Fragile X Syndrome: Know All About This Genetic Disorder

Genetic conditions can affect your health in many ways, know effects of fragile X syndrome on health of a person.

Puru Bansal
Written by: Puru BansalPublished at: Jan 17, 2022Updated at: Jan 17, 2022
Fragile X Syndrome: Know All About This Genetic Disorder

Inherited disorders can be worse because most of them do not have a relevant treatment or the cost is too high. Syndromes with genetic disorder affect children the most because they are at a developing stage. As a result of this, the syndrome causes intellectual and developmental disabilities. Fragile X syndrome is also an inherited genetic disease which is passed down from parents to their children. However this syndrome is more evident in boys than in girls. It affects their physical and mental development and also causes a few abnormalities. Let us discuss about the condition in detail with help of an expert. 

Fragile X Syndrome- What is it?

This is an inherited syndrome which causes disability in children in their development and intellectual levels. Usually boys are affected more because of this disease than girls. Fragile X Syndrome creates a range of problems associated with learning and motor development. According to Dr. Suresh Mathur, Genetic Consultant in Vozart Healthcare Hospital, Bangalore, and this genetic disorder occur because of usual presence of X syndrome in the genes. Because of the structural differences in X chromosome which transfers through parent body to children, Martin Bell Syndrome occurs.

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Symptoms of Fragile X Syndrome

Since this disease is connected to a number of disabilities related to development of the child. Most of the symptoms also define behavioural problems in children that occur during developmental delays, lack of social and interactive skills, etc. Disability of Fragile X Syndrome may vary in severity in different cases that affects the level of intellect in children. 

Boys going through fragile X syndrome have intellectual disability, whereas girls usually have both intellectual disability as well as learning disability. Interestingly, girls with this syndrome may also have higher intelligence levels in some cases. 

Some evident symptoms of fragile X syndrome are-

  1. Taking longer time to sit, stand, walk and talk as compared to children of same age
  2. Intellectual and learning problems, face problems in learning new skills
  3. Stuttering
  4. General or social anxiety
  5. Impulsiveness 
  6. Autism 
  7. Attention deficit disorder and difficulties 
  8. Not able to make eye contact with other, trouble understanding body language
  9. Depression
  10. Having seizures
  11. Hyperactivity
  12. Difficulty in sleeping 
  13. Do not like being touched 

Fragile X Syndrome: Why is it Caused?

As told by Dr. Suresh, FXS is caused because of deficit in FMR1 gene. This gene is usually located in the X chromosome. Lack of this particular gene makes it difficult for mutation. Men have X and Y chromosome whereas women have 2 X chromosomes that makes it more challenging. 

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Fragile X Syndrome occurs when the FMR1gene is not able to prevent processing a protein called fragile mental retardation 1 protein. As an effect of lack of this gene, the functions in the nervous system operate differently and result to disabilities. Even though the exact function of this protein is not understood, it is important for a healthy person not to have this protein. Fragile X syndrome is a result of this genetic defect which occurs in the body.

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What abnormalities do people with fragile X syndrome have?

They may have one or more than one type of abnormality from the following conditions-

  • Having flat feet
  • Born with elongated face
  • Large forehead or bigger ears with a prominent jaw line
  • Protruding ears, forehead and chin
  • Loose or flexible joints

Risks associated with Fragile X Syndrome

Along with disabilities, there are a few health risks that are connected to this syndrome. People having fragile X syndrome increase your risk of falling for conditions related to hormones and severity of symptoms that occur in this genetic disease. 

Women have increased risk because this syndrome can affect their menopause; it can happen before the natural age. Also women may have increased risk of premature birth in babies in some conditions. Men who suffer from fragile X syndrome are more likely to have tremors and also a syndrome called fragile X tremor ataxia syndrome. This gets worse with time and you may also face problems with balancing and walking. Male carriers of fragile X syndrome also have increased risk of dementia. 

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Ways To Diagnose Fragile X Syndrome

Well, people having this syndrom show symptoms from early childhood, hence it is important to observe their behaviour and development process. Parents must inform the doctor if they have this syndrome from before so that the risk factors could be minimized. Any physical symptoms determining this syndrome should not be neglected. 

After checking the family history for FXS, boys of 35-37 months are diagnosed to understand the chromosome they have. For girls, the age of diagnosis is usually 40-41 weeks. DNA test is done called FRM DNA test to undersand gene mutations associated with FXS. If the results come positive, then relevant action plan is suggested by the doctor.

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Treatment of Fragile X Syndrome

Since this is genetic disease, it is not possible to cure it totally but there are ways in which fragile X syndrome can be reduced or symptoms could be controlled. For example, there are therapies and methods through which key language and social skills can be improved. 

People going through this disorder, need to pay attention and take them to counsellor and teachers that can improve their attention deficit disorder or problems such as anxiety. They should also prescribe them relevant treatment to unsure that mental health of such patients does not go worse. 

Medications such as following are given-

  • Methylphenidate 
  • Guanfacine
  • Clonidine
  • Selective serotonin reuptake inhibitors 

These help in controlling the behavioural problems and therapies together can improve the condition of patient with fragile X syndrome. Therapies such as behavioural therapy, developmental classes and so on need to be processed from very young age for scope of improvement. 

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