Patients with spina bifida require longitudinal urological care as they transition from childhood to adolescence and then to adulthood. Issues important to urological health, such as protection of the upper tracts and prevention of incontinence, need vigilant follow-up throughout the patient’s life. As the child ages, additional issues such as sexual functioning also become increasingly important for social integration. Despite this need for regular assessment, many adult patients with spina bifida lose coordinated urological care after leaving specialized pediatric spina bifida clinics. Consequently, urologists frequently encounter an adult patient with spina bifida in practice and they need to understand the basic urological treatment goals and potential complications for this population.
Myelodysplasia, also commonly known as spina bifida, is a general term that describes incomplete closure of the vertebral column and malformation of the embryonic neural tube. This condition is associated with a prenatal folate deficiency and may occur more frequently in genetically susceptible individuals or mothers exposed to hyperthermia during pregnancy. Although the estimated occurrence is 1 per 1000 births, the rate of spina bifida and anencephaly in the United States has been decreasing since the Federal Drug Administration mandated folate supplements to enriched grain products in 1998.
Spina bifida malformations fall into 3 general categories:
Spina bifida occulta: In this type, incomplete closure of the lumbar vertebrae is minor and the spinal cord contents do not protrude through the defect. Clinical signs include a skin abnormality over the vertebral defect, such as a mole, hair, or dimple. The estimated prevalence of spina bifida occulta is 12% in an otherwise healthy population. The condition is usually asymptomatic but can occasionally present with urinary pathologic conditions.
Meningocele: In this type, the meninges protrude through a vertebral canal defect but the neural elements of the cord remain confined within the canal. This type of herniation usually occurs posterior to the spine, but anterior herniation can also occasionally occur, particularly along the sacrum. Magnetic resonance imaging (MRI) is usually needed to identify the extent of the lesion. Patients with meningocele may exhibit a wide range of neurologic symptoms depending on the location of the defect.
Myelomeningocele (MMC): In this type, neural roots or segments of the spinal cord herniate through the incompletely closed vertebrae. When fatty tissues are protruding in addition to cord structures, the condition is subgrouped as a lipomyelomeningocele. MMC accounts for most of the myelodysplasia diagnoses, and the pathologic condition usually occurs in the lumbar or sacral region. Patients with lesions in the sacrum are frequently able to ambulate, whereas patients with lesions in the higher level have increasing probability of loss of lower extremity function. In addition, many children with MMC have associated cerebellar tonsil herniation (Arnold-Chiari malformation) and are at risk for mental compromise. In one retrospective series from 1975, 52% of patients with MMC with lesions above the L2 vertebra had mean IQ scores less than 70.
Management of pediatric MMC urinary pathologic conditions
Urological care is initiated soon after a child with MMC is born and is maintained throughout childhood. The goals of pediatric MMC urinary management can be roughly divided into (1) preservation of renal function and (2) promoting urinary continence.
Preservation of Renal Function
Untreated urinary storage and emptying pathologies in children with MMC can affect long-term renal function. Neurogenic bladder pathologies that commonly occur in patients with MMC include an elevated detrusor leak point pressure, vesicoureteral reflux (VUR), and detrusor–external sphincter dyssynergia (DSD). McGuire and colleagues first showed increased risk for upper tract dilation in children with MMC with detrusor leak point pressures greater than 40 cm H 2 O. VUR, particularly in female patients with MMC, has been shown to be a significant risk factor for renal compromise when associated with febrile urinary tract infections. DSD, if present, may cause or exacerbate elevated detrusor leak point pressures and VUR. In assessing 188 children with MMC using urodynamics, van Gool and colleagues noted bladder–external sphincter dyssynergy (with or without bladder overactivity) in 59% of children and found these children at a greater risk for having an elevated detrusor leak point pressure, low bladder compliance, and more severe reflux. Other investigators have also demonstrated these findings.
