LD Network

Fragile X Syndrome (FXS)

Fragile X syndrome (FXS) is a genetic condition which can cause developmental and learning differences in individuals. FXS results from a genetic alteration that affects the production of a crucial protein necessary for cognitive development and optimal functioning of the nervous system during development. In this blog, we address Fragile X syndrome, its symptoms and treatment options. At LD Network, we provide consistent and tailored support to meet the unique needs of people with learning disabilities and complex care needs.

Table of Contents

What is Fragile X Syndrome?

Fragile X syndrome (FXS) is a genetic condition that causes a range of developmental and learning challenges. It occurs due to a change of the FMR1 gene in the X chromosome.

When the gene was 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.

Learning disabilities and developmental delays are common manifestations of Fragile X syndrome, influencing cognitive and intellectual growth. Individuals with Fragile X may also experience communication, behaviour, and social interaction challenges, making it challenging to form meaningful connections with others. Additionally, FXS can significantly influence mental and physical health, necessitating comprehensive support and care.

Individuals born with this difference benefit from person-centred and tailored support.

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.

Common symptoms of Fragile X syndrome include:

Support for individuals and their families is essential for well-being and best outcomes.

Physical Features of People with FXS

Not every individual has all the physical features associated with FXS. Also, 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 include:

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 11,000 females and 1 in 7,000 males worldwide have FXS.

Is Fragile X Syndrome Hereditary?

Sex chromosomes play a fundamental role in determining an individual’s biological sex. Among the sex chromosomes, the X chromosome and the Y chromosome are the two primary types. Females typically inherit two X chromosomes, while males inherit one X and one Y chromosome. Fragile X syndrome is associated explicitly with the X chromosome, making it an X-linked condition.

As a result of this inheritance pattern, the impact of FXS differs between males and females. X-linked recessive conditions, such as FXS, are usually more prevalent in males. While males with X-linked conditions cannot pass the variant on to their sons due to transmitting their Y chromosome, they always pass their affected X chromosome to their daughters. If the condition is recessive, their daughters become carriers for it, meaning they carry the gene mutation but do not show symptoms.

The genetic implications of X-linked inheritance extend further to the offspring of female carriers of X-linked recessive conditions. Sons of female carriers have a 1-in-2 chance of being affected by the condition, as they can inherit either the affected X chromosome or the healthy X chromosome from the female carrier. Understanding the complexities of X-linked inheritance is crucial in predicting the likelihood of passing on the condition and providing appropriate genetic counselling and support for families.

Diagnosis of Fragile X Syndrome

The diagnosis of Fragile X syndrome can occur during pregnancy through specialised tests to detect potential genetic changes.

Two common diagnostic procedures are amniocentesis and chorionic villus sampling. During amniocentesis, doctors extract a sample of amniotic fluid from the protective sac surrounding the baby and analyse it for any alterations in the FMR1 gene. Similarly, chorionic villus sampling involves testing a sample of cells from the placenta to identify gene changes associated with Fragile X syndrome. These tests enable early detection, providing parents with essential information to make informed decisions about the pregnancy and prepare for potential challenges.

After birth, blood tests can provide a diagnosis that reveal specific gene changes associated with the condition. Signs of learning and behavioural challenges often become apparent during a child’s developmental stages, prompting physicians to consider genetic testing for a conclusive diagnosis.

Genetic counselling is another valuable resource in the diagnostic process, where healthcare professionals provide support, information, and guidance to families regarding the implications of the diagnosis, available management options, and strategies for optimising the child’s development and well-being.

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.

To achieve positive results and improvements, individuals with FXS 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.

It is essential to establish a support team so individuals with FXS can benefit from early intervention, care, and support.

Management and Treatment

The management and treatment of Fragile X syndrome require a collaborative approach, with various professionals and caregivers playing essential roles in supporting individuals. A multidisciplinary team tailors personalised treatment plans to address the unique needs of each person with Fragile X syndrome. By working together in partnership with the family, these dedicated professionals can facilitate learning, improve language and social skills, and implement effective behaviour management strategies. Their collective efforts provide a nurturing environment that fosters the overall development and well-being of individuals with Fragile X syndrome.

The comprehensive management and treatment plans for Fragile X syndrome encompass a range of interventions and therapies. Education plans are designed to accommodate the specific learning requirements of individuals with FXS, ensuring they receive the necessary support and resources to reach their full potential. Speech and language therapy is crucial in enhancing communication skills, enabling better interaction and expression.

Occupational therapy focuses on developing essential life skills and adaptive behaviours to promote independence and participation in daily activities. Additionally, behaviour therapy helps address challenging behaviours and foster positive coping mechanisms. In some cases, specific medications may be prescribed based on individual needs to manage specific symptoms associated with the condition.

Fragile X Syndrome and Autism

Fragile X syndrome and Autism are often diagnosed separately, with many children receiving an Autism diagnosis before being identified with FXS. Despite sharing similar symptoms and challenges, individuals with FXS and Autism face unique experiences.

One notable difference between them lies in language abilities. People with Autism tend to experience more challenges with receptive language, making it difficult for people to understand and process spoken information, while expressive language may be less affected. Equally, individuals with Fragile X syndrome often exhibit the opposite pattern, with expressive language presenting more significant challenges than receptive language. Additionally, social interactions differ between, as individuals with FXS generally show a higher interest in socialising, even though anxiety and avoidance can limit their engagement.

Motor coordination is another aspect where the challenges diverge. Fragile X syndrome tends to place more emphasis on motor coordination deficits, making it particularly challenging for individuals to develop precise and coordinated movements. In contrast, Autism usually does not present motor coordination challenges to the same degree.

Understanding these differences is crucial for tailoring support that best meets the unique needs of individuals with Fragile X syndrome, Autism, or a combination of both, allowing them to flourish and lead fulfilling lives.

Other Related Conditions with FXS

Fragile X syndrome is one of three syndromes in the Fragile X family. The other two Fragile X-associated syndromes are:

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Common symptoms of FXTAS include:

  • Challenges with balance
  • Shaky hands
  • Mood swings
  • Memory loss
  • Cognitive difficulties
  • Numbness in the hands and feet

Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)

Common symptoms of FXPOI include:

  • Reduced fertility or infertility
  • Absent or unpredictable menstrual periods
  • Premature menopause

Living with Fragile X Syndrome

Living with Fragile X syndrome may involve accommodations at school or the workplace to ensure the safety and well-being of the individual. This can include mobility adjustments and assistive technologies.

It is beneficial for families to become familiar with FXS resources in the community. Joining a group of FXS families to share information and support each other is recommended. Contacting and consulting experts and organisations who work with people with learning disabilities and complex needs should 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 provides compassionate and person-centred support to individuals with Fragile X syndrome and complex care needs.  We support individuals with Fragile X syndrome to live full and meaningful lives, embracing their interests and passions.

We provide tailored services and design care plans based on individual needs and preferences. Our clinicians work in multidisciplinary teams, are trained in positive behaviour support (PBS), and are available to provide dedicated care 24 hours a day and seven days a week.

To learn more about our compassionate care services, contact us now.