World Fragile X Day

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Context

• Each year on July 22nd, National Fragile X Awareness Day celebrates those impacted by Fragile X syndrome. The day also raises support for research, education and awareness.

Fragile X syndrome

• Fragile X syndrome is a mutation of a gene called the Fragile X Messenger Ribonucleoprotein 1 (FMR1).
• FMR1 usually makes a protein called FMRP that is needed for brain development.
• People who have FXS do not make this protein.
• Those with fragile X-associated disorders have changes in the FMR1 gene, but usually still make some of the protein.
• It is the most common form of inherited intellectual disability.
• FXS affects both males and females. However, females often have milder symptoms than males.
• Those who do show signs may have mild or severe symptoms.
• Physical, intellectual and behavioral symptoms may appear, and they vary between males and females.
• Women tend to have similar but milder symptoms or none at all.

Signs and Symptoms

Signs that a child might have FXS include:

• Developmental delays (not sitting, walking, or talking at the same time as other children the same age);
• Learning disabilities (trouble learning new skills); and
• Social and behavior problems (such as not making eye contact, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking, and being very active).
• Males who have FXS usually have some degree of intellectual disability that can range from mild to severe. Females with FXS can have normal intelligence or some degree of intellectual disability. Autism spectrum disorder (ASD) also occurs more frequently in people with FXS.

Cure

• Testing and treatment are available, but because there is no cure, more research is needed.
• Services can include therapy to learn to talk, walk, and interact with others. In addition, medicine can be used to help control some issues, such as behavior problems.

History of National Fragile X Awareness Day

• In 2000, the U.S. Senate passed a resolution naming July 22nd National Fragile X Awareness Day.
• The following year, the U.S. House passed a resolution also in support of the day. Both resolutions urged the day.
• National Institutes of Health, the CDC and researchers around the country and world to join the efforts to find a cure.

Significance of National Fragile X Awareness Day

• Through raising awareness, the day hope to further the search for a cure. National Fragile X Awareness Day takes place during National Fragile X Awareness Month to further highlight the importance of supporting families and finding a cure.

https://indianexpress.com/article/cities/delhi/world-fragile-x-day-shines-light-on-intellectual-disability-8855137/