Spina Bifida

Mortality

As noted, in general, both early and late survival has improved over the past 20 years. There are few data­bases that maintain statistics for specific disability diagnosis groups, but there are databases that involve specific sites of care for programs serving people with SCD.

Functional Status and Mobility

There are no large studies to identify change in func­tion over time. Most studies identify mobility based on defect level without regard for American Spinal Injury Association (ASIA) levels or declaration of com­plete or incomplete function. Lower lesions are asso­ciated with higher walking abilities, with or without aids (92,94). A small cohort of adults with sacral-level myelomeningocele was noted to have maintained their walking abilities for low-sacral lesions, and almost 90% maintained walking in the high-sacral group (95). Complications reported included scoliosis, oste­omyelitis, amputations, and spinal tethering. A single small study in the Midwest identified that across the spectrum of SB, mobility decreased from early child­hood to early teen years (92). At least three-fourths who walked during their teen years continued walk­ing as adults.

The associated cognitive effects of SB influence the level of functional independence in adults. A small cohort report showed that most young adults with hydrocephalus and lesions at L2 or above were depen­dent for sphincter control, locomotion, and self-care, with an additional number requiring assist with trans­fers and social interaction and communication (96).

Perceived health for a group of young adults in the Netherlands was related to physical functioning, as would be expected using a tool standardized for the general population, not for disability (98). Of interest was that the domains associated with emotional health did not differ from the population group. Using the Life Satisfaction Questionnaire, again in the Netherlands, highest proportion of dissatisfaction was with finan­cial situation, partnership relations, and sex life, and those with hydrocephalus were less satisfied with self­care ability and partnership relationships than those without hydrocephalus (99). Overall, the presence of SB does not appear to be an important determinant of life satisfaction.

Urology/Nephrology

Urinary and renal issues are common health problems for those with SCD. Renal damage and renal failure are among the most severe complications in SB (100), and contributes to early and late mortality.

In general, typical strategies for management of neurogenic bladders are used with goals of prevent­ing UTIs, preventing renal calculi, managing detrusor pressures to prevent upper tract problems, monitoring renal function to prevent renal failure, and assuring continence. Clean intermittent catheterization (CIC) is an effective long-term management strategy for properly selected persons with neurogenic bladders from SB (100,101), usually concomitant with medica­tions. However, there is no consensus for the evalu­ation, follow-along studies, and general management or management of bacteriuria among SB programs responding to a national U.S. survey (102), and there is no data about long-term outcomes. Renal function, as measured by creatinine (Cr) clearance, intravenous pyelogram (IVP), ultrasound, or scan, has been found to be normal in 47.7% of patients with SB and abnor­mal in 46.1% (94).

For adults with SB, almost 60% of hospital admis­sions are for urologic reasons, with neurologic prob­lems accounting for almost 21%, and dermatologic problems almost 20%. Of the urologic admissions, almost half of these were for conditions such as UTI and renal calculi (104). In one study, urinary tract stones were responsible for about 30% of all renal compli­cations (93). Repeated UTI, along with pyelonephritis and an already compromised kidney, can lead to acute renal failure with loss of nephrons. Unfortunately, by the time the serum creatinine begins to rise, the patient will have already lost up to two-thirds of their nephrons (105). It is important to note serum Cr is dependent on muscle mass, so in adults with SCD who often have low muscle mass, the serum Cr may not be indicative of the true renal function (106).

A study comparing long-term urologic outcomes among children and adults with neural tube defects noted the type of neural tube defect influenced the urologic outcome (107). Neurogenic bladder was seen in practically all those with myelomeningocele (MMC), with caudal regression syndrome (CRS) at >50% and spinal lipoma (SL) at 40 cm H2O) in their bladder with the storage of urine at normal volumes.

Musculoskeletal

Level of motor function and musculoskeletal abnor­malities are typically the areas of concern during growth and development, and often changes are not anticipated during adult years. Pain is a common com­plaint, and may be related to musculoskeletal issues, although in SB, tethered cord must be considered.

Overuse syndromes are common for wheelchair users, and have been identified in adults with SCI at shoulders, wrists, and hands.

