Neural Tube Defects - Treatment & Management

Prenatal diagnosis and care
Since NTDs are often identified prenatally by ultrasound or following screening tests (triple screen, α-fetoprotein or AFP), the pediatrician may be involved in assisting the parents prior to the child's birth. [Bradley: 2005]. Note that the sensitivity of the entire NTD screening process is estimated to be 86% for anencephaly and 78% for open spina bifida, while the specificity is 99.99%. If the screen is abnormal, a specialized ultrasound examination will usually be done to look for NTD (other conditions may also cause elevated AFP). Diagnostic testing is also usually performed during any pregnancy at high risk for NTD, including moms with a previous history of a NTD. [Jallo: 2005]

Once diagnosed in utero, babies with a NTD are generally followed by both a high risk pregnancy program and their local obstetrician, with delivery planned at a tertiary care center. Counseling is provided regarding problems that may arise during pregnancy, birth, and throughout the child's life. Prenatal counseling is also usually available through a Spina Bifida Clinic. The type of delivery is decided by the obstetrician, but large head circumference, breech presentation, and any fetal distress are indications for C-section. A person with expertise in neonatal care, such as a neonatologist, will generally provide parent education regarding expectations at and immediately following birth.

Postnatal and ongoing care
Following birth, a spina bifida newborn protocol (for an example, see Newborn Myelomeningocele Protocol (PCMC) ( 77 KB) ) is activated. Pediatric neurosurgeons will repair the lesion and multiple evaluations are obtained to assess future management needs. Although there may be minor differences among programs, the protocol is fairly generic. Upon discharge, referrals to early intervention, a Spina Bifida Clinic, and other specialists as needed, should be in place, along with a first visit to the Medical Home.

Subspecialist Collaborations and Other Resources

Almost all children with myelomeningocele have some degree of bowel dysfunction, which can have devastating effects on social confidence and self esteem. Bowel continence and constipation should be discussed at every visit. Since no intervention works for every child, a trial and error approach to achieving continence and regularity is needed. Continence is achieved more often if training is started before age seven and if the child with myelomeningocele has bulbocavernosus and anocutaneous reflexes. [King: 1994]

Knowledge of the child's bowel habits should guide initial interventions. What time of day does the patient have a bowel movement? How long after eating? What is the consistency of the stool? Does the patient need an enema, a suppository, or just time on the toilet before stooling? Common considerations include:

• Interventions, including dietary manipulations, should aim for 1-2 mushy, easy-to-pass stools per day
• Diets should be high in fiber
• PEG 3350 (Miralax or Glycolax) should be added to give bulk to stools if a high fiber diet isn't helping
• For softer stools, water and prune juice should be added. Stool softeners, such as docusate, can also be added when needed
• Greasy foods should be avoided
• Meals and predictable time periods after eating for sitting on the toilet should be scheduled to utilize the gastrocolic reflex
• If timing bowel movements after meals is not successful, suppositories should be added (glycerin or biscodyl) to initiate bowel movements. Stimulants, such as senokot, or osmotic agents, such as milk of magnesia, are also sometimes helpful
• Bowel "clean-outs" are sometimes necessary when constipation has been an issue for a long period of time, usually followed by PEG 3350 daily until the colon adjusts to normal bowel movements. For details, see Constipation treatment (general).
• Consider a referral to gastroenterology if interventions are not successful.

Occasionally, an ACE procedure (antegrade continent enema) may be needed for severe problems with constipation. This operation constructs an opening between the skin of the abdomen to the proximal large intestine, creating an appendicostomy. This allows patients or their caregivers to administer fluid by inserting a catheter and administering fluids, flushing stool down the intestine. [Webb: 1998]

Subspecialist Collaborations and Other Resources

Neurosurgical Issues:
The majority of children with myelomeningocele will eventually require shunting, and most will require periodic visits with neurosurgery. The Medical Home should be watchful for signs and symptoms of hydrocephalus, such as increasing head circumference, irritability and sleepiness in infants, and headache, nausea/vomiting, and somnolence in children. Slowly increasing intracranial pressure will cause less acute symptoms than a sudden increase. Children with a shunt are at risk for shunt blockage, underdrainage, and overdrainage. They should be seen promptly if they have symptoms that might reflect shunt blockage or infection, which is more common in the first few months after shunt surgery. A shunt series and a CT scan may help identify problems. Spinal cord tethering, Chiari II malformation, and syringomyelia are also found in children with myelomeningocele. See Neurosurgical issues in children with spina bifida (general) for more details.