However, in children with spina bifida, neurologic lesions are not always stable and bladder pathologies change. Spindel and colleagues noted that 37% of 79 infants with MMC experienced external sphincter changes during the first 3 years of life, with the greatest number of changes occurring during the first year. Because urodynamic findings frequently change during longitudinal follow-up, serial urodynamic and upper tract evaluations are recommended every 6 months. Neurologic and urological changes may also occur because of a tethered cord. Fone and colleagues examined the outcome of tethered cord release on preoperative bladder pathologies on 28 patients with MMC and found improved detrusor overactivity or bladder compliance in 30% and worse urodynamic patterns in 48% of the patients. Only 14% of patients experienced improved urinary control after the procedure. Consequently, because preoperative urodynamics do not seem to predict urological outcome of tethered cord release, urodynamics and upper tract testing need to be performed at regular intervals after cord release to ensure bladder and upper tract safety.
Treatment plans for renal protection in patients with MMC have changed over the years. In the past, many children with MMC with voiding dysfunction were immediately treated with urinary diversion to preserve renal function. Shapiro and colleagues published 10-year outcomes on 90 children with MMC treated with ileal loop diversion and showed stable renal units in 69% of the patients. However, other investigators found increasing morbidity with diversions over time. Contemporary management for children with MMC with neurogenic bladder pathologies now focuses on lowering the urinary storage pressures with anticholinergic medication and avoiding elevated voiding pressures through clean intermittent catheterization (CIC). Using these principles, Kasabian and colleagues demonstrated normal renal function in 92% of children with MMC with voiding dysfunction treated with oxybutynin and CIC. Other investigators have noted a decreased need for surgical intervention among children with MMC treated with anticholinergics and CIC. Kochakarn and colleagues compared Thai children who were started on CIC at a mean of 7 months against a group of children started at a mean of 45 months and found that 27% and 14% of the early treatment group had hydronephrosis and underwent cystoplasty when compared with 58% and 32% in the late treatment group. However, investigators note that the efficacy of anticholinergic and CIC therapy needs to be monitored through urodynamics and patients followed up with only radiological evaluations may be at particularly high risk for upper tract compromise.
Despite the advances in behavioral and pharmacologic therapies, some children with MMC progress to urinary reconstruction for renal protection. Autoaugmentation (resection of the detrusor while maintaining mucosal integrity) has been attempted to improve urinary storage pressure, although outcomes have been inconsistent. Dik and colleagues evaluated 35 patients treated with autoaugmentation and noted improved bladder compliance in 16 and improved capacity in 13 patients. In contrast, MacNeily and colleagues reported a 71% failure rate for upper tract protection and treatment of incontinence in a series of 17 patients with MMC. Enterocystoplasty is a more common treatment for refractory bladder pressures greater than 40 cm H 2 O. In an epidemiologic study of Children’s Hospitals, 12,925 unique spina bifida cases were examined, and 5% of these children underwent enterocystoplasty. However, in a review of 226 studies on enterocystoplasty in patients with spina bifida, Scales and Weiner noted that enterocystoplasty outcomes were difficult to compare between institutions because investigators do not use consistent posttreatment endpoints. Despite these comparative limitations, multiple studies show that children with MMC treated with enterocystoplasty experience long-term renal stability and resolution of VUR.
Appendicovesicostomy or other continent urinary stoma procedures may also be performed to aid the neurologically compromised patient with MMC in performing CIC. Occasionally, the Malone antegrade continence enema procedure can be used to address concomitant bowel and urinary problems for the symptomatic patient with MMC. Hensle and colleagues reported good bowel and urinary continence with this technique, although the number of urinary stomal complications were significant.
Promoting Urinary Continence
Urodynamic studies have demonstrated a high rate of detrusor overactivity, DSD, and sphincteric incompetence in children with MMC, often resulting in involuntary urinary leakage. For children with MMC with DSD and detrusor overactivity, incontinence is treated by maximally relaxing the bladder with anticholinergics and then draining urine through CIC. Complications from this regimen are relatively uncommon, and CIC does not seem to greatly increase the risk of febrile urinary tract infections when compared with a sterile catheterization technique. Campbell and colleagues retrospectively reviewed CIC-related complications in patients with MMC and found an incidence of only 3.5 complications per 1000 patient-years. However, CIC can greatly affect family dynamics, and studies have shown decreased caregiver quality of life for patients with MMC treated with this technique. Similar to CIC anticholinergics are generally well tolerated, but Ferrara and colleagues noted a higher complication rate when the medication is given orally than in an intravesical route.
