up interview. Of these, 22 were diagnosed with a PDD and 31 other disorders of childhood onset according toDSM-IV-TR2. Almost three-quarters (74%) of respondents felt the program was totally feasible, and 22% viable, but with reservations (n=54). CONCLUSIONS: This study has been able to show for the first time in Spain, the feasibility of a population-based PDD screening program within the public health system. Training in social and communicative development, and dissemination of the early signs of PDD among paediatricians, as well as the use of the M-CHAT, is essential for progress in the early detection of these disorders

[Pervasive developmental disorders screening program in the health areas of Salamanca and Zamora in Spain]. / Programa de detección precoz de trastornos generalizados del desarrollo en las áreas de salud de Salamanca y Zamora.

OBJECTIVE: To evaluate the results of the Pervasive Developmental Disorders (PDD) screening program currently ongoing in the public health services in the health area of Salamanca and Zamora, Spain, in terms of feasibility, reliability and costs, with the purpose of extending the program at regional and national levels. METHOD: A total of 54 paediatric teams (nurses and paediatricians) from the provinces of Salamanca and Zamora participated in the training sessions for the PDD Screening Programme in September 2005, and agreed to administer the questionnaire M-CHAT(1) to all parents attending their clinics in any of these two visits: 18 months and/or 24 months within the Well-baby Check-up Program. A total of 9,524 children have participated up to December 2012. Additionally, we evaluated the participation and opinions of the paediatric teams using questionnaires, and costs per positive case have estimated. RESULTS: Out of a total of 852 (8.9%) children determined as PDD high-risk with the M-CHAT questionnaire results, 61 (7.1%) were confirmed as positive with the M-CHAT follow-up interview. Of these, 22 were diagnosed with a PDD and 31 other disorders of childhood onset according to DSM-IV-TR(2). Almost three-quarters (74%) of respondents felt the program was totally feasible, and 22% viable, but with reservations (n=54). CONCLUSIONS: This study has been able to show for the first time in Spain, the feasibility of a population-based PDD screening program within the public health system. Training in social and communicative development, and dissemination of the early signs of PDD among paediatricians, as well as the use of the M-CHAT, is essential for progress in the early detection of these disorders.

Los trastornos del espectro autista. Una perspectiva evolutiva / Autistic spectrum disorders: An evolutive perspective

No disponible

Desarrollo y resultados del programa de cribado de los T.E.A. en las provincias de Salamanca y Zamora / Development and results of the screening program of autistic spectrum disorders in the provinces of Salamanca and Zamora

No disponible

[Good practice guidelines for the treatment of autistic spectrum disorders]. / Guia de buena practica para el tratamiento de los trastornos del espectro autista.

INTRODUCTION: Due to the inexistence of an aetiology-based intervention for autistic spectrum disorders (ASD) families and professionals are exposed to diverse and sometimes conflictive recommendations when they have to decide the most adequate alternative for treatment. AIM: To elaborate treatment guidelines agreed by consensus at the ASD Study Group of the (National) Institute of Health Carlos III. DEVELOPMENT: Information about treatment of ASD was searched and gathered through available evidence based medical (EBM) databases. The data generated was complemented with practice parameters published elsewhere, reports from prestigious international institutions, focus oriented searches in PubMed and, finally, the opinion and experience of a multidisciplinary Study Group with extensive experience in treating ASD in Spain. Most popular treatment methods were reviewed as well as the common elements to be considered in successful support programs. CONCLUSION: No simple treatment algorithm can be produced at this time, and the level of available evidence based recommendations are in the weaker degrees of EBM classifications. Nevertheless, there is widespread agreement to stress that education, with special incidence in the development of communication and social competence, with the addition of community support are the main means of treatment. They can be complemented, depending on individual needs, with medication, behavioural approaches and cognitive-behavioural therapy for associated psychological problems in persons with higher cognitive level. Support to families and community empowerment are essential elements for the quality of life of persons with ASD.

Continuación del embarazo después de un diagnóstico prenatal de síndrome de Down. Estudio de cuatro casos / Continuing pregnancy after a prenatal diagnosis of Down syndrome in Spain. A four-case report

En España las mujeres tienen la posibilidad legal y los dispositivos sanitarios para terminar su embarazo si su feto recibe un diagnóstico prenatal de síndrome de Down. Sin embargo, hasta el momento no se han documentado casos de madres que hayan decidido continuar su embarazo después de haber recibido este tipo de diagnóstico prenatal. De las 6.125 encuestas que se enviaron a madres de niños con síndrome de Down, sólo cuatro informaron de que habían recibido un diagnóstico prenatal del síndrome. Según la información aportada por estas madres, los médicos que las atendieron rara vez comentaron con ellas los aspectos potencialmente positivos de los niños con síndrome de Down y todas expresan estar muy de acuerdo en que los servicios de apoyo prenatal que recibieron fueron claramente insuficientes. En este trabajo se aporta información sobre algunos aspectos que influyen en los procesos de decisión durante las pruebas de diagnóstico prenatal y se sugieren algunos cambios que podrían mejorar los servicios de apoyo prenatal en nuestro país

