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

Winarni, Tri Indah Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome. Hindawi Publisher.

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Abstract

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 romoter 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.

Item Type:Other
Subjects:Q Science > QH Natural history > QH426 Genetics
Divisions:Faculty of Medicine > Department of Medicine
Faculty of Medicine > Department of Medicine
ID Code:73295
Deposited By:Dwinita Fibriani
Deposited On:14 Jun 2019 16:27
Last Modified:14 Jun 2019 16:27

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