Angelman Syndrome

Angelman Syndrome

What is Angelman syndrome?

Angelman syndrome (AS) is a rare genetic neurological condition that affects the development and function of the nervous system. It can affect movement, balance, coordination, communication, learning, sleep and daily activities.

Angelman syndrome is caused by a change affecting the UBE3A gene on chromosome 15. In certain areas of the brain, the UBE3A gene inherited from the mother is normally the active copy. When this maternal copy is missing or not functioning correctly, it can affect neurological development.

Angelman syndrome affects each person differently. Many children experience developmental delay, difficulties with movement and balance, limited speech and seizures, although the severity and combination of symptoms can vary considerably.

When do signs of Angelman syndrome appear?

Developmental differences may become noticeable during infancy or early childhood. A child may take longer to sit, crawl, stand or walk, or may develop less babbling and communication than expected.

Some children may initially appear to be developing typically before delays become more noticeable. Angelman syndrome is usually diagnosed through genetic testing alongside developmental and neurological assessment.

What causes Angelman syndrome?

Angelman syndrome is caused by a genetic change affecting the UBE3A gene or its activity in the brain.

In most cases, Angelman syndrome is not inherited from either parent and occurs because of a genetic change that happens by chance. There are several different genetic mechanisms that can result in Angelman syndrome, including:

• A deletion involving the maternal chromosome 15 region containing UBE3A

• Paternal uniparental disomy (UPD), where both copies of chromosome 15 are inherited from the father

• A change (variant) in the UBE3A gene

• An imprinting centre abnormality

• Less commonly, mosaic or other genetic mechanisms

The exact genetic cause can influence the way Angelman syndrome presents. A clinical genetics team can provide individualised information about genetic testing, inheritance and recurrence risk.

Who does Angelman syndrome affect?

Angelman syndrome can affect people of all sexes and ethnic backgrounds.

It is usually identified during infancy or early childhood when developmental differences become apparent. Common reasons for further investigation can include:

• Delayed sitting, standing or walking

• Limited or absent spoken language

• Difficulties with balance and coordination

• Developmental delay

• Seizures

• Feeding difficulties

• Sleep difficulties

Because some features can overlap with other developmental or neurological conditions, genetic testing is important when Angelman syndrome is suspected.

How common is Angelman syndrome?

Angelman syndrome is rare. Estimates vary between sources, and it is thought to affect approximately 1 in 12,000–20,000 people.

Because Angelman syndrome shares some features with other developmental and neurological conditions, diagnosis can sometimes take time. Increased awareness and access to genetic testing have helped more people receive an accurate diagnosis.

What are the symptoms of Angelman syndrome?

Angelman syndrome can affect many aspects of development and everyday life. Common features may include:

Movement and physical development

• Delayed sitting, standing and walking

• Poor balance and coordination

• Unsteady or ataxic movement

• Difficulties with motor planning

• Reduced stability when walking or changing direction

• Frequent falls

• Differences in walking pattern

• Reduced muscle tone, particularly during early development

• Stiffness or changes in muscle tone in some individuals

Communication and learning

• Delayed speech or minimal spoken language

• Difficulties with expressive communication

• Stronger understanding of language than ability to speak in some individuals

• Intellectual disability

• Difficulties with attention, learning and motor planning

Other features

• Seizures

• Sleep disturbance

• Feeding and swallowing difficulties

• Gastrointestinal difficulties

• Changes in behaviour or sensory processing

• Scoliosis or other musculoskeletal changes in some individuals

Many people with Angelman syndrome have a characteristically happy or excitable demeanour, including frequent smiling or laughter. However, it is important to remember that people with Angelman syndrome have a wide range of personalities, emotions and individual needs.

How can Angelman syndrome affect movement and independence?

Movement difficulties can have a significant effect on a child's ability to participate in everyday activities.

A child may find it difficult to maintain their balance while standing or walking, move between positions, climb stairs, get up from the floor or take part in playground and sporting activities.

As children grow, changes in muscle tone, balance, posture, coordination and skeletal alignment may affect their mobility and physical independence.

Physiotherapy can help families understand these changes and develop strategies that support safe movement, participation and independence throughout different stages of life.

Can physiotherapy help with Angelman syndrome?

Yes. Physiotherapy can play an important role in supporting children and adults with Angelman syndrome.

Physiotherapy does not treat the underlying genetic cause of Angelman syndrome, but it can help address the movement and physical challenges associated with the condition.

Treatment may focus on:

Gross motor development

For younger children, physiotherapy can support skills such as:

• Rolling

• Sitting

• Crawling

• Pulling to stand

• Standing

• Walking

• Transferring between positions

Activities can be incorporated into play so that children are developing movement skills while engaging in activities that are meaningful and enjoyable.

Balance and coordination

Physiotherapy can help develop balance and coordination through activities that challenge:

• Standing balance

• Weight shifting

• Reaching

• Stepping

• Changing direction

• Walking over different surfaces

• Turning and stopping safely

Strength and physical conditioning

Strength and conditioning can support functional activities such as standing, walking, transfers, stairs and getting up from the floor.

Exercises are selected and progressed according to the individual's abilities, fatigue levels, movement pattern and goals.

