Spina Bifida Treatment & Management

In the United States, antibiotics, sac closure, and ventriculoperitoneal shunt placement are the standard of care for spina bifida and are implemented in the perinatal period in 93-95% of patients. Supportive care alone may be recommended in cases associated with an irreparable sac, active gross CNS infection or bleeding, and/or other gross congenital organ anomalies causing life-threatening problems.

Patients with spina bifida require extensive, active, interdisciplinary treatment by a trained and coordinated team. Neonatal neurosurgery is followed by monitoring of head size and condition for potential hydrocephalus, evaluation of sphincters, and progression toward an appropriate bowel and bladder regimen. ^{[49, 50]}

Early monitoring of motor function in the lower extremities also is necessary. Such monitoring should later consist of serial orthopedic examination, including muscle strength and joint range of motion (ROM) assessment, to detect any early changes that may require intervention. In addition, patients should be monitored for appropriate development and be provided with prolonged physical therapy, gym resources, and adaptive training while in school. Subsequent efforts are necessary to encourage, develop, and maintain independence.

Considerable attention may be needed to prevent the "outhouse syndrome," in which the patient's physical problems give rise to social consequences because of a failure to comply with an appropriate bowel regimen. Clean intermittent catheterization has been a very helpful adjunct to the preservation of urinary function.

Rehabilitative therapies

In addition to physical therapy, rehabilitation for spina bifida includes occupational and recreational therapy; speech therapy may be indicated for patients with speech and/or swallowing difficulties. ^{[7, 8, 9, 10]}

Physical therapy programs are designed to parallel the normal achievement of gross motor milestones. Occupational therapy should be initiated early to compensate for motor skill deficits and should progress along the normal developmental sequence. Recreational therapy is helpful for promoting independence by enhancing play and recreational opportunities.

Treatment strategies are designed to prevent deterioration of renal function and to establish infection-free social continence. These goals can be accomplished by several different methods of bladder drainage, including intermittent catheterization, vesicostomy, and placement of indwelling catheters.

Clean intermittent catheterization on a regular schedule is preferred to the use of long-term indwelling catheters, as it keeps children drier, less prone to infection, and in better control of urinary function. This technique is used from birth, if indicated, for reduction of bladder pressures or may be initiated to establish social continence at a developmentally appropriate time. ^[51]

However, intermittent catheterization may not be feasible for, or accepted by, the caregivers of infants and young children. In these cases, a temporary vesicostomy, in which an opening in the bladder is brought out to the level of the skin, may be a useful alternative. Vesicostomies can drain spontaneously and/or be catheterized.

Intravesical transurethral bladder stimulation has been shown to improve bladder compliance through increased functional bladder capacity and to improve sensation; however, this type of stimulation has been less successful in achieving volitional voiding and total urinary control.

Long-term maintenance of low bladder pressures may require the adjunctive use of medications to reduce bladder pressures and/or decrease spastic or hypotonic sphincter function. The success rate of intermittent catheterization and/or anticholinergic medications in achieving continence is estimated to reach 70-80%.

Children whose high bladder pressures are refractory to intermittent catheterization and/or medications (approximately 15-30% of patients with myelomeningocele) are candidates for surgical intervention. Various surgical techniques for augmentation cystoplasty and urinary diversion have been described in the literature.

When infection occurs, antibiotics are used in combination with the usual techniques of bladder management. In general, high fluid intake is recommended to assist the flow of urine, as residual urine in the bladder fosters bacterial growth and infection.

Abnormal anal sphincter function and anorectal sensation are associated with myelomeningocele involving spinal segments S2-S4. Many individuals with myelomeningocele, therefore, do not have the sensation and control needed to defecate volitionally. The result is bowel incontinence, often with related problems of constipation and impaction. Fecal incontinence can become a serious barrier to attending school, obtaining employment, or sustaining an intimate relationship.

Assisted bowel programs designed to empty the bowels regularly can establish social continence and prevent constipation. Patients are guided to develop a regimen for bowel movements, usually on a daily or every-other-day basis. These programs typically attempt to take advantage of the gastrocolic reflex by timing the bowel movement after a meal, typically breakfast or dinner.

