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Fragile X Syndrome

TRUHAP

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We are made up of millions of cells, which carries the genetic information that we inherit from our parents. Genes are found lined up on chromosomes which are packed with thousands of chromosomes. We have 46 chromosomes (23 pairs).

The 23rd pair determines a person’s sex. Females have two X chromosomes and Males have one X and one Y chromosome. The Fragile X gene is on the “X” chromosome; it is on every “X” chromosome.

The ‘Fragile X mental Retardation 1’ (FMR1) was identified as the gene responsible for Fragile X in 1991. As women have two X chromosomes, they have two copies of this gene. Men on the other hand have only one copy of FMR1. The effect of this gene varies from one person to another.

Fragile X is syndrome can be marked with moderate intellectual disability in affected males and mild intellectual difficulty in females. The physical features tend to become more noticeable as the child gets older. The physical features can include large ears, large head, low muscle tone, prominent chin, loose joints, large testes, dental concerns, frequent ear infections, strabismus, also at times heart problems.

Apart from physical, cognitive and behavioural concerns are also a marker for fragile X syndrome. These may include symptoms of Attention Deficit Hyperactivity Disorder (ADHD), Learning difficulties, Autism Spectrum Disorder, delay motor development, speech delay, anxiety, hyper-hypo sensitive.

As per research, there is no cure for Fragile X syndrome, but identifying this condition early in life can help the child become independent. If a child has been identified, the following therapies can help the child develop to their maximal potential:

  1. Behavioural Therapy
  2. Speech therapy
  3. Occupational Therapy with Sensory Integration
  4. Special Education
  5. Social Skills training
  6. Group Therapies
  7. Medications as per symptoms for example for anxiety, hyperactivity or seizures etc.

For any childhood disorders, it is very important as parents to keep a track of your child’s developmental milestones. Taking necessary steps at the right time can help you and your child to cope up better with the condition from an early stage. It is important to seek help during their early stages.

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