Walking and mobility

Physiotherapy may assess walking pattern, balance, endurance and safety and can support the use of mobility aids where appropriate.

This may include working on:

• Walking quality and efficiency

• Endurance

• Changes of direction

• Uneven surfaces

• Stairs

• Community mobility

• Confidence when moving

Posture, flexibility and musculoskeletal health

Physiotherapy can monitor posture, joint movement, muscle length and changes in movement over time.

Where appropriate, stretching, positioning, orthoses or other strategies may be incorporated into an individual's programme to support comfort, movement and function.

Falls prevention

Balance and coordination difficulties can increase the risk of falls. Physiotherapy can help develop strategies to improve balance, safe movement and confidence while also considering the individual's environment and everyday activities.

Communication and participation

For people with limited speech, physiotherapy can use movement, visual cues, demonstrations and alternative ways of communicating to support participation during sessions.

Working closely with parents, carers, schools and other professionals can help strategies carry over into everyday life.

Hydrotherapy for Angelman syndrome

Hydrotherapy is physiotherapy that takes place in a heated pool and can be particularly useful for people who find land-based movement difficult.

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

Hydrotherapy may be used to support:

• Movement and mobility

• Strength

• Balance and coordination

• Range of movement

• Walking and stepping

• Cardiovascular fitness and exercise tolerance

• Confidence with movement

The warmth of the water may also help some people feel more comfortable while exercising.

At Positive Steps, hydrotherapy activities are adapted to the individual's abilities, sensory preferences, fatigue levels and goals. Not everyone with Angelman syndrome will benefit from hydrotherapy, so suitability is considered as part of the assessment.

Specialist equipment and technology

At Positive Steps, specialist equipment may be incorporated into physiotherapy when it is appropriate for the individual's needs and goals.

This may include:

EzyGain / EMA treadmill

Supported treadmill walking can provide opportunities to practise stepping and walking while allowing the physiotherapist to adjust the level of support and challenge.

MOTOmed

MOTOmed can provide assisted or active repetitive movement of the arms or legs. This can be useful when independent cycling movement is difficult and can encourage active participation and repetition.

BlazePods

BlazePods can be incorporated into interactive activities to work on reaction time, balance, coordination, reaching and movement planning.

Hypervibe

Whole-body vibration may be incorporated into a wider exercise programme where clinically appropriate, for example to support muscle activation, weight-bearing and functional exercise.

Equipment is not used simply because it is available. Each intervention is selected according to the person's age, abilities, health, fatigue, movement presentation and goals.

A personalised approach to physiotherapy

There is no single physiotherapy programme for Angelman syndrome.

At Positive Steps, we consider the individual as a whole and develop therapy around what they want and need to achieve.

For a young child, this might mean developing the skills needed to sit, stand and walk. For an older child, therapy may focus on balance, strength, running, playground activities, school participation or confidence.

For an adult, goals may include maintaining mobility, managing fatigue, staying physically active, preventing falls or supporting independence with everyday activities.

We aim to make therapy purposeful and enjoyable, using activities that have meaning in everyday life.

Working with the wider team

People with Angelman syndrome may benefit from support from a range of healthcare and education professionals.

Depending on individual needs, this may include:

• Neurologists

• Paediatricians

• Genetic specialists

• Occupational therapists

• Speech and language therapists

• Dietitians

• Orthotists

• Specialist nurses

• Psychologists

• Education and school teams

Physiotherapy works alongside these professionals to support movement, physical function and participation.

How Positive Steps can help

Positive Steps Physiotherapy supports children and adults with neurological and developmental conditions.

Our aim is to give every person the freedom to move better and continue doing what they love.

We take an individualised approach, considering each person's abilities, challenges, environment and goals. Whether that means taking first steps, improving balance, becoming more confident at school, maintaining mobility or staying active as an adult, we focus on what can be done.

Our physiotherapy may include:

• Gross motor development

• Balance and coordination

• Strength and conditioning

• Walking and gait

• Falls prevention

• Postural management

• Flexibility and range of movement

• Hydrotherapy

• Specialist equipment

• Family and carer education

• Strategies to support participation at home, school and in the community

Our goals may include:

• Improving functional mobility

• Supporting sitting, standing, walking and transfers

• Developing balance and coordination

• Supporting safe participation in everyday activities

• Improving strength and physical endurance

• Reducing falls risk

• Maintaining movement and flexibility

• Supporting independence

• Building confidence with physical activity

• Helping families understand how to support movement at home

• Supporting quality of life and participation

We continuously explore effective and innovative ways to support our clients while ensuring that therapy remains individualised, purposeful and clinically appropriate.

Always finding what can be done. Together, we find new ways to thrive.

Find out more about Angelman syndrome

Angelman syndrome is a complex genetic condition, and individual needs can vary significantly.

For further information and support, we recommend speaking with your child's medical or specialist team and using reputable Angelman syndrome organisations such as:

• AngelmanUK

• Angelman Syndrome Foundation

• Angelman Syndrome Association Australia

• NHS

If you are concerned about your child's development, movement, balance or mobility, speak to your GP, paediatrician or healthcare team for appropriate assessment and referral.