Epilepsy:

• Seizures and epilepsy in children with myelomeningocele are common, occurring in 10-25% of affected children. [Talwar: 1995] [Noetzel: 1991] [Bartoshesky: 1985] [Yoshida: 2006]
• Most studies have found epilepsy to be more prevalent in myelomeningocele patients with hydrocephalus than in those without (except [Noetzel: 1991]).
• The presence of shunts and shunt revisions is not correlated with epilepsy. [Klepper: 1998]
• Children with myelomeningocele and epilepsy tend to have other brain abnormalities, such as polymicrogyria or agenesis of the corpus callosum. [Talwar: 1995] [Yoshida: 2006]
• Children with myelomeningocele and epilepsy may be more likely to have mental retardation than those without epilepsy. [Noetzel: 1991]
• If seizures occur in myelomeningocele patients, they are treated similarly to seizures in the general population (see the Seizure module). Unless the child has the confounding factors of mental retardation and/or hydrocephalus, the prognosis is generally good for control of seizures. [Noetzel: 1991]

Subspecialist Collaborations and Other Resources

Skin breakdown – Individuals, especially adolescents and adults with myelomeningocele, often develop decubitus ulcers in major weight bearing areas, such as buttocks and feet. Reasons include:

• these areas are insensitive to pain
• these areas are stationary in spina bifida children in wheelchairs, unless efforts are made to increase movement voluntarily (for example, with sitting push-ups) on a frequent basis
• the spinal defect involves autonomic nerves that control the vascular supply to these areas, thus increasing the chances of getting decubitus ulcers and delaying healing when sores develop

Decubitus ulcers may eventually require prolonged hospital stays and, if not properly cared for, may be life threatening. Early changes leading to decubiti may include blanching erythema (that does not resolve quickly after the pressure has been removed), warmth, and a feeling of hardness to the skin. As progression occurs, the erythema no longer blanches, or a white area is noted. The underlying bone, muscle, and/or joint capsule may be affected, and often the seriousness of the ulcer cannot be appreciated from observing the skin alone.
Treatment – Prevention should be part of the ongoing educational process for the child and his/her family. Approaches include: pressure releases while in a wheelchair (10 second lifts every 15 minutes), frequent changes in positioning (for example, from a wheelchair to a mat every hour or two while at school), and position changes every two hours while lying in bed. The first step in treating a pressure sore is to ensure that the pressure causing it is removed. Consider new wheelchair cushions, a change in orthotics, or, if it is exacerbated by a contracture, antispasticity agents and a referral to surgery to release the contracture. If the decubitus is mild, thorough cleansing and possibly an occlusive dressing to keep the area moist may be sufficient. More advanced sores may require various other types of dressings (wet to dry dressings, Carrington gel), intravenous antibiotics, whirlpool treatments, and surgical debridement/skin grafting.

Latex Allergy – All children with spina bifida and their families should be taught to avoid latex in their environment. Newborns with myelomeningocele are usually put on latex precautions at birth. (see Newborn Myelomeningocele Protocol (PCMC) ( 77 KB) ) A large percentage of children with spina bifida have latex sensitivity and allergy, with symptoms ranging from itchy watery eyes to hives to fatal anaphylactic reactions. Although there are correlations between previous latex exposure history, number of previous surgeries, and the presence of other allergies, the intricacies of this allergy are not well understood. Because latex exposure to mucus membranes seems to correlate with increasing difficulty with latex allergy, sexually active adolescents and adults with spina bifida should use latex-free condoms. Specific recommendations for avoidance and lists of products that contain latex can be found at the Spina Bifida Association Website. See Latex Information (Spina Bifida Association).

Subspecialist Collaborations and Other Resources

Orthopedic Problems
Common orthopedic problems associated with spina bifida include:

• scoliosis
• kyphosis
• hip dislocations
• foot and knee deformities
• fractures

Scoliosis is the most common spine abnormality, occurring in approximately 50% of children with myelomeningocele. Development of scoliosis continues until about 15 years of age. Fewer than half of those with scoliosis will need spinal fusion because curves under 20 degrees will frequently resolve spontaneously. [Bowman: 2001] [Trivedi: 2002]. More significant degrees of scoliosis can lead to respiratory compromise, balancing and positioning difficulties, and decubitus ulcers. Bracing is frequently used before surgery, depending on the type of curve (paralytic versus congenital) and the clinical situation. This may allow surgery to be postponed to provide more time for spine growth.

