Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing. Lack of FMRP, a critical protein for dendritic spine formation and maturation...

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Autores principales: Winarni, Tri Indah, Schneider, Andrea, Borodyanskara, Mariya, Hagerman, Randi J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447258/
https://www.ncbi.nlm.nih.gov/pubmed/23074686
http://dx.doi.org/10.1155/2012/280813
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author Winarni, Tri Indah
Schneider, Andrea
Borodyanskara, Mariya
Hagerman, Randi J.
author_facet Winarni, Tri Indah
Schneider, Andrea
Borodyanskara, Mariya
Hagerman, Randi J.
author_sort Winarni, Tri Indah
collection PubMed
description Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing. Lack of FMRP, a critical protein for dendritic spine formation and maturation, will cause FXS. Early environmental enrichment combined with pharmacological intervention has been proven to rescue dendritic spine abnormalities in the animal model of FXS. Here we report on 2 young children with FXS who were treated early with a combination of targeted treatment and intensive educational interventions leading to improvement in their cognition and behavior and a normal IQ.
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spelling pubmed-34472582012-10-16 Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome Winarni, Tri Indah Schneider, Andrea Borodyanskara, Mariya Hagerman, Randi J. Case Rep Genet Case Report Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing. Lack of FMRP, a critical protein for dendritic spine formation and maturation, will cause FXS. Early environmental enrichment combined with pharmacological intervention has been proven to rescue dendritic spine abnormalities in the animal model of FXS. Here we report on 2 young children with FXS who were treated early with a combination of targeted treatment and intensive educational interventions leading to improvement in their cognition and behavior and a normal IQ. Hindawi Publishing Corporation 2012 2012-03-26 /pmc/articles/PMC3447258/ /pubmed/23074686 http://dx.doi.org/10.1155/2012/280813 Text en Copyright © 2012 Tri Indah Winarni et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Winarni, Tri Indah
Schneider, Andrea
Borodyanskara, Mariya
Hagerman, Randi J.
Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome
title Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome
title_full Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome
title_fullStr Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome
title_full_unstemmed Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome
title_short Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome
title_sort early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447258/
https://www.ncbi.nlm.nih.gov/pubmed/23074686
http://dx.doi.org/10.1155/2012/280813
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