Impact of rare diseases in oral health.

BACKGROUND: Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade. MATERIAL AND METHODS: Comparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each rare disease listed on the statistical data record of the Health Portal of the Ministry of Equality, Health and Social Policies Board of Andalusia was associated with "oral health". The variables studied included dental, oral mucosa and occlusion alterations, oral pathologies (caries, periodontal disease) and other alterations (mouth breathing, parafunctional habits, etc). A bias analysis of the variable caries was conducted. RESULTS: Six RD were selected through our inclusion and exclusion criteria (hypogammaglobulinemia, Rett syndrome, Marfan syndrome, Prader-Willi syndrome, cystic fibrosis and Cri du chat syndrome) in a total of 8 publications, of which four trials were classified as high risk of bias and one of them as medium risk. There were not trials with low risk of bias. CONCLUSIONS: The main statistically significant differences found by Syndrome compared to a control group were in Hypogammaglobulinemia with a greater tendency to enamel hypoplasia and dry mouth. The Rett syndrome had, as well, a greater tendency to an anterior open bite, ogival palate, bruxism, mouth breathing and tongue thrusting. Prader-Willi syndrome had a tendency of dental erosion, and Cri du chat syndrome showed a higher association to Tannerella forsythia.

Social/economic costs and health-related quality of life in patients with juvenile idiopathic arthritis in Europe.

OBJECTIVE: The aim of this study was to determine the economic burden from a societal perspective and the health-related quality of life (HRQOL) of patients with juvenile idiopathic arthritis (JIA) in Europe. METHODS: We conducted a cross-sectional study of patients with JIA from Germany, Italy, Spain, France, the United Kingdom, Bulgaria, and Sweden. Data on demographic characteristics, healthcare resource utilization, informal care, labor productivity losses, and HRQOL were collected from the questionnaires completed by patients or their caregivers. HRQOL was measured with the EuroQol 5-domain (EQ-5D-5L) questionnaire. RESULTS: A total of 162 patients (67 Germany, 34 Sweden, 33 Italy, 23 United Kingdom, 4 France, and 1 Bulgaria) completed the questionnaire. Excluding Bulgarian results, due to small sample size, country-specific annual health care costs ranged from €18,913 to €36,396 (reference year: 2012). Estimated direct healthcare costs ranged from €11,068 to €22,138; direct non-healthcare costs ranged from €7837 to €14,155 and labor productivity losses ranged from €0 to €8715. Costs are also shown to differ between children and adults. The mean EQ-5D index score for JIA patients was estimated at between 0.44 and 0.88, and the mean EQ-5D visual analogue scale score was estimated at between 62 and 79. CONCLUSIONS: JIA patients incur considerable societal costs and experience substantial deterioration in HRQOL in some countries. Compared with previous studies, our results show a remarkable increase in annual healthcare costs for JIA patients. Reasons for the increase are the inclusion of non-professional caregiver costs, a wider use of biologics, and longer hospital stays.

Childhood vasculitis hospitalizations in Spain, 1997-2011.

The aim of this study is to describe the childhood vasculitis hospital burden in Spain (1997-2011), considering type of disease, hospitalization rates and time trends. Data were obtained from the National Discharges Basic Minimum Data Set (National Patient Data Base). Inpatient events of children younger than 15 years of age were analyzed. Principal diagnosis of vasculitis were selected according Ninth Revision of the International Classification of Diseases: Takayasu arteritis, Polyarteritis nodosa, Kawasaki disease, Wegener`s granulomatosis, Churg-Strauss syndrome, and Henoch-Schönlein purpura. A total of 14518 children hospitalizations related to vasculitis were identified in Spain from 1997 to 2011. The average hospitalization rate for children was 13.33±1.71 per 100,000. Henoch-Schönlein purpura and Kawasaki disease were the most common type of vasculitis, hospitalization rates were 11.00 and 3.97 per 100,000 children, respectively. Other vasculitis hospitalizations are much rare in childhood. Average length of stay was 6.04 days and estimated cost per inpatient hospital care was 2,847€. Hospital case fatality rate was 0.05% for overall vasculitis. In conclusion, epidemiological data of childhood vasculitis are useful both to health decision-making and to identify research priorities.