Some patients are able to use the Valsalva maneuver to defecate, but some may need the assistance of digital stimulation, a stimulant suppository, and/or an expansion enema. Use of these techniques can help the patient to achieve proper timing of the bowel movement and complete evacuation. A high-fiber diet, sometimes in combination with use of stool softeners, may help to optimize stool size and consistency.

Individualized programs are necessary for proper bowel management, given the different manifestations of defecation dysfunction seen in patients with myelomeningocele. Consistency of the routine is extremely important for avoidance of accidents. Behavior modification and biofeedback techniques have increased success in achieving bowel continence in some children with myelomeningocele.

The goal of bracing is to allow patients to function at the maximum level permitted by their neurologic lesion and intelligence. Bracing also ensures a normal developmental progression, its aim being to enable patients to ambulate and to participate in appropriate age-related activities. Finally, orthotics should aid in minimizing the energy needed for the patient to maintain mobility levels.

In infants aged 9 months and younger, sitting balance and support may be provided with a standard car seat, elevated 45-60°. A car seat may be appropriate to maintain mobility with head and trunk control and to increase upper-extremity strength in children as old as 18 months. A standing frame may be used for those aged 1-2 years to diminish the degree of osteoporosis and to limit the contracture of the hip, knee, and ankle.

A parapodium may be helpful for children aged 3-12 years, allowing them to gain greater experience in standing and in manipulating work with their upper extremities at a table or desk. Because parapodiums are cumbersome, however, their use is limited as patients get older.

Subsequently, a wheelchair can provide mobility and often is used with a molded ankle-foot orthosis (MAFO). As the child has less neurologic input, a knee-ankle-foot orthosis (KAFO) may be helpful in allowing ambulation. Hip-knee-ankle-foot orthoses (HKAFOs) generally are useful in therapy but are not practical for long-term use.

The addition of a reciprocating gait orthosis (RGO) may help in reducing the energy expenditure required for mobility. Success with the RGO requires proper selection, strong motivation, and realistic goals and expectations. The patient and caregivers also must be able to participate in a training program and make frequent visits for orthotic repairs.

General functional expectations have been developed for patients in each lesion-level group to help direct physical therapy goals within an appropriate developmental context from infancy through adulthood. ^[52] The therapy programs should be designed to parallel the normal achievement of gross motor milestones.

In treating newborns with myelomeningocele, the physical therapist establishes a baseline of muscle function. As the child develops, the therapist monitors joint alignment, muscle imbalances, contractures, posture, and signs of progressive neurologic dysfunction. The physical therapist also provides caregivers with instruction in handling and positioning techniques and recommends orthotic positioning devices to prevent soft tissue contractures.

Provide the infant with sitting opportunities to facilitate the development of head and trunk control. Near the end of the first year of life, provide the child with an effective means of independent mobility in conjunction with therapeutic exercises that promote trunk control and balance.

For patients who are not likely to become ambulatory, place emphasis on developing proficiency in wheelchair skills. For patients who are predicted to ambulate, pregait training should begin with use of a parapodium or swivel walker. Exercise or household-distance ambulation may be pursued with the use of traditional long leg braces (eg, KAFOs, HKAFOs) or RGOs.

Teach the school-aged child community-level wheelchair mobility skills, emphasizing efficiency and safety. The physical therapist assists with assessment of the community, home, and school environments to determine whether architectural barriers exist that may interfere with the child's daily activities.

Children with spina bifida often have impairment in fine motor skills and in conducting activities of daily living (ADL). Initiate training early to compensate for these deficits and to progress along the developmental sequence as closely as possible.

Upper extremity stabilization and dexterous hand use require adequate postural control of the head and trunk. In the first year of life, encourage development of these postural mechanisms or substitute passive support, if necessary, to promote eye-hand coordination and manipulatory skills. When adequate fine motor skills have been achieved, the occupational therapist provides instructions for the use of adaptive equipment and alternative methods for self care and other ADL for preschool- and school-aged children.

