What is Fragile X Syndrome?

Fragile X Syndrome also known as the "Martin-Bell Syndrome" is a genetic disorder caused by a change to one of the genes on the X chromosome. The genetic condition causes a range of developmental problems such as learning disabilities and cognitive impairment. Fragile X syndrome occurs in approximately 1 in 4000 males and 1 in 8000 females.

The genetic condition was first described in 1943 by Martin and Bell. The discovery was made following a family case study in which intellectual disability appeared to be inherited and linked to the X chromosome. In 1969, Herbert Lubs observed that the lower end of the X chromosome was "fragile", hence the name - "Fragile X Syndrome". 

What are the early signs of Fragile X Syndrome in Children?

The disability can cause a variety of symptoms in children, including behavioural, emotional, speech, and sensory issues:

• Delayed Speech
• Delayed Motor Skills
• Social Anxiety
• Hyperactivity and Short Attention Spans
• Learning Difficulties
• Autistic-like Behaviours: sensitivity to noise and crowds, poor eye contact, hand biting/flapping

Some individuals with Fragile X Syndrome also have physical traits, which may become more present after puberty:

• Flat Feet
• Flexible Joints
• Long / Narrow Faces
• Large Ears

What causes Fragile X Syndrome in Children?

Fragile X is caused by a mutation in a certain gene that prevents the body from making an important protein. This protein helps create and maintain connections between the nervous system and brain cells.

Is there a cure for Fragile X?

No. In short, there is no cure for Fragile X. It is a lifelong condition that can not be cured. However, there are a number of therapies and treatments that can be applied to help reduce effects. These include:

• Speech and Language Therapy
• Occupational Therapy
• Behavioural Therapy
• Special Education
• Medication
• Gene Therapy

Sources: FRAXA, Mediline, Better Health, NHS

Written and Edited by Max Mannouch