Rehabilitation and medical management of the adult with spina bifida.

Abstract

.As the life expectancy of individuals with spina bifida increases, a lifelong need for management of many health issues in a rehabilitation setting has emerged in recent years. Physiatrists, in consultation with a variety of adult specialists, are particularly well suited to manage the common musculoskeletal, skin, bowel, bladder, renal, neurological, and other issues that arise in the adult population. This article reviews the last 20 yrs of literature pertinent to the rehabilitative care of this population, summarizes current evidence-based practice, and identifies key areas in which scientific evidence is lacking and future research is needed.

Full text

Page 1

Authors:
Brad E. Dicianno, MD
Brad G. Kurowski, MD
Jennifer Marie J. Yang, MD
Michael B. Chancellor, MD
Ghassan K. Bejjani, MD
Andrea D. Fairman, MOT, OTR/L
Nancy Lewis, RN
Jennifer Sotirake, RD, LDN
Affiliations:
From the Adult Outpatient Spina
Bifida Clinic (BED, NL, JS),
Department of Physical Medicine and
Rehabilitation (BED, BGK, JMJY, NL),
University of Pittsburgh Medical
Center (UPMC), Pittsburgh,
Pennsylvania; Human Engineering
Research Laboratories, VA Pittsburgh
Healthcare System, Pittsburgh,
Pennsylvania (BED, JMJY);
Department of Urology, William
Beaumont Hospital, Royal Oak,
Michigan (MBC); Department of
Neurosurgery, UPMC Presybterian
Shadyside, Shadyside Campus,
Pittsburgh, Pennsylvania (GKB);
Spina Bifida Association of Western
PA, Pittsburgh, Pennsylvania (ADF);
Department of Rehabilitation Science
and Technology, University of
Pittsburgh, Pittsburgh, Pennsylvania
(BED, ADF); and Department of
Nutrition, UPMC, Pittsburgh,
Pennsylvania (JS).
Correspondence:
All correspondence and requests for
reprints should be addressed to Brad
E. Dicianno, MD, Human
Engineering Research Laboratories,
VA Pittsburgh Healthcare System,
7180 Highland Drive, Building 4, 2nd
Floor East, 151R1-H, Pittsburgh, PA
15206.
Disclosures:
There was no outside funding for this
manuscript.
0894-9115/08/8712-01026/0
American Journal of Physical
Medicine & Rehabilitation
Copyright © 2008 by Lippincott
Williams & Wilkins
DOI: 10.1097/PHM.0b013e31818de070
Rehabilitation and Medical
Management of the Adult
with Spina Bifida
ABSTRACT
Dicianno BE, Kurowski BG, Yang JMJ, Chancellor MB, Bejjani GK, Fairman AD,
Lewis N, Sotirake J: Rehabilitation and medical management of the adult with
spina bifida. Am J Phys Med Rehabil 2008;87:1026–1050.
As the life expectancy of individuals with spina bifida increases, a lifelong need for
management of many health issues in a rehabilitation setting has emerged in
recent years. Physiatrists, in consultation with a variety of adult specialists, are
particularly well suited to manage the common musculoskeletal, skin, bowel,
bladder, renal, neurological, and other issues that arise in the adult population.
This article reviews the last 20 yrs of literature pertinent to the rehabilitative care
of this population, summarizes current evidence-based practice, and identifies key
areas in which scientific evidence is lacking and future research is needed.
Key Words:
Cord Syndrome, Transitional Care
Adult, Myelomeningocele, Hydrocephalus, Rehabilitation, Review, Tethered
Advancements in medical science have enabled individuals with spina bifida
(SB) to live longer now than ever before.1–5This increase in life expectancy
necessitates health care extending into adulthood. Before 1975, death of infants
with myelomeningocele significantly impacted survival rates.6,7Today, at least
75–85% of children born with SB are expected to reach their early adult
years.3,7However, the life expectancy of those with SB cannot be accurately
determined from the current data available.8,9
The growing adult SB population has prompted various studies that elucidate
medical and rehabilitative issues pertinent to this population.2–4,10–24They span a
wide range of domains, including neurological, neurosurgical, cognitive, psy-
chosocial, renal/urological, bowel management, mobility, musculoskeletal/or-
thopedic, sexual function, skin, and others.2–4,10–24Renal, cardiac, and respi-
ratory complications have been identified as frequent causes of death.9
Optimization of the medical and rehabilitation management of these secondary
health conditions is integral to reducing mortality, morbidity, and impairment
to improve quality of life in the adult with SB.2,12,14
Secondary complications associated with SB first occur in childhood, and
excellent initial management of these issues is essential for the transition into
adulthood.25–27A coordinated interdisciplinary team approach to management
has been shown to be effective in the care of children with SB; however, this type
1026
Am. J. Phys. Med. Rehabil. ● Vol. 87, No. 12
LITERATURE REVIEW
Spina Bifida

Page 2

of approach does not always extend into adult
care.28–31In general, there is a lack of comprehen-
sive and lifelong care available to the adult with
SB.32Multidisciplinary clinics may not survive be-
cause they typically face many challenges, includ-
ing program structure, personnel, and financial
support issues.33In fact, at the time of this publi-
cation, there are currently only five clinics in the
United States devoted solely to the care of the adult
with SB.34As those with SB age, they encounter a
variety of medical, cognitive, and psychosocial issues
that physiatrists are particularly well suited to man-
age. Regardless of whether a comprehensive clinic
exists, the physiatrist may be able to coordinate a
team of specialists needed in the care of the adult
with SB.
In this article, we will discuss the current state
of the literature on the rehabilitation and medical
management of the adult with SB and ways that
physiatrists can reduce morbidity and maximize
function for these individuals. Additionally, we
highlight where there are gaps in treatment and
management protocols so areas of future research
can be identified.
METHODS
We performed a literature search of all publi-
cations dated January 1, 1988, to May 31, 2008,
using the search terms of “spina bifida or myelo-
meningocele” in PubMed. We set the following
limits: publication date from 1988 to May 31, 2008,
English, and all adult (19? yrs). This initial search
yielded 1425 results. These were then reviewed,
and manuscripts that primarily focused on the
rehabilitation, medical management, and out-
comes related to adults with SB or myelomeningo-
cele were included, whereas articles that focused
primarily on children, focused primarily on spina
bifida occulta, were case studies or small case re-
ports, or focused primarily on surgical techniques
were excluded. The search yielded 267 articles that
were included. These were then reviewed, and 85
additional citations were added based on searching
through pertinent reference lists of the included
manuscripts and by reviewing other relevant liter-
ature when there were gaps of information noted.
The total number of references included was 352.
For the purposes of this article, we use “spina
bifida” to refer primarily to “myelomeningocele”
rather than meningocele or spina bifida occulta;
however, in some cited references, it is unclear
whether the use of spina bifida was inclusive of
other forms of open or occult dysraphism. We use
“adult” to refer primarily to individuals aged 19 yrs
and older and “young adult” to refer to those
aged 19–21 yrs. However, to include all impor-
tant studies on adults, we did not exclude studies
if their subject population included both adult
and younger age groups.
RESULTS
Transition to Adult Care
Binks et al.28identified five key elements nec-
essary for the successful transition of care for those
with cerebral palsy and SB. These included early
preparation/education of the individual and family,
flexible timing of the transition, introduction to the
transition clinic, interested adult-center providers,
and a coordinated transfer of care approach between
the individual, family, pediatric primary care physi-
cians, and adult specialist.28They also identified five
barriers, including child healthcare providers refus-
ing to “let go,” parents refusing to “let go,” reluctance
to leave a family-centered care paradigm, and adult
center care providers having limited knowledge or
limited interest in caring for these individuals.28
Young adults with SB often have unmet health
needs.35Young et al.29evaluated the transition of
children with cerebral palsy, SB, and acquired
brain injury to adult-centered care and found that
adults with SB reported the lowest health scores of
the three groups. In the absence of coordinated
care, young adults with physical disabilities and,
specifically, individuals with SB often fail to receive
regular hospital care and their original diagnoses
and prescriptions are not regularly reviewed.36,37
Adult-centered hospitals are the primary facilities
in the United States where those with a history of
congenital disabilities are hospitalized when they
becomeill.38Admissionratesareninetimeshigherthan
thatofthegeneralpopulation,and76%donothaveor
cannot identify a primary care provider.39This is
alarming especially since Kinsman and Doehring40
demonstrated that 47% of the admissions, older
than 11 yrs, to one acute care hospital involving
adults with SB were secondary to preventable con-
ditions. Furthermore, adults with SB have medical
expenditures 3–6 times greater than adults with-
out SB.41Lifelong integrated care for individuals
with SB by a medical team is, therefore, highly
recommended.42The nurse coordinator’s role is
critical to coordinating transitional and long-term
care.43
It is crucial to involve families in the transition
process.44–47The transition to autonomy in health
care should begin as early as possible.48Significant
difficulties arise for the aging parents who are
providing continued care,49especially since auton-
omy in activities of daily living, self-care, and mo-
bility tend to worsen over time.50–52Parents feel
their child’s needs for transportation increase with
age.53Many adults with SB remain dependent on
their parents for management of incontinence and
skin care.54Discussions about continued care after
December 2008Rehabilitation and Management of Spina Bifida
1027