Kyphosis, curvature of the spine in an anterior posterior plane, can cause progressive problems with seating, positioning, and pressure sores on the skin overlying the convex side. It can also lead to compression of abdominal contents and secondary interference with the function of the diaphragm and breathing. Kyphosis can be very difficult to manage, often requiring major spinal surgery to correct the deformity. Fortunately, kyphosis is less common than scoliosis in children with meningomyelocele, accounting for about 10 % of spine defects. It is more common when the myelomeningocele lesion is above T12. [Foster: 2007]

Hip dislocations are common in children with myelomeningocele, increasing in incidence with higher lesions. Muscle release surgeries may decrease the forces dislocating the hips. They may also have bony surgery to correct the deformities resulting from the muscle imbalance, improving the range of motion of the hips and knees and facilitating bracing and standing. The decision to surgically treat hip dislocation in this population is often based on the child's potential to walk, which is correlated with a lower lesion level (L3 level), and whether or not it is unilateral or bilateral.

Foot deformities are common in young children with myelomeningocele. They may require bracing if the deformity is flexible, or if the deformity is rigid, corrective surgery to relax the foot may be performed so that bracing can be effective.

Subspecialist Collaborations and Other Resources

Management of urine retention and urinary tract infections can be very challenging in children with NTD. Many will leave the hospital using clean intermittent catheterization due to high bladder pressure or reflux of urine. Anticholinergic medications (e.g., ditropan) are sometimes used to lower bladder pressure. Bladder and kidney function are then monitored over time and antibiotics prescribed (for infection or prophylaxis) as needed. If these more conservative measures fail, various surgeries are sometimes required.

Kidney Dysfunction – Neurogenic bladder and subsequent kidney dysfunction are major sources of morbidity and mortality in children with spina bifida. Although only about 10% will have kidney dysfunction at birth, about 50% will go on to have deterioration in kidney function, sometimes requiring dialysis or renal transplant. [Liptak: 2003] Repeated evaluations, every few months in infants and less frequently as the child gets older, and interventions as needed have prevented morbidity and mortality in many children with myelomeningocele.

Urinary Tract Infections – From birth, children with myelomeningocele should be monitored for urinary tract infections and treatment provided as needed. Frequent urinary tract infections in this population hasten kidney damage. A study performed in 2005 found no consensus among Spina Bifida Clinics in the United States regarding the management of bacteriuria. [Elliott: 2005]

Urinary Continence – Urinary management includes diapers, typical toileting with or without medications, intermittent catheterization, and surgical diversion. The achievement of urinary continence is important as the child gets older. Children with myelomeningocele who are continent have greater self esteem than children who are not continent. Adults with spina bifida identify concerns regarding continence as one of their major worries regarding sexual intimacy. [Edwards: 2004]

See Helpful Articles (below) for more information and the Patient Education section for articles about catheterization from the Intermountain Healthcare's education series.

Subspecialist Collaborations and Other Resources

Children with myelomeningocele and hydrocephalus are at increased risk for obesity. By the age of six, at least 50% of children with myelomeningocele are overweight, making movement more difficult and leading to further weight gain and deconditioning. Obesity also increases the risk of decubitus ulcers, makes continence of bladder and bowel more difficult to manage, and may lower self-esteem. Weight managment should start in the early years – prevention is easier than losing weight once obesity is present. See the NTD: SBA Fact Sheet on Obesity and Obesity Prevention (general).

Subspecialist Collaborations and Other Resources

Precocious Puberty
For unknown reasons, children with spina bifida and hydrocephalus often exhibit precocious puberty. Although precocious puberty is more frequent in girls (possibly as high as 50%, [Proos: 1996]), it also occurs in boys with myelomeningocele and hydrocephalus. Precocious puberty causes a number of physical and emotional problems in children who may already feel socially isolated and different. These problems include:

• an early pubertal growth spurt, followed by a change to adult bone structure and cessation of growth. Adults with spina bifida are shorter than the general population; this problem is more pronounced if they experienced precocious puberty, starting their growth spurt earlier and stopping growth earlier.
• increasing difficulty with feeling alienated and different
• changes that sometimes occur with adolescence, such as moodiness, increased aggressiveness in boys, and sexual readiness are experienced earlier than in children without spina bifida and at a time when families, friends, and schools may not be anticipating them. [Liptak: 2003]

Signs of precocious puberty should be watched for by the child, family, and the Medical Home. Early changes include testicular enlargement and the development of pubic hair and acne in boys, breast development in girls. If noted, the child should be seen by a pediatric endocrinologist to consider treatment. Testing may include bone age, ultrasound examination for uterine size, blood testing for elevated levels of sex hormones and pituitary hormones, and determination of the child's rate of growth.

