Fragile X Spectrum Disorders

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Randi Jenssen Hagerman

MIND Institute, School of Medicine, University of California, Davis

David Hessl

University of California, Davis

Sarah Lippe

Montreal University

Francois Bolduc

University of Alberta

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Fragile X spectrum disorders include those with a full mutation (>200 CGG repeats) in FMR1 causing fragile X syndrome (FXS) and those with a premutation (55 to 200 CGG repeats) causing early ovarian insufficiency labelled fragile X-associated primary ovarian insufficiency (FXPOI), the neurodegenerative disorder fragile X-associated tremor ataxia syndrome (FXTAS) and fragile X-associated neuropsychiatric disorder (FXAND). FXS is the most common single gene cause of Autism Spectrum Disorder (ASD) and the most common inherited cause of intellectual disability. All individuals diagnosed with ASD or intellectual disability should have fragile X DNA testing. Sometimes the premutation can cause ASD and this is part of the neuropsychiatric disorders (FXAND) that can occur in childhood or adulthood.

This Research Topic focuses on all fragile X mutations and the broad spectrum of conditions and symptoms caused by the premutation and/or the full mutation. Correlations with molecular markers including FMRP deficits, mitochondrial problems, environmental modifiers, toxins and co-morbid conditions are of interest. New treatment studies, brain imaging, outcome measures and treatments in animal models are also of interest.

The goal of this Research Topic is to describe the varied conditions caused by fragile X mutations and explore a variety of environmental or biological factors that modify phenotypic expression, including risk and protective factors. The conditions concerning fragile X syndrome (FXS), FXPOI, FXTAS, FXAND, FXPAC and others can be included. New treatments will be highlighted in animal, cellular or human studies.

We welcome Original Research, Review articles and case history studies on the following topics:

• Breadth of the spectrum of involvement;
• Longitudinal studies including natural history studies;
• Neuropsychological studies;
• Treatment studies;
• Outcome measures of treatment studies;
• Risk and protective factors for FXTAS, FXPOI, or FXS severity;
• Neuroimaging studies;
• Molecular clinical measures;
• All premutation and full mutation conditions will be considered including FXS, FXTAS, FXPOI,FXAND and FXPAC;
• Animal models of FXTAS and FXS especially novel models/species.

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Editors

Randi Jenssen Hagerman

MIND Institute, School of Medicine, University of California, Davis

David Hessl

University of California, Davis

Sarah Lippe

Montreal University

Francois Bolduc

University of Alberta

Impact

91,394 Total views

65,485 Article views

24,174 Article downloads

1,735 Topic views

Published In

Frontiers in Psychiatry

Child and Adolescent Psychiatry

Frontiers in Pediatrics

Child and Adolescent Psychiatry

Frontiers in Neuroscience

Child and Adolescent Psychiatry

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