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Understanding Fragile X syndrome

February 24, 2019

Fragile X Syndrome - FXS is a genetic condition and results in a wide range of developmental problems. Learning disabilities, intellectual disability, social and communication related issues are some of the conditions associated with FXS.

It has been found that presence of the Fragile X Syndrome is more common in males as compared to females.

The syndrome is caused by mutation in the FMR1 gene. Mutations in the gene prevents it from producing vital protein called FMRP.

The shortage of this protein affects the working of nervous system and results in Fragile X Syndrome.

Autism is gaining awareness worldwide however, Fragile X Syndrome (FXS), only known single gene cause of Autism, needs to be better understood. FXS is not apparent and more than often missed. Research shows that 2-4% of all children with a diagnosis of Autism have FXS as the underlying cause of their condition. It is a genetically-defined inherited condition that can be diagnosed by a DNA blood test. Shalini Kedia, Chairperson of Fragile X Society-India

Stressing on the need of timely detection of the syndrome, Shalini Kedia also says " If the first child is diagnosed in time, the families can prevent the next child from having the same condition and given the genetic nature of the condition, in time diagnosis can be an alert to close family members who are planning addition to their family."

SYMPTOMS

The signs and severity of Fragile X Syndrome may vary from person to person.

- Delayed growth after birth- not being able to learn to crawl or walk.

- Language and speech problems.

- Fidgeting, hand flapping

- Not being able to make eye contact

- Mood swings, temper issues, meltdowns

- Impulsiveness, hyperactivity

- Aggression, self-harming,

- Inattention and focus issues.

Physical characteristics

Apart from these there are some physical characteristics that may be found in people with FXS.

- Large head, pointed narrow face, large forehead and chin

- Bigger ears, flat feet

- In case of boys, testicles may be enlarged after puberty.

Early intervention can make life less challenging for the children as they can get timely help.

"As a speech therapist, my work is to ensure that speech delayed are worked on in the children. It is important that the disorders are detected early so that the children can get early help. Age appropriate therapy is used for effective learning of the children." Saugandh Pratap Singh, Audiologist & Speech Therapist

CURE

There is no cure for Fragile X Syndrome at present. Early intervention and detection can ensure that children get the much needed therapy and support.

Therapies such as speech therapy, physical therapy, or behavioral therapy and special education programs can help children learn strategies to cope with the syndrome and lead better lives.

In some cases. Medications can also be used for treating symptoms that come with FXS such as seizures, mood swings, aggression, hyperactivity etc.

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