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.

EUROPLAN: a project to support the development of national plans on rare diseases in Europe.

BACKGROUND/AIMS: National Plans for Rare Diseases (RDs) are the common denominator of current public health policy concerns on RDs across the EU. With the aim of a better distribution of the available resources, they conjugate the European objective that aims at ensuring that patients with RDs have access to high-quality care - including diagnostics, treatment and rehabilitation - with the national priorities of selecting specific measures for adoption and implementation. METHODS: The European Project for Rare Diseases National Plans Development (EUROPLAN, www.europlanproject.eu) is cofunded by the EU Commission (DG-SANCO) and is coordinated by the Italian National Center for Rare Diseases of the Istituto Superiore di Sanità (ISS). The EUROPLAN goal is to promote the implementation of National Plans or Strategies to tackle RDs and share relevant experiences within countries, linking national efforts, through a common strategy at a European level. In order to fulfill these objectives, EUROPLAN involved health authorities, clinicians, scientists, the European Organisation for Rare Diseases (EURORDIS), and many other patient groups as associated and collaborating partners from several European countries. RESULTS: The project was launched in 2008 and foresaw 2 implementation phases: phase 1 (2008-2011) to build the consensus definition of operational tools (recommendations and indicators), and the ongoing phase 2 (2012-2015), mainly aimed at capacity building with the proactive involvement of multilevel stakeholders. EUROPLAN is facilitating and accelerating the implementation of National Plans in almost all EU and several non-EU Countries. CONCLUSIONS: EUROPLAN is a European and an international process more than a project, and it could be defined as a 'litmus test' demonstrating how the collaboration between institutions and patients' associations can accelerate the process of awareness and development of policies and actions.

Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects.

We aimed to investigate the epidemiological determinants, clinical features, and genetic pattern of FOP in our country by evaluating the entire population of patients identified according to a combination of methods. To achieve this, 24 individuals were confirmed as FOP cases, 17 of whom were alive at the end of 2011 (point prevalence=0.36 × 10(-6)). The gender distribution (male/female ratio=13/11) and the concurrent range of ages (from 4 to 53 years; mean ± SD: 30.2 ± 13.8) are in agreement with similar reports. Twenty-one (87.5%) had characteristic congenital malformations of the big toe, and short thumbs were found in 65.2% of cases. In addition, other skeletal malformations such us fusion of the posterior elements of the cervical spine (89.0%), knee osteochondromas (71%), scoliosis (54.5%), and short and broad femoral neck (52.6%) were observed. All had developed mature ossicles of heterotopic bone in typical anatomic and temporal patterns, ranging in number from 1 to 17 (9.5 ± 3.9). Age at appearance of first ossifying lesion varied from 3 months to 15 years. Mean age at diagnosis was 7.3 ± 5.1 years and the average delay in reaching the correct diagnosis after the onset of heterotopic ossification was 2.7 years (range=0-12 years). Biopsy of the pre-osseous lesions was performed in 11 of 20 (55.0%), providing no useful information for the diagnosis of FOP. Seven of 18 (38.9%) reported some hearing loss, and 5 (27.8%) experienced diffuse thinning of the hair or were bald. No patient had relatives with a typical FOP clinical picture. Fourteen of the 16 cases which were genetically investigated displayed the single heterozygous mutation c.617G>A in exon 4 of the ACVR1 gene. One of the two patients who did not present with the canonical ACVR1 mutation showed a heterozygous mutation c.774G>C in exon 5 leading to the substitution of Arginine 258 with a serine. The other patient had a heterozygous c.774G>T substitution in exon 5 leading to the same amino acid change (p.Arg258Ser). These two patients had only nonspecific abnormalities of the great toe, lacked the typical anatomic and developmental pattern of heterotopic ossification, and shared a trend toward uncommon clinical features. These results provide new insight on the epidemiological and clinical traits of FOP, reinforcing the notion of its worldwide homogeneity. The molecular characterization of ACVR1 sequence variation will contribute to the understanding of the genetic profile of this devastating disease in different geographical areas.

