From the Guidelines
Spina bifida patients should receive early urological involvement to improve their quality of life (QOL) and transition to adulthood, with a focus on protecting renal function, improving urine and fecal continence, and promoting independence. The management of spina bifida has evolved over the years, with recent advances in prenatal surgery demonstrating the possibility of prenatal closure of spina bifida 1. However, the impact of prenatal intervention on future bladder function remains unclear.
The current literature suggests that both expectant management and proactive approaches can protect children from renal injury, although delayed intervention may increase rates of bladder augmentation 1. Surgical intervention is indicated for those at risk for renal deterioration and/or for children who fail to achieve satisfactory continence with medical management. Traditionally, surgery concentrates on the bladder and bladder neck, and creation of catheterizable channels 1.
Recent advances in tissue engineering technology may provide an alternative to traditional augmentation, but current results from phase II trials using engineered bladder tissue are disappointing 1. Catheterizable channels to the bladder and ascending colon can facilitate continence measures and promote independent living 1. The goal of treatment should be to improve QOL, with current techniques for reconstructive surgery having good outcomes for primary goals, but also being associated with significant morbidity 1.
Key considerations in the management of spina bifida include:
- Early urological involvement to improve QOL and transition to adulthood
- Protection of renal function and prevention of renal deterioration
- Improvement of urine and fecal continence
- Promotion of independence and self-management
- Consideration of surgical intervention for those at risk for renal deterioration or who fail to achieve satisfactory continence with medical management
- Exploration of alternative treatments, such as tissue engineering and neuro-modulation techniques, to provide viable alternatives to surgical treatment 1.
From the Research
Definition and Prevalence of Spinal Bifida
- Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement 2.
- The most clinically significant subtype is myelomeningocele (open spina bifida), which occurs in approximately 1 per 1,000 births worldwide 2.
Causes and Risk Factors
- The genetic component of spina bifida is estimated at 60-70%, but few causative genes have been identified to date 2.
- Non-genetic maternal risk factors include reduced folate intake, anticonvulsant therapy, diabetes mellitus, and obesity 2.
Treatment and Management
- Primary prevention by periconceptional supplementation with folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries 2.
- Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II brain malformation, hydrocephalus, and urological and orthopaedic sequelae 2.
- Fetal surgical repair of myelomeningocele has been associated with improved early neurological outcome compared with postnatal operation 2.
- Orthopedic or musculoskeletal problems are common in individuals with spina bifida, and treatment guidelines have been developed to address these issues 3.
- Health promotion and preventive health care guidelines have also been developed to address the unique lifelong medical and social needs of individuals with spina bifida 4.
Hydrocephalus Management
- Symptomatic hydrocephalus is a common condition associated with myelomeningocele (open spina bifida) 5.
- Treatment options for hydrocephalus include ventriculo-peritoneal (VP) shunt, endoscopic third ventriculostomy (ETV), and conservative management 5.
- A study found that simultaneous VP shunt with repair of the meningomyelocele was feasible and did not result in a higher rate of complications compared to staged surgery 6.