Botulinum toxin injections are a developing therapy for patients with MMC with urinary incontinence/retention from detrusor overactivity and sphincter dyssynergia, although there are few large series examining treatment efficacy. In one of the larger series, Akbar and colleagues reported outcomes in 19 children with MMC treated with 20 U/kg body weight of Dysport botulinum toxin A and noted significant improvements in bladder compliance, maximum detrusor pressure, and maximum bladder capacity over a 4.5-year follow-up. More research is needed to determine how botulinum toxin can be optimally used for the population with MMC.
Some children with MMC with symptomatic urinary incontinence caused by sphincteric incompetence may benefit from surgical reconstruction of the bladder outlet. Good outcomes have been reported with multiple techniques, such as suburethral or wraparound slings and bladder neck reconstructions or lengthening. Artificial urinary sphincters can also be used to treat sphincteric incompetence in children with MMC, and long-term data suggest reasonable efficacy but a relatively high complication rate. Kryger and colleagues reported that 13 of 47 children had sphincteric erosion or infection requiring explantation during a mean 15.4-year follow-up. Risk factors for erosion included previous erosion, prior bladder neck surgery, and a reservoir pressure greater than 70 cm H 2 O. In addition, in their series of 30 patients who were followed up over a mean period of 6.5 years, Spiess and colleagues noted that artificial urinary sphincter implantation rarely lasted longer than 8 years before requiring explantation. Endoscopic bulking agents have also been used to treat stress incontinence in children with MMC, although efficacy and duration of these agents are somewhat limited.
However, surgeons need to consider the possibility that tightening the bladder outlet in children with MMC may increase the risk for upper tract compromise in selected patients. Investigators have reported successful sling placement in selected children with MMC without compromising storage or voiding pressures. Austin and colleagues reported outcomes in 18 children with MMC treated with slings and found little change in detrusor leak point pressure after surgery (23.2 cm H 2 O both before and after). Likewise, Snodgrass and colleagues reported no detrimental urodynamic changes after bladder neck sling placement in children with MMC with preoperative detrusor pressures less than 25 cm H 2 O. However, Lopez Pereira and colleagues noted in their series that 31% of children undergoing artificial urinary sphincter placement developed significant physiologic changes in the bladder and ultimately required enterocystoplasty.
Adolescent issues
There is concern among practitioners that prostatic growth in male patients or estrogenization of the urethra in female patients during puberty may cause increased outlet resistance, which could then increase bladder pressures and place the upper tract at risk. Almodhen and colleagues evaluated 37 children with MMC treated conservatively and they found that puberty was associated with an increase in maximum cystometric capacity, detrusor pressure, and detrusor leak point pressure. However, no significant change in upper tract function was noted within this small population. There are few other studies that examine whether puberty does indeed increase risk of upper tract compromise in patients with MMC.
Many children with MMC also develop increasing concerns over body image as puberty approaches. Appleton and colleagues noted a relationship between body image and an increased propensity toward depression in adolescents with MMC, although depression is mitigated by a higher level of perceived parental social support. Concerns over body image or alternations in mood may cause decreased patient compliance in following CIC regimens, taking prescribed medications, or maintaining urological follow-up. Studies have shown that patients with spina bifida with urinary incontinence are at an even greater risk for lower self-esteem, particularly female patients. Consequently, urologists should attempt every effort to maintain regular follow-up schedules with children with MMC during adolescence so that incontinence issues can be addressed.
Sexual issues can become more prominent for patients with MMC during adolescence, particularly in male patients. In an assessment of 121 adolescents and young adults with MMC, women with MMC were 2.3 times more likely to be sexually active than men with MMC. This disparity is likely caused by the high prevalence of erectile dysfunction among men with MMC. Diamond and colleagues reviewed the neuroanatomy of 52 postpubertal men with MMC and found that only 14% of patients with lesions above T10 region and negative anocutaneous reflex could achieve erections. In addition, in a survey of 157 adolescent and young adult patients with spina bifida (age range 16–25 years), Verhoef and colleagues found that only 52% were satisfied with their sexual lives. Urinary incontinence, low self-confidence, and a history of hydrocephalus were identified as risk factors for lower sexual functioning. From this study it was concluded that sexual consoling should be included as part of regular adolescent urological care. Overgoor and colleagues reported successful treatment of erectile dysfunction in 3 patients with spina bifida with lumbar lesions by anastomosing the sensory ilioinguinal nerve to the ipsilateral dorsal nerve of the penis. More research will determine if techniques such as these offer long-term improvement for erectile dysfunction in patients with spina bifida.
