Care of the Child with Neural Tube Defect:
The Spina Bifida Program at CDRC

Mark J. Merkens, M.D.Director, Spina Bifida Program
Child Development and Rehabilitation Center
Associate Professor of Pediatrics
Oregon Health & Science University
Portland, Oregon
Originally published in The Doernbecher Journal Vol. 3 (1), Spring 1997. p22-25.

Funded in part through NEXT STEPS: The Oregon Spina Bifida Project: building a community-based health delivery system for children with special health care needs. Grant # MCHJ-415087, Maternal and Child Health Bureau.

It won't happen very often in the primary provider's career--the birth of a child with neural tube defect (NTD). The rate in Northwestern states is 1 per 2,000 live births. Here are some suggestions for that eventuality and a review of current resources.The implications of the timing of the diagnosis of a pregnancy with an NTD are significant. When made prenatally by MSAFP or ultrasound, consideration will be given to route and site of delivery. Studies have suggested that C-section will limit the level of neurologic deficit; other studies do not confirm this finding. (Luthy, et al) Mother needs to know the risks of vaginal delivery vs. C-section, to herself as well as to the newborn.

With a prenatal diagnosis, the parents are best served by referral to a tertiary center for prenatal preparatory consultation and perhaps for delivery. Members of a spina bifida program team will provide the parents with an accurate projection of outcome and function. When indicated (as in the majority of such pregnancies), delivery in the tertiary center precludes the need for transport as well as facilitates earlier closure of the defect. Postnatal evaluation by the numerous subspecialists experienced in these conditions can be more efficiently coordinated and prioritized. Delivery at the site of neonatal care also facilitates numerous emotional transitions including maternal bonding, participation in care decisions, diminishment of fear and imagination, and relations with the tertiary team members who will be working with the parents for years to come. In our experience, informed expectant parents cope well with the postnatal course having been armed with information, appropriate reassurance, and time to adjust their expectations.

Despite the broad use of various forms of prenatal screening, still the majority of NTDs present unexpectedly at birth. Over ninety percent occur without previous family history. Maternal serum alpha fetal protein (MSAFP> is often recommended only by those who would consider pregnancy termination. A positive MSAFP screen can also be an indication for delivery at the tertiary center for better perinatal outcome.

In our experience many obstetricians report false negative MSAFP screening results in babies transferred for surgery; we believe this results from the lack of standardization in pre- and post-test counseling, and the use of many labs. We are currently investigating screening practices within the state with an eye toward improved predictive values of this important prenatal test.

So, the practitioner is most likely to be faced at birth with an unexpected congenital anomaly. The most important words to say at the baby's birth are: "Congratulations on the birth of your child!" Theses words extend joy, optimism, reverence, respect, acceptance, and nonabandonment. This simple step facilitates parental interest, learning, and care provision. We believe that parental coping and participation in their child's care and rearing are more significant determinates of the child's functional outcome than the level or severity of the NTD.

In the case of the open myelomeningocele the CSF is exposed to infection. After brief viewing of the lesion by the parents for their information, and by the provider for description to the consultants, the lesion should be covered for protection till surgery. Bandaging must provide a barrier to infection as well as to trauma and desiccation. Cover the sack with sterile 4x4, moisten with sterile saline, and encircle the trunk with securing bandage roll. Then cover the entire dressing with plastic wrap (e.g. Saran wrap®). Intravenous antibiotics are started to prevent meningitis. (Noetzel) An adhesive plastic surgical field drape taped over the buttocks deflects feces away from the back--we call it a "mud flap."

Time now to arrange transport of the neonate to the tertiary center that has a complete Spina Bifida Team. Because this condition is relatively rare, even specialist physicians are not familiar with associated acute and chronic medical conditions to be diagnosed and treated in children with myelomeningocele and other forms of spina bifida. Current overall mortality in children served at a comprehensive tertiary university medical setting is as low as 8% and continues to improve. (Shurtlef, et al.) Even care at a tertiary setting is not adequate; coordinated, comprehensive interdisciplinary services are imperative.

