Study of the Interaction between Executive Function and Adaptive Behavior at School in Girls with Fragile X Syndrome.

Lorena Joga-Elvira,Jennifer Martinez-Olmo,Carme Brun-Gasca,Carlos Jacas,María-Luisa Joga,Ana Roche-Martínez

doi:10.3390/genes12081108

Abstract

The aim of this research is to analyze the relationship between executive functions and adaptive behavior in girls with Fragile X syndrome (FXS) in the school setting. This study is part of a larger investigation conducted at the Hospital Parc Tauli in Sabadell. The sample consists of a total of 40 girls (26 with FXS and 14 control) aged 7–16 years, who were administered different neuropsychological tests (WISC-V, NEPSY-II, WCST, TOL) and questionnaires answered by teachers (ABAS-II, BRIEF 2, ADHD Rating Scale). The results show that there is a greater interaction between some areas of executive function (cognitive flexibility, auditory attention, and visual abstraction capacity) and certain areas of adaptive behavior (conceptual, practical, social, and total domains) in the FXS group than in the control group. These results suggest that an alteration in the executive functions was affecting the daily functioning of the girls with FXS to a greater extent.

Highlights

Fragile X syndrome (FXS) is the most common cause of sex-linked inherited intellectual disability
It is a genetic condition that occurs as a consequence of amplification of the cytosineguanine-guanine triplet (CGG) triplet of the Fragile X mental retardation gene 1 (FMR1) gene located on Xq27.3 [1,2]
Once the data were analyzed, statistically significant differences were found between the two groups, with the FXS group presenting a stronger relationship between certain executive function (EF) and some adaptive behavior skills

Summary

Introduction

Fragile X syndrome (FXS) is the most common cause of sex-linked inherited intellectual disability. It is a genetic condition that occurs as a consequence of amplification of the CGG triplet of the FMR1 (fragile X mental retardation 1) gene located on Xq27.3 [1,2]. This mutation leads to a total absence or partial reduction of FMRP protein levels, which is essential for neurodevelopment. The clinical phenotype usually presents more severely in males than in females, since in females the unaffected X chromosome can synthesize some amount of FMRP [4] This fact has meant that most of the previous scientific literature has focused on studying the clinical phenotype of males

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