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Revista chilena de neuro-psiquiatría

versión On-line ISSN 0717-9227


FERNANDEZ L, Mª Paz; PUENTE F, Aníbal  y  FERRANDO L, Mª Teresa. Fragile X syndrome: Development and intervention of written language. Rev. chil. neuro-psiquiatr. [online]. 2010, vol.48, n.3, pp.219-231. ISSN 0717-9227.

Introduction: The article aims to provide an up-to-date review of the difficulties children and adolescents with fragile X disorders have in school. Fragile X syndrome (FXS) is the most frequent cause of hereditary intellectual disability, as well as being a common cause of learning disorders and behavioural problems. It is characterised by very specific physical and behavioural phenotypes. FXS is caused by a mutation in the FMR1 gene (Fragile X Mental Retardation) located at the bottom end of the X chromosome atXq27.3. This gene mutation produces an expansion in the number of CGG (Cytosine, Guanine, Guanine) triplet repetitions. The full mutation causes a state ofhypermethylation that inhibits gene expression. Analysis of fragile X syndrome represents a good model for determining the relationship between genes and behaviour. Development: There are many grey areas in the area of reading and writing in the fragile X population. Very few basic and applied research studies are available and they mostly assume behavioural patterns derived from comparable populations such as Down syndrome, Autism, and Williams syndrome. Conclusion: The main problems FXS children have with reading and writing stem from language and motor disorders and difficulties with sensorial integration. Our work aims to broaden and to systemize some of the aspects which we consider key to improving educational practice and to overcome reading deficiencies. In this direction, we highlight some programmatic proposals and methodological strategies which should be explored for their educational value and practical effectiveness.

Palabras clave : Fragile X syndrome; reading; writing; strategies; learning; teaching; intellectual disability.

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