Diseases and Conditions: Neural tube defects, pediatric

Neural tube defects, pediatric

Revised: January 4, 2019

Overview
Congenital malformations along the neural tube system that involve the spine, spinal cord, skull, and/or brain
Result from the neural tube's failure to close about 28 days after conception
Classified as open (involving the entire central nervous system, with exposed neural tissue and leakage of
cerebrospinal fluid) or closed (localized and confined to the spine, with neural tissue covered by skin)
Types of defects: Spina bifida (50% of cases), anencephaly (40%), and encephalocele (10%)
Also known as spinal dysraphism and NTD

Pathophysiology
Spina bifida, the most common and least severe NTD, is characterized by incomplete closure of one or
more vertebrae without protrusion of the spinal cord or meninges. When defects of neural tube closure
occur, such as meningocele and myelomeningocele, an accompanying vertebral defect allows the
protrusion of the neural tube contents. (See Types of spina bifida.)
In encephalocele, a saclike portion of the meninges and brain protrudes through a defective opening in the
skull. Usually it occurs in the occipital area, but it may also occur in the parietal, nasopharyngeal, or frontal
area.
In anencephaly, the closure defect occurs at the cranial end of the neuraxis; as a result, part or the entire
top of the skull is missing and the brain is severely damaged. Portions of the brain stem and spinal cord
may also be missing. This condition is fatal.

Types of spina bifida

There are three major types of spina bifida (images available below):

Spina bifida occulta is characterized by a raised area and a tuft of hair over the defect.
Myelomeningocele is characterized by an external sac containing meninges, cerebrospinal fluid,
and a portion of the spinal cord or nerve roots.
Meningocele is characterized by an external sac containing only meninges and cerebrospinal
fluid.
Causes
Combination of genetic and environmental factors
Lack of folic acid in the maternal diet
 Exposure to a teratogen
Trisomy 18 or trisomy 13 syndrome or another multiple-malformation syndrome
Gestational diabetes

Risk Factors
Young maternal age at time of pregnancy
Hispanic ethnicity
Maternal hyperthermia during days 20 to 28 of gestation
Maternal obesity
Maternal history of diabetes
Parenteral history of previous child with NTD
Maternal use of certain anti-seizure medications

Incidence
The incidence of NTDs ranges from <1 to 7 per 1,000 births.
Anencephaly occurs more often in females than in males.
Myelomeningocele occurs slightly more often in females than in males.
Myelomeningocele in the U.S. population averages 3.1 cases per 10,000 children and varies by ethnicity,
gender, and region (more common in whites than blacks and in Hispanics than non-Hispanics).

Complications
Paralysis below the level of the defect (myelomeningocele)
Infection such as meningitis
Hydrocephalus (encephalocele and myelomeningocele)
Intellectual deficits (encephalocele and myelomeningocele)
Seizures (encephalocele and myelomeningocele)
Neurogenic bladder (myelomeningocele)
Lower extremity motor or sensory defects (spina bifida occulta)
Sphincter dysfunction (spina bifida occulta)
Scoliosis (spina bifida occulta)
Death (anencephaly)

Assessment

History
Maternal history revealing factors that cause the defect

Physical Findings

Spina bifida
Possibly a depression or dimple, a tuft of hair, a soft fatty deposit, port wine nevi, or a combination of
these abnormalities on the skin over the spinal area
Saclike protrusion over the spinal cord
Flaccid or spastic paralysis

Encephalocele
Saclike protrusion through a defective opening in the skull
Paralysis

Anencephaly
Part or entire top of the skull missing
Severe defect not compatible with life
Diagnostic Test Results

Laboratory
Levels of maternal alpha-fetoprotein (AFP), amniotic fluid AFP, and amniotic fluid acetylcholinesterase are
elevated, indicating the need for further testing.
Results of fetal karyotype analysis may show chromosomal abnormalities (present in 5% to 7% of NTDs).
Results of maternal serum AFP screening—combined with screening for other serum markers, such as
human chorionic gonadotropin (hCG), free beta-hCG, and unconjugated estriol (for mothers with a lower
risk of delivering a neonate with NTD and mothers who will be younger than age 341/2 at the time of
delivery)—estimate the risk of fetal NTD and possible perinatal complications (premature rupture of the
membranes, abruptio placentae, and fetal death).

