Scoliosis
Scoliosis is frequently reported in individuals with a Chromosome 8p Disorder.
Understanding Scoliosis
Scoliosis is a side-to-side curvature of the spine.
Symptoms of Scoliosis Include:
- Uneven shoulders
- One shoulder blade may appear more prominent than the other
- Uneven waist
- One hip higher than the other
- Constant leaning to one side
- One side of the rib cage jutting forward
- A prominence on one side of the back when bending forward
- Uneven leg length
8p Hero Insights
25% of 8p Heroes in the Chromosome 8p Registry report Scoliosis.
Scoliosis in patients with a chromosome 8p disorder tends to progress as they age.
Scoliosis is reported amongst all 8p Genotypes.
Management and Care Recommendations
Screening
Scoliosis screening should be a routine part of an 8p Hero’s wellness visit. During the screening, the provider will ask the patient to stand tall and then bend forward as if touching their toes. The provider will assess the patient’s posture, alignment, and spinal curvatures.
If a curve is observed, the provider may use a scoliometer to measure its degree. A curve of more than five degrees on the scoliometer may indicate scoliosis.
X-Ray
If scoliosis is detected during a screening, the provider may order an X-ray to determine the severity of the curve. They will assess the following:
- Shape of the curve: Whether it forms an “S” or “C” shape
- Direction of the curve: Whether the spine curves to the left, right, or both
- Location of the curve: Whether the curve is in the upper spine, lower spine, or both
- Degree of the curve: Whether the curve is mild, moderate, or severe
Treatment
The severity and location of the curve will guide treatment. Providers should follow standard practices for managing scoliosis in individuals with a chromosome 8p disorder:
Observation/Monitoring: Patients with a curve less than 25 degrees are typically monitored at their wellness visits. Scoliosis has the potential to worsen as young children grow. Physical therapy is recommended as a treatment option.
Bracing/Casting: Patients with a curve between 25 and 45 degrees may require bracing to manage their scoliosis. A scoliosis brace is custom-designed for the patient’s specific curve and is used to correct the curve or prevent it from worsening. In some cases, a provider may recommend casting as an alternative to bracing. Like a brace, the cast is intended to prevent further curvature of the spine and is typically changed every two to three months.
Surgery: Patients with a curve over 45 degrees may require surgical intervention.
- Spinal fusion surgery is a common treatment for severe scoliosis. This procedure uses metal rods, hooks, screws, and wires to straighten the spine and stabilize it to prevent further abnormal curving. Over the next 6 to 12 months, the spine gradually fuses, similar to the healing process of a broken bone. During this time, the child may need to wear a brace to support the healing process.
- Growing rods are another surgical option for controlling spinal curvature as a child grows. These temporary implants are attached to the spine. Approximately every six months, a surgeon lengthens the rods, allowing the child’s spine to continue growing.