Children with myelomeningocele often experience restricted play and recreational opportunities because of limited mobility and physical limitations. ^[53] This inactivity decreases the potential for normal development in all spheres and can exert a negative impact on self-esteem.

For the infant and toddler with myelomeningocele, recreational therapy enhances opportunities for environmental exploration and interaction with other children. For the school-aged child, recreational therapy provides opportunities for participation in adapted sports and exercise programs, which can result in long-term interest in personal fitness and health.

Recreational and physical fitness goals include socialization, weight control, and improved fitness (eg, flexibility, strength, aerobic capacity, cardiovascular fitness, coordination). Recreational therapy is useful for promoting independence with adult living skills and often is employed to help the patient shop for and purchase personal items, use public transportation, and develop appropriate leisure activities. ^{[52, 53]}

Closure of the myelomeningocele is performed immediately after birth if external cerebrospinal fluid (CSF) leakage is present. In the absence of CSF leakage, closure typically occurs within the first 24-48 hours. The surgery can be delayed for several days without additional morbidity or mortality, giving families more time to deal with the emotional impact of their child’s condition. This delay also gives parents more time to learn about myelomeningocele and to therefore better participate in the decision-making process regarding their child’s treatment.

Steps in the closure procedure include extensive undermining of the skin, dissection of the neural plaque that is replaced into the spinal canal, and meticulous watertight closure of the dura, fascia, subcutaneous tissues, and skin. (See the images below.)

Neonate with a lumbar myelomeningocele with an L5 neurologic level. Note the diaphanous sac filled with cerebrospinal fluid and containing fragile vessels in its membrane. Also, note the neural placode plastered to the dorsal surface of the sac. This patient underwent closure of his back and an untethering of his neural placode. The neural placode was circumnavigated and placed in the neural canal. A dural sleeve was fashioned in a way that reconstructed neural tube geometry.

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Sagittal, T1-weighted magnetic resonance imaging (MRI) scan of a child after closure of his myelomeningocele. Child is aged 7 years. Note the spinal cord ends in the sacral region far below the normal level of T12-L1. It is tethered at the point at which the neural placode was attached to the skin defect during gestation. The MRI scan showed dorsal tethering, and the child complained of back pain and had a new foot deformity on examination. By definition, all children with a myelomeningocele have a tethered cord on MRI, but only about 20% of children require an operation to untether the spinal cord during their first decade of life, during their rapid growth spurts. Thus, the MRI scan must be placed in context of a history and examination consistent with mechanical tethering and a resultant neurologic deterioration.

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Neurosurgical follow-up is required to recognize the complications of hydrocephalus or a possible tethered cord and to monitor any potential causes of seizure activity. In addition, urologic evaluation is necessary to establish a bladder regimen to prevent frequent urologic infections and to recognize and treat early, potential hydronephrosis or other causes of renal damage that can limit life expectancy.

Perioperative complications include wound infection, CNS infection, delayed wound healing, CSF leakage, additional neurologic damage to the cauda equina, and acute hydrocephalus. Long-term complications include cord tethering and progressive hydrocephalus.

Although in a few cases hydrocephalus arrests spontaneously, 80-90% of children with myelomeningocele ultimately require shunting. Ventriculoperitoneal shunting is the preferred modality. Alternatives include ventriculoatrial and ventriculopleural shunting.

Perioperative complications include intracerebral and/or intraventricular hemorrhage, bowel perforation, and infection. Long-term complications include infection, overdrainage or underdrainage, and obstruction of the shunt system.

Shunt dysfunction, which may result in an acute or chronic rise in intracranial pressure, occurs more commonly in the first 2 years of life. Diagnosis may be difficult, as early signs and symptoms are extremely variable and often nonspecific.

Symptomatic syringomyelia may resolve after shunt insertion or revision. If symptoms persist in the absence of a shunt malfunction, surgical intervention may involve a Chiari decompression or direct shunting of the syrinx.