Page 3

the aged parent is no longer able to be a caregiver
are important.
Psychosocial and Quality of Life
The family and social environments play an
integral role in the future psychosocial develop-
ment and quality of life of young adults with SB.
Sawin et al.55demonstrated that adolescent stress,
mother’s education, parent-family satisfaction, and
adolescent hope are key factors for quality of life in
adolescents with SB. The future expectations of
adolescents and parents frequently differ with re-
spect to school, job, athletics, behavior, attractive-
ness, and romantic appeal.46Social support and
parental hope are more strongly associated with
self-worth and health-related quality of life than gen-
der, age, diagnosis, or physical impairments.56,57Per-
ceived health-related quality of life of young adults
with SB is lower, especially within the physical func-
tioning domain, compared with a population without
a disability, as measured using the Short-form Health
Survey.58
When compared with age-matched able-bodied
comparisonsubjects,adolescentsandyoungadultswith
SB were at greater risk of depressed mood, low self-
worth, and suicidal ideation.59Social and peer re-
lationships and social “norms” play a significant role
in the development of positive or negative disability
identity.60,61The highest proportion of life dissatis-
faction was found for financial situation, partner-
ship relations, and sex life.62Involvement in leisure
activities has a positive effect on mental and phys-
ical health, enjoyment, opportunities to develop in-
creased self-esteem, and opportunities to build positive
social relationships.63Self-concept, which is lower in
adolescents with SB compared with those without dis-
abilities, and self-efficacy, the belief in one’s ability to
perform a specific task, are predictors of indepen-
dence.64Those succeeding at college and participat-
ing in recreation, sport activities, and other aspects of
young adult living report a good health-related qual-
ity of life, but they report concerns about the number
of secondary health conditions they are experienc-
ing.65Because people with motor disabilities are
known to have fewer opportunities to participate in
social life and have limited opportunities to benefit
from those interactions,66there needs to be a com-
bined effort by healthcare professionals, the individ-
ual, and parents and parent groups to reduce social
isolation.67Perceived family encouragement of inde-
pendence is positively associated with achievement as
a young adult.68
The physiatrist can play a key role in encour-
aging individuals to participate in community ac-
tivities that will enhance function and improve
their quality of life. Clinical screening for depres-
sion should be done on a regular basis in the adult
with SB. About 8% of women with SB meet criteria
for eating disorders,69and if diagnosed properly,
these disorders respond well to multidisciplinary
intervention.70Future research should focus on
the prevalence and outcomes regarding manage-
ment strategies of depression, anxiety, and other
mental disorders in the adult SB population.
Education and Employment
Educational achievement is decreased in ado-
lescents and adults with childhood disabilities.71
There are limited data on educational outcomes in
SB. About 85% successfully graduate high school,3
whereas successful college attendance is only
14.6%.72Lower intelligence was the main predic-
tor of the need for special secondary education, but
hydrocephalus and wheelchair dependence were
also significant variables.73Performance on intel-
ligence quotient (IQ) testing has been correlated
with ventricle size and the level of lesion or highest
open vertebral arch at birth.74–76In the absence of
hydrocephalus, young adults with SB had similar
outcomes compared with the general population in
their attendance of regular vs. special secondary
education,73and cognitive functioning measured
with neuropsychological testing was relatively un-
impaired.77,78Other impairments that affect edu-
cation include decreased fine motor coordination;
motor timing impairments; decreased speed of in-
formation processing; impaired executive function;
decreased prospective/working memory; poor com-
putation speed and accuracy; decreased problem
solving; and a slow learning curve.73,79–88Motor
skill deficits could be improved with practice, especially
speed and accuracy.89Additionally, Huber-Okrainec
et al.90demonstrated that individuals with SB and
hydrocephalus compared with controls had an in-
creased number of motor speech deficits, including
dysarthria, impaired fluency, and impaired rate of
speech.
Individuals with childhood disabilities and those
specifically with SB are underemployed and not consis-
tently living independently as adults.71,91Studies have
shown that 29–33% of adults with SB were in compet-
itive employment, 19–29% were in sheltered/supported
employment, and 25–32% were unemployed or never
employed.72,92Highercognitivestatus,specificallyexec-
utive functioning and memory, have been positively
correlatedwitheverydayphysicalactivityandfunctional
independence in adolescents and young adults with
SB.79,93Thus, more functional ambulatory status, in-
creased independence in daily activities, higher educa-
tional level, and higher intelligence level increase the
probability of work participation.72,94,95Specifically,
Loomisetal.95demonstratedthatpaidemploymentwas
related to various basic skills, including academics, ver-
bal memory, attention/concentration, and adaptive be-
havior, whereas the skill level of employment was
1028
Dicianno et al.
Am. J. Phys. Med. Rehabil. ● Vol. 87, No. 12

Page 4

associatedwithintelligence.Neuropsychologicalimpair-
ments, particularly in those with concomitant hydro-
cephalus, may result in difficulty with jobs or tasks that
require multitasking.96Hetherington et al.97demon-
strated a negative association between the number of
shunt revisions and occupational status.97Those with
revisions after the age of 2 yrs were more likely to have
lower overall achievement and more symptomatic epi-
sodes of raised intracranial pressure.98,99Interestingly,
one study did not find a relationship between cognitive
function and magnetic resonance imaging (MRI) anal-
ysis of ventricular dilation or parenchymal thickness in
young adults shunted for congenital hydrocephalus;
however, the total number of individuals in this study
was only ten.100
The ability to secure employment also depends
on the ability to obtain reliable transportation to
and from work. Higher order processing skills re-
lated to the frontal lobe functioning and visual
organization skills are important in achieving in-
dependence with driving.95The process of organiz-
ing visual data and making immediate judgments
has been shown to be more important to successful
driving than reaction time.95However, cognitive
testing alone could not discriminate between
young adults with SB who were drivers or nondriv-
ers.101The availability of adapted cars, good paren-
tal and community support, and good financial
support have been positively associated with driv-
ing success.102Compared with controls, patients
with SB drove less miles per week, had a higher
number of accidents, had greater difficulties with
route planning, and had greater difficulties access-
ing service stations.103Vocational rehabilitation
programs can be a source of funding to help with
car modifications. Physiatrists should identify
adaptive driving programs that can carefully assess
the needs of this population to enable them to be
successful.
There is very limited data available on the best
way to address underemployment. Certainly, voca-
tional rehabilitation programs and education and
career counselors are important sources of sup-
port.104Additional programs may be available
through the Department of Veterans Affairs for
children of Vietnam Veterans.105Neuropsycholog-
ical testing should be used to identify specific cog-
nitive impairments, so education strategies can be
used to target those areas. The use of assistive
technology has been suggested as a way to enhance
higher level cognitive functions, including mem-
ory and executive function.106Early assessment
and identification of alternative funding sources for
assistive technology equipment, particularly through
vocational rehabilitation agencies, are recommended.
More research is needed on how identifying and im-
proving transportation barriers, especially for those
using wheelchairs, can improve education and em-
ployment opportunities.
Ambulation and Mobility
Mobility is an important determinant of qual-
ity of life for those with SB.107It is integral to
independence, activities of daily living, employment,
community/leisure activities, and overall life satisfac-
tion.106Yet, adults with SB are hypoactive compared
with healthy matched control subjects.108The ambula-
tion ability of those with SB deteriorates over time
and is negatively correlated with higher neurolog-
ical lesion level. A comparison of the different sys-
tems used to classify the neurological level in in-
dividuals with SB is well outlined by Bartonek et
al.109About 92% of individuals with lower level
lesions (S1 and below) ambulate, whereas only
38% of individuals with middle level lesions (L3–
L5) and 4% of those with higher level lesions (L2 and
above)ambulate.12,110WhenMRIisusedtodefinethe
lesion level, similar findings are noted.111Iliopsas
strength grade 0–3 was associated with partial or
complete use of a wheelchair, and deterioration in
mobility was associated with strong iliopsoas/quadri-
ceps and weak (grade 0–3) gluteus medius.112Addi-
tionally, functional independence has been correlated
with hydrocephalus and the level of lesion; those
without hydrocephalus or those with hydrocepha-
lus and a lesion below L2 were independent for all
functional independence measure domains except
sphincter control.113Alternatively, those with hy-
drocephalus and a lesion above L2 showed in-
creased dependence with sphincter control (98%),
locomotion (79%), self-care (54%), support in transfers
(38%), social cognition (29%), and communication
(15%).113Other factors that negatively correlate with
ambulation/mobility include spasticity associated
with tethered cord syndrome (TCS), contractures,
decreased motivation, low-back pain, and major med-
ical events.12,20,113–116
Preservation of mobility through rehabilitative
measures improves physical function and func-
tional independence and, in turn, health-related
quality of life.58,117Assistive technology and gait
aide use for mobility are common in adolescents
and young adults with SB.3,12,14,106Between 36%
and 57%3,12,14,106use wheelchairs, and increased
wheelchair dependence correlates with higher level
lesions and hydrocephalus.12,14,113Johnson et al.106re-
ported that 35% of the adolescents and young adults in
their study used braces, and 23% used walking aides.
Functional walking can be achieved or maintained into
adulthood for subjects with nonfunctional hip flexors
using a reciprocating gait orthosis.118–120
Gait analysis of those with high-sacral level SB
showed that through the use of forearm crutches,
functional ambulation with a gait pattern similar to
December 2008Rehabilitation and Management of Spina Bifida
1029

