What are the other Names for this Condition? (Also known as/Synonyms)

• Cleft Spine
• Rachischisis
• Split Spine

What is Spina Bifida? (Definition/Background Information)

• Spina Bifida is a common neural tube defect, in which the neural tube does not completely close during embryonic development, leading to a portion of the spinal cord to be exposed through an opening in the spine. The neural tube is the embryonic structure that ultimately develops into the brain and spinal cord
• The disorder may be classified into three major types, depending on the extent of defect:
  • Spina bifida occulta - in which there is minimal or “hidden” defect
  • Meningocele - the opening in the spinal cord may be covered by a fluid-filled sac in babies born with the condition 
  • Myelomeningocele, also known as open Spina Bifida - when the fluid-filled sac contains a part of the exposed spinal cord as well
• A combination of genetic and environmental factors play a role in the development of this spinal cord disorder
• The location and extent of the malformation determine the severity of signs and symptoms, as well as the prognosis of Spina Bifida. The symptoms may include paraplegia and hydrocephaly
• The treatment of Spina Bifida may involve a team of specialists and may involve surgery to correct the defect. The treatment may also include medications, physical therapy, and use of assistive devices, depending on the severity of the condition

Who gets Spina Bifida? (Age and Sex Distribution)

• Spina Bifida is the most common of all neural tube defects, occurring at a frequency of 1-5 affected babies in 10,000 live births
• Both male and female genders may be affected by Spina Bifida 
• The condition can occur in all races and ethnicities, although the disorder may occur at a higher frequency among certain populations. For example, in the United States, the condition is more frequent among Hispanic and African-American populations when compared to Caucasians

What are the Risk Factors for Spina Bifida? (Predisposing Factors)

In many cases, there may not be any identifiable risk factors for Spina Bifida. However, in some cases, the risk factors for Spina Bifida may include:

• A family history of neural tube defects
• Folic acid deficiency during pregnancy
• Poor glycemic control during pregnancy in women with diabetes 
• Exposure of a developing baby to teratogens
• Use of anti-convulsive agents during pregnancy
• Obesity during pregnancy
• Hyperthermia during early stages of pregnancy (such as fever or use of hot tubs)

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Spina Bifida? (Etiology)

The exact cause of Spina Bifida is not known. It is believed that a combination of genetic predisposition and environmental factors play a role in the development of this neural tube defect.

Genetic factors include:

• Mutation(s) in the MTHFR gene: The MTHFR gene codes for an enzyme methylene tetrahydrofolate reductase, involved in the synthesis of vitamin B9, also known as folic acid. A mutation in this gene can cause folic acid deficiency. There is a high correlation between folic acid deficiency during pregnancy and Spina Bifida in the child
• Chromosomal abnormalities

The environmental factors may include:

• Exposure to teratogens
• Poor glycemic control in mother during pregnancy
• Obesity in mother during pregnancy
• Exposure to anti-convulsive agents
• Exposure to high heat during pregnancy

What are the Signs and Symptoms of Spina Bifida?

The signs and symptoms of Spina Bifida depend on the subtype of the disorder (i.e., the extent of neural tube defect). It may also vary from one individual to another and may be mild or severe. The signs and symptoms of Spina Bifida may include the following:

• A birthmark or tuft of hair on skin covering the defect (particularly in Spina Bifida occulta)
• Skin conditions including blisters, calluses, and sores on legs
• Exposed spinal cord, exposing tissues and nerves
• Presence of tethered spinal cord: Usually the spinal cord floats freely in the spinal canal. In some individuals, the spinal cord is attached (called tethered spinal cord) and a surgery may be required to correct this defect
• Weakness or paralysis of lower limbs
• Poor bladder control
• Loss of bowel control
• Hydrocephalus
• Learning disability

In a majority of cases, the condition develops in the lower back; while occasionally, Spina Bifida may form at other locations on the spine (such as the upper or middle back region), or even in the neck.

How is Spina Bifida Diagnosed?

