MENINGOMYELOCELE (SPINA BIFIDA)

QUESTIONS AND ANSWERS

Types of Spina Bifida: Meningocele, Meningomyelocele, and Myeloschisis

Understanding the specific differences between these conditions can help clarify the spectrum of spina bifida:

• Meningocele: The protective membranes that cover the spinal cord (the meninges) push out through an abnormal opening in the back. The spinal cord usually remains in place, and nerve damage tends to be less severe.  Surgery is often needed to repair the defect.
• Meningomyelocele (Myelomeningocele): This most severe and commonly referred to type. Here, both the meninges and parts of the spinal cord extend through the opening in the spine.  This forms a visible sac on the baby’s back. Because the spinal cord and nerves are involved, this almost always results in more significant disabilities.
• Myeloschisis: The rarest and most severe version, myeloschisis, happens when the spinal cord remains open and exposed.  It does not have a protective sac or skin covering. This leaves neural tissue directly in contact with the environment, increasing the risk of infection and nerve damage.

Each type of spina bifida has its own set of challenges, and treatment approaches differ depending on the severity and specific features seen at birth.

How Common Is Spina Bifida Worldwide?

Spina bifida isn’t quite as rare as you might hope, but rates can vary a lot depending on where you live. On average, about 1 out of every 1,000 babies around the world is born with some form of spina bifida. However, some places see the condition much more often than others.

For example:

• In Ireland and Wales, spina bifida—specifically the myelomeningocele type—shows up more frequently, with as many as 3 to 4 out of every 1,000 births affected.
• Rates in Canada are lower, around 0.9 per 1,000 births.
• France sees a similar trend at about 0.7 per 1,000 births.
• In certain parts of the world, the numbers are even higher. South America has reported rates up to 11.7 per 1,000 births, and in the United Arab Emirates, the numbers can reach as high as 7.7 per 1,000 births.

These differences may be linked to things like genetics, nutrition (particularly folic acid intake), and access to medical care. It’s a reminder that location and lifestyle can play a big role in how common spina bifida is.

Incidence and Epidemiology of Spina Bifida and Meningomyelocele

Spina bifida, and especially its most severe form—meningomyelocele (also called myelomeningocele)—affects babies worldwide, but the risk isn’t distributed equally across all populations. On average, around 18 out of every 10,000 live births are affected by spina bifida globally.

Epidemiological patterns show notable differences based on ethnicity, geography, and even gender. For example:

• In the United States, Hispanic infants are affected at higher rates than other groups, while African-American children have lower rates of spina bifida.
• Females seem especially vulnerable, with the risk of developing meningomyelocele several times higher than in males.
• Some regions—including China, select areas of Africa, the Middle East, Thailand, and India—report higher rates overall.

Experts suggest that folic acid supplementation before and during pregnancy may play a big role in shaping these patterns. In places where folic acid intake is consistently higher, spina bifida cases tend to be fewer.  This underscores the importance of prenatal care and nutrition.

The Signs and Symptoms of Meningomyelocele

The spinal cord appears visible at birth in a newborn with meningomyelocele. A sac covering an exposed spinal cord appears on the mid to lower back. The child’s unique condition will determine the precise symptoms and their intensity. Because the brain and spinal cord are typically impacted, and the condition is frequently quite severe, with meningomyelocele, leg, bladder, and bowel dysfunction usually occurring. In some children, the ability of a very skilled doctor to regulate the bladder or bowels may not be possible. In addition, some children might have sensory loss or partial or total paralysis in their legs.  However, in other children, these functions appear only slightly impaired. Other potential symptoms include:

1. Orthopedic deformities
2. Hydrocephalus (an accumulation of fluid in the skull that causes brain swelling)
3. Chiari malformation (anatomical flaws in the brain region responsible for maintaining balance)

A kid with meningomyelocele runs the risk of getting bacterial meningitis because of the spinal cord’s exposure to the environment.

How Does Meningomyelocele Affect Learning and Cognitive Function?