Imaging
Ultrasonography (used when family history or abnormal serum screening results indicate an increased risk
of open NTD) isn't conclusive for open NTDs or ventral wall defects.
Spinal X-rays reveal spina bifida occulta.
Myelography results differentiate spina bifida occulta from other spinal abnormalities, especially spinal
cord tumors.
Skull radiography, cephalic measurements, and computed tomography (CT) scanning demonstrate
associated hydrocephalus.
X-rays show a basilar, bony skull defect; CT scanning and ultrasonography results further define the defect
(for encephalocele).

Other
Transillumination of the protruding sac distinguishes between myelomeningocele (typically doesn't
transilluminate) and meningocele (typically transilluminates).

Treatment

General
Symptomatic treatment according to neurologic effects of defect
Protection of the sac with meningocele or myelomeningocele
Assessment of growth and development throughout the child's lifetime

Diet
As tolerated

Activity
Based on degree of involvement
Physical therapy

Medications
Antibiotic prophylaxis as indicated

Surgery
Surgical closure of the protruding sac
Ventricular shunt placement to relieve associated hydrocephalus
Surgery during infancy to place protruding tissues back in the skull, excise the sac, and correct associated
craniofacial abnormalities (for encephalocele)
Nursing Considerations

Nursing Interventions
Provide psychological support; allow parents to verbalize concerns and feelings related to the defect and
loss of the “perfect” child.
Provide counseling to the parents of a child with anencephaly.
Encourage them to spend time with the child.
Allow grieving.

Before surgery
Clean the defect gently with sterile saline solution or other solutions, as ordered.
Handle the child carefully, and don't apply pressure to the defect; maintain the child in the prone or
supported side-lying position to prevent pressure on the sac.
Provide meticulous skin care to the area of the defect; keep the area free from urine or feces.
Cover the sac, if present, with moist sterile saline dressings or antibiotic-soaked gauze to prevent drying.
Provide adequate time for parent-child bonding, if possible; model positive parenting behaviors; point out
positive attributes of the child.

After surgery
Change the dressing regularly, as ordered, and check for and report any signs of drainage, wound rupture,
and infection.
Place the child prone or in a supported side-lying position to protect the surgical site.
Inspect the surgical site for healing and evidence of infection.
If leg casts have been applied, watch for signs that the child is outgrowing the cast. Regularly check
distal pulses to ensure adequate circulation.
Evaluate motor and sensory function and bowel and bladder function; perform intermittent urinary
catheterization as indicated.
Encourage the parents to participate in the child's care; offer positive reinforcement.

WARNING!

Children with myelomeningocele have an increased risk for latex allergy as a result of
multiple exposures to latex sources during surgery and bladder catheterizations. Use only
latex-free catheters and gloves to reduce the risk of an allergic reaction.

Monitoring

Before surgery
Neurologic status
Appearance, location, and condition of defect
Feeding ability
Nutritional status
Vital signs
Fluid balance status
Parental bonding and coping

After surgery
Signs and symptoms of infection
Signs of increased intracranial pressure (ICP)
Intake and output and fluid balance
 Vital signs
Neurologic status
Skin integrity, especially at the surgical site
Bowel and bladder elimination
Mobility status
Parental attachment behaviors

Associated Nursing Procedures

Oral drug administration, infant
Oral drug administration, older child
Oral drug administration, toddler
Postoperative care, neonatal
Preoperative care, pediatric
Preparing a patient for neurologic surgery, OR
Venipuncture, neonatal
Venipuncture, pediatric
Wound care, pediatric

