GeneFacts

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Management

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General Management Issues

  • Prenatal diagnosis aids in maximizing the benefits of directed management
  • Management goals center on aiding growth and development, minimizing dysfunction , limiting disability, and avoiding complications
  • Ambulation is a primary aim --Level and type of lesion will determine possible outcome, from community ambulators to nonambulators.

First Steps After Confirming Diagnosis

Initial management is surgical, to avoid further nerve damage

Prenatal Care

  • The route of delivery of an affected child should be individualized. Data does not indicate one route as superior over others.
  • In-utero surgery to close the defect and limit nerve damage is performed in some centers

Neonatal Care

  • Open spinal cord must be covered within a few days of birth.
  • In the case of open spinal cord, antibiotic therapy may be needed to treat or prevent urinary, soft tissue, or central nervous system infections
  • Determine if there is a CSF leak; requires immediate surgical closure
  • Ventriculo-peritoneal shunt may be needed if hydrocephalus is present.
  • Evaluate renal function biochemically [UA, BUN, creatinine] and with US in newborn period.

Diet, Exercise, and Lifestyle Interventions

Diet

  • A higher residue diet may aid in bowel evacuation
  • Because of decreased muscle mass and risk of obesity, a low calorie diet is appropriate

Exercise

  • To maximize strength and mobility

Self-care

  • Bladder dysfunction can be mitigated with catheterization (intermittent or indwelling).
  • Manage bowel dysfunction with mild laxatives, enemas

Longitudinal Care

Follow-up Testing/Screening/Monitoring

Surveillance for clinical complications is a lifelong task

GrowthSleep disturbancesSleep study/evaluationAs needed
Table: Surveillance for Clinical Complication
SystemComplicationsTests/InterventionsFrequency
References:
Gastrointestina feeding difficulties, nutritional intake, bowel function Dietary intervention As needed
Gentiourinary renal function, urinary tract infections, bladder dysfunction, bladder or renal stones, reflux, hydronephrosis Cystometric studies for increased risk of renal failure and hypertension Completed by a few months of age
    Monitoring for motor, sensory, and autonomic dysfunction below the level of the lesion lifelong
    Avoidance of urinary retention which often leads to recurrent infections. lifelong
    daily intermittent catheterizations, anticholinergic medications, and some will need prophylactic antibiotics; Lifelong, dependent of lesion level
Musculoskeletal Joint contractures, scoliosis    
Skin Pressure ulcers-prevalence increases with age Surveillance for formation over bony prominences and dependent areas Lifelong, part of regular assessment
Neurological Shunt malfunction or infection, Spinal cord complications [hydromelia, tethered cord], Increased risk for hydrocephalus, monitor head circumference and developmental progress Developmental evaluation with referral to appropriate subspecialist Childhood-periodic assessment
Psychiatric      
Endocrine Osteoporosis DEXA periodic
  Precocious puberty-- Increased incidence in females with myelomeningocele and shunted hydrocephalus (Trollmann et al., 1996). referral to Ped Endocrinology for evaluation and possible treatment with GnRH analogues Childhood-clinical evidence can be found as early as 5 yo

Care Team Members

Required

  • If prenatal diagnosis:
    • Genetic counselor
    • High-risk Obstetrics/Maternal-Fetal Medicine specialist
  • Primary care physician
  • Neonatologist

Based upon clinical assessment of need

  • Neurosurgeon
  • Orthopedic surgeon
  • Nephrologist
  • Physical Therapist
  • Occupational Therapist
  • Urologist
  • Plastic Surgeon
  • Otolaryngologist
  • Pulmonologist
  • Dietician
  • Social Services
  • Gynecologist
  • Psychologist
  • Pain Management

Physical/Occupational/Speech/Developmental Therapies

  • Adaptive equipment can improve productivity, leisure, and social activities.
  • Speech and developmental therapy may be needed.

Psychology/Counseling

  • Social issues - schooling, driving, employment, and dating should be discussed with an appropriate counselor.
  • Psychological support as the individual ages.
  • The diagnosis can itself be a burden and cause guilt in parents. Counseling to reassure them of the multifactorial nature of this abnormality is important
  • The burden of this condition is multi-faceted with financial, emotional, as well as social constraints beyond health-related concerns. Provide adequate and timely services to meet these needs.
  • Individuals with spina bifida often have social adjustment difficulties and self-image issues that can impair their sense of well-being.

Medications

  • No contraindications specific to spina bifida.
  • Sildenafil has been studied and shown to be effective in treating erectile dysfunction (Palmer et al., 2000)

Surgery and/or Procedures

  • Referral to a surgeon for bowel dysfunction
  • Spinal cord tethering and re-tethering (after surgical correction earlier in life) may require surgery
  • Osteoarthritic/degenerative joint disease may develop in previously manipulated or sensory-impaired joints

Other Interventions

  • Pain management especially in adulthood due to various causes
  • Abnormal posture
  • Related to wheelchair propulsion
  • Tethered cord - non-surgical management

Treatments and Interventions to Avoid

  • Patients should avoid exposure to latex products [gloves, catheters, condoms] due to allergy
  • Chiropractic manipulation/massage (caution)
    • Chiari II malformation predisposes to injury with rapid neck twisting
    • The local area of defect in the spinal column is vulnerable to further injury from pressure or manipulation
    • If a ventriculoperitoneal shunt is in place, avoid damaging the catheter
    • Individuals with spina bifida may develop osteoporosis and so manipulation should take that into consideration.

Reproductive Implications

  • Precocious puberty in females with spina bifida and hydrocephalus
  • Women are believed to have normal fertility
  • Pregnancy outcomes for women with NTDs are generally good, but Cesarean sections are common
  • High-dose folic acid supplementation is recommended universally and, especially, for women with NTDs (Wald et. al, 1991)
  • Males commonly have erectile dysfunction, anorgasmia, retrograde ejaculation, and azospermia (Woodhouse, 2005, Bong and Rovner, 2007)
  • Neuromuscular abnormalities commonly impact sexual activity

Prognosis

  • Life expectancy is not necessarily affected [this is dependent on type and level of lesion] although life-threatening complications remain a lifelong risk.
  • Survival at 17 years is 78% with myelomeningocele.
  • In adulthood, because of risk factors such as obesity and sedentary lifestyle there is increased risk of cardiovascular disease (Buffart et al., 2008 and Dosa et al., 2009) as well as thromboembolic disease (Oakeshott et al, 2009)
  • Increased risk for sleep apnea (Liptak and El Samra, 2010)
  • More often central in early life, due to the Chiari II malformation (Juranek and Salman, 2010) while obstructive apnea is also an issue in adult life (Pasterkamp et al, 1989)

Presymptomatic or Asymptomatic Patients

  • Folic acid supplementation is recommended for all pregnant women with dosage varying by risk stratification (see Consensus Statements section above)

Consensus Statements and Guidelines

American Academy of Pediatrics: Guidelines for referral to pediatric surgical specialists [2002]