Fragile X Syndrome

“Having Fragile X Syndrome does not make you more Fragile than the others!”

With some cutting-edge research going on in the field of biosciences, scientists and researchers are discovering and discussing disorders and conditions that are quite unheard of by the general public. One such syndrome is the Fragile X syndrome. As the name implies, it is a genetic disorder but the reason we are clubbing in under the umbrella term of “Neurodiversity” is because of the neurodevelopmental delays and effects it has. 

So just like you I was curious too,

What is the meaning of Fragile X Syndrome?

Fragile X Syndrome (FXS) is a genetic condition that leads to a range of developmental problems like cognitive impairment and learning differences. Usually the signs and symptoms like delayed speech and language are shown by the age of 2.         

The main question is, Why is it even called Fragile X Syndrome? 

The answer to this important question lies in knowing, what really causes FXS? 

This syndrome is caused by changes in a gene on the X chromosome that scientists called the fragile X mental retardation 1 (FMR1) gene when it was first discovered. FRMP which stands for fragile X mental retardation protein is a specific protein that is secreted by this gene is required for appropriate and steady brain development in humans. In FXS, the FRMP protein is not secreted by the FMR1 gene due to some genetic anomaly (mutation) and this leads to a disruption in several neurological functions.

What are the common signs of FXS?

• Delayed developmental milestones (speech, walking, sitting,)
• Stuttering 
• Learning difficulties
• Comorbid neurodevelopmental conditions like Autism, ADHD
• Seizures
• Social behavioural issues (shying away from eye contact, uncomfortable in social settings)
• Depression and anxiety

How is FXS diagnosed?

A thorough amount of genetic counselling is usually recommended before going in for a presumptive diagnosis of FXS, since it is a genetic disorder and is based on inheritance, which possibly raise issues amidst the family members and could be a cause for concern. Usually the DNA extracted from a blood test that is conducted is sufficient to determine the occurrence of FXS in the child.

Early diagnosis can be quite helpful for the family, caregivers and the support system involved for the child because now they can put up the right kind of accommodations for the child. This will also allow the family to understand the behavioural and psychological concerns of the child and can help the child in the right way possible to reach their full potential.

How is FXS treated or managed?

There is no permanent solution or cure for FXS. Since it is a lifelong condition, there are certain accommodations that can be put into place to help the child develop to their full potential by following a holistic approach. 

Some of the therapy/treatment strategies that can be used for managing FXS are: 

• Behavioural therapy
• Speech therapy
• Occupational therapy
• Medications to manage symptoms of ADHD, anxiety, depression and other comorbidities
• Special education resources at school 
• Psychological therapy 
• Physical therapy

Finding support and services

When parents are concerned about their child’s development and growth, it can be quite a challenging task to come to terms with it and figure out the right steps that need to be taken. In case you think your child is showing symptoms of Fragile X Syndrome, it would be best to get in touch with your nearest GP or family physician. 

We hope you have learnt about a new syndrome today and reading this article has made you just as mindful about Neurodiverse conditions just as it has helped me to increase my dearth of knowledge while writing it.