Síndrome X frágil: Desarrollo e interventión del lenguaje escrito

Fernández L. Ma Paz, Puente F. Aníbal, Ferrando L. Ma Teresa

Resultado de la investigación: Article

2 Citas (Scopus)

Resumen

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 at Xq27.3. This gene mutation produces an expansion in the number of CGG (Cytosine, Guanine, Guanine) triplet repetitions. The full mutation causes a state of hypermethylation 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.

Idioma originalSpanish
Páginas (desde-hasta)219-231
Número de páginas13
PublicaciónRevista Chilena de Neuro-Psiquiatria
Volumen48
N.º3
EstadoPublished - 1 sep 2010

Huella dactilar

Fragile X Syndrome
Language
Reading
Guanine
Intellectual Disability
Mutation
Williams Syndrome
Genes
Language Disorders
Learning Disorders
Cytosine
X Chromosome
Autistic Disorder
Down Syndrome
Population
Phenotype
Gene Expression
Research

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health

Citar esto

Ma Paz, Fernández L. ; Aníbal, Puente F. ; Ma Teresa, Ferrando L. / Síndrome X frágil : Desarrollo e interventión del lenguaje escrito. En: Revista Chilena de Neuro-Psiquiatria. 2010 ; Vol. 48, N.º 3. pp. 219-231.
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Síndrome X frágil : Desarrollo e interventión del lenguaje escrito. / Ma Paz, Fernández L.; Aníbal, Puente F.; Ma Teresa, Ferrando L.

En: Revista Chilena de Neuro-Psiquiatria, Vol. 48, N.º 3, 01.09.2010, p. 219-231.

Resultado de la investigación: Article

TY - JOUR

T1 - Síndrome X frágil

T2 - Desarrollo e interventión del lenguaje escrito

AU - Ma Paz, Fernández L.

AU - Aníbal, Puente F.

AU - Ma Teresa, Ferrando L.

PY - 2010/9/1

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AB - 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 at Xq27.3. This gene mutation produces an expansion in the number of CGG (Cytosine, Guanine, Guanine) triplet repetitions. The full mutation causes a state of hypermethylation 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.

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KW - Strategies

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KW - Writing

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