Spina Bifida Treatment & Management

In the United States, antibiotics, sac closure, and ventriculoperitoneal shunt placement are the standard of care and are implemented in the perinatal period in 93-95% of patients. Supportive care only 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.

Early monitoring of motor function in the lower extremities also is necessary and should later consist of serial orthopedic examination, including muscle strength and joint range of motion 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.

For more information on treatment, see Rehabilitation for Spina Bifida and Surgery for Spina Bifida.

Cesarean delivery

When myelomeningocele has been identified prenatally, a cesarean delivery before rupture of the amniotic membranes and the onset of labor has been recommended to reduce injury to the myelomeningocele sac and theoretically decrease the degree of paralysis. However, one study showed no difference in long-term ambulation status in infants with myelomeningocele who underwent a trial of labor compared with elective cesarean delivery.^[23]

Prenatal surgery has been performed in some centers.^{[24, 25]} A randomized study has established that surgery before 26 weeks was associated with a decreased risk of death or shunt requirement before age 12 months, as well as improved mental and motor function scores at 30 months of age. Secondary outcomes included lower degrees of hindbrain herniation and greater likelihood of independent walking.^[26]

Prenatal open intrauterine repair

This study was stopped for efficacy as statistical significance was established. However, an increased risk of preterm delivery and uterine dehiscence at delivery was noted.

A retrospective chart review by Danzer et al found that children who underwent fetal myelomeningocele closure had better-than-predicted lower extremity neuromotor function at birth and short-term ambulatory potential. Despite improved ambulatory status, however, the majority of independent ambulators and all children requiring assistive devices had significant deficits in lower-extremity coordination.^[24]

Of the 54 patients in this study, 4 had thoracic lesions, 44 had lumbar lesions, and 6 had sacral lesions. At a median follow-up age of 66 months, 37 of 54 (69%) walked independently, 13 of 54 (24%) were assisted walkers, and 4 of 54 (7%) were wheelchair dependent. The strongest factors predicting a lower likelihood to walk independently were higher-level lesion and development of clubfoot deformity after fetal intervention.^[24]

Tethered cord release

The tethered cord syndrome requires treatment in approximately 33% of patients with myelomeningocele. It is indicated for those patients with progressive clinical signs and symptoms in order to prevent further deterioration and potentially restore the previous level of function. Surgical release is performed by dissection of the scarred portion of the spinal cord in the area of the myelomeningocele repair.

Hormone therapy

Hormonal treatments are increasingly being used for precocious puberty and growth hormone deficiency in children with myelomeningocele. A series looking at children with myelomeningocele treated with growth hormone showed that they were less overweight than were untreated adults with myelomeningocele and that their near-adult stature was greater.

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 long-term indwelling catheters, as it keeps children drier, less prone to infection, and more in 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.

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 in 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 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 energy expenditure 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 patients to gain greater experience in standing and manipulating work with their upper extremities at a table or desk. Because parapodiums are cumbersome, 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 may help in reducing the energy expenditure required for mobility. Success with the reciprocating gait o rthosis (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.

For more information on physical therapy, occupational therapy, and recreational therapy in these patients, see the Medscape Reference article Rehabilitation for Spina Bifida.

Closure of the myelomeningocele is performed immediately after birth if external cerebrospinal fluid (CSF) leakage is present and typically within the first 24-48 hours in the absence of CSF leakage. The surgery can be delayed for several days without additional morbidity or mortality. A delay gives families more time to deal with the shock and learn about the condition to enable them to participate to a greater degree in the decision-making process.

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.)

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. 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 hydrocephalus arrests spontaneously in a few cases, 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 may result in an acute or chronic rise in intracranial pressure and 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. Patients with vocal cord weakness or paralysis, significant stridor, apnea, aspiration, or sensorimotor deterioration are considered potential surgical candidates.

Treatment initially involves control of hydrocephalus. If effective control of hydrocephalus 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.

Spinal deformities are common, 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 potential 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 asymmetric 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.

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 hips reflects ongoing controversy surrounding the topic.^[27] 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 asymmetric gait is recommended in patients with low-lumbar myelomeningocele and hip dislocation. Surgery for relocation of the hips is indicated for patients with a strong quadriceps, a good range of motion of the hip, and a level pelvis or sacral-level lesions who ambulate without support. Gait analysis has been proposed to better understand these complex systems and may refine future indication, but long term follow up is critical.

