STXBP1-Related Disorder

STXBP1-Related Disorder

STXBP1-related disorder is a rare genetic neurological condition caused by a change, or variant, in the STXBP1 gene. This gene plays an important role in communication between nerve cells by helping regulate the release of chemical messengers in the brain.

Changes in the STXBP1 gene can affect how nerve cells communicate and can influence brain development and function. STXBP1-related disorders can affect people in different ways, and the type and severity of difficulties can vary considerably from person to person.

Many people with STXBP1-related disorder experience developmental delay, epilepsy and movement difficulties. However, each person's combination of symptoms and abilities is unique.

What causes STXBP1-related disorder?

STXBP1-related disorder is caused by a disease-causing change in the STXBP1 gene.

In most people, the genetic change occurs de novo, meaning it happens for the first time in that person and is not inherited from either parent. Parents are therefore usually not responsible for the genetic change occurring.

A genetic specialist can provide individual advice about inheritance and the implications for other family members.

How is STXBP1-related disorder diagnosed?

STXBP1-related disorder is diagnosed through genetic testing, which identifies a disease-causing variant in the STXBP1 gene.

The condition may be considered when a child or adult has a combination of developmental, neurological, seizure or movement difficulties.

Assessment may include:

• Developmental assessments

• Neurological examination

• Genetic testing

• Brain imaging, such as an MRI, where appropriate

• Assessment of movement, muscle tone and mobility

• Assessment of communication and learning

• Assessment of feeding and swallowing where required

• Assessment of seizures and epilepsy

Because STXBP1-related disorder can affect several areas of development, individuals may be supported by a multidisciplinary team.

How common is STXBP1-related disorder?

STXBP1-related disorder is very rare, and its exact prevalence is not known.

Estimates of how frequently STXBP1-related disorders occur vary, partly because genetic testing and awareness of the condition have increased over time. More people are being identified as access to genetic testing improves.

Because prevalence estimates can change as more people are diagnosed, we recommend checking the latest information from specialist STXBP1 organisations.

What are the symptoms of STXBP1-related disorder?

STXBP1-related disorder can affect people in different ways. Difficulties often become apparent during infancy or early childhood, although the presentation varies considerably.

Possible features include:

Developmental delay

Children may take longer to develop skills such as head control, rolling, sitting, crawling, standing and walking.

Epilepsy and seizures

Epilepsy is common in people with STXBP1-related disorder, and seizures may begin during infancy or childhood.

Low muscle tone

Some people have reduced muscle tone, which can affect their ability to maintain posture, control movement and develop strength.

Movement difficulties

Movement difficulties can include problems with coordination, balance, motor planning and controlling voluntary movements.

Ataxia

Ataxia refers to difficulties coordinating movement. This can affect activities such as walking, reaching, standing and using the hands.

Dystonia

Dystonia can cause involuntary muscle contractions and unusual or sustained postures or movements.

Tremor

Some people may experience tremor or other involuntary movements that can affect functional activities.

Speech and communication difficulties

Speech and communication development can be delayed, and some people may use alternative or augmentative forms of communication.

Feeding and swallowing difficulties

Some individuals may experience difficulties with eating, drinking or swallowing and may require support from a speech and language therapist or other healthcare professional.

Learning and cognitive difficulties

Learning difficulties can range from mild to more significant developmental or intellectual disability.

Behavioural or sensory differences

Some individuals may experience behavioural, sensory or emotional differences that can affect participation in everyday activities.

Not everyone with STXBP1-related disorder will experience all of these difficulties.

How is STXBP1-related disorder managed?

There is currently no cure for STXBP1-related disorder, so management focuses on supporting the individual's health, development, function, communication and quality of life.

Because the condition can affect several areas, support is often provided by a multidisciplinary team. This may include:

• Physiotherapists

• Occupational therapists

• Speech and language therapists

• Paediatricians or neurologists

• Epilepsy specialists

• Dietitians

• Psychologists

• Other specialist healthcare professionals

Management is individualised according to the person's needs, abilities and goals.

How can physiotherapy help with STXBP1-related disorder?

Physiotherapy can support people with STXBP1-related disorder who experience difficulties with movement, strength, balance, coordination, muscle tone, posture or functional mobility.

