Health

Closure of Back Defect
Neurosurgical involvement begins either prenatally or at birth. Some studies suggest that closure of the defect before birth (prenatal surgery) may reduce the risk of complications. This highly complex surgery is only offered at specialized centers. In most cases, closure of the defect is performed within the first few hours or days of life. Risk of infection increases with delayed closure. Until the surgical closure is performed, the back defect is carefully covered to protect from contamination and drying out. Closure of the defect may have significant effects on the flow of cerebrospinal fluid, and the infant must be monitored closely for signs of hydrocephalus.

Hydrocephalus and Arnold-Chiari Malformation
Hydrocephalus refers to an accumulation of cerebrospinal fluid (CSF) in the cavities of the brain, which may lead to increased pressure within the brain. Ninety to ninety-five percent of children with myelomeningocele (MMC) will develop significant hydrocephalus, most of whom will require surgical intervention. The most common treatment is implantation of a ventriculo-peritoneal(VP) shunt which allows fluid to drain from the spaces of the brain (the ventricles) to the abdominal cavity (peritoneal) fluid where it is reabsorbed

Arnold-Chiari malformations refer to abnormalities in the development and positioning of the base of the brain in the upper spinal canal. Eighty to ninety percent of patients with myelomeningocele (MMC) have an Arnold-Chiari type 2 malformation, which involves displacement of portions of the brainstem and cerebellum into the cervical spinal canal, with elongation of the fluid cavity known as the fourth ventricle. Compression of these vital structures can result in difficulty swallowing, eye muscle imbalances, and breathing difficulties which may be fatal (central ventilatory dysfunction). Symptoms may be present at birth or may develop at two to three months of life. Compression of the brainstem may also result in weakness of one or both arms, as well as affect upper extremity coordination.

Bladder
A bladder that has lost its normal control by the nervous system because of damage to the spinal cord or peripheral nerves is often referred to as a “neurogenic bladder”. The goals of neurogenic bladder management in MMC are to: 1) control incontinence, 2) minimize infections, and 3) preserve kidney function. Bladder control relies on nerve input predominantly from the sacral spinal levels. Urinary incontinence due to neurogenic bladder is seen in 95% of children with MMC. Bladder function may be characterized as lower motor neuron, with weakness and low muscle tone in the bladder walls and sphincter (valve that controls urine storage and emptying from the bladder), or upper motor neuron, with high muscle tone and a sphincter which does not relax adequately to allow the bladder to empty well.

Abdominal ultrasound is an important method for monitoring for signs of hydronephrosis (swelling of the kidney). Ultrasound can also visualize changes in the bladder that occur with neurogenic bladder and identify congenital abnormalities of the kidney and some other organ structures. Urodynamic testing can provide more information about the function of the bladder and measures the pressure in the bladder and urinary sphincter control. Elevated bladder pressures can lead to hydronephrosis over time, which can result in deterioration of kidney function. A voiding cystourethrogram (VCUG) is a test that can help visualize the inside of the bladder and determine if urine is flowing back (refluxing) towards the kidneys. Regular follow-up with a urologist is critical, and changes in bladder function warrants re-evaluation of neurologic status for complications such as tethered cord and syringomyelia. (see section on Long-Term Medical Considerations)

Bladder management depends on the type of voiding problems identified. During infancy and early childhood, if the bladder empties adequately and kidney function is normal, treatment may be limited to use of diapers and regular urologic follow-up. If the bladder does not empty completely, but there is no resistance to emptying, applying gentle pressure in an upward and downward motion to the lower abdomen (between the umbilicus or belly-button and pubic bone) can sometimes help bladder emptying. This is known as the Crede Maneuver.  If there is poor relaxation of the sphincter and/or inadequate emptying of the bladder, the most common treatment prescribed is clean intermittent catheterization (CIC). This may be performed in conjunction with medications to help relax the bladder wall to increase the capacity of urine that can be held within the bladder.

In some cases, surgical procedures can help to optimize independence and bladder function. Bladder augmentation can allow the bladder to store a greater volume of urine, and implantation of an artificial bladder sphincter can improve continence. For individuals who have difficulty performing traditional self-catheterization due to poor coordination or inability to visualize the area, an artificial opening to the bladder (stoma) can also be created to facilitate self-catheterization.

Children with normal hand function and intelligence can learn to perform self-catheterization as early as 5 years of age, but will require assistance to maintain appropriate hygiene and adhere to a schedule. Up to 30% of teenagers with myelomeningocele will still require assistance of a caregiver for bladder management.