The Chiari II malformation results in problems severe enough to warrant surgical intervention in approximately 15-35% of patients with myelomeningocele. Potential surgical candidates include patients with the following:

• Vocal cord weakness or paralysis

• Significant stridor

• Apnea

• Aspiration

• Sensorimotor deterioration

Treatment initially involves control of hydrocephalus. If this does not improve symptoms, surgical repair of the Chiari II malformation is pursued. This involves an occipital craniotomy and upper cervical laminectomy for decompression of the medulla and upper cervical spinal cord.

Musculoskeletal problems in myelomeningocele can be congenital or acquired and often require orthopedic intervention. Orthopedic surgeries are directed toward functional improvement as opposed to correction of radiologic findings.

Kyphosis and scoliosis

Spinal deformities are common in myelomeningocele, and progressive kyphosis or scoliosis may lead to a decline in functional status and to an increased risk for the development of decubitus ulcers and cardiopulmonary compromise.

Spinal stabilization is necessary to correct kyphosis, which may be related to congenital vertebral malformation or may be a result of the collapsing spine in high-thoracic paraplegia. The development of techniques such as decancellation and longer fusions, along with earlier intervention (around age 3 y), has improved outcomes.

Scoliosis affects 30-50% of children with myelomeningocele and may be the result of asymmetrical muscle forces, unilateral hip dislocation and pelvic obliquity, or an underlying, progressive neurologic process such as tethered cord syndrome. Spinal orthotic devices may serve as a temporizing measure, but growing children with spinal curves greater than 30-35° typically require surgical fusion. Lumbosacral fusions are avoided in order to preserve pelvic motion.

Hip relocation surgery

Paralytic muscle imbalance around the hip joints may lead to progressive hip dislocation. This typically occurs in early childhood in patients with high- and mid-lumbar lesions and in late childhood or adolescence in children with low-lumbar lesions.

The literature evaluating the benefits of surgical relocation of the hips reflects the ongoing controversy surrounding the topic. ^[54] No good evidence supports the functional benefits of hip relocation surgery in patients with high-lumbar lesions. Surgery to release contractures limiting motion at the hip and causing an asymmetrical gait is recommended in patients with low-lumbar myelomeningocele and hip dislocation.

Surgery for relocation of the hips is indicated for patients who ambulate without support and have a strong quadriceps, a good ROM for the hip, and a level pelvis or sacral-level lesions. Gait analysis has been proposed to better understand these complex systems and may refine future indication, but long-term follow up is critical.

Correction of knee contractures

Common knee deformities in myelomeningocele include flexion and extension contractures, usually related to a capsular contracture. Surgery is indicated when the contracture causes a functional problem. Types of procedures include a simple tenotomy of the knee flexor tendons in the child with a high-level lesion, and lengthening of the tendons in the child with a low-lumbar or sacral-level lesion, for whom preservation of hamstring function is important.

Extension contractures are less common, but they interfere with sitting and are associated with hip dislocation and clubfoot. If the contracture is not amenable to conservative measures (eg, serial casting), an extensor tendon release is performed.

Correction of rotational deformities

The most common rotational deformities seen in myelomeningocele are internal and external tibial torsion. These may result in significant gait deviations that affect functional mobility. The combination of femoral anteversion and excessive external tibial torsion, which is often seen in patients with low-lumbar and sacral-level lesions, can lead to abnormal valgus stress at the knee and can cause knee pain and arthritis in adult life.

Some rotational malformations improve with growth and/or the use of bracing. If improvement is not noted by age 6 years, surgical correction is indicated.

Correction of foot and ankle deformities

Foot and ankle deformities may cause skin breakdown and prevent the patient from wearing shoes and/or orthotics. Since almost all patients with myelomeningocele require orthoses, the goal of orthopedic treatment is achievement of a supple and flexible foot.

In the case of clubfoot, most patients need surgical correction in the first year of life, usually involving multiple soft tissue release procedures with tendon excisions. In older children, other types of deformities (eg, equinovalgus, cavus, calcaneovarus, calcaneovalgus) may require extra-articular bony procedures and tenotomies in order to correct the muscle imbalances and achieve a supple plantigrade foot that can tolerate a brace. Arthrodesis is rarely indicated but may be necessary in cases of severe ankle instability.