Treatment is adapted to the individual's developmental level, communication needs, fatigue, seizure history and physical abilities.

Physiotherapy may include:

Motor development

For children with delayed motor development, sessions may involve practising skills such as head control, rolling, sitting, crawling, kneeling, standing and walking.

Play and motivating activities can be incorporated into sessions to encourage movement and participation.

Postural control

For individuals with low muscle tone or difficulties maintaining an upright position, physiotherapy may include supported sitting and standing activities to encourage trunk activation and postural control.

Balance and coordination

Activities such as reaching, weight shifting, stepping and moving across different surfaces can be used to develop balance, coordination and body awareness.

Strength and muscle control

Functional activities such as sit-to-stands, supported squats or high kneeling can be used where appropriate to develop strength and motor control.

Muscle tone and movement

Physiotherapy can support individuals experiencing changes in muscle tone, including low tone or involuntary movements such as dystonia. Treatment may include positioning, active movement, functional activities and strategies to maintain comfortable movement.

Walking and gait

For people developing or maintaining their walking, physiotherapy may include supported stepping, gait practice, balance activities and exercises to improve strength and confidence.

Walking aids may be considered where appropriate.

Functional skills

Physiotherapy can focus on meaningful everyday activities, such as moving between positions, getting up from the floor, transferring, standing, walking and participating in play or other activities.

Education for families and carers

Physiotherapists can provide families and carers with advice around positioning, safe transfers, movement and activities that can be incorporated into everyday routines.

Education can help families support the person's development and maintain movement and physical function between therapy sessions.

Specialist equipment at Positive Steps

At Positive Steps, specialist rehabilitation equipment may be incorporated into an individual's physiotherapy programme where appropriate.

Equipment is selected according to the person's abilities, presentation and goals and forms part of a wider rehabilitation programme.

EzyGain Treadmill

The EzyGain treadmill can provide a controlled environment for supported walking practice. For individuals who are developing their walking, it may provide opportunities to practise stepping and gait with appropriate support.

Hydrotherapy

Hydrotherapy can provide a supportive environment for individuals with reduced strength, balance or mobility.

The buoyancy of the water can reduce the amount of weight placed through the body, making it possible for some individuals to practise movements that may be more difficult on land.

Games and activities such as reaching for objects, stepping and changing position can be incorporated into sessions to work on balance, coordination and strength. The resistance of the water can also provide an opportunity to challenge movement and build strength.

BlazePods

BlazePods can be incorporated into interactive activities to encourage reaching, stepping, balance, coordination and reactions.

The position, distance and speed of the targets can be adjusted according to the individual's abilities, making the activities suitable for different levels of movement and coordination.

Not every piece of equipment will be suitable or necessary for every person. Our physiotherapists will assess the individual's needs and goals before deciding which approaches are appropriate.

Can physiotherapy help children with STXBP1-related disorder?

Yes. Physiotherapy can support children with STXBP1-related disorder who are experiencing difficulties with movement and physical development.

For a child who is still developing their motor skills, therapy may focus on achieving developmental milestones and building the foundations for future movement. For children who are already walking or have established movement patterns, physiotherapy may focus on improving balance, coordination, strength, mobility and functional independence.

The focus of therapy can change as the child develops and their needs change.

How can Positive Steps help?

STXBP1-related disorder can affect each person differently. At Positive Steps, we work with the individual and their family to understand their abilities, challenges and priorities.

Together, we can identify meaningful goals and develop an individualised physiotherapy programme to support movement, strength, balance, functional skills and independence.

Whether the goal is developing a new movement skill, improving walking, becoming more confident with transfers or maintaining physical abilities, our approach is focused on what can be done and finding ways to help each person participate in the activities that matter to them.

If you would like to find out more about how physiotherapy at Positive Steps could support someone with STXBP1-related disorder, please get in touch with our team.

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Find out more about STXBP1-related disorder

STXBP1-related disorder is a rare condition, so specialist organisations can be a valuable source of information and support for families.

STXBP1 Foundation provides information, resources and support for individuals and families affected by STXBP1-related disorders.

We also recommend discussing any questions about diagnosis, seizures, development or medical management with the individual's healthcare team.