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

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
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.

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

2013 ◽  
Vol 118 (6) ◽  
pp. 447-459 ◽  
Author(s):  
Bridgette L. Tonnsen ◽  
Svetlana V. Shinkareva ◽  
Sara C. Deal ◽  
Deborah D. Hatton ◽  
Jane E. Roberts
Keyword(s):  
Young Children ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Theoretical Models ◽  
Control Group ◽  
Heart Activity ◽  
Cross Sectional ◽  
Age Dependent ◽  
Distress Vocalizations ◽  
And Behavior

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.

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

2013 ◽  
Vol 118 (4) ◽  
pp. 310-326 ◽  
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.

scholarly journals Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.

1996 ◽  
Vol 43 (2) ◽  
pp. 383-388
Author(s):  
M Milewski ◽  
M Zygulska ◽  
J Bal ◽  
W H Deelen ◽  
E Obersztyn ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Dna Sequence ◽  
Clinical Features ◽  
Fragile Site ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Repeat Number ◽  
Full Mutation ◽  
Cgg Repeats ◽  
Large Expansion

The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of clinical features and expression of the fragile site at X(q27.3) a large expansion of the unstable sequence (full mutation) was detected. About 5% (2 of 43) of individuals with full mutation did not express the fragile site. Among normal alleles, ranging in size from 20 to 41 CGG repeats, allele with 29 repeats was the most frequent (37%). Transmission of premutated and fully mutated alleles to the offspring was always associated with size increase. No change in repeat number was found when normal alleles were transmitted.

scholarly journals Fragile X Syndrome and Targeted Treatment Trials

2011 ◽  
pp. 297-335 ◽  
Author(s):  
Randi Hagerman ◽  
Julie Lauterborn ◽  
Jacky Au ◽  
Elizabeth Berry-Kravis
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Targeted Treatment ◽  
Treatment Trials

scholarly journals Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

Genes ◽  
2020 ◽  
Vol 11 (2) ◽  
pp. 136
Author(s):  
Karen Kengne Kamga ◽  
Séraphin Nguefack ◽  
Khuthala Minka ◽  
Edmond Wonkam Tingang ◽  
Alina Esterhuizen ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Sub Saharan Africa ◽  
Rural Setting ◽  
Premature Menopause ◽  
Molecular Testing ◽  
Full Mutation ◽  
Cgg Repeat ◽  
Cgg Repeats

Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retardation gene 1 (FMR1) on chromosome X. Following a neuropediatric assessment of two male siblings who presented with signs of FXS that was confirmed with molecular testing, we provided cascade counselling and testing to the extended family. A total of 46 individuals were tested for FXS; among them, 58.70% (n = 27) were females. The mean age was 9.4 (±5) years for children and 45.9 (±15.9) years for adults. Pedigree analysis suggested that the founder of these families was likely a normal transmitting male. Four out of 19 males with clinical ID were confirmed to have a full mutation for FXS, while 14/27 females had a pathologic CGG expansion (>56 CGG repeats) on one of their X chromosomes. Two women with premature menopause were confirmed of being carriers of premutation (91 and 101 CGG repeats). We also identified maternal alleles (91 and 126 CGG repeats) which expanded to a full mutation in their offspring (>200 CGG repeats). This study is a rare report on FXS from Africa and illustrates the case scenario of implementing genetic medicine for a neurogenetic condition in a rural setting.

scholarly journals Developmental and Behavioral Pediatricians' Attitudes Toward Screening for Fragile X

2013 ◽  
Vol 118 (4) ◽  
pp. 284-293 ◽  
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.

scholarly journals Metformin as targeted treatment in fragile X syndrome

2017 ◽  
Vol 93 (2) ◽  
pp. 216-222 ◽  
Author(s):  
A.B.C. Dy ◽  
F. Tassone ◽  
M. Eldeeb ◽  
M.J. Salcedo-Arellano ◽  
N. Tartaglia ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Targeted Treatment
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