Page 5

that of unimpaired individuals can be achieved.121
Yet, even with the use of gait aides, the physical
demands of ambulation can be high and may not be
adequate to complete the activities of daily living.
Physical strain in ambulatory adults with SB was
shown to be 1.4–2 times higher compared with peers
without disabilities. However, adults with SB using
wheelchairs had a lower energy cost for mobility
compared with controls. This suggests that wheel-
chairs, if customized appropriately, may make mobil-
ity more efficient.122There are scant data on the
metabolic consequences of transitioning from being
ambulatory with SB to a wheelchair user. Although it
is possible that wheelchair use may result in more
sedentary behavior, it is also possible that individuals
may become more active when using a wheelchair if
energy costs of ambulation are high. More research is
needed in this area and on how improving design of
wheelchairs, assistive devices, or orthoses can im-
prove overall mobility, activity, and participation. It is
also unclear how barriers in access to adequate and
appropriate technology may influence these out-
comes. Thorough evaluations by multidisciplinary
teams experienced in assistive technology prescrip-
tion are recommended because seating needs for
those with SB are complex and must account for
scoliosis, short limb length, and sensitive areas over
the primary closure sites. Power features such as tilt,
recline, and elevating leg rests should be considered
because of the many medical conditions for which
these features are prescribed.123
Physiatrists should aim to preserve physical
function of both ambulators and wheelchair users.
It has been shown that those who participate in a
walking program early in life are overall more
independent, are better able to perform transfers,
and develop fewer fractures and pressure ulcers
later in life than age-matched controls.124The
health of wheelchair users can also be preserved
with specific rehabilitation programs, including
stretching, resistance training, and aerobic exer-
cise, that increase biomechanical economy of
wheelchair propulsion without increasing shoulder
or elbow joint stresses.125Because the kinematics
of manual wheelchair propulsion have been shown
to be similar in adults and children,126comparable
training programs can be used in each group. It is
particularly important to maximize efficiency of
manual wheelchair propulsion because 50% of
forces exerted at the pushrim are not directed
toward forward motion and may result in repetitive
strain injuries.127The physiatrist should advocate
and encourage daily adaptive exercise in those with
SB, especially those who use wheelchairs. More
research is needed to elucidate optimal exercise
programs for adults with SB.
Musculoskeletal System
Although there are few reports in the medical
literature on musculoskeletal disorders specific to
adults with SB, pertinent information can be ob-
tained from the spinal cord injury literature that
does include a small number of individuals with SB
in its findings. Shoulder pain in individuals with
paraplegia has been reported to have a prevalence
of 31–73%,128–131whereas wrist pain has been
found in 49–73% of wheelchair users.131–134Stud-
ies have also shown that the prevalence of upper
limb pain increases with the duration of spinal cord
injury and consequent wheelchair use.131–134Be-
cause wheelchair users rely on their arms for mo-
bility, transfers, and most activities of daily living,
injury to the upper limbs can have significant con-
sequences. Upper limb pain has been linked to a
lower quality of life and increased dependence on
assistants.135,136
Interestingly, the prevalence of shoulder pain
in individuals who have used wheelchairs since
childhood has been found to be significantly less
thanthatofindividualswithadult-onsetwheelchairuse.
Sawatzky et al.137propose that the immature skele-
ton of persons with SB possibly responds better to
the repetitive forces of propulsion than those skel-
etons of individuals who begin using a wheelchair
once their skeletal structure is completely devel-
oped. Much of the shoulder pain in wheelchair
users has been attributed to injury of soft tissue
structures. Rotator cuff disorders are most common,
as seen in several arthrographic and MRI surveys of
wheelchair users with shoulder pain.133,138,139Aside
from the ergonomics of wheelchair propulsion,
frequent overhead reaching by wheelchair users
can contribute to this overuse injury. Imbalance
among the muscles acting on the shoulder joint is
a typical cause of rotator cuff disorders, leading to
unnecessary strain, susceptibility to injury, and
inefficient energy use.140,141
Preventative measures include joint protection
programs, appropriate wheelchair configuration,
and teaching of proper wheelchair propulsion pat-
terns and transfer techniques. Physiatrists may
want to consider prescribing pushrim-activated
power assist wheels for manual wheelchairs to re-
duce the load of propulsion or seat elevators for
power wheelchairs to reduce overhead strain while
reaching and to enable users to transfer to surfaces
of varying heights with healthy transfer tech-
niques.142
Conservative treatment is the first line of man-
agement, as with individuals without SB; this in-
cludes relative rest, nonsteroidal antiinflammatory
drugs, corticosteroid injections, therapeutic mo-
dalities, and exercises performed in physical and
occupational therapy.143Specifically, an 8-wk scap-
1030
Dicianno et al.
Am. J. Phys. Med. Rehabil. ● Vol. 87, No. 12