Before birth of a baby, the diagnosis of Spina Bifida may be made possible through:

• Blood test to check for levels of alpha-fetoprotein (AFP): Abnormally high levels of AFP may be indicative of a developmental problem in the fetus
• Amniocentesis to check for AFP levels in the amniotic fluid
• Ultrasound examination of a developing fetus (prenatal diagnosis)

Following birth, information from the following may be used for diagnosis: 

• Complete physical examination and a thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Spina Bifida?

The complications of Spina Bifida may include:

• Problems with proper bone growth and development, which may lead to conditions such as scoliosis
• Weakness of leg and feet muscles may lead to problems with movement
• Chiari malformation type II, in which the child has trouble with breathing and swallowing (more common in the myelomeningocele type)
• Frequent urinary tract infections in individuals with bladder control and urination issues (urinary incontinence)
• Sleep apnea (more common in myelomeningocele)
• Meningitis
• Abnormal pressure on brain tissues due to hydrocephalus, which may lead to intellectual deficiency
• Emotional and social stress 

Complications may occur with or without treatment, and in some cases, due to treatment as well, including:

• Infections at surgical site
• Shunt malfunction
• Tethered spinal cord, where the nerves of the spinal cord become tethered to the surgical scar, not allowing them to grow normally. Severe cases may affect muscle functions of the legs, bladder, and bowel

How is Spina Bifida Treated?

The treatment for Spina Bifida typically involves professionals from multiple disciplines working in a coordinated manner to provide the best possible care for an affected child. The treatment methods may include one or a combination of the following:

• Surgical correction of the condition before birth
• Surgical correction and closure of the exposed meninges after birth
• Surgery to correct tethered spinal cord, if present
• If a child has hydrocephalus (such as in myelomeningocele type of Spina Bifida), surgery to place a ventricular shunt to drain fluid from the brain to abdomen
• Physical therapy to improve muscle tone and movement
• Medication for bladder and bowel control
• Individuals, who have issues with bladder control and urination, can develop frequent bladder infections. Inserting a tube into the bladder (urinary bladder catheter insertion) can help drain urine from the urinary bladder
• In some cases, an ostomy procedure may also be performed, to help in drainage of urine and to prevent recurrent urinary tract infections
• Healthcare consultation for skin issues: Use of sunscreens, proper footwear, avoiding hot water baths and not sitting or lying in particular positions for prolonged time periods can help with skin blisters and calluses
• Use of walking aids; wheel chair for mobility
• Special education: Individuals may often require special education to help them integrate with the community
• Occupational therapy: Due to a variety of difficulties one may face, workplace accommodations and occupational therapy are beneficial
• Providing appropriate emotional and social support

How can Spina Bifida be Prevented?

In many cases, since the cause and risk factors of Spina Bifida are unknown, there are no preventative measures available.

• In some cases, the prevention of Spina Bifida may be possible through the following measures:
  • Taking folic acid supplements during pregnancy, or if necessary, even before conception (particularly if a previous pregnancy has resulted in a child born with Spina Bifida)
  • Maintaining good glycemic control
  • Consulting a healthcare provider regarding concerns about anti-convulsion medication
  • Including foods rich in folic acid in diet during pregnancy
  • Take early appropriate treatment of conditions, such as diabetes or obesity
• Active research is currently being performed to explore the possibilities for treatment and prevention of neural tube disorders such as Spina Bifida
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Spina Bifida? (Outcomes/Resolutions)

• The prognosis of Spinal Bifida is determined by the type of disorder an individual has, the severity of signs and symptoms, and responsiveness to treatment
• The outcome for individuals with Spina Bifida occulta is generally good, as they exhibit the least severe symptoms, if any
• Permanent nerve damage and paralysis of lower limbs may be caused in the meningocele and myelomeningocele subtypes, affecting one’s quality of life
• With good social, occupational, and emotional support, some of the affected individuals are able to have an improved quality of life

Additional and Relevant Useful Information for Spina Bifida:

• In the United States, about 1,500 babies are born with the condition every year
• The term Spina Bifida is derived from Latin and translates to Split (or Cleft) Spine

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/