ABSTRACT
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.
Subject(s)
Autistic Disorder/diagnosis , Autistic Disorder/genetics , Child , Child, Preschool , Chromosomes, Human, Pair 11/genetics , Chromosomes, Human, Pair 15/genetics , Chromosomes, Human, Pair 16/genetics , Chromosomes, Human, Pair 2/genetics , Chromosomes, Human, Pair 7/genetics , Diagnostic and Statistical Manual of Mental Disorders , Female , Humans , Infant , MaleABSTRACT
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.
Subject(s)
Autistic Disorder/therapy , Child , HumansABSTRACT
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.
Subject(s)
Autistic Disorder , Humans , Autistic Disorder/diagnosis , Interpersonal Relations , Interview, Psychological , Medical History Taking , Medical Records , ParentsABSTRACT
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.
Subject(s)
Child Development Disorders, Pervasive , Research , Child Development Disorders, Pervasive/diagnosis , Child Development Disorders, Pervasive/physiopathology , Ethics, Research , Health Planning Guidelines , Humans , Infant , Practice Guidelines as Topic , Research/economics , Research/standards , SpainABSTRACT
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.
Subject(s)
Autistic Disorder , Early Intervention, Educational , Psychological Tests , Child , Child, Preschool , Humans , Infant , Autistic Disorder/diagnosis , Mass Screening , Practice Patterns, Physicians' , Risk Factors , Sensitivity and Specificity , SpainABSTRACT
INTRODUCTION: Sixty years after the first descriptions of Autism, the same diagnostic criteria based on clinical observation used then are still valid today. Two years ago, the Instituto de Salud Carlos III set up the Grupo de Estudio en los Trastornos del Espectro Autista (Autism Spectrum Disorders Study Group) with the aim of evaluating the current state of research in autism spectrum disorders (ASD) in Spain. This group established collaborative links with different associations and set up a way of working that was more coordinated and closer to the real day-to-day situation experienced by the families involved. AIMS AND DEVELOPMENT: The aim of this review is to update certain areas of knowledge concerning the distribution of the factors that determine ASD, that is to say, about the epidemiology of these disorders. At the same time, it intends to arouse a greater degree of interest among professionals who are more directly involved in the study of pervasive developmental disorders. The latest diagnostic tools offer a higher degree of certainty in the complicated process of evaluating a case with symptoms of autism. Nevertheless, given the effectiveness of early attention and how it affects the prognosis, population-based ASD screening programmes must be implemented. These would have to include the use of Modified Check List for Autism in Toddlers (M-CHAT)-type questionnaires, followed by several levels of diagnosis, in order to reduce the number of false positives while at the same time increasing the true positives.
Subject(s)
Autistic Disorder/epidemiology , Epidemiologic Research DesignABSTRACT
BACKGROUND: The toxic oil syndrome (TOS) is an autoimmune disease caused by the ingestion of aniline-denatured rapeseed oil. The carpal tunnel syndrome (CTS) is an entrapment neuropathy due to the median nerve entrapment, which is associated with both occupational activities and autoimmune diseases. The objective of this work was to know the frequency and characteristics of CTS in TOS patients. PATIENTS AND METHODS: Between December 1977 and July 2000, 744 TOS patients were evaluated. The inclusion criteria were: the clinical records for patients diagnosed between May 1981 and November 1997; and for patients diagnosed between December 1997 and July 2000, symptoms with the classical or likely pattern according to the Katz's hand diagram and one of the following findings: a) abnormal electromyogram, and b) hypalgesia in the median nerve territory and positive Tinel and/or Phalen signs. RESULTS: A total of 70 patients (63 women, 90%) were diagnosed; 48 of them had been diagnosed before 1997 and 22 subsequently. The mean age of patients was 47.6 (20-78) years. In 36 patients (51.4%), a bilateral CTS was present. Fifty-six patients (81.4%) had a diagnostic EMG, and 31 (44.2%) were obese, 13 (18.6%) diabetic, and 4 (6%) had hypothyroidism. Most of these cases (48; 68.6%) were housewives. CONCLUSIONS: TOS patients have a high frequency of CTS; therefore, this condition must be suspected in patients with associated obesity and diabetes mellitus.