Primary Care

Finding a primary care provider that is knowledgable and interested in taking care of adults with special needs is a challenge. Collaboration has been made between the AAP, American Academy of Family Physicians, American College of Physicians, and the American Society of Internal Medicine in the “Consensus Statement on Health Care Transitions for Young Adult with Special Health Care Needs.”

Young adults have a higher prevalence of being classified as overweight or obese. Adults with SB, as with able-bodied adults, require regular primary care visits with an adult-oriented physician for annual physical evaluations, routine preventive cancer screening examinations (Pap smears, breast examinations, testicular examinations), and monitoring for metabolic syndrome. Individuals with disabilities have been noted to have worse outcomes with cancers because of late detection and treatment.

Neurosurgical Care

Neurosurgeons are some of the first physicians an infant with SB and family will meet after delivery/birth. In addition to the neural tube defect, the infant may have hydrocephalus or a Chiari malformation. Hydrocephalus in infancy is significantly different from hydrocephalus, which begins in adulthood. In addition to the adult causes of hydrocephalus (tumor, meningitis, hemorrhage), infants can develop hydrocephalus from abnormal brain development, which obstructs the flow of cerebrospinal fluid (CSF), and there may be multiple points of potential obstruction of the CSF. Shunt failure can happen at any time, including adulthood. Up to 25% of patients with infantile hydrocephalus can have shunt failure in adulthood with nonresponding ventricles (ie, no change in the size of the patient’s ventricles, but the patient has markedly increased intracranial pressure). Patients with SB and hydrocephalus have increased mortality as adults, mostly due to shunt failure. As patients and families transitioned, often they were most concerned about shunt malfunction.

In addition to shunt malfunctions and Chiari complications, tethered cords and syringomyelia are other potential medical complications of adolescents and young adults with SB. Tethered cord can be a delayed complication of those with SB, usually occurring during late childhood or adolescence. However, the need for untethering in adults has been documented in the literature.

When a poll was taken at the 2008 meeting of the American Society of Pediatric Neurosurgeons, 52 practitioners (approximately half of the membership) reported working at a facility in which they were unable to care for patients beyond a certain age. Many of them worried about the effect the transition would have on their patients, and 36% of the pediatric neurosurgeons did not have an identified general adult neurosurgeon to whom to transfer their patients. During the transition to adult care, some patients may not have an established relationship with an adult provider in neurosurgery. Therefore, physiatrists may play a pivotal role in the referral process and in providing key information to a neurosurgeon about changes in function. This coordination can assist the surgeon in deciding if or when to proceed with surgical intervention in a given patient, as shunt or tethered cord symptoms may present with less obvious findings.

Urologic Care

Urologic care is focused on the preservation of renal function and promoting urinary continence (social continence.) Neurogenic bladder complications that can occur with patients with SB include elevated detrusor leak point pressure, vesicoureteral reflux, and detrusor-external sphincter dyssynergia. Current bladder management for children with neurogenic bladder in SB emphasizes lowering the urinary storage pressure with anticholinergic medications and using clean intermittent catheterization to avoid elevated voiding pressures. With compliance in taking anticholinergic medications and performing clean intermittent catheterization, up to 92% of children demonstrated normal renal function. Botulinum toxin injections have also been used on the bladder to increase capacity.

As the patient transitions to adolescence, a small study found that puberty was associated with an increase in maximum cystometric capacity, detrusor pressure, and detrusor leak point pressure, owing to prostatic growth in males or estrogenization of female urethras.

Sexual counseling should be included in the adolescent/young adult clinic visit. In a survey of adolescent/young adult patients with SB, only 52% were satisfied with their sexual lives. Women with SB were 2.3 times more likely to be sexually active than men. There is a high prevalence of erectile dysfunction in men with SB. When discussing sexuality with the patient, bladder and bowel concerns should be addressed, such as bladder leakage or bowel accidents during intimacy. Discussion should also include the issue of latex allergy and (latex-free) condom use.

In one study, up to two-thirds of adults with SB did not have regular urologic follow-up.

In adults with neurogenic bladder in SB, there are no established guidelines for urologic surveillance. However, in the absence of urologic disorder, a baseline video urodynamics study and repeat every 2 to 3 years, annual renal ultrasonography, and annual serum creatinine level is recommended. Any change in urologic care and/or function warrants a repeat urodynamic study; consider tethered cord in the differential as well, if there is a change in bladder care/function. If there are complications, such as recurrent urinary tract infections (UTIs), pyelonephritis, stones, hematuria, abnormality on ultrasonography, unresolved vesicoureteral reflex, or progressive renal compromise, consider further evaluation with voiding cystourethrography and nuclear medicine renal function scans.

In a case series, 8 patients with SB, neurogenic bladders, and chronic UTIs developed bladder malignancies. There may also be an increased cancer risk with augmentation cystoplasty, with a 1.2% incidence of bladder cancer in augmented bladders in children. For these patients, an annual cystoscopy and cytologic examination of urine is recommended.

In those with chronic UTIs, most interdisciplinary clinics treat with antibiotics when there are greater than 10,000 CFU/mL in association with:

• 1.
  

