Physical Therapy for Angelman Syndrome

Physical therapy (PT) is typically performed by physical therapists, also called physiotherapists.  The consensus guidelines recommend physical therapy begin at diagnosis (if not earlier) and continue throughout the lifespan for individuals living with AS.    

The PT experts who collaborated on the consensus statement for AS also developed a supplemental summary table for physical therapy in AS.  This table is meant for health care providers, and it may be helpful to share with your loved one’s PT.  The information below is based on the supplemental table and consensus guidelines. 

Individuals living with AS are typically slower to meet motor milestones such as sitting, rolling, and walking independently.  In addition, individuals living with AS may have low muscle tone (hypotonia).  As individuals living with AS age, they may develop tightness in some joints, which may progress to contractures, where a joint no longer has its normal range of motion.   Ataxia, difficulty with balance, is common throughout the lifespan of individuals living with AS.  Scoliosis is also common, especially after puberty.   

Physical therapy can potentially help address the issues described above.  The goals of physical therapy in AS are individualized, depending on the specific person and the family, but typically include improving mobility and motor skills, preventing orthopedic complications, and enhancing balance and coordination.    

Orthotics and Equipment 

At the time of diagnosis and throughout the life, physical therapy for AS should include evaluation for orthotics.  Orthotics are devices worn externally to support, align, or protect specific parts of the body, such as feet, ankles, or knees. A common type of orthotics is ankle-foot orthotics (AFOs).   

Physical therapists may also recommend equipment to help with strengthening or mobility. This can include a stander, a gait-trainer, or a reverse-walker.    

Aqua therapy, Hippotherapy, and other specialized therapies 

Aqua therapy 

Per the consensus guidelines, aqua therapy (hydrotherapy, also called pool or water therapy) should also be considered if available, given that many individuals living with AS enjoy water and that water can provide an ideal environment for improving strength while enhancing stability and supporting joints.   

Hippotherapy 

Hippotherapy (horse therapy) may also be beneficial in AS, as it can provide benefits for gross (large muscle) motor function, balance, posture, and overall core strength. 

Intensives 

Intensives are physical therapy programs that consist of high-frequency, high-intensity therapy.  For example, an intensive might include 3-6 hours of therapy per day, 5 days a week, for 2-4 weeks.  An intensive may include specialized equipment such as a suit.  One example of an intensive that has been used in AS is SPIDER (Strengthening Program of Intensive Developmental Activities for Reaching Maximal Potential).    

Orthopedic Specialist 

Referral to an orthopedic specialist is recommended as needed for spine, hip, and foot/ankle management.  Hips X-rays may be needed, especially in early childhood if individuals living with AS are not walking.  Spine X-rays may be needed throughout life to evaluate for and monitor scoliosis.  

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