Further evidence supporting a genetic background for Paget's disease of bone in Spain.

The aim of this paper is to investigate heritable factors that might be related to the recognised genetic susceptibility for developing Paget's disease of bone (PD). This was a hospital-based, case-control study of a systematically selected group of PD patients and a group of controls drawn from the same health setting. In these populations we assessed surname pattern, parental consanguinity and constitutional physical traits. In a separate case-control analysis, genetically-based features and pathological traits of interest for genetic inference in 43 demonstrated familial cases were then compared to those in 24 sporadic cases. Results showed coincidence of three or four surnames (Odds Ratio [OR] = 5.6; 95% CI = 1.7-18.5), degree of parental consanguinity (OR = 4.1; 95% CI = 2.1-1.8), and green or blue eye colour (OR = 1.5; 95% CI = 1.1-2.1) were significantly associated with PD. Comparison of proven familial and sporadic PD cases showed that the former had a stronger association with Monckeberg-type vascular calcifications (32% vs. 4%; p = 0.02), percentage of skeleton affected (13.1 vs. 9.0), and green and blue eye colour (82% vs. 25%; p = 0.006), with Monckeberg-type vascular calcifications being the main variable of interest (OR = 30.9; 95% CI = 12.75-347.00) in the multivariate analysis. In conclusion, heritable factors are crucial in the pathogenesis of PD and, in line with other data sources, might account for the ethnic predisposition observed in different countries.

Public health research on rare diseases.

Despite the low prevalence of Rare Diseases (RD), over 30 million EU citizens suffer from these conditions. This paper summarizes some aspects of these life-threatening chronic and debilitating diseases that usually require long term specialist care and costly formal and informal surveillance. Epidemiology does have an important role to play in the field of RD, since it provides appropriate methods and tools for assessing exposures and health outcomes. In this regard, the utility of registries, biobanks and population-based surveillance systems are discussed. The lack of effective diagnoses and treatments in RD patients often underlies their shortened life expectancy and quality of life. Due to the limited number of patients and the scarcity of relevant knowledge and expertise, coordination at European level is probably the best way of pooling the very limited resources available and provides a very high added-value. RD require the combined efforts of health and social care professionals, politicians, managers and researchers to increase the availability of effective disease management tools to improve care and to extend both life expectancy and Health Related Quality of Life.

Trastornos del espectro autista. Detección precoz, herramientas de cribado / Autistic spectrum disorders. Early detection, screening tools

El término trastornos del espectro autista (TEA) agrupa cinco cuadros clínicos según el DSM-IV-TR, ocho si seguimos la Clasificación CIE-10 de la Organización Mundial de la Salud. Todos ellos se caracterizan por dificultades cualitativas de interacción social, con falta de empatía y reciprocidad social, incapacidad para reconocer y responder a gestos y expresiones, dificultades en la comunicación y falta de flexibilidad en razonamientos y comportamientos, con un repertorio restringido, estereotipado y repetitivo de actividades e intereses. Se trata de un trastorno prevalente, que predomina en varones y cuyos síntomas por lo general son evidentes entre los 18 y los 24 meses de edad; pese a ello es habitual que ocurra retraso en el diagnóstico. Desde Atención Primaria se ha de promover una intervención precoz mediante la vigilancia longitudinal del DPM, la realización de cribado sistemático entre los 18-24 meses de edad (M-CHAT) y considerando especialmente las preocupaciones expresadas por los padres como importante signo de alarma. El diagnóstico definitivo será llevado a cabo por un equipo multidisciplinar experto en los TEA que emplearán herramientas diagnósticas más específicas como ADI-R y ADOS. Existe evidencia de que las intervenciones son más efectivas cuando se inician precozmente, entre los 2 y los 4 años de edad. Además de lo anterior se han de atender los problemas médicos asociados, conocer las intervenciones farmacológicas y no farmacológicas para los comportamientos problemáticos y ofrecer formación y apoyo a las familias, las cuales han de conocer la existencia de terapias controvertidas, no sustentadas en evidencias científicas, a fin de que actúen con cautela frente a las mismas (AU)