Patients who are born with a sac containing neural elements of the spine require neurosurgical closure of the defect in the neonatal period. They should be referred to an interdisciplinary clinic that includes the services of an orthopedic surgeon. Manifestations of myelomeningocele change as the infant develops, and multidisciplinary interventions are required to prevent the progressive deterioration of the multiple body systems affected.

The treatment team usually consists of pediatric specialists in physical medicine and rehabilitation, neurosurgery, urology, and orthopedics along with pediatric nursing, physical therapy, occupational and recreational therapy, psychology, and medical social work. A multidisciplinary clinic setting facilitates the coordination of comprehensive care for the patients.

Children with myelomeningocele should be scheduled for regular follow-up visits in the multidisciplinary clinic every 6 months throughout childhood and annually thereafter. More frequent visits with certain specialists may be necessary, depending on the outstanding medical and surgical issues that present at different times during the child's development.

Pediatric evaluation is appropriate for any child and, specifically, should include efforts to help the patient maintain a reasonable weight, because children without ambulation tend to gain excessive weight and develop associated morbidity. Endocrinologically, a growth hormone deficiency may be present, which could cause patients to be about 1 foot shorter than their peers. Consultations with an orthotist, a physical therapist, and a dietitian are appropriate to maintain optimal development and to maximize accessibility and independence.

Because muscle imbalance causes progressive, resistant deformities, the patient with spina bifida must be evaluated frequently by members of his or her support team. In this way, they can assess muscle groups, emphasize the need for balance to prevent deformities, and serially document changes that may result from a tethered cord, hydrocephalus, or other associated complications (eg, seizure disorder).

Frequent review of spina bifida support systems, aggressive shunting of hydrocephalus, the cooperation and success of patients in physical therapy, and assessment of the status of patients' braces, crutches, or wheelchairs are necessary for maximizing function in a multidisciplinary setting. With supplementary physical and occupational therapy, many children who were born with spina bifida can participate in mainstream society, gaining independence and success.

After childhood, group homes may be used to train patients with spina bifida to live independently. Clearly, these individuals have substantial problems. A supportive clinic and extensive interdisciplinary program are necessary to meet the affected individual's needs.

Because treatment and intervention for spina bifida involve the patient's entire family, parents can suffer significant stress, an area of concern for the pediatrician. It is necessary for the physician to counsel parents and family, informing them of the ramifications of the condition and of the surgical and medical care needed to maximize function.

While no cure for the patient is possible, pessimistic attitudes of or unrealistic expectations by the family, as well as parental feelings of guilt, anxiety, and inadequacy, must be addressed.

Since the late 20th century, the incidence of myelomeningocele has undergone a significant reduction in the United States and worldwide. This decline is related to the increasing availability and accuracy of prenatal diagnosis, along with the option for early pregnancy termination and the introduction of primary prevention in the form of folic acid therapy in the periconceptual phase. ^[19]

Studies demonstrating a reduction in the frequency of spina bifida with folic acid supplementation during pregnancy are accumulating, with reduction reported on the order of 50%. ^{[55, 56, 57, 58, 59]}

Bell and Oakley reported that current worldwide programs of folic fortification of wheat and maize flour have resulted in an annual worldwide decrease of about 6600 folic acid-preventable spina bifida and anencephaly cases since 2006. They noted that the pace of preventing these serious birth defects could be accelerated if more countries were to require fortification of both wheat and maize flour and if regulators were to set fortification levels high enough to increase a woman's daily average consumption of folic acid to 400 mcg. ^{[60, 61]} The US Preventive Services Task Force Recommendation remains 400-800 mcg of folic acid daily.

However, the metabolism of folic acid appears to be abnormal in affected patients, suggesting that spina bifida may result from an inherited defect rather than strictly from a deficiency.

High intake of folic acid may mask the anemia of vitamin B-12 deficiency and allow neurologic damage to progress untreated, so widespread folic acid supplementation has been recommended with caution, but in pregnancy it has had gratifying benefits. Improved understanding of the genetic factors involved in spina bifida could better allow its prevention.