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Spina bifida (myelodysplasia or myelomenigocele)

What is it?

Spina bifida is a neonatal condition in which a region of the spinal column, usually in the lower spine, undergoes abnormal growth during fetal development, creating a defect in the protective bony encasement that normally surrounds the spinal cord. As a result, children born with this condition have varying degrees of damage to the spinal cord, causing neurological abnormalities that affect the growth and function of the lower extremities. There are several types including spina bifida occulta, myelodysplasia and myelomeningocele.

What causes it?

When the spine is being formed in utero the area where the future spinal column will be fails to form correctly and therefore has a gap in its bony surface, which exposes the future spinal cord underneath to potential injury.  For spina bifida patients, this injury often results in destruction of some of the cells at the level of the spinal defect.   Because the normal signals sent from the brain down to the extremities and from the extremities up to the brain must pass through this injured area, the signals get disrupted or interrupted, causing spasticity and/or paralysis.

How is it diagnosed?

It is usually diagnosed by prenatal ultrasound or amniocentesis. When the condition is less severe and is not evident on ultrasound, it can usually be made at or around the time of birth, if not from visual inspection of the spinal region, then from neonatal physical exams that may reveal paralysis, spasticity, or a palpable defect in the vertebral column.

A range of clinical effects, or symptoms, may result from spina bifida, but among the children being seen by orthopaedic surgeons, symptoms most often include lower extremity paralysis, spasticity, or some degree of both.

How is it treated?

Treatment of spina bifida depends on the level of the spinal column that is affected by the condition and the resulting deficits and level of functionality that exist.

Treatment focuses on preventing or minimizing deformities and maximizing your child’s capabilities at home and in the community.

Because most patients have at least some regions of their legs that lack sensation (from paralysis), skin sores and ulcers can arise due to pressure on the skin that goes undetected.   Prevention of such ulcers involves educating children at a young age about the causes, proper hygiene, and how to perform daily skin inspections.

One important concept in the treatment of the young child is that of ambulation or walking. Infants and young children should be encouraged and assisted in meeting the same developmental milestones as that of non-affected children, such as sitting at around 6 months, standing at around 10 months, and walking by 12 to 15 months. Depending on the child’s general neurologic status, the presence of any major brain conditions, their sensory awareness and balance, and the presence of spasticity in the extremities, different patients will have varying degrees of success with the challenge of ambulation and general mobility. As a child grows and gains, walking can become increasingly difficult and more fatiguing, as more energy is expended to carry the weight. However, research suggests that virtually all children benefit from trying their best to achieve normal physical activity at a young age.

Despite the fact that in adolescence or adulthood, a patient’s condition will likely worsen and require bracing, crutches, or a wheelchair, early ambulation is critical in preventing other orthopaedic conditions, such as clubfoot or contractures in the leg muscles, and maximizing cognitive development and basic motor skills.

Orthopaedic treatment designed to assist ambulation may consist of bracing, as well as stretching or surgical correction of contractures, which may be necessary to initiate bracing. Orthotics, or braces, for spina bifida patients are designed to help stabilize unstable or weak joints, to decrease the chance of formation of contractures, and to assist in a child’s posture and general stability of the lower extremities.

A variety of surgical operations are also employed by orthopaedic surgeons for corrections of bony deformities or muscle imbalances as a result of spina bifida. Among the most common are spinal surgeries, such as operations for scoliosis or kyphosis, which are common in children with thoracic or high spinal paralysis. When surgery is recommended or pursued, it is done so because it has the best chance of drastically improving a child’s mobility and improving a patient’s quality of life.

Fractures are more common than normal in spina bifida patients because the bones become weaker from inactivity and may lead to a condition called osteopenia, in which there is decreased storage of calcium in the bones. Because fractures are most common following surgical operations, early weight-bearing activity in the post-operative period and the use of braces, rather than casts, whenever possible, are usually quite beneficial for fracture prevention.


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