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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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/280813 |
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| _version_ | 1849402262981443584 |
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| author | Tri Indah Winarni Andrea Schneider Mariya Borodyanskara Randi J. Hagerman |
| author_facet | Tri Indah Winarni Andrea Schneider Mariya Borodyanskara Randi J. Hagerman |
| author_sort | Tri Indah Winarni |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-8b3dad63d119476ea159e9ecb74535f4 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-8b3dad63d119476ea159e9ecb74535f42025-08-20T03:37:34ZengWileyCase Reports in Genetics2090-65442090-65522012-01-01201210.1155/2012/280813280813Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X SyndromeTri Indah Winarni0Andrea Schneider1Mariya Borodyanskara2Randi J. Hagerman3Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California at Davis Medical Center, Sacramento, CA 95817, USAMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California at Davis Medical Center, Sacramento, CA 95817, USACollege of Osteopathic Medicine, Touro University California, 1310 Johnson Lane, Mare Island, Vallejo, CA 94592, USAMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California at Davis Medical Center, Sacramento, CA 95817, USAFragile 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.http://dx.doi.org/10.1155/2012/280813 |
| spellingShingle | Tri Indah Winarni Andrea Schneider Mariya Borodyanskara Randi J. Hagerman Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome Case Reports in Genetics |
| 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 |
| url | http://dx.doi.org/10.1155/2012/280813 |
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