Scoliosis is common in SB, and is a common con­tracture noted in adults. It rarely progresses in adult­hood. Spinal fusion has usually been performed prior to adulthood, but does not appear to improve the qual­ity of life for those with SB (69). A combined anterior and posterior approach is reported to be more effec­tive in older adolescents and adults with pelvic obliq­uity (123). Seating difficulties, back pain, and pressure ulcers arise from the scoliosis and pelvic deformities. Adults with SB report back pain less frequently than those with SCI, although, in general, pain complaints increased with age. In adults with SB, back pain may presage tethered cord.

Hip dislocation is related to thoracic or high lum­bar neurologic-level abnormalities, and hip contrac­tures notable in high neurologic level, but also in thoracic and high lumbar levels (124). There are no published reports of hip or knee pain in adults with SB, although this should not be unexpected in those who walk, given muscle imbalances and poor skeletal alignment. Charcot joints can be seen given the lack of sensation and muscle imbalances, especially in adults with SB, especially with lower-level defects (95).

Osteoporosis with associated fractures has become an area of interest and evaluation. For adults with SB, the high incidence of renal dysfunction is an added component for osteoporosis, given that renal dysfunc­tion can lead to impaired bone mineralization (105). Renal dysfunction can also lead to metabolic acidosis as well as hyperparathyroidism; there may also be hyperphosphatemia, which can enhance the second­ary hyperparathyroidism.

Fractures may be more concerning than the risk factor of osteoporosis. Few studies detail incidence and prevalence. In an SB program cohort in upstate New York, where the vast majority is adults and late adolescents, the overall fracture prevalence was 200/1,000, most common during adolescence and least likely during adulthood. In comparing adult and childhood fractures, there was no significance to sex, body mass index (BMI), defect level, functional inde­pendence, shunted hydrocephalus, epilepsy, or other congenital anomalies (126). It has also been noted that patients with a higher level of defect have more of a risk for fractures (125,126). Most of the fractures reported in SB involved the tibia or femur, with 75% occurring in children after casting for an orthopedic procedure (127). Postorthopedic procedure and fracture manage­ment must be tailored to the situation. Environmental modifications to prevent fractures may be more effec­tive than pharmacologic interventions (126).

Neurologic

Adults with SB are at an increased risk for neuro­logic complications because of the pathophysiology of their disability. Among the neurologic abnormal­ities seen in SB, the most common for which to mon­itor are hydrocephalus, Arnold-Chiari malformation/ hydrosyringomelia complex, and tethered spinal cord.

Adults with SB can have worsening neurologic symptoms from progression of an Arnold-Chiari mal­formation, with or without the hydrosyringomyelia complex. Presenting symptoms in adults with SB may not be those seen typically with brainstem compres­sion, but may include upper limb weakness, sensory symptoms or reflex changes, ataxia, and lower cranial nerve palsies (94). Outcomes postsurgical intervention vary, including some level of recovery, stabilization of symptoms, further deterioration, and even death.

Tethering of the spinal cord can be seen at any age for those with SB who report changes in bladder or bowel habits, increase in leg weakness, change in sensory level, onset or increase of spasticity, report of pain (usually backache), or progression of deformities. In adults, an antecedent event such as trauma to the back or buttocks often initiates symptoms. Prominent changes for adults are diffuse leg pain with referral to the anorectal area, and changes in bladder or bowel habits, often difficult to detect given reconstructive surgeries; progressive deformity usually is not noted, as is reported in children (131). Studies report that tethering, cord thinning, lipomas, cavities within the cord, and diastematomyelia are common in this popu­lation, with or without symptoms, so identification on scan may not be definitive (132). Treatment consists of conservative management of symptoms with mon­itoring or neurosurgical intervention. Neurosurgical intervention is usually associated with improvement in pain, urinary symptoms, and weakness, and poorer outcomes are associated with repeat procedures (133); however, not all outcomes are good.

Epilepsy may remain an active problem in adult­hood for those with SB. Seizures are associated with shunts. Most series identify program cohorts with of recurrent or chronic pressure sores, and may ultimately require amputation for manage­ment (118).

