Spina bifida

Spina bifida is a complex condition that in most cases, is likely caused by the interaction of multiple genetic and environmental factors (called multifactorial inheritance). Some of these factors have been identified, but many remain unknown.

Changes in any of many genes may influence the risk of spina bifida. The best- studied of these genes is MTHFR, which provides instructions for making the B-vitamin folate (also called folic acid, or vitamin B9). Maternal folate deficiency increases the risk to have a baby with spina bifida, and women who take folic acid supplements before and during early pregnancy are much less likely to have a baby with spina bifida.

Some cases of spina bifida may be associated with chromosome abnormalities, or fetal exposure to teratogens. Other possible risk factors for spina bifida include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy, and the use of certain anti-seizure medications during pregnancy. However, it is unclear how these factors may influence the risk of spina bifida.

Early management of bowel function for individuals with spina bifida varies depending on the severity of nerve damage in the gastrointestinal tract, but typically begins with avoiding constipation with adequate fiber and fluids. Other strategies that might be utilized include but are not limited to:

• Setting a schedule and time for bowel movements
• Use of assistance to stimulate the bowel including suppositories and digital stimulation
• Use of Sodium phosphate enema
• Manual removal
• Surgery to create an opening outside the body to the digestive tract (ostomy)
• Use of Antegrade colonic enema

The management of bladder (urinary) concerns for individuals with spina bifida focuses on early preventative treatment to reduce the risk of kidney damage. The process varies depending on the severity of bladder dysfunction, but usually begins with insertion of a long, thin tube to drain urine out of the bladder (clean intermittent catheterization), anticholinergic medications to ensure complete emptying of the bladder, and antibiotics. If the clean intermittent catheterization is not successful, a vesicostomy may be performed. This involves creating an opening from the bladder to the abdomen just below the belly button. This allows the urine to drain away from the bladder. Other options that may be utilized depending on the success of early management strategies include:

• Medication use (for example, Oxybutynin) to lower bladder filling pressure, increase bladder capacity, and prevent leaking between emptying
• Stimulation of the nerves in the bladder through transurethral electrical bladder stimulation (TEBS)
• Injection of various agents such as Botulinum toxin (Botox) into the bladder to paralyze the bladder muscles and increase bladder capacity

Various surgical techniques may also be utilized when all other measures fail. This includes procedures such as augmentation cystoplasty in which a segment of the gastrointestinal (GI) tract is connected to the bladder and procedures designed to increase bladder outlet resistance such as bladder neck reconstruction, fascial sling, bladder neck suspension, and artificial sphincter implantation.

The Spina Bifida Association provides more information on Urologic Care and Management

Treatment for spina bifida usually involves a team of specialists and varies depending on the severity. Mild cases may not require treatment. However, the majority of children with spina bifida are treated shortly after birth to decrease the risk of infection. Standard treatment includes antibiotics, surgery to close the opening in the spine, and placement of a ventriculoperitoneal shunt to manage hydrocephalus. While surgery may prevent worsening of symptoms, it cannot restore lost function. In some cases diagnosed during pregnancy, in-utero fetal surgery may be an option. In some cases, the condition is life-threatening and is not treatable.

Depending on the extent of spinal cord involvement, treatment may also include management of motility (movement), development, bladder, and bowel concerns. Weakness or paralysis of the feet and legs might be addressed with occupational and physical therapy, corrective shoes, braces, crutches, or other devices. Long-term physical, occupational, and/or speech therapy may be needed.

In 1994, doctors began trying out various methods for closing spina bifida defects while the baby is still in the mother's womb. Since that time, many improvements have been made in the procedure. It is still not know, however, whether it is better to operate on a baby with spina bifida before or after it is born. A research study called Management of Myelomeningocele Study (MOMS) is designed to answer that question. The National Institute of Child Health and Human Development (NICHD), a part of The National Institutes of Health (NIH), has funded this study to compare how babies who have prenatal surgery do compared to those who have postnatal surgery. MOMS is a research study designed to compare two approaches to the treatment of babies with spina bifida: surgery before birth (prenatal or fetal surgery) and surgery after birth (postnatal surgery). To learn more about this research study, visit the MOMS website.