The Spina Bifida Program

The Spina Bifida Program at the CDRC is just such an interdisciplinary program for Oregon. Our Program is the regional referral provider, serving 300 children and adults at two CDRC sites (Portland and Eugene campuses) and three community-based demonstration sites throughout the state. Our interdisciplinary team approach assures close communication and coordinated care across disciplines. Working with specialists at Doernbecher, the Program has been in existence since the promulgation of the concept of comprehensive team programs over three decades ago. Of course most of the players have since changed, but the current program staff have been working together for over eight years--demonstration enough of the commitment to these children and their families and evidence of the accumulated experience.

The Team consists of the Core group of CDRC-based providers as well as Doernbecher based subspecialist surgeons. The Core Team is made up of a Developmental Pediatrician, Nurse Practitioner, Registered Nurse, Medical Social Worker, and Physical Therapist. Other CDRC based specialties available for consultation are occupational therapy, special education, audiology, and speech therapy. They address family, community, behavior, education and development issues. The team of subspecialists include pediatric neurological, urological, and orthopedic surgeons.

The overall goals of the Program are attaining and maintaining optimal health status, preventing secondary disability, maximizing potential to participate in society, and fostering independence.

Care at Doernbecher Neonatal Care Center (DNCC)

Though some centers have shown that outcome is not altered by delaying up to 4 days (Charney, et al.), closure of a myelomeningocele within 48 hours is the current standard. This allows sufficient time for professionals to evaluate and for parents to consider options. It is not the scope of this discussion to address the ethics of withholding surgical closure of NTDs; suffice it to say that so-called selective treatment espoused by some British surgeons in the early 1970's yielded less satisfactory outcome than the American approach of vigorous intervention for all. The current practice is to consider withholding only in the face of projected profound retardation because of severe deformity of the CNS (e.g., holoprosencephally, single undifferentiated ventricle), associated complex life threatening birth defects such as uncorrectable cardiac conditions, or chromosomal syndromes known to severely truncate survival (e.g., trisomy 13 or 18).

If the infant has stigmata of such conditions, Genetics consultation is obtained. Bone marrow aspiration for immediate karyotyping is carried out by the hematologists. Karyotyping can be completed within four hours. The geneticist or developmental pediatrician may make the clinical diagnosis of associated conditions such as Fetal Alcohol Syndrome (FAS), Valproate Syndrome, Velo-cardio-facial Syndrome (VCF or Catch-22, now known to be caused by the same 22q11 deletion as DiGeorge Syndrome; see Nickel, et al), or other chromosomal disorders.

Enter the Neurosurgeon. The spinal lesion is examined and plans for surgical closure are prepared. In the case of skin covered sacks or unusual anatomy, the type of defect is diagnosed by ultrasound or MRI: is it a myelocystocele, split cord (diastematomyelia) or sacral agenesis or dysgenesis? Certainly the most important intervention in the neonate is surgical closure of the open NTD itself. Large defects may require lateral releasing incisions to allowing skin coverage, with grafting from a donor site such as the thigh. This may be done in conjunction with the plastic surgeon. On the other hand, defects which are skin covered can be electively explored and nerve cords repositioned when the neonate is physiologically more stable. Drs. Nathan Selden and Daniel Guilluame, faculty in Neurosurgery and Pediatrics at OHSU, operate on more than six neonates with variants of NTD in Oregon yearly.

Meanwhile, head growth is followed closely. For patients with myelomeningocele, head ultrasound is immediately available to evaluate ventricular size, thus to clarify the possible need for immediate drainage of hydrocephalus or serve as baseline for monitoring CSF fluid dynamics in following weeks. Chiari II malformation is found in almost every case of classical NTD and is monitored for life threatening symptoms of brainstem compression such as respiratory failure. Herein is the most common cause of mortality in myelomeningocele, occurring in the first 3 months. (Worley, et al.) Closure of the dural defect often results in changes of CSF dynamics, resulting in insufficient drainage, causing hydrocephalus. Upwards of 85% of children with myelomeningocele defects come to ventricular-peritoneal (VP) shunting within the first 3 months. (Shurtleff, et al.)

