Management

There is currently no targeted treatment available, management is supportive, and symptom based. Regular examinations and surveillance are recommended to maximize function and reduce complications.

Common Concerns and Support Strategies
Musculoskeletal
●    Physical and occupational therapy (PT/OT) can help improve movement, strength, balance, and coordination.
●    Adaptive equipment (like braces or walkers) may support mobility and daily tasks.

Neurodevelopmental
●    Early intervention programs can help with skills like attention, behavior, and learning.
●    An individualized learning plan should be created to support the child’s unique needs.

Speech and Communication
●    Speech therapy can help improve talking, understanding language, or using alternative ways to communicate.
●    Occupational therapy may also help with feeding or mouth movement issues.

Respiratory
●    A lung specialist (pulmonologist) may help manage breathing problems and treat lung infections.
●    Support might include breathing treatments or monitoring.

Dysphagia
●    Changing the texture of food or drinks can make swallowing safer and prevent choking or aspiration.
●    In some cases, feeding tubes (like a nasogastric or gastrostomy tube) may be used if eating by mouth isn’t safe or effective.

Epilepsy
●    A neurologist can help manage seizures with medications or other treatments.
●    Regular monitoring and an emergency plan are often needed.