What is the recommended approach for medical consultations and treatment of patients with spina bifida?

Medical Consultations for Spina Bifida

Patients with spina bifida require immediate urological consultation within the first week of life, with proactive management including early clean intermittent catheterization (CIC) and urodynamic testing at 3 months to prevent renal damage, alongside coordinated multidisciplinary care involving neurosurgery, orthopedics, and rehabilitation specialists throughout the lifespan. 1

Initial Neonatal Management (0-3 Months)

Immediate Urological Intervention

• Start CIC every 6 hours or place indwelling catheter immediately upon NICU admission or following back closure, aspirating bladder contents at each catheterization to prevent upper tract damage 1
• Teach family CIC technique before discharge 1
• Obtain renal and bladder ultrasound (RBUS) within 1 week or before discharge 1
• Stop prophylactic antibiotics after perioperative antibiotics are complete—no prophylactic antibiotics regardless of upper tract dilation degree 1

Catheterization Adjustment Protocol

• If catheter volume is <30 mL per catheterization for most catheterizations over 24 hours, increase interval to every 8 hours, then every 12 hours, then every 24 hours 1
• May stop catheterization only if: residuals <30 mL at most checks for 3 days AND RBUS shows <grade 2 hydronephrosis 1
• If criteria not met, continue catheterizations at frequency maintaining residuals <30 mL 1

Critical 3-Month Urodynamic Evaluation

• Perform videourodynamics (VUDY) or cystometrogram with voiding cystourethrogram (CMG + VCUG) by 3 months of age 1, 2
• If hostile bladder (end filling pressure or detrusor leak point pressure ≥40 cm H₂O, or neurogenic detrusor overactivity with detrusor sphincter dyssynergia): initiate CIC every 4 hours while awake PLUS oxybutynin 0.2 mg/kg orally three times daily 1, 2, 3
• Repeat VCUG or CMG at 6 months 1

Vesicoureteral Reflux (VUR) Management

• VUR Grades 1-4 with hostile bladder: Begin CIC, oxybutynin (0.2 mg/kg TID), and prophylactic antibiotics 1
• VUR Grades 1-4 with intermediate/gray zone or low risk bladder: No treatment 1
• VUR Grade 5 (regardless of bladder characteristics): Begin CIC, oxybutynin (0.2 mg/kg TID), and prophylactic antibiotics 1

Ongoing Pediatric Management (Ages 1-5 Years)

Annual Monitoring Protocol

• Take blood pressure at every visit 1
• Perform VUDY or CMG + VCUG annually at ages 1,2, and 3 years 1, 2
• Continue RBUS monitoring: quarterly initially, then transition to semiannual and annual 2, 4
• Assess serum creatinine annually—use Cystatin C-based eGFR rather than creatinine-based methods due to low muscle mass in spina bifida patients 4

Proactive vs. Expectant Management

• Evidence strongly supports proactive management over expectant approaches, involving early urodynamic testing and initiating CIC with antimuscarinics based on urodynamic findings before upper tract changes develop 1, 2
• Proactive management prevents renal damage and reduces need for bladder augmentation surgery 1
• Delaying neurosurgical closure past 72 hours increases incidence of febrile UTIs, vesicoureteral reflux, hydronephrosis, and worse urodynamic parameters 1

Neurosurgical Consultation

Hydrocephalus and Shunt Management

• Prenatal closure decreases need for ventriculoperitoneal shunting and improves lower extremity motor outcomes, though offset by increased preterm delivery and uterine dehiscence 1
• Adults with spina bifida require regular neurosurgery follow-up for hydrocephalus and Chiari-related symptoms including sleep apnea 5

Orthopedic Consultation

Musculoskeletal Monitoring

• Orthopedic problems are common and affect function, mobility, and in cases of spinal deformity, pulmonary function 6
• Regular orthopedic evaluation throughout childhood is essential for managing hip dysplasia, scoliosis, and foot deformities 6, 7

Bowel Management Consultation

Stepwise Approach to Fecal Incontinence

• First-line: Dietary modifications, laxatives, suppositories, and/or manual evacuation (successful in ~50% of patients) 8, 9
• Second-line: Retrograde enemas (75% success rate when medical treatment fails) 8, 9
• Third-line: Antegrade Continence Enema (MACE) procedure (77% achieve complete or near-complete continence, improved social confidence and independence) 8, 9
• Fourth-line: Colostomy for definitive management when other approaches fail—84% of patients would choose procedure again despite ~2% mortality risk 8, 9
• Refer to pediatric surgeon or colorectal surgeon with neurogenic bowel dysfunction experience 8

Reconstructive Urological Surgery Considerations

Bladder Augmentation Indications

• Reserved for hostile bladders unresponsive to medical management 1
• Ileum is preferred segment in absence of chronic kidney disease, pelvic/abdominal radiation, inflammatory bowel disease, or short gut syndrome 1
• Gastrocystoplasty is NOT first-line therapy due to 2.8% metastatic adenocarcinoma risk and 60% intractable hematuria-dysuria syndrome 1
• Significant complications include infection (37%), stones (52%), small bowel obstruction (10%), bladder perforation (6%), and increased tumor incidence requiring debated screening cystoscopy 1

Bladder Neck Procedures

• For incontinence due to outlet issues, bladder neck procedures include autologous fascial sling, creation of long narrow channel, or artificial sphincter 1
• 45% of patients undergoing isolated bladder neck procedure subsequently require enterocystoplasty 1
• Many surgeons create catheterizable channel concomitantly to facilitate reliable bladder emptying 1

Transition to Adult Care

Critical Transition Period

• Trust and personal relationship with pediatric urologist are most important factors in successful transition to adult care 1
• Structured transition program with meetings including both adult and pediatric medical/nursing staff together greatly improves satisfaction 1, 8
• Address obesity, sexual dysfunction, cognitive challenges, depression, impaired mobility, incomplete continence, insurance issues, and loss of support systems 1

Sexual Function Counseling

• Erectile, ejaculatory, and/or orgasmic dysfunction is common due to neurological deficits 1
• Sildenafil improves erectile function in 80% of males with spina bifida 1
• Only 23-39% of patients report having sexuality discussion with physician—this must be addressed 1

Preventive Health Monitoring

Routine Adult Surveillance

• Screen for hypertension, hyperlipidemia, and cancer using adapted general healthcare screening recommendations 10, 5
• Monitor for obesity, metabolic syndrome, musculoskeletal pain, pressure sores, and lymphedema 10, 5
• Regular follow-up with urology, neurosurgery, and physiatry specialists benefits almost all adults with spina bifida 5

Common Pitfalls to Avoid

• Never use creatinine-based eGFR—always use Cystatin C-based eGFR due to low muscle mass 4
• Do not delay neurosurgical closure beyond 72 hours—intervention within 24 hours improves bladder outcomes 1
• Do not use expectant management approach—proactive urodynamic testing prevents irreversible renal damage 1, 2
• Recognize that up to 50% of patients followed conservatively with CIC ± pharmacotherapy through puberty spontaneously achieve continence 1
• Fecal incontinence has greater quality of life impact than urinary incontinence due to more noticeable odor—address bowel management aggressively 8, 9
• Recognize executive dysfunction and nonverbal learning disability impact on self-management, independent living, and employment 5