If precocious puberty is already well underway, treatment may not be possible. Some patients and families and their doctors choose no treatment; others will choose medication to slow the process, usually leuprolide (lupron) that monthly injections. In addition to preventing precocious puberty, treatment delays the puberty-related growth spurt, allowing the child greater adult height. Gonadotropin-releasing hormone analogs have also been used to help children with spina bifida and precocious puberty attain greater adult heights. [Trollmann: 1998]

Sexuality and Reproductive Issues
Issues of sexuality and reproduction are important for the patient, the family, and the Medical Home, and should be addressed in visits with adolescents. Questions about fertility, for both males and females, are often asked when the family first hears they will have a child with spina bifida. Teens with myelomeningocele do not feel they are given enough specific information regarding sexuality. [Sawin: 2002] [Sawyer: 1999] Usual sources of reliable information about sexuality are not likely to address issues specific to those with physical or intellectual disabilities.

Intimate relationships are sometimes limited in adolescents with myelomeningocele due to concerns regarding body image and the fear of bowel and bladder incontinence. However, surveys find that many adolescents with myelomeningocele are involved in intimate relationships. [Verhoef: 2005] Adolescents with myelomeningocele should be taught that, like other adolescents, they may be fertile and are subject to sexually transmitted disease. Because of the risk of latex allergy, sexually active patients should be taught to use latex-free condoms. Because the effectiveness of latex-free condoms in preventing pregnancy and sexually transmitted diseases is still being studied, males with NTDs should use a latex-free condom inside a regular condom and females with NTDs should have their male partner use a latex-free condom over a regular condom. See Latex-free condoms (About.com) for more information. Both males and females with NTDs may have decreased sensation in their perineal and genital regions and must watch for skin breakdown that may occur with sexual activity. Many women with myelomeningocele are able to become pregnant, although fertility rates aren't known. A small percentage of women with small pelvises might have difficulty carrying a child to full term. See [Jackson: 2005] for a discussion of reproductive issues in women with spina bifida. There is little information available about the sexual response in women with myelomeningocele. Adolescent females with myelomeningocele should take folic acid because of the risk of spina bifida in their children, which is greater for mothers with spina bifida than it is in the general population. (See Folic acid supplementation in NTD and [Toriello: 2005].)

As many as 1 in 4 males with NTDs will have undescended testicles. [Meyer: 1984] Approximately 3/4 of males with myelomeningocele will be able to have erections, although most will experience them only from local physical stimulation rather than psychogenically. The ability to have and sustain an erection is related to the level of lesion; the lower the level, the more likely the male will be able to have an erection. Even with the ability to have an erection, many men with spina bifida will be unable to sustain it long enough for sexual intercourse. Erectile dysfunction drugs currently on the market have been very helpful. If those medications fail, various surgical interventions are possible. It is unknown how many men with myelomeningocele are infertile, and whether they are infertile because they experience retrograde ejaculation or because of decreased sperm counts or motility. Artificial insemination may be an option, using their own sperm. Fertility specialists should be consulted if these questions arise. [Sawin: 2002]

Subspecialist Collaborations and Other Resources

School issues should be closely followed, including progress, accommodations for learning problems, accessibility to all areas of the school, and a school health plan. An Individualized Education Plan (IEP) and a "504 Plan" should be developed and implemented for every child with a NTD – details on these can be found in Education & Schools under For Physicians & Professionals. See Learning problems in children with NTD for a discussion of their causes and see Services below for neuropsychology listings and educational resources.

For Parents and Patients

Educational Advocacy

Children's Education Services, more info...
100 N Mario Capecchi Drive
Salt Lake City, UT 84113
Phone: 801-662-4914
http://intermountainhealthcare.org/xp/public/documents/pcmc/school.pdf

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General Pediatric Surgery

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Genetics, Prenatal

Spina Bifida Clinic, more info...
100 Mario Capecchi Drive, Ste. 4400
Salt Lake City, UT 84113
Phone: 801-662-4949
Fax: 801-662-4931
http://intermountainhealthcare.org/services/pediatricrehab/symptoms-conditions/Pages/spina-bifida.aspx

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Neuropsychology

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Nutrition/Dietary

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Pediatric Dermatology

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Pediatric Endocrinology

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Pediatric Gastroenterology

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Pediatric Neurology

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Pediatric Neurosurgery

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Pediatric Orthopedics

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Pediatric Physical Medicine & Rehab

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Pediatric Plastic Surgery

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Pediatric Urology

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A maternal-fetal surgery trial (the MOMS trial) is currently underway (Description of MOMS trial for NTD (clinicaltrials.gov)) to compare outcomes in children with myelomeningocele operated on pre- vs. post-birth. Although this technique holds promise, and some evidence suggests that neurodevelopmental outcomes are improved [Johnson: 2006], the surgery has not proven to be the cure originally hoped for. Additionally, many bioethical questions regarding this surgery exist. [Lyerly: 2003]). The primary outcome measures of the MOMS trial are mortality and the need for shunting of hydrocephalus at one year of age. Secondary outcome measures include the incidence and severity of Chiari II malformation and neurodevelopmental outcomes.