Page 6

ula-focused home exercise program was shown to
be effective in reducing shoulder pain and improv-
ing function and satisfaction in manual wheelchair
users with spinal cord injury and SB.144Favorable
results have also been reported with surgical rota-
tor cuff repair.145,146
Biceps tendinopathy and tendon tears are an-
other source of shoulder pain. They are often as-
sociated with supraspinatus tears.147Edema and
change in tendon width, seen on ultrasound are
often the first signs of overuse injury.148As with
rotator cuff disease, conservative treatment is in-
dicated. Surgical options are generally indicated if
symptoms continue after 3 mos of conservative
management or if there is biceps instability. These
include tendon debridement, release of constricted
synovial sheath, tenodesis, and tenotomy.149
Nerve entrapments are a common cause of
pain and functional impairment in wheelchair us-
ers. Although there are no published reports on
carpal tunnel syndrome (CTS) specific to individ-
uals with SB, it can be surmised that they are
similarly affected. Common symptoms include
hand numbness and paresthesias restricted to the
median nerve distribution, wrist pain worse at
night, and hand weakness or clumsiness.150Clini-
cal diagnosis of CTS is supplemented by nerve
conduction studies and electromyography. These
electrophysiologic abnormalities may precede clin-
ical manifestations, as seen in studies of individuals
with unilateral symptoms, but are found to have
bilateral CTS when electrodiagnostic studies are
performed.151,152Initial treatment for CTS includes
rest, activity modification, wrist splinting, corticoste-
roids via oral route, or intracarpal injection; in more
severe cases, endoscopic or open surgical decom-
pression is indicated.150,153–155Weight control may
also be important in prevention of CTS because
increased body weight correlates with worse me-
dian nerve function in wheelchair users.156There
is no published literature available on the preva-
lence of ulnar neuropathy in those with SB, al-
though the physiatrist should also consider this
diagnosis as part of a thorough evaluation.
Scoliosis of varying severity is present in
47.7% of persons seen at an adult SB clinic.14The
rates of spinal deformities in SB are related to the
clinical motor level or neurological classification,
ambulatory status, and last preserved laminar
arch.157–159Often, surgical correction is performed
during childhood and adolescence while musculo-
skeletal growth and development are still occur-
ring. New scoliotic curves tend to continue to de-
velop until the age of 15,158and adults with SB and
scoliosis usually have spinal curves that are already
static. Those with sacral level of function have a 5%
prevalence of spinal deformity with a steady in-
crease to 25% at L5, 60% at L4, 70% at L3, 80% at
L2, and more than 90% at L1 and cephalad.157
Nonoperative treatments using spinal orthoses, ex-
ercises, or manipulation may help to improve func-
tion, but they do not reliably influence the natural
history of the spinal deformity.157Indications for
surgical correction include a progressive defor-
mity, compromise of sitting or standing balance,
skin breakdown, facilitation with nursing care, car-
diac or pulmonary compromise, and pain unre-
sponsive to nonoperative interventions.157The
combined anterior-posterior approach has been
shown to be more efficacious in older adolescents
and adults when pelvic obliquities are present.157
Some research has shown no improvements in
quality-of-life measures after surgery in those with
SB, which is in contrast to those with other dis-
abilities.160
Charcot arthropathy can lead to significant pain
and functional decline in individuals with SB. The inci-
dence has been reported to be nearly 1 in 100 cases of
SB, with a mean age of diagnosis of 15 yrs and 7 mos;
however, this is likely an underestimation.161The most
common location for the development of arthropathy is
the foot and ankle, followed by the hip and knee.161
Maynard et al.162demonstrated that foot rigidity, non-
plantigradefootposition,andhistoryofarthrodesiswere
strongindicatorsoftheeventualdevelopmentofneuro-
pathic foot changes. Adequate management can usually
be achieved with the use of braces, including AFOs,
KAFOs, or HKAFOs161or patellar tendon-bearing AFOs
forthetreatmentofCharcotarthropathyofthefootand
ankle.163
The prevalence of orthopedic deformities and
development of joint contractures is common in
those with SB and can hinder continued mobility.
Those with thoracic level lesions often have equi-
nus foot (55%), those with mid-lumbar lesions
have club foot (87%), and those with sacral lesions
have a calcaneal foot (34%).110Knee flexion con-
tractures are seen at all levels; however, the ma-
jority occur in those with thoracolumbar le-
sions.164,165Positional deformation, spinal reflex
activity, fractures around the knee joint, and weak
quadriceps are the main factors associated with
flexion contractures at the knee.164Although sur-
gical correction of knee flexion contractures is usu-
ally performed in childhood, recurrence of contrac-
tures can occur years after surgery and are associated
with lack of ability to stand or walk and obesity.164
Abnormal knee biomechanics can lead to knee
symptoms in those with SB. Specifically, it has
been shown that abnormal stresses, secondary to
weak hip abductors and calf muscles, placed on the
knee in those with low-lumbar SB can lead to
medial and anteromedial knee rotary instability
and eventual degenerative changes.166Adults
with high-sacral SB with abnormal internal knee
varus moment and an increase in the knee ex-
December 2008 Rehabilitation and Management of Spina Bifida
1031

Page 7

tension in stance phase may have early onset of
degenerative changes if they have not undergone
tibial osteotomy.167
Hip flexion contractures and hip dislocation
have been problematic in those with SB. Hip flex-
ion contractures have been correlated with an in-
creasing lumbar hyperlordosis that is believed to be
a way of maintaining center of gravity.168In regard
to hip dislocation, functional level seems to be
more closely related to neurological level than the
presence of hip location or dislocation,169and treat-
ment of hip dislocations in ambulatory individuals
with SB offers little additional functional bene-
fit.170,171Alternatively, because unilateral hip in-
stability and scoliosis have been shown to be co-
morbid factors,172it is generally accepted clinical
practice to perform surgical reduction of unilateral
hip dislocation in the child or adolescent with SB
to delay or prevent progression of scoliosis or de-
velopment of wounds in those who use wheel-
chairs.173Posteriorlateral transfer of the illiop-
soas in those with L3 SB has been shown to have
value in obtaining hip stability and walking abil-
ity.174Long-term outcome data in large groups
of adults are not available.
Early-onset osteoporosis occurs in almost 50%
of adults with SB.175Relevant risk factors for os-
teoporosis in this population include female sex,
renal failure, prior ileal diversion surgery, reduced
physical activity, use of epilepsy medications or
oral corticosteroids, and family history of hip frac-
ture.175–178A study of 21 young adults with a mean
age of 30 showed that common sites are lumbar
spine, femoral neck, and femoral trochanter.175
Little has been published on the pathophysiology of
bone metabolism specifically in SB, but the pattern
of bone density loss in adults seems to follow the
patterns seen in acquired pediatric spinal cord in-
jury in which the hip is affected more than the
lumbar spine.175,179Regular screening of bone
mineral density is recommended, although a con-
sensus on minimum age has not been estab-
lished.175Additionally, poor readings may occur
due to obesity, the SB defect, heel deformities, or
spinal hardware,175so optimal screening location
may be dependent on the individual.
The annual incidence of fracture is 29/1000 in
adolescents and 18/1000 in adults with SB.180Most
fractures involve the femur and tibia. Although
research on children with SB shows that both
neurological level and actual weight-bearing status
affect bone density,181only older age and higher
level have been independently associated with in-
creased number of fractures in adults with SB.175
No data are currently available on the risk of patho-
logical fracture with resumption of weight-bearing
status after a period of being nonambulatory if a
patient wants to resume a therapeutic standing or
walking program.
We found no studies on therapeutic standing,
bisphosphonates, calcitonin, calcium, or vitamin D
for treatment or prevention in SB. Although it has
been suggested clinically to add calcium and vita-
min D,175these supplements may be problematic
in the setting of constipation or nephrholithiasis.
Additionally, the presence of gastroesophageal re-
flux may prevent bisphosphonate use in some individ-
uals. Oral hydrochlorothiazide is sometimes used to
mitigate effects of urinary calcium loss associated with
reducedambulationstatus175;however,itdoesnotseem
to affect bone density.182
Neurological and Neurosurgical Issues
Adults with SB can present with a variety of
neurological and neurosurgical issues. Hydro-
cephalus and TCS are the most common, but
others include symptoms from Chiari malforma-
tion, syringomyelia, seizures, and chronic head-
aches.3,10,12,14–16,20–22,183Vigilance in detecting
signs and symptoms of these issues is imperative
given the severity of the outcomes.
Hydrocephalus is a chronic condition that can lead
to substantial medical costs.184It occurs in approxi-
mately 11–90% of those with SB,3,10,16,20most often
occurringinthosewithahigherleveloflesion.12Inone
study of adults with SB and a mean age of 30, approxi-
mately16%neverhadashuntplaced,28%hadashunt
that was never revised, 18% had shunts that were only
revisedininfancy,and39%hadshuntrevisionsbetween
the ages of 2 and 31.98The highest incidence of shunt
revisions tends to occur during the first year of life;
however, there is another peak in the number of shunt
revisions occurring in the early teenage years that ex-
tends into adulthood.185Shunt malfunction can occur
for various reasons, including obstruction (distal or
proximal),disconnection,fracture,migration,andinfec-
tion.186Common presenting symptoms include head-
aches, vision changes, gait disturbances, nausea, vomit-
ing, and death; however, many times, asymptomatic
increases in intracranial pressure occur.185Hydroceph-
alus can also lead to hypothalamic and pituitary dys-
function that is associated with precocious puberty that
occurs more commonly in women.187An insidious and
mild decline in cognitive or neuropsychological func-
tioning can sometimes be the only presenting symp-
tom.188Long-standing overt ventriculomegaly is an en-
tity that refers to a pronounced decrease in intracranial
compliance secondary to a chronic and slowly progres-
sive hydrocephalic state.189It has been associated with
multiple problems, including intermittent headaches,
subnormalIQ,andpsychiatricproblems,specificallyde-
pression.189
Although there are no standard protocols to fol-
low hydrocephalus in the adult, radiologic assess-
ment should be performed when shunt malfunction
1032
Dicianno et al.
Am. J. Phys. Med. Rehabil. ● Vol. 87, No. 12

