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National Fragile X Awareness Day 2023: What is Fragile X syndrome, know its symptoms and causes

Know what is Fragile X syndrome.

National Fragile X Awareness Day: Fragile X syndrome (FXS) is an inherited genetic disease. It reaches the children from the parents’ genes. It causes intellectual and developmental disabilities in children. To raise awareness about this, National Fragile X Awareness Day is celebrated every year on 22 July. Fragile X syndrome is the most common cause of mental retardation in boys. One out of four thousand boys suffers from it, although it affects girls less. In girls, this figure is one in eight thousand. More severe symptoms are also seen in boys as compared to girls. Children with FXS have problems with growth and learning. It is a long term or lifelong condition. Only a few people affected by this are able to live without any help. Let us know what are the symptoms and causes of Fragile X syndrome….

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Symptoms of Fragile X Syndrome

Fragile X syndrome can cause learning disabilities, developmental delays, and social or behavioral problems. The severity of the disability can vary. As a result, boys usually have some level of intellectual disability while girls may have some degree of intellectual disability or learning disability or both. In some cases girls also have normal intelligence. Fragile X syndrome is detected in them only when this problem is already present in any other family member.

These symptoms appear in childhood or throughout life in those affected by FXS.

  • delayed development, taking longer than usual to sit, walk or talk compared to other children their age
  • Stammer
  • intellectual and learning disabilities, such as trouble learning new things
  • general or social anxiety
  • autism
  • impulsive behavior
  • difficulty paying attention
  • Social issues, such as not making eye contact, dislike being touched, and trouble understanding body language
  • being hyperactive
  • have seizures
  • depression
  • difficulty sleeping

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Some FXS sufferers have physical abnormalities.

  • large forehead or ears, protruding jaw
  • too long face
  • protruding ears, forehead and chin
  • loose or flexible joints
  • flat feet

Causes of fragile X syndrome

Fragile X syndrome is caused by a defect in the FMR1 gene located in the DNA on the X chromosome. There are two types of sex chromosomes in DNA. One is the X chromosome and the other is the Y chromosome. Females have two X chromosomes while males have one X and one Y chromosome. Due to a defect in FMR1, the protein is not synthesized properly. This protein plays a role in the functioning of the nervous system. Its deficiency causes the symptoms of FXS.

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