For the week following closure of the NTD defect, the infant is laid prone for healing. Many other evaluations are delayed until movement can safely be carried out. Then the Urologist, Orthopedist, and therapists will be consulted.

The urinary system is evaluated for infection, obstruction, reflux, or dysgenesis. Chief of the Division of Pediatric Urology, Dr. Steven Skoog, is the Team Urologist. Urinalysis and culture are obtained. Postvoid residuals are noted by catheterization after wet diapers; volumes of more than 20 cc's show insufficient emptying, necessitating clean intermittent catheterization (CIC) until further urodynamic evaluation, or improvement. When the baby can be lain supine, renal ultrasound is obtained. Any abnormal anatomy must be clarified by renal scan; anomalies such as UP obstruction, hydronephrosis or hydroureter must be clarified with voiding cystourethrogram (VCUG). Urodynamics, the newest tool, measures bladder pressures, responsiveness, and neurologic control. (Borzyskowski) The mechanism may be detrusor dyssynergia or transient spinal cord shock. Once the system is evaluated, plans are laid out for prevention of infection and reflux damage--does the infant require intermittent catheterization, preventive antibiotics, release of obstruction, ureteral re-implantation or even cystostomy?

The Orthopedist is called to evaluate the hips for dislocation, the feet for clubbing, and the ankles for displacement secondary to asymmetrical muscle dynamics. Casting or tenotomy may be indicated. The orthopedic problems of the child with spina bifida are unique to the variable neuromuscular deficits and are best served, like the other organ system problems, by subspecialist expert in the specifics of this condition. Currently we refer these Orthopedic problems to Michael Aiona at Shriners Hospital for Children. Simultaneously, Will Foran, PT will evaluate movement range and quality and prescribe home therapies programs and stretching exercises to be carried out by parents. Together these professionals will lay out future surgeries, braces, casting, and plans for mobility.

In the nursery the bowel pattern is observed and evacuation program started if required. Program nurse Wendy Votroubek, RN., MPH and Nurse Practitioner Cathleen Amen, PNP will draft a full plan of care to teach the parents and coordinate with home visiting nursing agencies. They will be the first contact for access to health services by families. Social Worker Barbara Dworschak will review family health insurance, resources, services, coping as well as community and home support.

As discharge from DNCC approaches a review informing session is held with the parents and other interested relatives. Developmental Pediatrician Dr. Mark Merkens reviews findings and recommendations from the numerous consultations to assure parental understanding. Long term prognosis for survival, ambulation, and independence are outlined. (McLaughlin, 1979) Folic acid recurrence prevention is prescribed. The goals of fostering parental coping and participation are enhanced. Parents are affirmed of their growing knowledge, even expertise. Necessary resources including primary pediatrics (see Colgan), tertiary subspecialty services, the Spina Bifida Program Team, community developmental services such as Early Intervention, and social services are reviewed. This final session is always intense, in volume of information shared as well as in emotional transitions. This approach maintains optimism with realism, family empowerment and eventual independence of the child.

Thus, in a supported fashion, the parents of the newborn with Neural Tube Defect assume care of their child with complex medical problems. Ongoing services are transferred to the ambulatory setting at the CDRC.

Lifelong Services at the CDRC

The Spina Bifida Program follows a protocol for monitoring status throughout the life span. Based on standards recommended by the Spina Bifida Association of America (SBAA), this protocol focuses on:

• helping the children negotiate the developmental stages;
• helping children reach and maintain independence;
• preventing the known medical complications.

Children are seen three to four times in the first year, biannually through age three, then annually even through adulthood. By these protocols preventable complications are discerned in the earliest possible stages when correction can still be achieved. The current standard of treatment and prevention is that continued loss of functional ability may be the natural history but is totally preventable.

The CDRC does not, however, provide primary medical care. After the stay in the DNCC, the primary medical care of the child returns to the primary physician. The Spina Bifida Program works hand-in-hand with primary providers to work within health plans, evaluate intercurrent illness, and coordinate and liaison about long term management. The working relationship is indispensable to both levels of health care and to the families.