Page 8

is suspected. However, about 10% of head CT and
MRIstudiescanshowsmallventriclesinthepresence
of shunt failure.190,191Ventricles may be poorly com-
pliant, the shunt may be over- or intermittently
draining, the shunt may be leaking, or the patient
may have slit ventricle syndrome, a condition in
which the ventricles seem decompressed but revision
may be necessary. Furthermore, small ventricles may
have preceded malfunction, so it is important for
physiatrists to obtain baseline imaging when the
shunt is functioning so that future comparisons can
be made in an urgent situation. Neurosurgical eval-
uation should be performed regardless of imaging
findings if malfunction is suspected because missing
a diagnosis of malfunction can result in death.190In
cases in which the ventricles are enlarged, it is like-
wise important to compare with baseline imaging.
Not all cases of enlarged ventricles suggest malfunc-
tion190; however, in cases in which malfunction is
still suspected, evaluation includes other neurosurgi-
cal diagnostic modalities, such as shunt X-rays, shunt
taps, intracranial pressure monitoring, shunt patency
studies, inpatient observation, or surgical explora-
tion.190,192Endoscopic third ventriculostomy has been
anothertechniquetomanagehydrocephalus,193butthe
outcomes are variable, and this technique may make
subsequent obstructive symptoms difficult to diag-
nose.194
Tethered cord results from the fixation of the
spinal cord to inelastic structures and typically
occurs at sites of scar formation from previous
surgery.3,10,12,15,195It is a common finding, and
many individuals remain asymptomatic. It be-
comes clinically relevant when individuals de-
velop symptoms, in which case it is called
TCS.195The most frequent clinical symptoms
include motor dysfunction and pain in the back,
legs, or both.196The incidence of TCS in those
with SB ranges from approximately 20% to 55%
and is increased in those with lower level lesions
or a history of previous tethered cord re-
lease.3,10,12,15,195Specifically, the incidence of TCS
occurring after SB repair has been reported to be
between 3% and 15%, with the incidence of pro-
gression increasing with time since SB repair.195,197
Common presenting symptoms include back and
lower limb pain, weakness, sensory changes, urinary
symptoms, foot deformities, and scoliosis.195,198,199
Those with suspected TCS are commonly advised to
avoidflexion,twisting,andheavylifting,butthereare
no published data to delineate spinal precautions in
adults.
Common findings on physical examination in-
clude sensory loss, hyperreflexia, spasticity, clonus,
and Babinski’s sign, but they may not appear until
dysfunction is advanced.200MRI has become the
“gold standard” for detecting tethered cord, but CT
myelogram has also been used, especially in cases
when MRI is contraindicated.195Findings on MRI
that suggest tethered cord include an elongated cord,
posteriorly displaced filum or conus medullaris,
thickened filum, or low-lying conus (below L1–L2 or
L2–L3), but these findings are not always present on
imaging.201The actual characteristics of the tether-
ing can only be definitely delineated during sur-
gery.201Somatosensory evoked potential may help in
diagnosis and predicting outcomes postsurgery.195
Because evidence of a tethered cord is com-
monly seen on imaging studies in asymptomatic
individuals,202surgery should be considered only
when the clinical presentation supports the diag-
nosis of TCS.197In general, surgical release in TCS
has led to good outcomes and should be per-
formedassoonas possible
tion.195,196,198,199,203,204Maher et al.198reported
postsurgical symptomatic improvement in pain
(81%), urinary symptoms (53%), and weakness
(48%). An increasing number of untethering pro-
cedures in those with previous SB repair have been
associated with worse outcomes, specifically, poor
pain relief and a greater chance of morbidity.198In
addition, those with previous SB repair tend to
have worse overall disability scores and poorer neu-
rological outcome than those with a history of
closed or occult dysraphism.195Common postsur-
gical complications include wound infections, cere-
brospinal fluid leakage, pseudomeningocele, and dys-
aesthetic lower limb pain.195,198Currently, there are
no studies evaluating the efficacy of oral neuropathic
medications such as gabapentin on pain due to TCS.
The skills of a physiatrist in the detection of func-
tional and neurological changes in this population
are thus crucial for prompt recognition and referral
for neurosurgical intervention.
The most common type of Chiari malforma-
tion in individuals with SB is type II, which is
defined radiologically by the herniation of hind-
brain structures through the foramen magnum.205
The most common presenting symptoms include
bilateral upper limb weakness, sensory changes,
dysphagia, headaches, and ataxia.206,207The preva-
lence of Chiari malformation may be more than
75% in adults with SB, and it is likely commonly
associated with syringomyelia.183It seems only
those with radiologic findings of a Chiari mal-
formation develop symptoms, but absence of
symptoms is not predictive of a normal MRI.183
Typically, surgical decompression of the posterior
fossa and upper cervical spine is performed when
symptoms associated with radiologic findings are
present. Early intervention improves the chance of
neurological and functional recovery.206
Hydrosyringomyelia technically refers to a col-
lection of cerebrospinal fluid in the central spinal
cord, and syringomyelia refers to collections that
are paracentral; however, syringomyelia is often
after presenta-
December 2008 Rehabilitation and Management of Spina Bifida
1033

Page 9

used as the collective term, and we will use it here
to refer to both findings. The prevalence of syrin-
gomyelia in the adult population with SB is not
available. Cervical syringomyelia has been associ-
ated with Chiari malformations as mentioned
above,183,206but its incidence occurring at other
levels of the spinal cord is unclear. Terminal syrin-
gomyelia, cystic dilation of the lower third of the
spinal cord, is commonly associated with occult
spinal dysraphism and a tethered spinal cord.208
Large fluid collections are usually symptomatic
and are typically associated with motor impair-
ments, sensory impairments, scoliosis, and bowel
and bladder dysfunction.208MRI is typically the pre-
ferred imaging modality, and surgical intervention
usually consists of suboccipital decompression or
shunting of the syrinx into the subarachnoid space,
the peritoneum, or the pleural cavity.206,208,209Sur-
gery should be considered when a syrinx is clinically
orradiographicallysignificant.208Noliteratureiscur-
rently available on the use of electrophysiological
studies in the evaluation of syringomyelia.
Chronic headaches have been shown to be a
frequent problem in the adult with SB. The etiol-
ogy of headaches in this population is diverse and
has been reported as follows: unknown etiology
(35%), shunt blockage (25%), decompensation of
previously arrested hydrocephalus (10%), Chiari
malformation (8%), scar neuralgia (6%), tension
headache (4%), migraine (4%), endoscopic third
ventriculostomy failure (4%), shunt over drainage
(2%), and choroid plexus coagulation failure
(2%).207Evaluation of headaches in this population
should first consist of ruling out life-threatening
etiologies, including neuro-imaging and intracra-
nial pressure monitoring if indicated by clinical
history and findings. If a definitive etiology is not
identified, then specialized headache pain manage-
ment should be pursued. Ten percent of hydroce-
phalic adults with SB have been noted to require
specialist pain management for control of chronic
idiopathic headaches.207
The incidence of epilepsy and seizures ranges
from 3% from 23% in the adult SB popula-
tion.3,12,14,21The incidence increases with higher
level lesions,12and the etiology is most likely mul-
tifactorial.210Adequate control of seizures is inte-
gral to reducing morbidity and maximizing qual-
ity of life.
Early-onset osteoarthritis of the spine may also
occur. Lumbar canal stenosis could be a potential
cause of neurological deterioration. More research
is needed on treatment of spine disorders, partic-
ularly in the area of interventional spine proce-
dures, as the unique approaches used and their
efficacies have not been documented in individuals
with SB.
Renal/Urological
Bladder disturbances commonly affect be-
tween 24 and 94% of children and adults with
SB.12,16,20,21,211,212Those with SB aperta, hydro-
cephalus, and a lesion level of L5 or above are more
likely to have urinary and/or fecal incontinence211;
however, it has been proposed that cervical and
upper thoracic SB are associated with a lower risk
of voiding disorders.213Urinary sepsis is a common
reason for hospital admissions,214and renal failure
is often cited as the most common cause of death
in adults with SB.9Those undergoing early neuro-
surgical treatment (before age 1.5 yrs) are more
likely to have normal bladder function in the long-
term,215and the presence of perineal sensation in
infancy is associated with the long-term outcomes
of improved survival, decreased renal complica-
tions, and the likelihood of continence.216
SB can affect the bladder in a number of ways.
Combined degeneration and regeneration in the
intrinsic nerves of the detrusor have been noted in
upper motor neuron neurogenic bladder dysfunc-
tion,217and retention is the most common bladder
pattern.218Commonly reported symptoms include
urgency, frequency, incontinence, hesitancy, slowed
stream, double voiding, and inability to void after
feeling of urge.218Retention of less than 100–200 ml
is considered acceptable.
Urodynamictestingisconsideredthegoldstandard
for diagnosing neurogenic bladder. A wide spectrum of
urodynamic abnormalities have been observed, in-
cluding upper and lower motor neuron types of blad-
der and urethral dysfunction.219,220Those with a
overactive sphincter have the best chance of be-
coming continent.220
Many treatments for urinary incontinence are
available for individuals with SB.221Achievement
of urinary continence is associated with a better
self-concept.222Anticholinergic agents are the main-
stay of treatment.218,223,224Oxybutynin and tolterod-
ine are first generation anticholinergic medica-
tions commonly used. Side effects such as dry
mouth, constipation, and blurred vision may limit
the amount of drug one can tolerate.224Newer
antichiolinergic medications, including solifena-
cin, darifenacin, and trospium,224are supposedly
more selective at blocking cholinergic receptors on
the bladder than in the periphery, but long-term
outcome data are lacking. Imipramine is a tricyclic
antidepressant that has been reported to limit blad-
der contractions and improve storage.224Like all
tricyclic antidepressants, imipramine can also
cause undesirable side effects such as dry mouth,
constipation, and dizziness. For cases of refractory
nocturia or enuresis, desmopressin acetate is used
to limit urine production and is available in tablet
form or as a nasal spray.224Doxazosin mesylate,
1034
Dicianno et al.
Am. J. Phys. Med. Rehabil. ● Vol. 87, No. 12

