Spina Bifida

What are the symptoms of spina bifida?

The symptoms of spina bifida vary widely depending on the type of spina bifida a child has.

Many children with spina bifida don’t have any symptoms or only have mild symptoms. These may include:

• a small clump of hair or a dimple or birthmark on the spine
• chronic constipation with no other cause
• chronic urinary or bowel incontinence with no other cause
• chronic urinary tract infections
• leg or back pain
• limping
• toe walking
• scoliosis

Other children have symptoms that are noticeable at birth, such as an opening in the spine or a sac that protrudes from the spine.

What are the causes of spina bifida?

The cause of spina bifida remains unknown. It is associated with genetic, nutritional, and environmental factors. Research studies indicate that a key factor may be a lack of folic acid — a common B vitamin — in a pregnant woman’s diet. This is one reason why a daily multi-vitamin that contains folic acid is recommended for all women of child-bearing age.

More than 90 percent of cases occur without a prior family history. However, if one parent has spina bifida, there’s a one in 25 (4 percent) chance of passing spina bifida to your baby. If you already have a child with spina bifida, there’s a one in 25 (4 percent) chance of having another baby with the condition. If a previous child or family member has a neural tube defect, speak with your doctor about taking a daily folic acid supplement.

What are the different types of spina bifida?

There are four major types of spina bifida:

• Spina bifida occulta (hidden). This is mildest and most common form of the condition. It occurs when one or more of the bones in the spine (vertebrae) don’t properly form. As many as 10 to 20 percent of all people have this type of spina bifida. Although it rarely causes symptoms or disability, a small percentage of people do have symptoms. In some cases, these symptoms can be severe.
• Closed neural tube defect. This is a type of spina bifida in which there are malformations of fat, bone, or membranes on the spinal cord. Most children with this type of spina bifida have few or no symptoms. In some cases, it can cause difficulty walking or urinary and bowel dysfunction.
• Meningocele. This is the least common type of spina bifida. It occurs when the membranes that cover the brain and spinal cord protrude through an opening in the spinal column. Some children with meningocele have only minor symptoms, while others have more serious problems with walking and bladder and bowel function.
• Myelomeningocele. This is the most severe form of spina bifida. It occurs when the backbone and spinal cord fail to close and the spinal cord does not develop normally. Children with this type are often fully or partially paralyzed, have difficulty with bladder and bowel control, have orthopedic problems, and may have inguinal drainage of cerebrospinal fluid (hydrocephalus). Cognitive challenges are also common.

What are the associated medical conditions found with spina bifida?

The complications of spina bifida vary widely, depending on the type and its severity.

Associated health problems can include:

• hydrocephalus
• impaired cognitive development and learning disabilities
• Chiari malformation (type II)
• orthopedic (bone) problems, such as scoliosis, kyphosis, hip dislocation, joint deformities, and clubfoot
• nervous system problems, such as seizures, weakness in the legs or feet, back pain or leg pain
• bladder or bowel problems
• tethered spinal cord
• kidney infections or kidney damage

Watch: Learn about spina bifida

View more videos at this link.

How is spina bifida diagnosed?

In some cases, spina bifida may be diagnosed before birth with an alpha-fetoprotein (AFP) blood test or through imaging tests such as prenatal ultrasound or magnetic resonance imaging (MRI).

When spina bifida is suspected in babies or older children, it may be diagnosed using a spinal ultrasound or MRI.

What are the treatment options for spina bifida?

Treatment for spina bifida varies greatly depending on the type of spina bifida the child has, and his or her specific symptoms. In general, children with more severe types of spina bifida need more treatment than those with less severe types.

Possible treatments a child may need include:

• physical therapy (PT) or occupational therapy (OT)
• an Individualized Education Program (IEP) for cognitive problems
• surgery for a tethered spinal cord
• an ETV/CPC procedure or shunting for hydrocephalus
• bladder augmentation
• reconstructive bladder surgery
• bowel surgery
• bracing or orthopedic surgery
• spine surgery for scoliosis

How we care for spina bifida

At the Boston Children’s Hospital Spina Bifida and Congenital Spinal Anomalies Center, our team works together to develop a personalized and coordinated care plan for your child. We provide age-appropriate care at each developmental stage. Our clinicians are all dedicated to spina bifida care and have many years of experience in treating children of all ages with this complex condition.

We are one of few centers in the world that offers complete coordination of care among all specialty areas. Our two dedicated nurse practitioners and administrative staff will coordinate all of your child’s care at each visit — from clinic visits to testing to surgery.

Boston Children’s Hospital is also the only spina bifida center in New England that provides transition care for adult spina bifida.

Our areas of innovation for spina bifida

Our clinicians are actively involved in research to develop new therapies to mitigate bladder deterioration and finding biomarkers to help diagnose spina bifida earlier as well as biomarkers for kidney and bladder deterioration. Our center has pioneered several innovative surgeries for spina bifida patients, including ETV/CPC, spinal cord detethering, and robotic bladder augmentation.

Our Urodynamics Program was one of the first of its kind in the world and is responsible for many of the innovations in pediatric urodynamics today. Our program uses advanced technology to provide a unique and comprehensive understanding of bladder and nerve function, which we use to guide treatment.

If you have spina bifida, you’re not alone: Every year, more than 1,600 babies are born with this condition. But teens have very different needs from babies — and you’ve probably got a lot of questions about living with spina bifida as you grow up.

The clinicians in the Spina Bifida and Congenital Spinal Anomalies Center at Boston Children’s Hospital have answers. Whether you need advice on finding the right shoes or transitioning into adult care, these resources can help.

Living with spina bifida: Sherlock's answers

Have a question about how to live your best life with spina bifida? Check out our growing video library of quick answers from Rebecca Sherlock, a nurse practitioner who specializes in treating children with spina bifida and other neuromuscular conditions. She has developed wellness and self-esteem programs seeking to empower teens and young adults with spina bifida.

Let’s talk spina bifida!

Submit your question about living with spina bifida or share your own tips and tricks! Although we can’t respond personally, Rebecca will try to address the most popular lifestyle questions in an upcoming video.

Looking for more information or support?

The transition to adulthood

Becoming an adult can be both exciting and scary, especially if you’re living with a chronic medical condition like spina bifida. At the Spina Bifida and Congenital Spinal Anomalies Center, we help you and your family identify life goals and then work toward them, whether you’re focused on transitioning to college or need ongoing support.

After you turn 14, our neuropsychologist and social worker will meet yearly with you and your family to assess and discuss your ability to take charge of your own care.

• assuming responsibility for their health needs
• selecting appropriate educational programs
• evaluating job skills and possible vocational supports
• advocating for services
• building independent functioning and self-management skills
• developing healthy relationships
• helping families navigate the guardianship process

Helpful external websites

• Disabled Sports USA
• Teens on the Move: An Exercise Video for Teens with Spina Bifida
• Paralympic Sports