The day-to-day longitudinal management is done by the Nurses. They are the true experts on bowel and bladder programs that provide social continence. Family access to specialized services and liaison with community agencies flows through their telephones. Prescriptions, forms, and consultations are funneled to the Pediatrician.

Multiple modalities have improved monitoring of the central nervous system. The CT scan has enhanced evaluation of shunt failure such that failure can now be diagnosed before clinical symptoms present. Dr. Piatt has shown that pumping the shunt is not diagnostic of VP shunt function.; he works closely with the Educational Specialist and Child Psychologists to discern early mild cognitive changes even before the onset of classical physical signs. (Piatt) The entities of low lying cord, tethering and syrinx have been recently visualized through use of the MRI; neurosurgery prevents further loss of peripheral neurological function from chronic pressure, scaring, adhesions, or regrowth of lipoma tissues on the spinal cord. After the advent of the ventricular shunt, renal failure became the primary cause of morbidity and mortality. Close monitoring of renal function as well as the use of clean intermittent catheterization have improved that picture; social continence can be achieved in most. (McLaughlin, 1996.) Intelligence falls within normal ranges in eighty-five per cent of these children. Greater attention can now be focused upon efficient mobility. Our newest concern is eventual sexual function of the adult male. (Sandler, et al.)

Weekly clinic at CDRC in Portland surely appears chaotic to the visiter. Six children are seen for full evaluations as per the program protocol by every member of the team. Typically another ten are seen by only some of the team for specific intercurrent problems. Up to ten health care workers, the program coordinator, a couple residents and a few students (medical, nursing, and therapy) are buzzing around the small nursing station like worker bees tending the hive. But in this unique hive there is no queen; this team is interdisciplinary, collegial. So much business is attended to as persons pass and discuss needs and recommendations. Finally after five hours, the Core Team settles around a conference table to review order sheets, discuss psychosocial situations, review developmental status, and lay out recommendations for the next phase of each child's management. Care goals are shaped by the developmental stage of the child. The timing of social continence, mobility, and surgeries are so determined. Here is where coordination occurs--the readjustment of individual professional goals to achieve a unified prioritized care plan with monitoring.

A similar but smaller team is based at the CDRC on the University of Oregon campus, under the direction of Developmental Pediatrician Dr. Mario Petersen. Our Spina Bifida Program is widely recognized and has received two Federally funded MCH demonstration projects training community-based providers and delivering services in innovative ways in rural settings.

The efficacy of a spina bifida program can perhaps be best highlighted through comparison with failure. Disbanding a university-based coordinated clinic in a Midwestern city resulted in the occurrence of preventable morbidity in two-thirds of children within five years. Conditions such as renal failure, osteomyelitis, pressure sores, orthopedic deformity, amputation, cognitive and neuromotor deterioration were simultaneously prevented in a comparison (control) tertiary medical center program. (Kaufman, et al.)

Since the 1960s' mortality rates have completely reversed: from 15 % long term survival to the current projections that over 85% of persons born with NTDs will survive as long as healthy peers. (Shurtleff, et al.) A Spina Bifida Team enhances not only survival but independence, function, resilience. In Oregon the Spina Bifida Program at the Child Development and Rehabilitation Center provides those extra benefits.

References

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Kaufman BA, Terbrock A, Winters N, et al. Disbanding a multidisciplinary clinic: Effects on the health care of Myelomeningocele patients. Pediatr Neurosurg 21: 36-44; 1994.

Luthy DA, Wardinsky T, Shurtleff DB, et al. Cesarean section before the onset of labor and subsequent motor function in infants with meningomyelocele diagnosed antenatally. NEJM 324 (10), 662-666; March 7, 1991.

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Piatt JH. Physical examination of patients with cerebrospinal fluid shunts: Is there useful information in pumping the shunt? Pediatrics. 89 (3). p. 470-473. March 1992.

Sandler AD, Worley G, Leroy EC, et al. Sexual function and erection capability among young men with Spina Bifida. Dev Med Child Neuro 38 (9) 823-829. September, 1996.

Shurtleff DB, Dias L, McLone D, McLaughlin JF. Early Management of Meningomyelocele. American Academy of Cerebral Palsy and Developmental Medicine, October 11, 1991.

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