Patient and Family Teaching

General
Include the child's family or caregiver in your teaching, when appropriate. Be sure to cover:
disorder, diagnosis, possible underlying causes, and treatment, including shunt placement or repair of the
sac
specific defect that the child has and its possible impact on future growth and development
measures to promote optimal mobility and self-care
skin care measures, including surgical site care and methods to reduce the risk of pressure ulcers
proper postoperative positioning techniques
bowel and bladder training, if appropriate
signs and symptoms of increased ICP, hydrocephalus, or both
signs and symptoms of urinary tract infection
need to avoid latex products if the child has myelomeningocele, including notifying health care providers of
the child's increased risk for latex allergy
need for ongoing evaluation and follow-up care to evaluate the child's condition.

Discharge Planning
Participate as part of a multidisciplinary team to coordinate discharge planning efforts. The team may
include a bedside nurse, social work, genetics counselor, care manager, nutritionist, neurosurgeon, and
primary care practitioner.
Assess the child's (if appropriate) and family or guardian's understanding of the diagnosis, treatment,
follow-up, and warning signs for which to seek medical attention. Explain the importance of scheduling and
attending all follow-up appointments. Try to coordinate follow up appointments in a multimodal fashion.
Confirm arrangements for transportation to initial follow-ups.
Ensure that the parents understand the treatment regimen, including dosage, administration, expected
results, duration, and possible adverse effects of the prescribed medication.
Ensure that the parents or caregivers (or whoever has been designated as the responsible party) are able to
obtain medications.
Ensure that the child and caregivers have been given the proper medical contact information.
Assess the child's and family or guardian's understanding of teaching by using the teach-back method,
when possible.
Document the discharge planning evaluation in the patient's clinical record, including who was present and
involved in discharge planning and teaching and their understanding of the teaching provided.

Resources
American Academy of Neurology: www.aan.com
Centers for Disease Control and Prevention: www.cdc.gov
 National Organization of Rare Diseases: www.rarediseases.org
Spina Bifida Association: www.spinabifidaassociation.org

Selected References
1. Dukhovny, S., & Wilkins-Haug, L. Open neural tube defects: Risk factors, prenatal screening and diagnosis, and
pregnancy management. (2018). In: UpToDate, Levine, D., & Simpson, L. L. (Eds.).
2. Goetzl, L. M. Folic acid supplementation in pregnancy. (2018). In: UpToDate, Wilkins-Haug, L. (Ed.).
3. Hockenberry, M. J., & Wilson, D. (2016). Wong's nursing care of infants and children (10th ed.). St. Louis, MO:
Mosby.
4. Jallo, G. I. (2015). “Neural tube defects” [Online]. Accessed December 2018 via the Web at
http://emedicine.medscape.com/article/1177162-overview
5. March of Dimes. (2018). “Neural tube defects” [Online]. Accessed December 2018 via the Web at
http://www.marchofdimes.org/complications/neural-tube-defects.aspx
6. McClone, D. G., & Bowman, R. M. Pathophysiology and clinical manifestations of myelomeningocele (spina
bifida). (2018). In: UpToDate, Patterson, M. C., & Weisman, L. E. (Eds.).
7. National Institute of Child Health and Human Development. (2017). “Neural tube defects (NTDs): Condition
information” [Online]. Accessed December 2018 via the Web at
https://www.nichd.nih.gov/health/topics/ntds/conditioninfo/Pages/default.aspx
8. U.S. National Library of Medicine. (2018). “Neural tube defects” [Online]. Accessed December 2018 via the
Web at https://medlineplus.gov/neuraltubedefects.html
9. Viswanathan, M., et al. (2017). “Folic acid supplementation: An evidence review for the U.S. Preventative
Services Task Force. Evidence synthesis No. 145” [Online]. Accessed December 2018 via the Web at
https://www.uspreventiveservicestaskforce.org/Home/GetFile/1/4292/folic-acid-evidencereview/pdf (Level
VII)