8
views
0
recommends
+1 Recommend
1 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Una revisión de la genética del autismo Translated title: A overview of the genetics os Autism

      research-article

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          El autismo es un severo trastorno del desarrollo neuropsicológico, caracterizado por una alteración de la comunicación y de la interacción social, y por restringidas, repetitivas y obsesivas pautas de conducta. Afecta más a hombres que a mujeres y, con frecuencia, existe un bajo cociente intelectual. Recientes estimaciones de su prevalencia en California muestran un creciente aumento. Se piensa en posibles causas genéticas y ambientales con un carácter fuertemente hereditario. Existen progresos recientes en lo que respecta al aislamiento de los genes de susceptibilidad, habiéndose confirmado definitivamente los factores de predisposición no ambientales. En la presente revisión se exponen los más recientes hallazgos epidemiológicos, así como los resultados de los actuales estudios sobre la genética del trastorno.

          Translated abstract

          Autism is a severe, neurodevelopmental disorder characterized by impairment in social interaction and communication, and by restricted, repetitive and obsessive patterns of behavior. The disorder affects males more fredquently than females and autistic subjects frequently exhibit reduced I.Q.S. Recent estimates of the prevalence of autism in California show that it is increasing. Investigators are looking into the possible genetic and environmental causes of autism. As the disorder is the most heritable psychiatric illness, investigators are making progress isolating susceptibility genes although no environmental factors predisposing to autism have yet been definitely confirmed. In this review I will discuss recent epidemiological findings and the results of current genetic studies.

          Related collections

          Most cited references75

          • Record: found
          • Abstract: found
          • Article: not found

          A forkhead-domain gene is mutated in a severe speech and language disorder.

          Individuals affected with developmental disorders of speech and language have substantial difficulty acquiring expressive and/or receptive language in the absence of any profound sensory or neurological impairment and despite adequate intelligence and opportunity. Although studies of twins consistently indicate that a significant genetic component is involved, most families segregating speech and language deficits show complex patterns of inheritance, and a gene that predisposes individuals to such disorders has not been identified. We have studied a unique three-generation pedigree, KE, in which a severe speech and language disorder is transmitted as an autosomal-dominant monogenic trait. Our previous work mapped the locus responsible, SPCH1, to a 5.6-cM interval of region 7q31 on chromosome 7 (ref. 5). We also identified an unrelated individual, CS, in whom speech and language impairment is associated with a chromosomal translocation involving the SPCH1 interval. Here we show that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is directly disrupted by the translocation breakpoint in CS. In addition, we identify a point mutation in affected members of the KE family that alters an invariant amino-acid residue in the forkhead domain. Our findings suggest that FOXP2 is involved in the developmental process that culminates in speech and language.
            Bookmark
            • Record: found
            • Abstract: not found
            • Article: not found

            Pervasive developmental disorders in preschool children.

            Prevalence rates of autism-spectrum disorders are uncertain, and speculation that their incidence is increasing continues to cause concern. To estimate the prevalence of pervasive developmental disorders (PDDs) in a geographically defined population of preschool children. Survey conducted July 1998 to June 1999 in Staffordshire, England. The area's 15 500 children aged 2.5 to 6.5 years were screened for developmental problems. Children with symptoms suggestive of a PDD were intensively assessed by a multidisciplinary team, which conducted standardized diagnostic interviews and administered psychometric tests. Prevalence estimates for subtypes of PDDs. A total of 97 children (79.4% male) were confirmed to have a PDD. The prevalence of PDDs was estimated to be 62.6 (95% confidence interval, 50.8-76.3) per 10 000 children. Prevalences were 16.8 per 10 000 for autistic disorder and 45.8 per 10 000 for other PDDs. The mean age at diagnosis was 41 months, and 81% were originally referred by health visitors (nurse specialists). Of the 97 children with a PDD, 25.8% had some degree of mental retardation and 9.3% had an associated medical condition. Our results suggest that rates of PDD are higher than previously reported. Methodological limitations in existing epidemiological investigations preclude interpretation of recent high rates as indicative of increased incidence of these disorders although this hypothesis requires further rigorous testing. Attention is nevertheless drawn to the important needs of a substantial minority of preschool children.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Genetics of autism: complex aetiology for a heterogeneous disorder.

              Since autism was first recognized as a disorder in 1943, speculation about its aetiology has ranged from biological to psychological and back again. After twin studies during the 1970s and 1980s yielded unequivocal evidence for a genetic component, aetiological research in autism began to focus primarily on uncovering the genetic mechanisms involved. The identification of chromosomal abnormalities and Mendelian syndromes among individuals with autism, in conjunction with data from genome screens and candidate-gene studies, has helped to refine the view of the complex genetics that underlies autism spectrum conditions.
                Bookmark

                Author and article information

                Contributors
                Role: ND
                Journal
                neuropsiq
                Revista de la Asociación Española de Neuropsiquiatría
                Rev. Asoc. Esp. Neuropsiq.
                Asociación Española de Neuropsiquiatría (Madrid, Madrid, Spain )
                0211-5735
                2340-2733
                December 2002
                : 0
                : 84
                : 13-24
                Affiliations
                [01] Nueva York orgnameMount Sinaí orgdiv1Facultad de Medicina EE.UU.
                Article
                S0211-57352002000400002
                10.4321/s0211-57352002000400002
                9dbaf851-928f-436a-88a4-20f89e221dad

                This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 International License.

                History
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 42, Pages: 12
                Product

                SciELO Spain


                Autismo,Epidemiología,aumento de prevalencia,estudios genéticos,autism,epidemiology,increased prevalence,genetic studies

                Comments

                Comment on this article