Medicines for Spina bifida

What it is

Spina bifida is a condition, present from birth, in which the spine and spinal cord do not develop properly in the womb, leaving a gap or fault in the spine. It is a type of "neural tube defect" — the neural tube is the structure in the developing baby that becomes the brain and spinal cord, and spina bifida results when part of it does not close fully early in pregnancy. Spina bifida varies greatly in severity, and there are different types. The mildest and most common type (spina bifida occulta) is a minor gap in the spine that often causes no problems or symptoms at all, and many people have it without knowing. More significant types (such as meningocele and, most significantly, myelomeningocele — the most serious form) involve the spinal cord and nerves being affected, and can cause a range of effects, depending on the type and the level of the spine involved. In the more significant forms, effects can include: weakness or paralysis of the legs and problems with movement; loss of sensation; problems with bladder and bowel control; a build-up of fluid on the brain (hydrocephalus), which often occurs with the more serious form and may need treatment; and, in some, effects on learning or other functions. The range is very wide — from no effect at all (in the mildest form) to significant physical disability (in the most serious form). Spina bifida is often detected during pregnancy (for example on ultrasound scans), which allows planning and support, and, where it is significant, care begins early, often including surgery after birth (and, in some cases, surgery during pregnancy) and ongoing specialist and multidisciplinary care. A very important point is prevention: taking folic acid (a vitamin) before conception and in early pregnancy substantially reduces the risk of neural tube defects such as spina bifida, which is why folic acid supplements are recommended for women planning a pregnancy and in early pregnancy, and why some foods are fortified with it. The key messages are that spina bifida is a neural tube defect present from birth with effects ranging from none to significant, that the more significant forms need specialist, multidisciplinary care, and that folic acid before and in early pregnancy substantially reduces the risk.

How it is treated

The approach to spina bifida depends greatly on the type and severity, ranging from no treatment needed (for the mildest form) to lifelong specialist, multidisciplinary care (for the more significant forms), with prevention through folic acid being very important. For the mildest and most common type (spina bifida occulta), which often causes no problems, no treatment is usually needed, and many people are unaffected. For the more significant forms (such as myelomeningocele), care is complex and involves a team of specialists, and often begins before or soon after birth: spina bifida is frequently detected during pregnancy (on scans), which allows planning, information, and support for the family, and decisions about care; after birth, surgery is usually needed (often soon after birth) to close the defect and protect the spinal cord and nerves, and, in some specialist settings, surgery during pregnancy (fetal surgery) may be an option in selected cases. Ongoing care for significant spina bifida is lifelong and multidisciplinary, addressing the various possible effects — for example, managing hydrocephalus (often with a shunt) if present; physiotherapy, mobility aids, and support for movement and any weakness or paralysis; management of bladder and bowel function (which is often affected, and is an important aspect of care); orthopaedic care for the spine, hips, and legs; skin care (as reduced sensation can affect this); support for any learning or developmental needs; and support for the person and family across health, education, daily living, and independence. The aims are to manage the effects, prevent complications, maximise function and independence, and support a good quality of life, and with modern care, many people with spina bifida live full lives, with support tailored to their needs. Prevention is a key public health message: because taking folic acid before conception and in early pregnancy substantially reduces the risk of neural tube defects, folic acid supplements are recommended for women who are planning a pregnancy or could become pregnant and in early pregnancy (and higher doses for those at higher risk, on medical advice), and folic acid fortification of foods also helps. The reassuring and important messages are that spina bifida ranges from causing no problems (the mildest form) to needing lifelong specialist care (the more significant forms), that multidisciplinary care helps people with significant spina bifida manage the effects and live full lives, and that folic acid before and in early pregnancy substantially reduces the risk — so taking folic acid when planning a pregnancy is strongly recommended.