• Cognitive Challenges: Children with meningomyelocele (MMC) can experience varying degrees of learning difficulties. These may include problems with attention, memory, and executive function. Issues with processing speed or problem-solving can also occur, making certain academic tasks more challenging.
• Hydrocephalus Link: Hydrocephalus—a buildup of fluid on the brain—commonly occurs alongside MMC and is present in the majority of affected infants. If not managed effectively, hydrocephalus can further complicate cognitive development and contribute to learning delays.
• Neurodevelopmental Variability: Not every child with MMC will have the same cognitive profile. Some children require special education services or additional support at school, while others perform well academically with minimal intervention.
• Associated Conditions: Additional neurological changes, such as Chiari II malformation, can contribute to developmental difficulties. These structural changes may disrupt normal brain function, impacting coordination, visual perception, and spatial skills.
• Comprehensive Evaluation and Support: Early assessment by neuropsychologists and close collaboration with educational specialists are recommended. This ensures that cognitive strengths and weaknesses are identified, and that appropriate interventions—ranging from tailored learning strategies to occupational therapy—are in place to help each child reach their full potential.

Regular monitoring and personalized educational plans, coordinated by a care team that includes neurologists, therapists, and school professionals, are crucial for supporting the learning and cognitive development of children with meningomyelocele as they navigate school and social environments.

The Vital Role of Parents and Caregivers

Parents and caregivers are central figures in the care and rehabilitation of children with meningomyelocele, not just as advocates, but as daily partners in treatment. Their involvement extends well beyond providing basic support at home; they take on the essential role of coordinating therapies, monitoring progress, and ensuring that recommended care plans are followed closely.

Education and Active Participation:
Understanding the child’s condition, potential complications, and the goals of treatment is key. Healthcare professionals work directly with families, offering guidance on wound care, mobility exercises, medication management, and the use of assistive devices. Parents and caregivers are encouraged to participate in therapy sessions, so they’re prepared to continue structured home programs and adapt daily routines for the child’s safety and comfort.

Supporting Holistic Development:
Aside from managing medical needs, families foster a nurturing environment that supports educational achievement, social engagement, and emotional resilience. Regular communication with educators, therapists, and healthcare teams ensures therapies and accommodations are coordinated across all aspects of the child’s life.

Advocacy and Long-term Planning:
Because the journey with meningomyelocele is lifelong, parents and caregivers often serve as advocates, navigating medical systems, arranging for specialized services, and seeking community resources. As children grow, families guide them in developing self-advocacy and independent living skills, gradually preparing them for adulthood.

In every stage, the dedicated partnership between families and care teams makes a significant difference in a child’s quality of life and independence.

How Does the Location of Spina Bifida on the Spine Impact Movement Difficulties?

The effects of spina bifida on movement largely depend on its position along the spine. When spina bifida occurs higher up the spine, it can lead to more pronounced movement challenges due to increased nerve and spinal cord involvement.

Key Movement Implications:

• Nerve Damage and Control: The higher the condition is on the spinal column, the greater the potential nerve damage, which can significantly affect muscle control and coordination.
• Mobility Device Dependence: Individuals may need mobility aids like crutches or wheelchairs to navigate even short distances. The necessity and type of device depend on the specific location of the nerve damage.
• Bladder and Bowel Control: Where it occurs also influences autonomic functions, making bladder and bowel management more challenging.
• Developmental Impact: In cases where there hasn’t been timely surgical intervention, the exterior manifestations, such as a spinal bulge, might be more pronounced, further impacting posture and mobility.

Movement Abilities by Level of Spinal Lesion

The degree of muscle strength and sensation varies based on the impact on the nerves, affecting a person’s ability to sit upright or maintain balance. The higher the disruption along the spine, the greater the likelihood of severe mobility issues, which highlights the importance of early diagnosis and intervention.

• Thoracic & High Lumbar Lesions: Individuals with lesions at these higher levels typically have no quadriceps function. During childhood, many can ambulate at home with specialized braces like hip-knee-ankle-foot orthoses (HKAFO) or reciprocating gait orthoses, but most (over 95%) rely primarily on manual or power wheelchairs as adults. Power wheelchairs may be necessary for those with additional challenges, such as poor cardiovascular fitness, shoulder pain, or severe spinal curvature.
• Low Lumbar Lesions: Here, quadriceps and some hamstring function is preserved, but gluteal muscles may be weak or absent. Ambulation is possible with ankle-foot orthoses (AFO) and crutches, and about 79% retain the ability to walk within their community as adults. Wheelchairs are often needed for longer distances. Notably, even a small difference in lesion level (such as between L4 and L3) can have a significant impact on walking ability.
• High Sacral Lesions: These children have limited calf muscle function and may walk with or without support, often using AFO braces. Their gait is typically marked by a “gluteus lurch,” with noticeable pelvic tilt and rotation.
• Low Sacral Lesions: Individuals with lesions at this level have good function in the calf and gluteal muscles. They generally walk without the need for orthoses, and their gait is nearly normal.