Bowel
The goal of bowel management in spina bifida is to develop regular, predictable and efficient bowel movements, and minimize unexpected bowel movements. Bowel control has voluntary and involuntary components, with voluntary control also being transmitted through the sacral level nerves. Approximately 20% of children with myelomeningocele have fairly normal bowel control. During infancy, management focuses on regular evacuation of the bowels and maintaining a soft stool consistency. Early establishment of a bowel program (by no later than 3 years of age) is important in order to facilitate the transition to school and minimize social problems with peer acceptance.

Neurogenic bowel, like neurogenic bladder, is a term used to describe bowel function when it is not completely under voluntary control. A neurogenic bowel can be of either an upper or lower motor neuron form. In the upper motor neuron neurogenic bowel, reflexes can be utilized to help with routine bowel evacuation. Digital stimulation with a gloved, lubricated finger is often used to trigger a bowel movement. Dietary modification and/or the use of various medications can help to improve the bulk and consistency of stool, and the regularity of emptying. (see Spinal Cord Injury Secondary Condition: Bowel Management for details). Lower motor neuron findings are more common in spina bifida, typically manifested by no tone of the rectal sphincter and lack of reflex activity. Continence or voluntary control is more difficult to achieve in lower motor neuron and relies heavily on development of optimal stool consistency and establishing a regular (usually daily) program of manual disimpaction (removal of stool) with the fingers. Typically, bowel programs are encouraged to follow meals in order to take advantage of the gastrocolic reflex. This involves increased activity of the large intestine after filling of the stomach.

Establishing an effective bowel program takes time and close communication with caregivers, and consistent dietary practices and/or medication use. Bowel continence is an important and achievable goal for many reasons. In addition to optimizing the health of the gastrointestinal tract, an effective bowel program can help protect against skin breakdown by eliminating the presence of moist stool against the body. Bowel continence also has a tremendous impact on emotional development and acceptance by peers. Adolescents and adults with spina bifida cite fecal incontinence as one of the greatest barriers to participation in age-appropriate activities such as school and work, and can lead to isolation, poor self-confidence, and depression.

For those individuals who cannot achieve continence through these methods, they may be candidates for the ACE (Antegrade Continence Enema) procedure. Developed in 1990 by Dr. Malone, this procedure involves the creation of a stoma to allow for catheterization to administer a fluid enema into the beginning of the large intestine. The appendix or other intestinal tissue is typically used to create the stoma, and success (as defined by continence) has been reported to be as high as 90%. This procedure is performed by urologists and general surgeons, and despite the potential complications, has proven to improve quality of life for individuals who cannot achieve continence by other means.

Musculoskeletal Problems
Spine
Scoliosis is an abnormal curvature of the spine. It is a common complication of spina bifida, and is more likely to occur with higher level involvement of the spine. Nearly all children with thoracic level lesions will develop significant scoliosis, while it is seen in only approximately 60% of patients with L4 involvement, and 5-10% in sacral involvement. Kyphosis (increased curvature forward) and lordosis (increases curvature backward) are also quite common. Abnormal spinal curvatures may be present at birth as a result of malformation of the spinal bones, or it may develop over time related to muscle weakness and/or imbalance or other causes. Scoliosis that develops late in childhood or that progresses rapidly may be a sign of an underlying neurologic problem, such as syringomyelia, tethered cord, or spinal tumors. Imaging studies such as MRI or CT scans may be required in addition to plain x-rays.

Treatment is focused on stabilizing a spine in the best alignment possible. In some cases a custom-molded brace (such as a Thoracolumbosacral Orthosis or TLSO) is prescribed to try to delay progression of the curvature, though this does not provide complete or long-term correction. Surgical fusion of the spine may be necessary. It is usually performed in cases where ongoing progression of curvature is anticipated, as commonly seen in kyphosis. Kyphosis is often progressive and if severe can result in compression of the abdominal organs, respiratory difficulties, and pressure sores. Timing of surgical intervention is critical since surgery performed too early will result in limited spinal growth and delaying too long may result in curvatures progressing to the point where treatment is unsuccessful or impossible.

Hip
Due to the regions of the spine most commonly involved in MMC, it is common for the individual to have preserved strength in the muscles that flex the hip (bringing the knee toward the chest) and those that adduct (bring the legs together), and weakness in the muscles that extend (straighten) and abduct (separate) the hips. The former muscles are controlled by the higher level spinal nerves (typically L1-4) and the latter muscles are controlled by lower level spinal nerves (L5-S2). This imbalance in weakness can result in hip flexion contracture (a fixed loss of flexibility) and places the child at risk for hip subluxation (progressive displacement of a joint) and dislocation. Children with higher level spinal lesions often maintain their hips flexed, separated, and externally rotated (“frog-leg” posture). They can develop fixed deformities which may make it difficult to sit and be positioned adequately. If these deformities interfere with comfortable seating or lying in bed, they may require orthopedic surgical intervention such as bony surgery (osteotomies) or muscular releases and lengthening.