Page 10

tamsalosin hydrochloride, and terazosin hydro-
chloride are examples of alpha-1-adrenergic antag-
onists, and they can be used in both men and
women due to spasticity of the internal sphincter,
pelvic floor, or bladder neck. Side effects of these
medications include dizziness or headache. Be-
thanechol stimulates cholinergic receptors and
helps the bladder contract more forcefully so that
urine can be expelled.
When symptoms of retention are not resolved
adequately with behavioral techniques and/or med-
ications, catheterization should be considered.
Many individuals report that self-catheterization
improves quality of life and self-esteem.225,226Al-
though women tend to accept the concept more
willingly than men, the procedure is more difficult
for women. Those who have sphincter hypereflexia,
have detrusor hypo- or arelfexia, and regularly per-
form bladder emptying using clean intermittent
catheterization have been shown to have the best
success in achieving social continence.227Feasibil-
ity and practicality can be influenced by a number
of other factors, including limited manual dexter-
ity, lower limb spasticity, cognitive impairment,
availability of assistance, and accessibility of public
restroom. Catheterization is recommended to be
done at 3–6 times per day.225There are relatively
few complications associated with clean intermittent
catheterization, the most common being macro-
scopic hematuria and infections.228–230We found no
evidence that there is an association between the
number of urinary tract infections and either the
type of catheter used (sterile vs. clean reused) or
prophylactic antibiotics.229,231Asymptomatic bac-
teriuria in those using clean intermittent catheter-
ization does not require antibiotic therapy unless
vesicoureteral reflux is present.232However, the
main reason for emergency room visits in this
population is urinary tract infection.233A long-
term indwelling catheter should only be used as a
short-term method to manage bladder emptying in
individuals whose bladder cannot be fully emptied
and for whom intermittent catheterization is not an
option. A suprapubic catheter can be used to manage
bladder activity in these individuals.
Stress incontinence can often be managed by
injection of collagen or other biocompatible mate-
rial into the urethra.218,234Although periurethral
collagen injections showed initial promise, the
long-term results have been poor and are likely
secondary to degradation of the collagen.235Addi-
tionally, artificial sphincters have been used, but
their limited long-term survival has brought into
question their long-term use.236Surgical sling and
bladder neck wrap operations are another option
for urologic dysfunction in those with SB.237,238
Several types of urostomies exist: ileal conduit,
colonic conduit, and appendicovesicostomy.239An
appliance can be placed over the opening to collect
urine or the stoma, which can be created in the
navel, can be catheterized intermittenly. In few
instances, enlargement of the bladder via augmen-
tation cystoplasty or autoaugmentation may be in-
dicated with very small bladder capacity and asso-
ciated urinary incontinence.240–243During this
major surgery, the bladder is expanded using in-
testinal tissue or engineered bladder tissue, which
is a relatively recent advancement.244Electrolytes
need to be monitored periodically in those who
have undergone bladder augmentation, specifically
ileal augmentation, as serum bicarbonate and chlo-
ride levels can be abnormal.245The electrolyte ab-
normalities seem to normalize during long-term
follow-up.246
A more recent innovation is the injection of
botulinum toxin into
der.218,224,247,248Although injection effects are not
permanent, they can provide improvement without
major surgery.247,248In those with overactive bladder,
injections into the bladder can help to relax the muscle
andthereby,decreasefrequency,urgency,andorincon-
tinence while increasing volume within the bladder.247
Repeat injections may be necessary after 6–12 mos.247
Intravesical oxybutynin is another option for treatment
of neurogenic bladder.218,224,249Its efficacy has been
reported to be 66–87% depending on the dosage giv-
en.250Immediate posttreatment cystometrogram was
predictive of the overall response to intravesical oxybu-
tynin treatment on follow-up studies.251Earlier studies
using transurethral electrical stimulation for the reha-
bilitation of the neurogenic bladder showed mixed to
poor results.252,253
Without adequate urological management, the
upper urinary tract can be adversely affected. Br-
uschini et al.254demonstrated that 26% who were
urologically untreated had evidence of kidney dam-
age. Specifically, a detrusor leak point pressure
more than 40 cm H2O and a decrease in functional
bladder capacity to less than or equal to 33% was
associated with upper urinary tract damage.254
Early and appropriate initiation of urological man-
agement will help to safeguard renal function in
those with SB and may preserve renal function for
a lifetime.223,255,256Screening for renal disease
should be performed routinely in SB.257Typically,
ultrasonography is used, but magnetic resonance
urography is being investigated and shows prom-
ise, especially when imaging is difficult due to body
habitus.258,259Persun et al.260showed that none of
the adults with SB in their study with a normal
renal ultrasound and normal serum creatinine
(?1.5 mg/dl) had evidence of increased bladder
pressure on cystometry. They recommend yearly
renal ultrasound and serum creatinine for screen-
ing and urologic consultation and urodynamics
only if abnormalities were noted.260However, se-
the urethra orblad-
December 2008Rehabilitation and Management of Spina Bifida
1035

Page 11

rum creatinine alone is an unreliable predictor of
renal function in those with SB. Specifically, Quan
et al.261showed that once the serum creatinine is
greater than 0.5 mg/dl, glomerular filtration rate
determined from a clearance study is the only
reliable method to assess renal function in individ-
uals with SB.261Renal transplant has been used
successfully in individuals with SB and should be
considered as a possible treatment for end-stage
renal disease.262–265
Various other renal and urologic complica-
tions have also been identified in adolescents and
adults with SB. Bladder cancer incidence is similar
to the general population but can present at a
young age, be more invasive, and be associated
with poor survival.266Associated risk factors for
bladder cancer have not been described fully; how-
ever, the urothelium is frequently abnormal in
young adults with SB who are performing inter-
mittent catheterization.267
Bladder and renal calculi are associated with
neurogenic bladder in the young adult with
SB.268,269The exact etiology of stone formation is
unclear, but history of urinary diversion, bladder
augmentation, and urinary tract infection all cor-
related significantly with urolithiasis.269Stone
analysis in one study demonstrated calculi com-
posed of struvite (39%), calcium phosphate (35%),
uric acid (13%), and calcium oxalate (13%).269
Advances in urologic treatment of neurogenic blad-
der have reduced infections, and metabolic stones are
now more commonly identified.268Compared with
extracorporeal shock wave lithotripsy, endoscopic
procedures are the preferred treatment of renal cal-
culi in those with a urinary diversions.270
Sexuality
Sexual education is an important part of reha-
bilitation care,271,272but very few individuals get
sexual education from physicians.273Impairments
of cognition and manual dexterity, inadequate sex-
ual education, overprotective parenting, and lack of
information from healthcare providers can impede
healthy sexual development.187Furthermore, lack
of social relationships and poor self-perceptions of
body image can delay emotional maturation. Over
95% of individuals with SB report they need more
information about sexuality and fertility274; yet,
most are sexually active or intimate with a partner
despite not having adequate information.275,276
One study showed those with hydrocephalus may
be less active than those without hydrocephalus.277
Another survey showed that almost 25% of adoles-
cents with SB knew nothing about conception or
contraception.278Moreover, those with inconti-
nence are less likely to be sexually active.273In
both men and women, continence is associated
with being more sexually active.279
Fewer than 25% of men with SB at T11-L2 can
achieve either psychogenic erections, which are
mediated through the corticospinal tracts and pu-
dendal nerves or reflexogenic erections, which are
mediated through spinal cord reflex arcs.187The
presence of an anocutaneous reflex has been asso-
ciated with ability to achieve erection even at these
lesion levels.187Almost 75% of men with SB at or
below L3 have erections, and most in this group
have some penile sensation.187However, many
men are sexually active regardless of whether
they have sensation or are able to achieve erec-
tion.280Overall, most men with SB begin sexual
activity later than unimpaired peers281and have
lower sexual satisfaction than women with SB.282
The only randomized, controlled trials we en-
countered in this review were two studies reporting
significant improvements in erectile dysfunction in
men with SB with the use of silendafil.283,284Other
treatments available for erectile dysfunction are
penile prostheses, vacuum pumps used with con-
striction rings, prostaglandin E1, and papaverine
injections with or without phentolamine.187There
has been one report of ilioinguinal nerve bypass to
restore sensation to the dorsal penis.285
Those with sacral lesions are usually able to
ejaculate,279but this is uncommon for higher le-
sions. Transrectal electrical stimulation and vibra-
tor stimulation can be used in some cases.187Male
infertility may be due to erectile dysfunction, ret-
rograde ejaculation, primary testicular failure from
cryptorchidism, or medications such as chronic
antibiotics or tricyclic antidepressants.187Sexual
development, sexual function, prostatic growth, or
prostatic morphology have been shown not to be
altered by placement of an artificial urinary sphinc-
ter around the bladder neck.286Reproductive po-
tential is favored by lower and less severe le-
sions.287Men with lesions above T10 are at higher
risk for azoospermia.288
There is an increased risk of neural tube de-
fects in children of fathers with SB, but there has
been scant research on the role paternal folate may
play in prevention.288
should be part of routine care for those with SB.289
Folic acid supplementation has been shown to be
as effective in increasing blood folate levels in in-
dividuals with SB when compared with controls with
other disabilities.290In women of child-bearing age
with SB, current recommendations are for 4 mg of
folate supplementation daily, which is 10 times the
typical daily dose recommended.291
More than 90% of women with SB at or below
L3 have sexual sensation and more than 40% are
able to have orgasms.279Lubricants are recom-
mended for those who experience dryness.187
Women are usually fertile. Pregnancy, however,
may be complicated by increased neurogenic blad-
Nutritional counseling
1036
Dicianno et al.
Am. J. Phys. Med. Rehabil. ● Vol. 87, No. 12

