LD Network

Fragile X Syndrome (FXS)

Fragile X syndrome (FXS) causes intellectual and developmental disabilities due to a gene change responsible for producing a protein essential for the cognitive development and functioning of the nervous system during human development. Since this condition is inherited, many family members have questions about Fragile X syndrome. This blog addresses Fragile X syndrome, its signs, symptoms and treatment. At LD Network, we provide innovative and tailored support to meet the needs of the people we serve.

Table of Contents

What is Fragile X Syndrome?

Fragile X syndrome is an inherited genetic condition which causes intellectual disability and developmental disability. It occurs due to a change of the FMR1 gene in the X chromosome.

When observed under a microscope, the name ‘Fragile X’ was given because the X chromosome looked fragile. FXS, also known as Martin-Bell syndrome, was named after its discoverers in 1943, Julia Bell and James Purdon Martin.

Fragile X syndrome can impact a person in different ways, such as:

Individuals born with this genetic condition can get proper education, support and treatment from a young age. Support in this form can help people with FXS improve, develop, and have a meaningful life.

Fragile X Syndrome Symptoms

Signs and symptoms of Fragile X syndrome usually appear by the age of 2 with delayed speech and language. On average, males are diagnosed around 35-37 months old, while females are diagnosed around 42 months old.

Some of the common Fragile X syndrome symptoms are:

In any of these cases, support and care in the community for individuals and families are essential.

Physical Features of People with FXS

Individuals with FXS don’t have all the physical features associated with the condition, and some features are more common after puberty. However, there are some physical features that individuals with FXS may acquire, such as

Behavioural Characteristics of People with FXS

Individuals with Fragile X syndrome also have associated behavioural characteristics.

Associated behavioural characteristics of FXS:

Every person is unique. Individualised services provide proactive support for people with FXS and help individuals overcome challenges.

What Causes Fragile X Syndrome?

Fragile X syndrome is caused by a change in the FMR1 gene responsible for producing a protein called fragile X messenger ribonucleoprotein, or FMRP. This protein, commonly found in the brain, is essential for the cognitive development and functioning of nervous system nerve cells.

Fragile X syndrome more frequently affects males than females. According to findings, about 1 in 8,000 – 11,000 females and 1 in 4,000 – 7,000 males worldwide have FXS.

Is Fragile X Syndrome Hereditary?

There are two types of sex chromosomes, and one of them is the X chromosome. The other is the Y chromosome. A female has a copy of two X chromosomes. However, males have one X and one Y chromosome.

Fragile X syndrome can be passed down from parents to children through genes. FXS is an X-linked condition. The characteristic of X-linked inheritance and affected individuals is the following:

Diagnosis of Fragile X Syndrome

The diagnosis of Fragile X syndrome can happen during pregnancy with tests:

The diagnosis of Fragile X syndrome can happen after a child is born through blood tests that show gene changes.

Another way to diagnose FXS is when the learning and behaviour challenges are apparent during a child’s development. Among the options for diagnosis is genetic counselling, too.

Is Fragile X Syndrome Permanent?

Fragile X syndrome is a permanent condition. However, proper support and care can help people learn or improve essential skills, such as talking, walking, and interacting with others.

Some people with Fragile X syndrome are even able to live independently. According to some surveys, about 4 in 10 females and 1 in 10 males with FXS achieve high independence. These differences in achievement are because of females’ abilities to read books that include new words, speak complex sentences or speaking an average speed.

To achieve positive results and improvements, people with FXS (males and females) and their families must work closely with support workers and healthcare providers to develop customised plans.

Can Fragile X Syndrome be Prevented?

Fragile X syndrome cannot be prevented as it is a genetic condition.

What is essential is establishing a support team so the person with FXS can benefit from early intervention, care and support.

Management and Treatment

The management and treatment of Fragile X syndrome involve support and care from:

These multidisciplinary teams and customised treatment plans are vital for a person with Fragile X syndrome. Working as a team alongside the family can help individuals learn, improve language and social skills or change behaviour.

The management and treatment include:

While some people with FXS live independently, others may need more extended support and care.

Fragile X Syndrome and Autism

Fragile X syndrome and Autism are often diagnosed separately. Many children are diagnosed with Autism before they are diagnosed with FXS.

People with FXS and with Autism face similar but different symptoms, challenges and developmental and intellectual disabilities than people with Fragile X syndrome only. However, people with FXS and Autism can live equally meaningful lives and have excellent skills.

Some of the differences between these two conditions are the following:

Other Related Conditions with FXS

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Symptoms typical for FXTAS are:

Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)

Symptoms typical for FXPOI are:

Living with Fragile X Syndrome

Living with Fragile X syndrome may mean adjustments involve accommodations at school or school programs. Others changes include a change of habits to ensure the safety and well-being of the person.

Among the advice, especially for the family of a person with Fragile X syndrome, is to become familiar with FXS resources in the community. Joining a group of FXS families to share information and support each other is also recommended. Contacting and consulting experts and organisations who work with people with learning disabilities and with people with complex needs must be consistent during childhood and later in life.

People with milder symptoms of FXS can live independently, pursue higher education and have full-time jobs. With the right support and treatment, every person with Fragile X syndrome can have a good quality of life, full of their own interests and passions.

How LD Network Supports People with Fragile X Syndrome

LD Network has many years of experience working alongside people with learning disabilities, Autism and people with other complex care needs. We aim to support individuals with Fragile X syndrome to live full and meaningful lives.

We provide tailored services, designing the management and treatment plans based on the person’s needs. Our sustainable care plan can change over time and adapt to the individual’s needs. Our clinicians can work in multidisciplinary teams, and we train our team in positive behaviour management and behaviour support. We also provide committed and constant clinicians to support and care for people with learning disabilities and complex care needs 24 hours a day and seven days a week.

If you have questions or requests, contact us now.