Fragile X syndrome is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. This condition occurs when there is a mutation of the X chromosome called FMR1. The FMR1 gene provides instruction for making protein that helps regulate production of other proteins and has a role in the development of synapses which are critical for relaying nerve impulses. Fragile X syndrome occurs in both males and females, however females have more milder symptoms. The gene can be passed down from both mother and father. Mothers who carry the premutation have a 50% chance of passing the gene down to their children, who will either carry the premutation or have FXS. Fathers who carry the gene pass down the gene to only their daughters but they will only be a carrier of the FXS gene.
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Physical signs of the disorder include long face, large prominent ears, flat feet, hyperextensible joints, and low muscle tone. Autism Spectrum Disorder can occur in children with Fragile X syndrome. FXS is diagnosed through DNA testing and looks for an expanded mutation. There is no specific treatment for Fragile X syndrome however supportive therapy for children includes special education, medication, and therapy such as occupational
Physical signs of the disorder include long face, large prominent ears, flat feet, hyperextensible joints, and low muscle tone. Autism Spectrum Disorder can occur in children with Fragile X syndrome. FXS is diagnosed through DNA testing and looks for an expanded mutation. There is no specific treatment for Fragile X syndrome however supportive therapy for children includes special education, medication, and therapy such as occupational