Women in Spain have incentives —both legal and financial— to terminate fetuses prenatally diagnosed with Down syndrome. However, until now no reports have yet documented the case of mothers who decide to continue their pregnancy after receiving a prenatal diagnosis. Of the 6,125 surveys mailed to mothers who had children with Down syndrome, only four reported that they had received a prenatal diagnosis. According to these mothers, physicians rarely discussed the positive potentials of children with Down syndrome, and all mothers strongly agreed that their prenatal support services were absolutely poor. The decision-making processes during prenatal testing is discussed, and positive changes about the delivery of such services are suggested

[Best practice guidelines for research in autistic spectrum disorders]. / Guía de buena práctica para la investigación de los trastornos del espectro autista.

INTRODUCTION: Achieving a better knowledge of autism and other pervasive developmental disorders known as autistic spectrum disorders (ASD), poses a major scientific challenge. These disorders are some of the earliest and most severe psychopathological disorders in infancy; they include an heterogeneous group of conditions; its prevalence rate seems to be continually increasing and they generate a significant social impact. AIMS AND DEVELOPMENT: Nowadays, there is a current international agreement on the general requirements to be fulfilled by research projects and the priority areas to be considered when developing ASD high quality research. In Spain, although there are some established research groups with broad experience and expertise in these disorders, public funding opportunities and research development are still scarce. For this reason, the Study Group of the Instituto de Salud Carlos III has generated by consensus some Good Practice Guidelines for Research in ASD. CONCLUSIONS: After comparing priorities and recommendations from international reference documents with the results obtained after having carried out an exhaustive bibliographic revision of articles published in autism in the last 30 years by Spanish authors, methodological and ethical recommendations are established. Finally, structural deficiencies to be corrected and emerging research initiatives to be supported are identified.

[Best practice guidelines for the diagnosis of autistic spectrum disorders]. / Guía de buena práctica para el diagnóstico de los trastornos del espectro autista.

INTRODUCTION: The autism spectrum disorder (ASD) diagnostic process requires expertise both in the knowledge of autism as in teamwork strategies with different professionals, often working in different clinic services, and with parents. AIM: To recommend a consensus diagnostic procedure for ASD, that has been designed by the Study Group of the Instituto de Salud Carlos III. DEVELOPMENT: The reports emphasize the need to obtain a complete clinical history, covering personal, family and psychosocial antecedents; detailing the basic areas affected in ASD--social interaction, communication and restricted patterns of behaviour, activities and interests. Diagnostic tests to be used as a routine in all cases are described and analysed--including both psychoeducational and biomedical tests. Also, tests indicated in cases with suspected identifiable physical disorders are covered, as well as those medical tests to be used for research purposes only. CONCLUSION: The diagnostic procedure requires the implementation of a coordinated interdisciplinary assessment strategy, that needs to ensure the participation of professionals from very different fields in active collaboration with the family. Their role culminates in the preparation and delivery of a personalized report. Every diagnostic procedure needs to be accompanied by an action plan that includes immediate support to the person with ASD, as well as information to the family on resources and community initiatives in their living area.

[Best practice guidelines for the early detection of Autistic Spectrum Disorders (I)]. / Guía de buena práctica para la detección temprana de los trastornos del espectro autista (I).

INTRODUCTION: The interest in early detection of Autism Spectrum Disorders (ASD) lies in the accumulated evidence of the fact that an early customized intervention for children with an ASD and their families leads to an improvement of the child's prognosis in most cases. OBJECTIVE: To establish criteria and procedures for early identification of children at risk of ASD and to facilitate full diagnostic assessment and prompt referral leading to adequate support. Early detection of ASD is extremely important, since early specific individualized treatment for the child and his or her family leads to long-term improvement in many children' prognosis. DEVELOPMENT: Firstly, a critical appraisal of the situation of early detection of ASD in Spain is made after reviewing the scarce bibliography available on current screening and diagnostic practices in the country. Data generated by questionnaires received from 646 Spanish families is also taken into account. Secondly, the Study Group of the Instituto de Salud Carlos III recommends the screening and early diagnosis process to be followed, describing the necessary steps, the public services involved and the available screening and diagnostic tools. CONCLUSIONS: The Study Group draws the main conclusions regarding the situation of ASD early detection in Spain, and makes a consensus proposal for the detection procedures, including routine developmental surveillance and identification of children at risk for ASD by using sensitive and specific assessment tools.