Page 12

der symptoms, urinary tract infections, and by pel-
vic deformities that may make delivery difficult.187
Genetic counseling is also necessary given that
both men and women with SB have an increased
risk of having a child with SB.187Although obvious
for some clinicians, others may need reminding
that not all individuals with SB are heterosexual.187
Thus, counseling on sexual matters should be tai-
lored for sexual orientation.
Important considerations when discussing
contraceptive measures are the manual dexterity
required to use the contraceptive device, risk of
thromoboembolism with oral contraceptives, and
the importance of using latex-free condoms.187
There are no studies that suggest a preferred
method of contraception. Education should also be
given on masturbation, hygiene during menses, sex-
ually transmitted diseases, and sexual abuse. Both men
and women may experience incontinence during or-
gasmandshouldbecounseledonemptyingthebladder
before sex. However, painful bladder spasms can also
occur with an empty bladder.187
Most published research on pregnancy in SB is
descriptive or case study in nature, and much of
this literature is up to three decades old.292Al-
though the literature supports low complication
rates and positive outcomes with pregnancy,293de-
creased mobility and increased rates of pressure
ulcer development have been noted.293Although
anatomy is an important consideration during pro-
cedures, no prospective studies have evaluated
placement of epidural anesthesia catheters or out-
comes of cesarean section. In general, vaginal de-
livery is preferred, and caesarean section should be
performed for obstetric reasons only.294The pres-
ence of a shunt and altered anatomy due to uro-
logical surgeries should be noted when cesarean
sections are considered.294We did not find any
studies that focused on the adult with SB as a
parent.
Bowel Management
The psychosocial effects of neurogenic bowel
can be profound. Incontinence alone is likely not
the sole determinant of health-related quality of
life295; however, it acts as a social stigma for chil-
dren and a barrier for adults seeking employ-
ment.296Sixty-six to 83% of those with SB perceive
fecal incontinence as a problem.211,297Most individ-
uals suffer from constipation, fecal incontinence, or
both.298,299Voluntary retention of stool is often com-
promised due to a highly compliant rectum and weak
external anal sphincter.300Impaired reflex arcs between
the colorectum and sacral spinal cord result in reduced
emptying of the rectosigmoid and descending colon.301
Constipationmayalsooccurbecauseofincreasedtransit
time through the colon and the absence of reflex con-
traction in response to rectal distension.302Bowel dys-
function can be a cause of abdominal symptoms in
individuals with SB, but other etiologies need to also be
considered. Worley et al.303identified neurogenic blad-
der (41%), neurogenic bowel (14%), ventricular perito-
neal shunt complications (18%), and complications
from previous surgeries (9%) as the most frequent
causes of acute abdominal symptoms in children and
young adults with SB.
The goal of any bowel program in an individual
with SB should be to create a scheduled and pre-
dictable bowel movement that will adequately evac-
uate stool from the colon. Better bowel continence
can be achieved through emphasizing patient/fam-
ily education and a regular, consistently timed,
reflex-triggered bowel evacuation.304Additionally,
Leibold et al.296formulated an algorithm for step-
wise decision-making to help individuals with SB
and their healthcare providers construct a success-
ful continence program. The protocol contains 13
assessment points, including stool consistency, fre-
quency and amount; mobility; level of paraplegia;
diet; medication; anal/rectal canal tone; prior pro-
grams attempted; family routines; age; accessibility;
and learning issues.296The best bowel program is the
one that maintains continence and best fits the indi-
vidual’s lifestyle.305This is typically achieved through
a combination of treatments.296,306Bowel programs
will likely need to be adjusted to accommodate the
changing needs of the individual as he or she ages
and the social situation changes.306Key elements
for monitoring a continence program include the
degree of constipation and its etiology; changing
age; family availability for assistance; wheelchair
accessibility of the toilet; and ability to transfer to
and from the toilet.296
Diet modification, including the addition of
high fiber, green tea, and coffee to increase stool
bulk and regulate bowel motility has been de-
scribed.307Patients may benefit from limiting or
avoiding the following foods: citrus fruit, fruit
juice, passion fruit, pineapple, corn, baked beans,
chocolate products, and nuts. To soften stools, a
diet rich in fiber, fluid, and fat, but moderate in
sugar may prove beneficial. Manual evacuation and
digital stimulation are also commonly used, with
or without the concurrent intake of oral medica-
tion.211Medications used in bowel management of
children and adults with SB include stool soften-
ers, laxatives and bulk formers. Enemas and sup-
positories can be used to facilitate bowel evacua-
tion, and large-volume retrograde colonic enemas
canbeusedevery1or2daystoreducesoiling302,308,309;
however, the disadvantage of cleansing only the left
side of the colon is noted with this technique.302
Biofeedback has been somewhat successful in those
5–16yrsoldwithSB,310butotherstudieshaveshown
mixed results.311
December 2008Rehabilitation and Management of Spina Bifida
1037