Understanding these distinctions helps families and care teams anticipate mobility needs and tailor therapy, equipment, and support as children grow.

Understanding the Pathophysiology of Meningomyelocele (MMC)

Meningomyelocele, a severe form of spina bifida, fundamentally disrupts neural tube development, particularly affecting the cranial portion. This condition leads to a cascade of changes within the central nervous system. A notable alteration is the Chiari type II malformation, characterized by structural changes in the cerebellum.

Key Features of Chiari Type II Malformation:

• Cerebellar Hypoplasia: Underdevelopment of the cerebellum, which impacts coordination and balance.
• Brainstem Descent: The lower part of the brainstem descends abnormally into the upper cervical canal, interfering with several bodily functions.

These structural anomalies alter the dynamics of cerebrospinal fluid (CSF), often causing hydrocephalus—a condition where fluid accumulates in the brain. It’s noteworthy that over 90% of infants with MMC experience hydrocephalus due to impaired CSF flow and absorption.

Additional Systemic Complications:

• Spinal Malformations: The spinal cord and surrounding structures are often misaligned or malformed, leading to varying degrees of paralysis and nervous system dysfunction.
• Hydronephrosis: Swelling of the kidneys may occur due to urine outflow obstruction.
• Cardiac Defects: Some infants may be born with heart abnormalities.
• Gastrointestinal Anomalies: The malformation can affect the digestive system function, leading to complications like constipation or bowel obstruction.

The interconnected nature of these conditions highlights the complex pathophysiology of MMC, impacting multiple systems and requiring comprehensive medical management.

Key Considerations for Providing Wheelchairs to Spina Bifida Patients

When selecting a wheelchair for individuals with spina bifida, several critical factors must be taken into account to optimize their mobility, comfort, and independence.

Assessment of Physical Needs

• Mobility Requirements: Evaluate the patient’s level of physical ability and the degree of mobility assistance needed. Spina bifida patients vary significantly in their mobility requirements.
• Growth Potential: Especially in children, choose a wheelchair that accommodates growth. It should have adjustable features to extend its use over time.
• Postural Support: Patient’s seating posture must be analyzed to prevent pressure sores and ensure spinal support. Customizable seating options can dramatically improve comfort and long-term health outcomes.

Functional and Environmental Factors

• Daily Activities: Consider how the wheelchair will be used in daily activities. Wheelchairs should be compatible with both indoor and outdoor environments, suitable for school, work, and recreation.
• Adaptability: The wheelchair should allow for the attachment of additional aids or accessories critical to personal independence.

Technical Specifications

• Manual vs. Power Wheelchair: Decide between manual and power wheelchairs depending on the patient’s physical capabilities and preferences.
• Maneuverability and Weight: Ensure the wheelchair is lightweight for easier handling, but also durable enough for frequent use. Nimble wheelchairs with excellent turning capabilities work well in tight spaces.

Psychological and Social Aspects

• Patient Preferences: Involve the patient in the selection process to address any personal preferences or concerns about stigma.
• Aesthetics and Design: A wheelchair with appealing aesthetics can improve the users’ confidence and encourage usage.

Safety and Maintenance

• Safety Features: Consider wheelchairs with safety features such as anti-tip bars and reliable brakes. This is particularly important for active patients.
• Ease of Maintenance: Opt for a model requiring minimal maintenance to ensure longevity and consistent performance.

Cost and Insurance

• Budget Considerations: Evaluate the cost against the budget, considering both initial purchase and long-term maintenance expenses.
• Insurance Coverage: Verify what models or features are covered under the patient’s insurance plan to alleviate financial burden.

These considerations ensure that the selected wheelchair will meet the comprehensive needs of spina bifida patients while promoting their independence and improving their quality of life.

What Causes Meningomyelocele?

Doctors and scientists have not been able to find a cause for this condition.  One theory proposes that folic acid deficiency during and throughout early pregnancy hinders spinal cord development. The illness might potentially have a hereditary component; however, thus far, evidence does not support this theory.