Approximately half of children with MMC have hip subluxation or dislocation at some point. Treatment goals are to try to maintain appropriate alignment of the lower extremities in order to facilitate comfortable and functional positioning, preserve skin integrity, and minimize further musculoskeletal complications. If hip dysplasia (deformity of the hip socket) is identified at an early age, an orthosis (brace) may be prescribed to keep the legs abducted (separated) to try to counter the muscular imbalance and help improve hip joint mechanics. In some cases, surgical intervention may be recommended for hip subluxation or dislocation. Maintaining a well-positioned hip joint is particularly important for children and adults who can walk, though surgical recovery and risk of complications must always be considered. In some cases, surgery involves only soft-tissues (muscle lengthening and releases). Other times, hip surgery may include soft-tissue surgery as well as osteotomies of the femur (thigh bone) and/or pelvic bones. For children with dislocation of both hips and adequate range of motion, surgery is often not necessary.

Knee
Children with MMC may develop contracture of the knee, most commonly in a flexed position, with an inability to fully extend the knee. In some cases, this may be related to positioning in the womb, and some individuals keep their knees in a flexed posture due to muscle imbalances, prolonged sitting, and/or during walking. Knee extension contractures can also be seen, but less frequently. Range of motion exercises are critical for both treatment and prevention. Sometimes orthoses are used to facilitate stretching, either at rest or during activities. Contractures can sometimes be improved by treatment with serial casting. This treatment involves the careful application of a cast across the joint, with cast changes typically one to two times a week and gradual increase in the stretch provided. Extra caution must be exercised because of the risk of skin breakdown, particularly in areas of poor sensation. Other treatment options include surgery or the use of botulinum toxin (Botox and Dysport are botulinum toxin type A, and Myobloc is botulinum toxin type B) if muscular spasticity is contributing to the deformity.

Foot and Ankle
Foot and ankle deformities are the most common orthopedic abnormalities in MMC and are the result of muscle imbalance. Rigid club foot deformity or equinovarus can be seen and is often first treated with casting to improve soft-tissue mobility, though surgery is required in almost all cases. Milder cases may be managed with orthoses to maintain foot and ankle alignment, such as ankle-foot orthoses (AFOs), supramalleolar orthoses (SMOs) and others. Surgical treatment may include tendon lengthening or transfers, joint capsule releases, osteotomies, or in extreme cases, joint fusion (arthrodesis).

Long-Term Medical Considerations
Tethered Cord Syndrome
Tethered cord syndrome refers to an abnormal attachment at the base of the spinal cord that can result in traction on the nerves. It can be associated with spinal cord abnormalities, scar tissue, and spinal tumors such as lipomas. Symptoms such as changes in muscle strength, onset of spasticity, changes in bowel or bladder function, rapid progression of scoliosis, or back pain may be a sign of tethered cord. Treatment requires surgical release. Early diagnosis and treatment may help to preserve neurologic function, though recovery of lost strength or sensation may or may not occur. An MRI scan is the most common diagnostic study used to help diagnose tethered cord syndrome.

Syringomyelia
Syringomyelia, syrinx or hydromyelia refers to the development of a fluid-filled (cerebral spinal fluid) cyst in the center of the spinal cord. It can occur anywhere along the spinal cord or brainstem, but is most commonly seen in the cervical region. The most common symptoms of syringomyelia are rapidly progressive scoliosis, changes in arm or leg strength or muscle bulk, change or worsening of spasticity, sensory changes, headaches, or neck pain. Diagnosis is made with an MRI scan, but the size of the syrinx does not always correlate with the clinical symptoms. Therefore, surgical intervention is usually done when people begin to experience clinical symptoms listed above. Surgery most commonly involves the placement of a shunt to drain the syrinx. 

Skin Breakdown
Due to the loss of sensation that is often seen in MMC, unrelieved pressure may result in pressure ulcerations. Risk may be increased due to skeletal deformity and the abnormal mechanics of sitting and walking. Injury may be the result of pressure, cuts, abrasions, burns, or even cold injury. Undiagnosed and untreated areas of skin breakdown may progress to deep wounds involving the muscles or even bone. Infection of the wound can be a serious complication. Bony prominences are areas particularly at risk, and skin breakdown is commonly seen in the region of the sacrum or diaper area, over prominences in kyphotic curvature of the spine, or in the legs. Wheelchair-bound individuals are at greatest risk of breakdown in the sitting areas, while those who are able to walk are more likely to have breakdown of the foot or ankle.

