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      Autismo: un acercamiento hacia el diagnóstico y la genética Translated title: Autism: an approach toward its diagnosis and genetics

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          Abstract

          El autismo es un trastorno del desarrollo cerebral ligado a una biología y química anormales en el cerebro, cuyas causas exactas se desconocen y aún resulta difícil en nuestro medio enfocar el diagnóstico de este trastorno. En el presente trabajo se realizó una revisión bibliográfica, la cual aborda la etiología genética y ambiental, se describe la clasificación para realizar el diagnóstico del autismo y se presentan los programas de Educación Especial diseñados para conocer las necesidades especiales de estos niños. El presente trabajo se realizó mediante la búsqueda bibliográfica en bases de datos médicas, por ser este un tema aún poco transitado y conocido por los profesionales de la salud, lo cual va a permitir un diagnóstico certero y oportuno, el seguimiento adecuado y el asesoramiento genético a las familias que presentan algún miembro afectado.

          Translated abstract

          Autism is a developmental disorder associated with an abnormal biology and chemistry in the brain which causes are unknown; it is still difficult to find an approach for the diagnosis of this disorder. A literature review was carried out about the genetic and/or environmental etiology and its classification to reach to the diagnosis of autism; the programs of Special Education were presented which are designed to find out the special needs of these children. This work was done by mens of the review of a bibliographic medical database, as this is an unknown topic by the health professionals it is aimed at making possible an accurate and opportune diagnosis, and an appropriate follow up to provide genetic counseling to families having some of their members affected.

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          Most cited references52

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          Identification and evaluation of children with autism spectrum disorders.

          Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in early recognition of autism spectrum disorders, because they usually are the first point of contact for parents. Parents are now much more aware of the early signs of autism spectrum disorders because of frequent coverage in the media; if their child demonstrates any of the published signs, they will most likely raise their concerns to their child's pediatrician. It is important that pediatricians be able to recognize the signs and symptoms of autism spectrum disorders and have a strategy for assessing them systematically. Pediatricians also must be aware of local resources that can assist in making a definitive diagnosis of, and in managing, autism spectrum disorders. The pediatrician must be familiar with developmental, educational, and community resources as well as medical subspecialty clinics. This clinical report is 1 of 2 documents that replace the original American Academy of Pediatrics policy statement and technical report published in 2001. This report addresses background information, including definition, history, epidemiology, diagnostic criteria, early signs, neuropathologic aspects, and etiologic possibilities in autism spectrum disorders. In addition, this report provides an algorithm to help the pediatrician develop a strategy for early identification of children with autism spectrum disorders. The accompanying clinical report addresses the management of children with autism spectrum disorders and follows this report on page 1162 [available at www.pediatrics.org/cgi/content/full/120/5/1162]. Both clinical reports are complemented by the toolkit titled "Autism: Caring for Children With Autism Spectrum Disorders: A Resource Toolkit for Clinicians," which contains screening and surveillance tools, practical forms, tables, and parent handouts to assist the pediatrician in the identification, evaluation, and management of autism spectrum disorders in children.
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            Searching for ways out of the autism maze: genetic, epigenetic and environmental clues.

            Our understanding of human disorders that affect higher cognitive functions has greatly advanced in recent decades, and over 20 genes associated with non-syndromic mental retardation have been identified during the past 15 years. However, proteins encoded by "cognition genes" have such diverse neurodevelopmental functions that delineating specific pathogenetic pathways still poses a tremendous challenge. In this review, we summarize genetic, epigenetic and environmental contributions to neurodevelopmental alterations that either cause or confer vulnerability to autism, a disease primarily affecting social cognition. Taken together, these results begin to provide a unifying view of complex pathogenetic pathways that are likely to lead to autism spectrum disorders through altered neurite morphology, synaptogenesis and cell migration. This review is part of the INMED/TINS special issue "Nature and nurture in brain development and neurological disorders", based on presentations at the annual INMED/TINS symposium (http://inmednet.com/).
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              A screening questionnaire for Asperger syndrome and other high-functioning autism spectrum disorders in school age children.

              The high-functioning Autism Spectrum Screening Questionnaire (ASSQ) is a 27-item checklist for completion by lay informants when assessing symptoms characteristic of Asperger syndrome and other high-functioning autism spectrum disorders in children and adolescents with normal intelligence or mild mental retardation. Data for parent and teacher ratings in a clinical sample are presented along with various measures of reliability and validity. Optimal cutoff scores were estimated, using Receiver Operating Characteristic analysis. Findings indicate that the ASSQ is a useful brief screening device for the identification of autism spectrum disorders in clinical settings.
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                Author and article information

                Journal
                rpr
                Revista de Ciencias Médicas de Pinar del Río
                Rev Ciencias Médicas
                Editorial Ciencias Médicas (Pinar del Río, , Cuba )
                1561-3194
                February 2015
                : 19
                : 1
                : 157-178
                Affiliations
                [01] Pinar del Río orgnameCentro Provincial de Genética odigen@ 123456princesa.pri.sld.cu
                Article
                S1561-31942015000100019 S1561-3194(15)01900119
                6a635342-9940-4c3a-87db-c8cb62a06bb0

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

                History
                : 04 February 2015
                : 19 January 2015
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 42, Pages: 22
                Product

                SciELO Cuba

                Self URI: Texto completo solamente en formato PDF (ES)
                Categories
                ARTÍCULOS DE REVISIÓN

                Síndrome de Asperger,Autistic disorder,Trastorno autístico,Asperger syndrome

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