Diagnosis

The majority of Meningomyelocele diagnoses occur in utero. The maternal serum alpha-fetoprotein (MSAFP) test may hint at the diagnosis. This typical test finds alpha-fetoprotein, a fetal protein, in the mother’s blood. Because alpha-fetoprotein normally remains in the developing fetus, it can indicate problems such as open neural tube defects when present in the maternal blood. However, the MSAFP does not always provide accurate results. It can provide both false positives and false negatives.

If MSAFP returns anomalous results, it usually requires further testing. At this point, an imaging scan such as a high-resolution ultrasound often provides a definitive diagnosis. Ultrasound, a common and safe procedure for prenatal care, uses high-frequency sound waves to create images of internal structures. Meningomyelocele is often not diagnosed until birth, when it is visible and easily diagnosed in newborns.

Risk Factors

Doctors and scientists believe that Meningomyelocele has several causes. Early in development, maternal folate deficiency (a nutrient present in beans, citrus, leafy green vegetables, and fortified grain products) frequently exists in mothers who give birth to infants with Spina Bifida; however, it has been determined that this deficiency cannot independently cause the condition. Prenatal environmental factors, such as maternal diabetes, obesity, or high body temperature, may affect how the illness develops as well.

How Does the Location of Spina Bifida on the Spine Impact Movement Difficulties?

The effects of spina bifida on movement largely depend on its position along the spine. When spina bifida occurs higher up the spine, it can lead to more pronounced movement challenges due to increased nerve and spinal cord involvement.

Key Movement Implications:

• Nerve Damage and Control: The higher the condition is on the spinal column, the greater the potential nerve damage, which can significantly affect muscle control and coordination.
• Mobility Device Dependence: Individuals may need mobility aids like crutches or wheelchairs to navigate even short distances. The necessity and type of device depend on the specific location of the nerve damage.
• Bladder and Bowel Control: Where it occurs also influences autonomic functions, making bladder and bowel management more challenging.
• Developmental Impact: In cases where there hasn’t been timely surgical intervention, the exterior manifestations, such as a spinal bulge, might be more pronounced, further impacting posture and mobility.

The degree of muscle strength and sensation varies based on the impact on the nerves, affecting a person’s ability to sit upright or maintain balance. The higher the disruption along the spine, the greater the likelihood of severe mobility issues, which highlights the importance of early diagnosis and intervention.

Treatments

To lessen the possibility of infection or further spinal cord damage, newborns with Meningomyelocele can be surgically treated in utero. Although it is not always possible and includes risks for both mother and fetus, the operation has generally shown encouraging outcomes. Normally, and in the majority of cases, treatment of the infant will occur during the first three days of life, when a pediatric surgeon will close the spine and the back. Our doctors will order imaging to identify other potential anomalies that the surgeon might treat during the operation.

The baby will lie face down throughout the procedure. Our pediatric surgeon will meticulously remove tissue — layer by layer — while using a surgical microscope and extremely intricate equipment. The surgeon preserves the spinal cord, eliminates as many potentially dangerous components as he can, and restores as much of the spinal column’s natural structure as he can.

Following surgery, a gauze bandage covers the wound for a few days. Parents can carry the baby on its stomach for eating, breastfeeding, therapy, and “skin-to-skin” time, and should place the baby face-down or on his or her side in the bassinet.  Meningomyelocele, unfortunately, does not become “cured” by surgery. A spinal cord that did not grow correctly or is not present at birth cannot be functionally restored via surgery. Numerous neurological issues occur with Meningomyelocele-affected children, and certain difficulties call for ongoing treatment and observation.

What Did the MOMS Study Reveal About Prenatal versus Postnatal Surgery?

One of the most influential research efforts in this field, the Management of Myelomeningocele (MOMS), provided crucial insights on the timing of surgical intervention for Meningomyelocele. Launched in the early 2000s as a multi-center trial led by the National Institutes of Health, this study compared prenatal (in utero) surgery to the traditional approach of repairing the spinal defect after birth.