Gastrointestinal conditions can be seen in adults with childhood-onset SCD. Usually, they are chronic rather than new or late-onset problems, unless related to progressive neurologic conditions. Adults with SB also report problems with fecal incontinence in about 50% of reported cohorts (92,137). Constipation and diarrhea may continue through adulthood; megaco­lon can develop if management is inadequate. It has been noted that assistance is commonly required for bowel management in adulthood (96,118,138). Bowel continence is often difficult to achieve, and lack of continence can influence ability to participate in com­munity activities. Of concern is assuring appropri­ate evaluation and management of acute abdominal symptoms; a case series of children and young adults notes etiologies included underlying neurogenic blad­der or bowel, shunt, and complications from previous surgeries and a substantial mortality rate (139).

Latex sensitization/allergy is an important issue for adults with SB, and the rate may be higher for adults than children (140). The risk of sensitization increases with more surgical procedures being performed (141); the percentage of patients sensitized to latex ranges from 2.97% to 64.5%. Radioallergosorbent testing has been found to be more sensitive with a higher negative predictive value and more accurate than skin prick testing. The prevalence of latex allergy in the SB popu­lation is almost 19%, while the prevalence of latex sen­sitization is 32.4% (141); therefore, every effort should be made to limit exposure to latex.

Lymphedema is not reported in any large cohorts; however, it is clinically present and often associated with pressure ulcers. Simple over-the-counter com­pression garments are not useful, and most adults with SB are unable to apply daily Ace wraps. The edema is often responsive to lymphedema wrapping followed by tailored compression garments. There are two reports of severe and unresponsive lymphedema in adult women with SB—one responsive to suction- assisted lipectomy (142), and the other progressed to a diagnosis of lipedema, which has no successful treat­ment regimen (143).

Sexual Functioning

The number of adults with SB and childhood-onset SCI are increasing; therefore, the health care community can no longer ignore dealing with the medical and social issues of sexuality (144). A recent report noted that sex­ual education was received at school, and far less at home or by health professionals (145). Urinary incon­tinence may limit sexual participation (145), although this is not a consistent report (146). Higher neurologic level and presence of hydrocephalus was associated with less participation for both genders, but more problems with sexual functioning for men (137,145). There is no published data regarding contraception, but for women, contraception or suppression can be offered considering risks (eg, thrombotic risk, lack of sensation for intrauter­ine devices [IUDs]), side effects, and need for follow-up (147). Sexual education should be offered, with consider­ation for cognitive impairments when appropriate.

Many men with SB are able to achieve erections, but only about 53% are able to ejaculate (144). As antic­ipated, a lower defect gives men a greater chance of being able to sustain an erection, and there are normal testosterone levels. Erectile dysfunction is treatable with medications, although men with SB in a study did have some adverse effects after taking sildenafil, including dyspepsia, nausea, headache, flushing and nasal congestion, hematologic changes, and UTI. The dyspepsia was treated with antacids, and the UTI was treated with antibiotics. The remainder of the adverse events did not require treatment (148).

Women with SB had fewer problems with sexual functioning and were able to maintain pregnancies. Arata reported that there was no increase in back pain, no changes in neurologic or motor function, and no changes in bowel or bladder function during or fol­lowing pregnancy (149). There were two commonly seen secondary conditions during pregnancy: UTI— but only in women who did not have normal voiding patterns—and pressure ulcers sometimes requiring hospitalization. Women with SB also had more emer­gent and elective C-sections than in the normal popu­lation. Women with SB were also found to have more antenatal admissions than women without SB, and it was noted that women with SB using wheelchairs exclusively had an average of 2.8 admissions antena- tally per pregnancy, with an average stay of 25.8 days, while women with SB who walked had an average of 1.9 admissions antenatally per pregnancy, with an average stay of 17.3 days. More women with SB are admitted with preeclampsia than in the normal popu­lation, but given the incidence of renal dysfunction in this population, the prevalence is not overly high (149). Further study is needed to fully address the possible complications of pregnancy and childbirth in patients with SB. Pregnant women with SB may be evaluated through a high-risk pregnancy service.

There is no information specifically regarding typ­ical gynecologic screening and prevention practices for women with childhood-onset SCD; however, national data regarding women with mobility impairments, especially those requiring use of a wheelchair, clearly demonstrate minimal participation, likely due to envi­ronmental and attitudinal barriers. Pregnant women with childhood-onset SCD should be at least evaluated through a high-risk pregnancy service.