Cardiovascular Abnormalities in Children With Fragile X Syndrome

It has been suggested by several authors that the prevalence of mitral valve prolapse and aortic root dilation is increased in individuals with the fragile X syndrome. The prevalence of these abnormalities in young children with fragile X has not been established. Sixteen boys and 1 girl 13 years or younger were studied. Only 1 child (6%) had the typical examination findings of mitral valve prolapse, although his echocardiogram was normal. From this study it appears that cardiac abnormalities in fragile X syndrome develop in late childhood and adolescence. It seems important to follow these children carefully so that these cardiac abnormalities can be documented when they do develop.

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Aortic root dilatation and mitral valve prolapse in the fragile X syndrome

American Journal of Medical Genetics ◽

10.1002/ajmg.1320230113 ◽

1986 ◽

Vol 23 (1-2) ◽

pp. 189-194 ◽

Cited By ~ 43

Author(s):

James P. Loehr ◽

David P. Synhorst ◽

Robert R. Wolfe ◽

Randi J. Hagerman ◽

John M. Opitz ◽

...

Keyword(s):

Mitral Valve ◽

Fragile X Syndrome ◽

Aortic Root ◽

Mitral Valve Prolapse ◽

Fragile X ◽

Aortic Root Dilatation

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Mitral valve prolapse and aortic dilatation in the fragile X syndrome

American Journal of Medical Genetics ◽

10.1002/ajmg.1320170107 ◽

1984 ◽

Vol 17 (1) ◽

pp. 123-131 ◽

Cited By ~ 23

Author(s):

Randi J. Hagerman ◽

David P. Synhorst ◽

John M. Opitz

Keyword(s):

Mitral Valve ◽

Fragile X Syndrome ◽

Mitral Valve Prolapse ◽

Fragile X ◽

Aortic Dilatation

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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

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Mitral Valve Prolapse with Aortic Root Dilation: An Echocardiographic Study

Developments in Cardiovascular Medicine - Echocardiology ◽

10.1007/978-94-009-9324-2_35 ◽

1979 ◽

pp. 237-240

Author(s):

L. Humblet ◽

V. Baudinet ◽

P. Collignon

Keyword(s):

Mitral Valve ◽

Aortic Root ◽

Mitral Valve Prolapse ◽

Echocardiographic Study

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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.

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Metformin treatment in young children with fragile X syndrome

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.956 ◽

2019 ◽

Vol 7 (11) ◽

Cited By ~ 7

Author(s):

Hazel Maridith B. Biag ◽

Laura A. Potter ◽

Victoria Wilkins ◽

Sumra Afzal ◽

Alexis Rosvall ◽

...

Keyword(s):

Young Children ◽

Fragile X Syndrome ◽

Fragile X ◽

Metformin Treatment

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Cardiac abnormalities in the fragile X syndrome.

Heart ◽

10.1136/hrt.61.3.289 ◽

1989 ◽

Vol 61 (3) ◽

pp. 289-291 ◽

Cited By ~ 31

Author(s):

N Sreeram ◽

C Wren ◽

M Bhate ◽

P Robertson ◽

S Hunter

Keyword(s):

Fragile X Syndrome ◽

Fragile X ◽

Cardiac Abnormalities

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Joint Engagement and Early Language in Young Children With Fragile X Syndrome

Journal of Speech Language and Hearing Research ◽

10.1044/2016_jslhr-l-15-0005 ◽

2016 ◽

Vol 59 (5) ◽

pp. 1087-1098 ◽

Cited By ~ 2

Author(s):

Laura J. Hahn ◽

Nancy C. Brady ◽

Kandace K. Fleming ◽

Steven F. Warren

Keyword(s):

Young Children ◽

Fragile X Syndrome ◽

Rating Scale ◽

Fragile X ◽

Language Skills ◽

Expressive Language ◽

Autism Spectrum ◽

Language Abilities ◽

Joint Engagement ◽

Autism Symptomatology

PurposeIn this study, we examine joint engagement (JE) in young children with fragile X syndrome (FXS) and its relationship to language abilities and autism spectrum disorder symptomatology at 24 to 36 months (toddler period) and 59 to 68 months (child period).MethodParticipants were 28 children with FXS (24 boys, four girls) and their mothers. Videotaped home observations were conducted during the toddler period and coded for JE. Language abilities were measured at both ages from a developmental assessment, a functional measure, and from a language sample. The Childhood Autism Rating Scale (Schopler, Reichler, & Renner, 1988) was completed at both ages.ResultsChildren with FXS spent more time in supported JE than in coordinated JE. Using a weighted JE variable, we found that children with FXS who had higher weighted JE scores also had more advanced expressive language skills at both the toddler and child periods. Weighted JE was negatively related to autism symptomatology in the toddler period.ConclusionThis study provides evidence that children with FXS who use more JE also have more advanced expressive language skills in early development. Therefore, existing early interventions that target JE behaviors may be effective for promoting language, social communication, and social interaction in this population.

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