The findings were significant:

• Reduced Brain Complications: Babies who underwent prenatal surgery were less likely to experience midbrain herniation, a serious issue often linked with Chiari type II malformation.
• Lower Need for Shunts: Prenatal intervention decreased the likelihood that children would require shunting procedures to manage excess cerebrospinal fluid (hydrocephalus).
• Improved Development: Children who received fetal repair generally demonstrated better outcomes in both mental development and motor function.
• Greater Likelihood of Independent Walking: There was an increased chance that these children would walk independently, sparing them some reliance on mobility aids.

Importantly, the study observed that certain neurological complications associated with MMC begin to develop during the latter part of pregnancy. Performing surgery before birth appeared to preserve or, in some cases, restore nerve function that might otherwise have been lost. These results have positioned prenatal surgery not simply as an alternative.  However, it is a potentially superior option for select cases.  Consequently, the decision still requires careful consideration of risks and benefits for both mother and baby.

After Surgery

A child with Meningomyelocele will benefit greatly from regular follow-ups with our team of medical professionals, which includes a pediatric urologist, orthopedist, neurologist, and physical therapist in addition to a pediatric surgeon. A pediatric surgeon evaluates each child’s unique circumstance and develops a treatment plan in collaboration with the family. Our pediatric surgeons not only repair the newborn’s open spinal deformity but also diagnose and manage the following neurological disorders that occur in conjunction with Meningomyelocele:

Hydrocephalus:

Doctors refer to a buildup of liquid within the brain as Hydrocephalus. This condition appears in roughly 80-90% of children with Meningomyelocele. Our doctors treat this with a shunt — a long tube that a surgeon inserts within the body to deplete the abundance of liquid. Lately, a few cases were treated effectively with an endoscopic third ventriculostomy and choroid plexus cauterization to avoid the requirement for a shunt. Hydrocephalus is ordinarily treated sometime after an infant’s release from the healing center.

Chiari Malformation

The disease known as Chiari malformation refers to when the base of the skull is too small to accommodate the brain. A Chiari malformation results in some brain tissue being pushed down out of the skull and into the spinal canal (Chiari malformation can have multiple origins; One II is the type present at birth, like in spina bifida). The signs of a Chiari malformation do not always appear.  There is no need for treatment if it has no symptoms.

Doctors will recommend Surgery when it results in progressive symptoms or symptoms that worsen with time. Chiari malformations can manifest as frequent aspirations (breathing in food or saliva), apneas (pauses in breathing), neck aches, and arm paralysis. Families and caregivers might benefit from guidance from a pediatric surgeon in recognizing the signs of Chiari malformation in a baby or young child.

Tethered Cord:

Tethered Cord (TC) is a disorder in which the spinal cord is “stuck” to a structure within the spine, such as dura, scar tissue from a previous operation, a bony spicule, or even a tumor. This condition causes a constraint on the spinal cord’s range of motion. Doctors know that developing children with Spina Bifida can have this problem and will continue to observe the spine’s flexibility.

When it manifests symptoms, our doctors will carefully examine each child’s condition and then will recommend either surgery or close observation. In addition to helping families and caregivers understand how to keep an eye on the child’s growth at home, our doctors will continue to observe the child’s neurological function during office visits.

The Long-Term Outlook

People with spina bifida now live longer thanks to modern therapies. According to the University of North Carolina, 90% of those with this illness survive until maturity. The treatments for spina bifida get better all the time. Spina bifida babies frequently need several surgeries to correct the physical deformities that they are born with. In the first few years following diagnosis, babies will likely pass away as a result of a birth defect or a complication from surgery to cure a birth defect.

How Can I Prevent Meningomyelocele?

Scientists associate low folic acid levels with spina bifida and other neural tube abnormalities. During pregnancy, it’s critical to take folic acid supplements. Especially during pregnancy, the B vitamin folic acid helps the growth of red blood cells and overall health. Therefore, before becoming pregnant, our doctors recommend taking folic acid supplements.

Why Should I Seek Help From the Doctors at Medical City Children’s Orthopedics and Spine Specialists?

Genetic medical disorders require knowledge, skills, expertise, and experience to properly treat.  The physicians at the Medical City Children’s Orthopedics and Spine Specialists have the skills required to treat genetic medical conditions using the latest and best procedures.  We have five offices for our patients’ convenience —  Dallas, Arlington, Flower Mound,  Frisco, and McKinney, TX.  We accept new patients and invite you to call and schedule an appointment for your child.

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Footnote:

National Institute of Health: Meningomyelocele