Adolescent issues
There is concern among practitioners that prostatic growth in male patients or estrogenization of the urethra in female patients during puberty may cause increased outlet resistance, which could then increase bladder pressures and place the upper tract at risk. Almodhen and colleagues evaluated 37 children with MMC treated conservatively and they found that puberty was associated with an increase in maximum cystometric capacity, detrusor pressure, and detrusor leak point pressure. However, no significant change in upper tract function was noted within this small population. There are few other studies that examine whether puberty does indeed increase risk of upper tract compromise in patients with MMC.
Many children with MMC also develop increasing concerns over body image as puberty approaches. Appleton and colleagues noted a relationship between body image and an increased propensity toward depression in adolescents with MMC, although depression is mitigated by a higher level of perceived parental social support. Concerns over body image or alternations in mood may cause decreased patient compliance in following CIC regimens, taking prescribed medications, or maintaining urological follow-up. Studies have shown that patients with spina bifida with urinary incontinence are at an even greater risk for lower self-esteem, particularly female patients. Consequently, urologists should attempt every effort to maintain regular follow-up schedules with children with MMC during adolescence so that incontinence issues can be addressed.
Sexual issues can become more prominent for patients with MMC during adolescence, particularly in male patients. In an assessment of 121 adolescents and young adults with MMC, women with MMC were 2.3 times more likely to be sexually active than men with MMC. This disparity is likely caused by the high prevalence of erectile dysfunction among men with MMC. Diamond and colleagues reviewed the neuroanatomy of 52 postpubertal men with MMC and found that only 14% of patients with lesions above T10 region and negative anocutaneous reflex could achieve erections. In addition, in a survey of 157 adolescent and young adult patients with spina bifida (age range 16–25 years), Verhoef and colleagues found that only 52% were satisfied with their sexual lives. Urinary incontinence, low self-confidence, and a history of hydrocephalus were identified as risk factors for lower sexual functioning. From this study it was concluded that sexual consoling should be included as part of regular adolescent urological care. Overgoor and colleagues reported successful treatment of erectile dysfunction in 3 patients with spina bifida with lumbar lesions by anastomosing the sensory ilioinguinal nerve to the ipsilateral dorsal nerve of the penis. More research will determine if techniques such as these offer long-term improvement for erectile dysfunction in patients with spina bifida.
Transition to adulthood
As a result of advances in medical care, children with MMC are now surviving to adulthood in greater numbers. However, mortality still remains high. Oakshott and colleagues consecutively followed up 117 patients with spina bifida who were born between 1963 and 1971 and found that 33% of patients died before the age of 5 years and an additional 26% died over the next 35 years. Most common causes of death included epilepsy, pulmonary embolus, acute hydrocephalus, and acute renal sepsis. Mortality was particularly high in patients with neurologic lesions above T11 region. One possible reason for the increased mortality is that although care for the pediatric patient with MMC is carefully coordinated through urologists, neurosurgeons, orthopedic surgeons, primary care physicians, and social workers, once patients with MMC leave pediatric care or transition to independent living, many fail to reestablish regular follow-up. A study suggested that up to two-thirds of adults with spina bifida do not routinely seek regular urological follow-up. Consequently, it is recommended that adolescents begin the complex process of understanding their unique urological treatment plan and actively participate in establishing adult care.
Related posts:
Urodynamics of the Neurogenic Bladder
Review of Neurologic Diseases for the Urologist
Spinal Cord/Brain Injury and the Neurogenic Bladder
The Neurogenic Bladder and Incontinent Urinary Diversion
Botulinum Toxin Therapy for Neurogenic Detrusor Overactivity
Urologic Complications of the Neurogenic Bladder
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