Fragile X syndrome

Symptoms

What are the main cognitive and behavior symptoms of fragile X syndrome?

Fragile X syndrome leads to developmental delays including speech delays and intellectual disability (formerly known as mental retardation) of varying degrees from severe cognitive impairment to mild learning disabilities. Individuals with fragile X syndrome can also have extreme anxiety, sensory disorders, social withdrawal, aberrant behavior, aggressive behavior, and stereotypic (repetitive and without function) behaviors like hand-flapping and body rocking. Many of these behaviors, including gaze avoidance, can cause fragile X syndrome to be mistaken for autism. While people with fragile X syndrome can also have autism, fragile X syndrome is a separate disorder with additional signs and symptoms.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fragile-x-syndrome/symptoms/18026 • DATE UPDATED: 2016-06-10

References

Huddleston LB, Visootsak J, Sherman SL. Cognitive Aspects of Fragile X syndrome. Wiley interdisciplinary reviews Cognitive science. 2014;5(4):501-508. doi:10.1002/wcs.1296.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254684/

Kidd, Sharon A., et al. "Fragile X syndrome: a review of associated medical problems." Pediatrics 134.5 (2014): 995-1005.

http://www.ncbi.nlm.nih.gov/pubmed/25287458

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