  Urine white blood cell count greater than 50 WBC/microliter of urine

  
  
• 2.
  

  Fever

  
  
• 3.
  

  Flank pain

  
  
• 4.
  

  Dysuria, change in urinary pattern

Those who undergo bladder reconstructive surgery as children continue to have complication risks into adulthood. Risks may include stomal complications, stones, ureteric stenosis, or bladder rupture.

Orthopedic Care

Many children with SB have orthopedic complications, including club feet, dislocated hips, scoliosis, and contractures. Some of these orthopedic conditions may progress over time. Foot deformities are the most common orthopedic abnormality in children with SB. As the patient ages, calcaneovalgus deformity is commonly seen. If there is a change in the foot position and neurologic status, consider tethered cord or syringomyelia. Individuals with SB are at increased risk for low bone mineral density, hence increasing their risk for fractures. Overuse injuries of the shoulder were found to be more prevalent in those propelling wheelchairs than in those using crutches. Medial knee pain from valgus stress resulting from long-term abnormalities in gait may be ameliorated with forearm crutch use (First World Congress on Spina Bifida Research and Care).

Physical Medicine and Rehabilitation: Physiatry Care

Physiatrists are uniquely trained in taking care of individuals with complex, physically impairing conditions. A person’s functionality is greatly affected by the level of involvement of their SB. Motor level and a history of hydrocephalus significantly affect a patient’s mobility. Young adult-onset shunt failure, tethered cord, syringomyelia, neuro-orthopedic problems, obesity, and premature skeletal aging can all contribute to functional declines and loss of ambulation in this population. Despite having high-quality assistive devices, adults with SB who use wheelchairs had a lower activity level, both in the home and outside the home, in comparison with those who ambulate.

Physiatrists can assist in the transition process by promoting and maximizing the young adult’s ability to self-care, assisting with integration to school and work, and supporting activities of interest. Responsibilities for self-care may include management of bladder and bowel programs, ordering supplies, making medical appointments, arranging transportation, and participating in the meetings for one’s individualized education plan. Aside from actively encouraging self-management, the physiatrist can also assist the patient in promoting self-advocacy.

Gastrointestinal Care

In individuals having neurogenic bowels, the areas mostly affected in children with SB are the large intestine, rectum, and internal and external sphincters. Encouraging social continence with a bowel program is recommended. Eighty percent of those with SB need to be utilizing some form of bowel program. Implementing routine/regular schedule, increasing liquid intake, timed bowels, disimpaction, digital stimulation, the gastrocolic reflex (it is unknown if this reflex is intact in those with SB), retrograde enemas, and taking stool softeners or bulking agents may help. Surgical anterograde continence enema may be an option for those with intractable incontinence.

Cognitive and Psychological Care

Children with SB have good verbal skills, but may have learning disabilities and difficulties with problem-solving tasks, such as decision making about treatment plans, which can affect self-management of care. A retrospective chart review documented that there was a delay of 2 to 5 years in self-care or autonomy of adolescents with SB. One study recommended neuropsychological evaluations during key developmental transitions (during early childhood, early adolescence, and adolescence/young adulthood) ; however, obtaining authorizations for these evaluations may prove difficult.

As children with SB become older, self-awareness occurs. Children may become more concerned with body image. It has been found that adolescents with SB who have low body image had a propensity for depression. Those who were not socially continent had lower self-esteem.

Gender and disability may place women with disabilities at greater risk for psychosocial problems, such as depression. These women are also vulnerable to physical and psychological abuse, in addition to sexual exploitation.

Full-time wheelchair users had lower scores on their quality-of-life survey, yet psychological distress symptoms did not vary in comparison with other groups.

For many parents with special needs children, caring for their child has been a full-time job. Some parents may feel uneasy about “letting go” as their child transitions from the pediatric health care clinic to the adult health care system. Resources for psychological support for both patient and parents should be provided.

Women’s Health

As with the general transition of care from adolescents/young adult to adult-centered care, it is a challenge to transition a young woman’s health care to adult providers who are knowledgable and interested in seeing a woman with special needs. Access to Pap smears and mammograms is difficult. The importance of folic acid supplementation should be emphasized with all women of child-bearing age and their first-degree relatives (parent and siblings), and female partners of men with SB. All women of child-bearing age should take supplements of folic acid of 0.4 mg/d. Those with previous pregnancies resulting in neural tube defects should take 4 mg/d.

Young women with SB who are pregnant should be followed by a high-risk obstetrician. Pregnancy may affect bowel and bladder care as the gravid uterus progresses. Depending on the level of involvement, it is possible that the patient may not be able to feel contractions; therefore, education on other signs of labor should be discussed (eg, rupture of membranes may cause leakage).

Social, Living, and Vocational Concerns

As patients with SB become adults, the need arises for independence in life skills, self-management, housing, and employment opportunities. Executive function issues can interfere with initiation and problem solving. The Department of Vocational Rehabilitation is available at the county or state level. Individuals can be referred to local regional centers, which may have social workers or resources available for those with disabilities. The local chapter of the Spina Bifida Association is also an asset. Local support groups or sports-related organizations for challenged athletes can help with social transition.