Common knee deformities include flexion and extension contractures, usually related to a capsular contracture. Surgery is indicated when the contracture causes a functional problem. Types of surgery include a simple tenotomy of the knee flexor tendons in the child with a high-level lesion, or 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.

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. In addition, the combination of femoral anteversion and excessive external tibial torsion are often seen in patients with the condition at low lumbar and sacral levels. This 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 with the use of bracing. If improvement is not noted by age 6 years, surgical correction is indicated.

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.

Since the late 20th century, the incidence of myelomeningocele has undergone a significant decline in the United States and worldwide. This decline is related to increasing availability and accuracy of prenatal diagnosis with the option for early pregnancy termination and the introduction of primary prevention in the form of folic acid therapy in the periconceptual phase.^[9]

Studies demonstrating a reduction in the frequency of spina bifida with folic acid supplementation during pregnancy are accumulating, with reduction on the order of 50%.^{[28, 29, 30, 31]}

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 6,600 folic acid-preventable spina bifida and anencephaly cases since 2006. They note that the pace of preventing these serious birth defects can be accelerated if more countries require fortification of both wheat and maize flour and if regulators set fortification levels high enough to increase a woman's daily average consumption of folic acid to 400 mcg.^{[10, 32]} The US Preventive Services Task Force Recommendation remains 0.4-0.8 mg 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 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. Better understanding of the genetic factors involved in spina bifida could allow its prevention.

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. 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 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 both 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.

Moreover, their congenital condition requires treatment and intervention involving the patient's entire family, placing significant stress on parents. This is 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, the family's overall pessimistic attitudes or unrealistic expectations, as well as parental feelings of guilt, anxiety, and inadequacy, must be addressed.

As a group, patients with myelomeningocele have intelligence scores below the population average, but within the normal range. Lower scores are associated with higher-level lesions, hydrocephalus, CNS infections, and intracranial bleeding. With aggressive shunting of hydrocephalus, normal intelligence can be retained. Progress into mainstream society is possible, and skills can be acquired for lifelong contributions to society.

Children with myelomeningocele tend to demonstrate generalized deficits in visual memory and auditory/verbal memory. Verbal subtest scores usually exceed performance subtest scores, with visual-spatial organizational deficits that may be explained in part by upper limb discoordination and/or memory deficits.

The term "cocktail personality" has been applied to a subgroup of patients with hydrocephalus who appear to have advanced expressive language skills. The speech of these individuals typically is verbose, but it tends to lack content and contains jargon and many clichés. This pattern often is associated with poor comprehension skills and reflects significant cognitive impairments and functional deficits.

Approximately 75% of children with myelomeningocele have an IQ higher than 80. Among those whose intelligence is normal, 60% are learning disabled, with the most common feature being a nonverbal learning disability. Particular deficits are seen in mathematics, sequencing, visual perceptual skills, and problem solving. Prevalence of attention problems has been estimated to be 30-40%.

Adolescence

Sexual education and counseling should begin early to help adolescents with myelomeningocele make a positive adjustment to adolescence and to help them avoid misinformation. Sex education, including accurate information about safe sex, should be included in the routine health care maintenance of the older child and adolescent with myelomeningocele.

Studies of young people with myelomeningocele have shown that, although many are involved in intimate relationships, most had inadequate knowledge about sexuality and reproductive health issues related to their condition.

Females with myelomeningocele go through puberty 1-2 years earlier than their unaffected peers. Sexual precocity is associated with hydrocephalus and obesity. Abnormal genital sensation is typical, but some female patients with myelomeningocele are able to achieve orgasm. Fertility is not affected in females with myelomeningocele; however, pregnancy carries increased risk of urinary tract infection, back pain, and perineal prolapse postpartum.

Young men with myelomeningocele have abnormal genital sensation, decreased ability to achieve and sustain erections, and decreased fertility. However, the potential for ejaculation and reproduction must be assessed for each individual patient. Implantable penile prosthetic devices, vacuum tumescence devices, and electrical stimulation have been used for some patients unable to achieve erections.