Biobehavioral Indicators of Social Fear in Young Children With Fragile X Syndrome

Abstract Anxiety is among the most impairing conditions associated with Fragile X syndrome (FXS) and is putatively linked to atypical physiological arousal. However, few studies have examined this association in young children with FXS. The authors examined whether patterns of arousal and behavior during an experimental stranger approach paradigm differ between a cross-sectional sample of 21 young children with FXS and 19 controls (12–58 months old). Groups did not differ in mean levels of behavioral fear. Unlike the control group, however, the FXS group demonstrated increased facial fear at older ages, as well as age-dependent changes in associations between heart activity and distress vocalizations. These findings may inform theoretical models of anxiety etiology in FXS and early detection efforts.

Download Full-text

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

Case Reports in Genetics ◽

10.1155/2012/280813 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 15

Author(s):

Tri Indah Winarni ◽

Andrea Schneider ◽

Mariya Borodyanskara ◽

Randi J. Hagerman

Keyword(s):

Young Children ◽

Fragile X Syndrome ◽

Dendritic Spine ◽

Environmental Enrichment ◽

Fragile X ◽

Educational Interventions ◽

Targeted Treatment ◽

Pharmacological Intervention ◽

Cgg Repeats ◽

And Behavior

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 theFMR1gene 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.

Download Full-text

Influences on Maternal Responsivity in Mothers of Children With Fragile X Syndrome

American Journal on Intellectual and Developmental Disabilities ◽

10.1352/1944-7558-188.4.310 ◽

2013 ◽

Vol 118 (4) ◽

pp. 310-326 ◽

Cited By ~ 11

Author(s):

Audra M. Sterling ◽

Steven F. Warren ◽

Nancy Brady ◽

Kandace Fleming

Keyword(s):

Young Children ◽

Fragile X Syndrome ◽

Fragile X ◽

Language Ability ◽

Standardized Assessments ◽

Developmental Level ◽

General Measure ◽

Maternal Responsivity ◽

Video Observations ◽

And Behavior

Abstract This study investigated the influence of maternal and child variables on the maternal responsivity of 55 mothers with young children with fragile X syndrome. Data included video observations of mother-child interactions in four different contexts, standardized assessments with the children, and standardized questionnaires for the mothers. The video observations were coded for child communication acts; maternal responsivity was coded at two levels: a more general measure and a behavior-by-behavior measure. Results indicated that child developmental level and language ability strongly influenced behavior-by-behavior responsivity, while maternal IQ was the strongest predictor of both general and behavior-by-behavior responsivity, after controlling for child developmental level.

Download Full-text

Effects of Sertraline Treatment for Young Children with Fragile X Syndrome: Family Perspectives via Case Studies

10.33015/dominican.edu/2019.ot.01 ◽

2019 ◽

Author(s):

◽

Tracy Ye ◽

Decerie Mendoza ◽

Elena Javier ◽

Martina Dualan

Keyword(s):

Young Children ◽

Case Studies ◽

Fragile X Syndrome ◽

Fragile X ◽

Family Perspectives

Download Full-text

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

Genes ◽

10.3390/genes12081108 ◽

2021 ◽

Vol 12 (8) ◽

pp. 1108

Author(s):

Lorena Joga-Elvira ◽

Jennifer Martinez-Olmo ◽

María-Luisa Joga ◽

Carlos Jacas ◽

Ana Roche-Martínez ◽

...

Keyword(s):

Executive Function ◽

Executive Functions ◽

Fragile X Syndrome ◽

Adaptive Behavior ◽

Neuropsychological Tests ◽

Rating Scale ◽

Fragile X ◽

School Setting ◽

Control Group ◽

The Relationship

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.

Download Full-text

Heart activity and autistic behavior in infants with fragile X syndrome

International Journal of Psychophysiology ◽

10.1016/j.ijpsycho.2012.06.155 ◽

2012 ◽

Vol 85 (3) ◽

pp. 348-349

Author(s):

J.E. Roberts ◽

B.L. Tonnsen ◽

A. Robinson ◽

S. Shinkareva

Keyword(s):

Fragile X Syndrome ◽

Fragile X ◽

Heart Activity ◽

Autistic Behavior

Download Full-text

5.15 DRUG TREATMENT OF IRRITABILITY, AGGRESSION, AGITATION, AND SELF-INJURIOUS BEHAVIOR IN FRAGILE X SYNDROME: A LARGE-SCALE CROSS-SECTIONAL ANALYSIS

Journal of the American Academy of Child & Adolescent Psychiatry ◽

10.1016/j.jaac.2019.08.329 ◽

2019 ◽

Vol 58 (10) ◽

pp. S250

Author(s):

Eleanor Eckert ◽

Kelli Dominick ◽

Ernest V. Pedapati ◽

Rebecca Shaffer ◽

Howard Andrews ◽

...

Keyword(s):

Drug Treatment ◽

Fragile X Syndrome ◽

Large Scale ◽

Fragile X ◽

Cross Sectional ◽

Cross Sectional Analysis ◽

Sectional Analysis

Download Full-text

Developmental and Behavioral Pediatricians' Attitudes Toward Screening for Fragile X

American Journal on Intellectual and Developmental Disabilities ◽

10.1352/1944-7558-188.4.284 ◽

2013 ◽

Vol 118 (4) ◽

pp. 284-293 ◽

Cited By ~ 6

Author(s):

Kruti Acharya ◽

Abigail Schindler

Keyword(s):

Health Care ◽

Newborn Screening ◽

Fragile X Syndrome ◽

Health Care Providers ◽

Response Rate ◽

Fragile X ◽

Educational Interventions ◽

Care Providers ◽

Cross Sectional Survey ◽

Cross Sectional

Abstract Developmental and behavioral pediatricians (DBP) diagnose and care for children with fragile X syndrome. Their attitudes toward FMR1 newborn screening (NBS) and FMR1 carrier testing in childhood could highlight potential pitfalls with FMR1 NBS. We conducted a cross-sectional survey with an adjusted response rate of 61%. Among DBP, 74% supported universal FMR1 NBS, preferring to identify both full mutations and premutations. DBP also support FMR1 testing of asymptomatic siblings. Although DBP support testing for premutations at various points in the lifespan, DBP are not familiar with the array of fragile X–associated disorders (FXAD). Targeted educational interventions are needed to ensure that all health care providers have the knowledge and competence to consent and to counsel families on FXAD.

Download Full-text