The term, autistic spectrum disorder (ASD) groups 5 clinical conditions according to the DSM-IV-TR, eight if we follow the ICD-10 Classification of the World Health Organisation. All of them are characterised by qualitative social interaction difficulties, with lack of empathy and social reciprocity, inability to recognise and respond to gestures or expressions, communication difficulties, lack of flexibility in reasoning and behaviour, with a restricted, stereotyped and repetitive activities and interests. It is a prevalent disorder, which predominates in males and the symptoms are generally evident between 18 and 24 months of age, this being a reason for the delay in diagnosis. An early intervention program must be introduced to monitor PSD over the longterm, performing systematic screening between 18-24 months of age ( M-CHAT) and in particular, taking into account the concerns expressed by the parents as an important sign of alarm. The definitive diagnosis will be made by a multidisciplinary team expert in ASD, who will use more specific diagnostic tools like ADI-R and ADOS. There is evidence that interventions are more effective when started early, between 2 and 4 years of age. As well as all this, the associated medical problems have to be attended to. We must know the pharmacological and non-pharmacological interventions for problematic behaviours, and offer training and support ,to the families, who should be aware of controversial treatments, not supported by scientific evidence, so that they may act with caution with those (AU)

Patient involvement in health research: a contribution to a systematic review on the effectiveness of treatments for degenerative ataxias.

This study aims to incorporate patients' perspective in the design of a systematic review of scientific literature on the effectiveness of degenerative ataxias (DA) treatments. 53 patients with DA from different regions of Spain were consulted using the Delphi method, with three rounds via e-mail. In the first round, obtained information was on treatments used and relevant self-perceived health problems related to DA. The following two rounds were used to prioritize and achieve a consensus on the answers. The participation rate was 100% for all rounds. The most relevant self-perceived health problems were limitations in activities of daily living (ADL), visual and auditory problems and diminished self-esteem. The bibliographic search for the systematic review was enriched by these patient contributions. No study offered information on treatment effectiveness for the following problems prioritized by patients: ADL, social relationships, disease acceptance and quality of life. Thus some of the self-perceived DA-related health problems identified by the patients have never been investigated and should be considered to improve future research projects which should be adapted to meet patients' needs. Effective participation of patients can extend the value of systematic reviews to ensure they respond to both clinicians' information needs and patients' expectations.

[Rare diseases. Concept, epidemiology and state of the question in Spain]. / Enfermedades raras. Concepto, epidemiología y situación actual en España.

Rare diseases are those whose prevalence is below 5 cases per 10,000 inhabitants in the European Community. Most cases are diagnosed during paediatric age due to their genetic origin, while some others are congenital malformations. Nevertheless, a higher prevalence is seen during adulthood as most of the former diseases are very severe and patients die during childhood. At the same time, higher survival rates are related to some chronic rare diseases in adults. The Spanish Network of Research Epidemiology for Rare Diseases (REpIER) developed the first atlas showing the geographical distribution of rare diseases in Spain, assessed the Spanish rare disease registries, contributed to the further development of regional plans on rare diseases, as well as to social and health actions, and established the real group of needs to be solved. These have been included in the Communication of the European Commission on Rare Diseases as well as in the Spanish Senate Presentation.

Autism, the big unkown.

Autism is a common disorder of childhood. Yet, it often remains unrecognized and undiagnosed until or after late preschool age because appropriate tools for routine developmental screening and screening specifically for autism have not been available. Paediatricians have an important role in early recognition and evaluation of autism spectrum disorders because they usually are the first point of contact for parents. It is important that paediatricians are able to recognize the signs and symptoms of autism spectrum disorders and have a strategy for assessing them systematically. But paediatricians have also a role in chronic management of these disorders. The objective of this paper is to show a general view of the autism spectrum disorders (ASD) state of knowledge nowadays as well to stress the need of early detection and treatment of these disorders in order to improve better evolution and prognosis.

