Angelman syndrome is a rare genetic neurological disorder characterized by severe developmental delays, loss of muscle tone, learning disabilities, and speech difficulties, among other symptoms.
The abnormal sideways curvature of the spine, or scoliosis, is frequently found in Angelman patients. Scoliosis is reported in about 20% of children and 50% of adults with the disease.
Diagnosis of scoliosis
Radiological imaging techniques, such as an X-ray, can be used to diagnose and monitor scoliosis. These are usually performed during a visit to a spinal clinic.
Symptoms of mild scoliosis should be closely monitored because they often worsen over time, and the progression is rapid, especially in early childhood and during adolescence.
Treatment and management
Practices that maintain good posture and seating should be adopted in early childhood to prevent or delay the occurrence of scoliosis. Vitamin D is important for bone growth and strength. Adequate levels of vitamin D can be maintained with the use of supplements. Please note that a doctor must be consulted before using any supplements.
Mild scoliosis is typically managed with physiotherapy. A trained physiotherapist can assess the patient and develop exercise routines to strengthen the muscles supporting the spine. Occupational therapists and physiotherapists can also recommend the use of braces (or casts for infants) and other aids and adaptations to manage mild scoliosis.
As scoliosis progresses, it can be disabling. Prolonged immobility can cause a drop in bone density that increases the risk of fractures. The use of assistive devices, such as canes or wheelchairs, may be recommended in such cases.
A significant degree of spinal curvature can cause severe pain, as well as breathing and heart problems. Severe scoliosis may require surgical intervention. A study reports that spinal fusion surgery to correct such scoliosis in children with Angelman syndrome lessened the pain and the frequency of respiratory problems, helped to minimize hospital visits, and led to small improvements in activity levels. Scoliosis in those without surgery in the study continued to progress.
Last updated: Sept. 15, 2019.
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