Prevention of skin breakdown is a critical goal, and prevention is the key. Regular skin monitoring, frequent pressure relief while seated, and appropriate fit of orthoses are essential. Once skin breakdown has developed, the costs can be tremendous when measured in time missed from school or work (for the individual as well as family or caregivers) in addition to the medical treatment costs. In some cases, skin ulceration can resolve with appropriate pressure relief and topical treatments, while in other cases, surgical treatment may be required such as muscle flaps, skin grafts, or even amputation. For wheelchair dependent individuals, appropriate wheelchair seating and cushions require a good deal of thought and planning. Growth, scoliosis, hip joint integrity, weight, history of skin problems, mobility skills, and pressure-relieving ability must all be considered.

Obesity
Excessive weight is a common problem in MMC. It requires early intervention in the form of dietary counseling from infancy. Some studies have found that children with MMC do not expend as much energy (in the form of calories) as their peers, and once a child becomes overweight, activity levels tend to decrease even further, making weight loss efforts often unsuccessful. Obesity increases the risk of skin breakdown and makes functional activities more difficult, increasing risk of injury and restriction of activities. Obesity also increases problems with self-confidence and social acceptance that may lead to increased emotional stress, depression, and isolation. A healthy diet combined with a regular exercise program is a proactive way to help avoid these problems. When started early in childhood, these positive and healthy behaviors may help to develop and reinforce other healthy lifestyle choices and goal-oriented behavior.

Latex Allergy
Latex allergy has been found to be quite common in MMC. One study found that over 50% of children with spina bifida have some degree of latex allergy. Allergic reaction to latex may result in skin rash, swelling, and in severe cases, breathing problems or anaphylactic reaction. It is recommended that children with spina bifida avoid all exposure to latex products (including catheters and other medical equipment) and non- medical items (toys, balloons, and dental treatments).

Functional and Developmental Issues
Mobility
Children with MMC will commonly be delayed in the development of gross motor milestones such as sitting, standing, and walking. The higher the lesion, the greater the difficulty in achieving these skills. Sometimes, motor development in the first six months of life is close to normal, but as expected milestones start to require more lower extremity strength and control, delays may become more pronounced. For children who have difficulty exploring their environment due to mobility deficits, it is important to provide them with the therapy and equipment to facilitate these activities, in order to help with cognitive and sensory-motor development. Throughout the developmental years, the role of the physical therapist is critical in assisting with ongoing assessment and management of mobility problems. This may require range of motion and strengthening activities, use of orthoses and other equipment, and family training in home exercise programs.

The ability to walk with MMC depends on the level of the spinal lesion and the resultant strength in lower extremity muscles, as well as how walking is defined. For some, walking is something that is their main way of getting from one place to another. For others, walking is only performed as a therapeutic activity or exercise, or is used within the home only, or used at varying times depending on the situation. Preserved strength in the muscles that flex the hip (bring the knee toward the chest) and in the quadriceps (muscle that straightens the knee) suggest a good potential for walking. Walking is often a goal for children with MMC, and multiple benefits have been described, including  improved bone strength, increased general fitness and aerobic conditioning, improved psychological development, and benefits to lung and bowel function. Some have argued that standing and walking may reduce the risk of obesity, lower extremity contractures, and skin breakdown. However, research has not clearly supported these claims.

Braces or orthoses are often used in the management of MMC to help improve mobility or function, or to help reduce deformity. Orthoses can be used to augment muscle function if it is weak, or substitute for it if absent. They can be used to improve alignment of a joint and limit range of motion if needed. Extensive lower extremity bracing such as the RGO (reciprocating gait orthoses) or HKAFOs (hip-knee-ankle-foot orthoses) may help to support the entire lower extremities in cases of high lumbar or thoracic lesions. In mid-lumbar lesions, weakness of the knee and ankle may be seen, which may benefit from use of KAFOs (knee-ankle-foot orthoses) or a variety of AFOs (ankle-foot orthoses).  Several unique devices have been used over the years with children with spina bifida: the parapodium is a device which provides support from the mid-chest to the feet, and can help to facilitate sitting and standing. A swivel walker is a modification to the parapodium which adds a footplate which can translate the motions of trunk rotation into forward advancement of the footplates. The RGO utilizes a cable system that links forward motion in one leg to hip extension on the opposite side, thus simulating walking. Ambulation with all of these devices results in increased energy expenditures when compared to normal walking. For this reason, these methods may not provide a practical and efficient means of mobility, necessitating the use of a wheelchair for day-to-day mobility needs.

Self-care
Activities of daily living (ADLs) include feeding, grooming, hygiene, toileting, dressing and bathing. These activities may be impacted by gross motor abilities, such as the ability to sit or stand. They may also be negatively impacted by difficulties with visual-perceptual and visual-motor skills. Adaptive equipment may be helpful in improving independence with self-care activities. Occupational therapists are specialized in evaluating and treating individuals to increase independence with ADLs; use of adaptive equipment; and training to improve fine motor, visual-perceptual, and visual-motor skills.