[Huntington's disease mortality in Spain in the period 1981-2004]. / Mortalidad por la enfermedad de Huntington en Espana en el periodo 1981-2004.

INTRODUCTION: Huntington's disease (HD) is an autosomic dominant neurodegenerative disease characterized by neuromuscular, cognitive and psychiatric symptoms. AIM: To analyze the mortality trend for HD from 1981-2004 in Spain. PATIENTS AND METHODS: Both crude and specific rates adjusted to the European population were used to show the evolution of mortality. Rates are showed by age and gender per million of inhabitants. Joinpoint regression model was used to analyze mortality trends. RESULTS: 866 deaths under HD codes were recorded in Spain during the study period (452 males and 414 females). Adjusted rates ranged from 0.64 in 1981 to 1.65 in 2004 in males and from 0.40 in 1981 to 1.16 in 2004 in females. The trend of the mortality rates in both genders followed a slight and steady increase during the whole period and dramatic changes were not detected. The average yearly percentage of this increase was 3.76% in males and 3.67% in females. CONCLUSIONS: The study has showed a yearly age adjusted mortality rates increase close to 4%. No differences have been seen between males and females. The follow up of this trend should be monitored to test if it stabilizes or it rises.

Mortalidad por la enfermedad de Huntington en España en el período 1981-2004 / Huntington´s disease mortality in Spain in the period 1981-2004

Introducción. La enfermedad de Huntington (EH) es una enfermedad neurodegenerativa hereditaria autosómica dominante, caracterizada por síntomas motores, cognitivos y psiquiátricos. Objetivo. Analizar las tendencias en la mortalidad por EH en España en el período 1981 a 2004. Pacientes y métodos. Los datos de mortalidad proceden del Instituto Nacional de Estadística, código 333.4 de la CIE-9 para el período 1981 a 1998, y código G10 de la CIE-10 desde 1999. Se han calculado tasas brutas, tasas específicas por edad y tasas ajustadas según la población europea, según el método directo y expresadas por millón de habitantes. Para analizar la tendencia en las tasas de mortalidad se han empleado modelos de regresión de joinpoint. Resultados. En el período estudiado fallecieron 866 personas (452 varones y 414 mujeres) en España por EH. Las tasas ajustadas por millón de habitantes fueron de 0,64 (en 1981) y 1,65 (en 2004) en varones, y de 0,40 (en 1981) y 1,16 (en 2004) en mujeres. La evolución de las tasas de mortalidad ajustadas por edad ha sido monótonamente creciente, sin que se hayan identificado puntos de cambio en la tendencia. En promedio, el crecimiento estimado mediante el porcentaje anual de cambio ha sido de 3,76% en varones y de 3,67% en mujeres. Conclusiones. El estudio ha mostrado un incremento cercano al 4% anual en las tasas de mortalidad ajustadas por edad, similar en varones y en mujeres. Queda por evaluar si la tendencia creciente encontrada se mantiene en el futuro o si se estabiliza en las cifras de los últimos años

Introduction. Huntington’s disease (HD) is an autosomic dominant neurodegenerative disease characterized by neuromuscular, cognitive and psychiatric symptoms. Aim. To analyze the mortality trend for HD from 1981-2004 in Spain. Patients and methods. Both crude and specific rates adjusted to the European population were used to show the evolution of mortality. Rates are showed by age and gender per million of inhabitants. Joinpoint regression model was used to analyze mortality trends. Results. 866 deaths under HD codes were recorded in Spain during the study period (452 males and 414 females). Adjusted rates ranged from 0.64 in 1981 to 1.65 in 2004 in males and from 0.40 in 1981 to 1.16 in 2004 in females. The trend of the mortality rates in both genders followed a slight and steady increase during the whole period and dramatic changes were not detected. The average yearly percentage of this increase was 3.76% in males and 3.67% in females. Conclusions. The study has showed a yearly age adjusted mortality rates increase close to 4%. No differences have been seen between males and females. The follow up of this trend should be monitored to test if it stabilizes or it rises

[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.

[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 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.