Page 13

Surgical procedures are often used for fecal
incontinence that is refractory to conservative
treatments. A continent appendicostomy (Malone
procedure) connects the appendix to the umbili-
cus, and the new orifice can be used to administer
an antegrade colonic enema.312–315Reports in the
literature describe positive clinical experiences with this
procedure, including reliable colonic emptying, de-
creased fecal soiling, high satisfaction, and increased
independence with regard to bowel function.302,312–316
Other options include cecostomy or ileal conduit.317,318
These can be performed surgically, endoscopically, or
radiologically to provide some of the same benefits as
an appendicostomy while sparing the appendix for
urinary tract reconstruction.317,319A high degree of
satisfaction has been reported with this proce-
dure.317,319Complications from either procedure
include the formation of granulation tissue, steno-
sis of the stoma, dislodging of the tube, and leakage
of the irrigation solution.302,314–317,320
There were no specific protocols or recom-
mendations specific to adult bowel management
identified in our search. Overall, the above-men-
tioned treatments are adapted to each individual.
Further research is needed to determine which
bowel programs or treatments are most likely to be
effective in adults with SB.
Cardiac/Endocrinology
The prevalence of metabolic syndrome is more
than 30% in adolescents with SB.321Individuals
with SB have a significantly higher percent body fat
than individuals with no impairments and normal
weights, but this percentage is similar to the gen-
eral overweight population.322Excess adipose tis-
sue increases with age while height decreases with
age when compared with reference data.323–325Be-
ing overweight seems to affect quality of life of
those without impairments more than it does for
individuals with SB.326Aerobic capacity with lower
peak VO2, total lean mass, resting energy expendi-
ture, and upper limb strength are significantly re-
duced in individuals with SB.322,327,328Rehabilita-
tion protocols should target upper limb strength
with resistance training programs combined with
aerobic activities such as swimming and ergometry
hand cycling. Performance may be limited by pe-
ripheral arterial pooling of blood and subsequent
reductions in cardiac preload, but low-intensity,
short duration training with arm ergometry can
increase peak oxygen intake and cardiac stroke
volume.329Additionally, Widman et al.330showed
that adolescents with SB who used an upper limb
hand cycle integrated with a video game at least 3
times per week for 16 wks were able to improve
oxygen uptake and maximum work capability. As
individuals with SB continue to live longer, main-
tenance of good cardiac health will become in-
creasingly important. Renal failure is still cited as
the most common cause of death in adults with SB,
but cardiac disease is becoming more common and
is cited in one study as the second leading cause of
death.9Future studies should focus on elucidating
the prevalence, determining screen protocols, and
determining the best management of cardiac and
endocrine disease in adolescents and adults with SB.
Skin
The management of wounds is complex and
beyond the scope of this article; furthermore, most
published literature on this topic is not specific to
SB. The cost of skin care in the SB population is
very large. In an older study by Harris and
Banta,3312 million dollars and the equivalent of 17
yrs in hospital days were needed to treat skin dis-
orders in 75 patients with SB during a 13-yr period.
Additionally, wound infections after surgical pro-
cedures commonly occur in individuals with SB,
and they are often polymicrobial and caused by
more gram-negative organisms than what is typi-
cal.332Another skin complication includes burns
that can occur to the insensate limb, especially
when modalities are used in therapy.333
Thromboembolism
The literature is sparse on deep venous throm-
boembolism (DVT) in those with SB. We only iden-
tified one retrospective review334and one case se-
ries in our search.335Individuals with SB have
multiple inherent risks for the development of
DVTs, including venous stasis or lymphedema, im-
mobility, paraparesis, obesity, and significant sur-
gical history.334Levey et al.334report that 2% of
children and adults in their study developed DVTs.
The risk of DVT increased in the mid-teen years
and was associated with higher motor level le-
sions.334Studies should be performed to further
elucidate risk factors and preventative strategies
for DVTs in this population. DVT prophylaxis
should be highly considered for young adults with
SB who are nonambulatory and are undergoing
significant orthopedic, neurosurgical, or abdomi-
nal surgeries.334Additionally, there is some evi-
dence that suggests lymphatic dysfunction may be
present in SB.336Lymphedema should be distin-
guished from lipedema, which is lower limb en-
largement due to fatty deposition.
Latex Allergy
The prevalence of latex sensitization has been
reported to be between 40 and 48% in two recent
studies,337,338with only about 15% exhibiting clin-
ical allergic reactions to latex.338There seems to be
a propensity for those with SB to develop latex
allergies compared with others who undergo sim-
ilar types of procedures as children.337,339,340When
1038
Dicianno et al.
Am. J. Phys. Med. Rehabil. ● Vol. 87, No. 12

Page 14

compared with healthcare workers, those with SB
had a markedly different and more severe immu-
noglobulin E response to proteins and allergens in
rubber latex.341There has been some debate re-
garding the contribution of associated atopy, asso-
ciated family history of allergies, age, presence of
shunt, and the number of surgical operations to
the development of latex allergy.339,342–344Nigge-
mann et al.345showed an increased number of
operations and the presence of a shunt were asso-
ciated with an increased risk of developing sensiti-
zation and allergy to latex. However, recent studies
have not shown an association between the num-
ber of surgical operations and the presence of a
shunt with the development of latex sensitiza-
tion.339,342,343It has been theorized that sensitiza-
tion may occur after only the first operation.340
Nevertheless, latex allergies are very common in
those with SB, and a latex free environment should
be maintained at all times when treating these
individuals regardless if they have known latex
sensitization or allergy. Prophylaxis via environ-
mental changes whereby a latex-free environment
is observed could lead to a reduction in latex sen-
sitization.346Rubber stoppers within syringes used
for joint or trigger point injections can contain
latex, and cross-contamination could theoretically
occur when using multiple use vials of medica-
tions, but there have been no studies on this topic.
Patients with confirmed latex allergy may also ben-
efit from nutrition education regarding the poten-
tial for immunologic cross reactivity between latex
proteins and various proteins in foods. Some ex-
amples include avocadoes, bananas, kiwis, and
chestnuts.
Ophthalmology
Visual disturbances often occur in individuals
with physical disabilities, including individuals
with SB.347Papilledema can be an indication of
hydrocephalus, but papilledema is not always
present with shunt failure.191,348Vision can some-
times improve after shunt revision; however, there
are no outcomes studies specific to adults. Other
ophthalmologic disorders are also relatively com-
mon in patients with SB, including strabismus
(most common), esotropia, exotropia, and ortho-
tropia.349,350Strabismus and spontaneous nystag-
mus are associated with the degree of hydrocehalus
and extent of lower brainstem deformities.351Oc-
ular motility defects are associated with lower
brainstem lesions and convergence defects are as-
sociated with upper brainstem lesions.351Addition-
ally, strabismus, nystagmus, esotropia, and other
ocular motor disorders are associated with Chiari
malformations in those with SB.352It has been
hypothesized that these visual disorders might be
related to skeletal or extraocular muscle pulley devel-
opment.349Routine screening for visual impair-
ments,especiallystrabismus,andtheassociatedcom-
plicationsshouldbeperformedonallindividualswith
SB to ensure that they maintain their vision into and
throughout adulthood. Although there are not stan-
dard protocols for screening, at a minimum annual
ophthalmologic examination should be considered.
LIMITATIONS AND FUTURE DIRECTIONS
One limitation of this article is the singular
use of PubMed as a database. Certainly, there is a
wealth of data on how neuropsychiatric challenges
may complicate the medical and rehabilitation care
of adults. Future work is needed on condensing
and reviewing this literature. Additionally, this
study includes references from older studies that
may be less relevant for a contemporary cohort of
patients. However, we have taken care to report
only relevant information from older articles. We
feel the inclusion of 20 yrs of research is justified
given that many landmark articles were published
in this timeframe. Also, since the reader now has
access to the last 20 yrs of literature in electronic
format in PubMed, we wished to consolidate what
he or she may encounter in online searches. A final
limitation is that we did not include studies that
focused only on individuals younger than 19 yrs.
Although some of this literature is potentially rel-
evant to the adult population, review of the pedi-
atric literature was beyond the scope of this article,
but should certainly be a topic of future literature
review.
CONCLUSION
As medical treatment continues to improve for
individuals with SB, they will continue to live
longer and will encounter a wide range of medical,
rehabilitation, and psychosocial complications. Fu-
ture research needs to focus on determining the
incidence, risk factors, preventative measures, di-
agnostic options, management options, and treat-
ment options of these complications. Optimal
management of these complications would allow
adult individuals with SB to maximize their func-
tion and quality of life.
REFERENCES
1. Dillon CM, Davis BE, Duguay S, et al: Longevity of
patients born with myelomeningocele. Eur J Pedi-
atr Surg 2000;10(suppl 1):33–4
2. McDonnell GV, McCann JP: Why do adults with spina
bifida and hydrocephalus die? A clinic-based study. Eur
J Pediatr Surg 2000;10(suppl 1):31–2
3. Bowman RM, McLone DG, Grant JA, et al: Spina
bifida outcome: A 25-year prospective. Pediatr Neu-
rosurg 2001;34:114–20
4. Shurtleff DB: 44 years experience with management of
myelomeningocele: Presidential address, Society for Re-
December 2008Rehabilitation and Management of Spina Bifida
1039

Page 15

search into Hydrocephalus and Spina Bifida. Eur J Pe-
diatr Surg 2000;10(suppl 1):5–8
5. Hunt GM: The median survival time in open spina
bifida. Dev Med Child Neurol 1997;39:568
6. Davis BE, Daley CM, Shurtleff DB, et al: Long-term
survival of individuals with myelomeningocele. Pe-
diatr Neurosurg 2005;41:186–191
7. Mukherjee S: Transition to adulthood in spina
bifida: Changing roles and expectations. Scientific-
WorldJournal 2007;7:1890–5
8. Hunt GM: The Casey Holter lecture. Non-selective
intervention in newborn babies with open spina
bifida: The outcome 30 years on for the complete
cohort. Eur J Pediatr Surg 1999;9(suppl 1):5–8
9. Singhal B, Mathew KM: Factors affecting mortality
and morbidity in adult spina bifida. Eur J Pediatr
Surg 1999;9(suppl 1):31–2
10. Kumar R, Singhal N: Outcome of meningomy-
elocele/lipomeningomyelocele
northern India. Pediatr Neurosurg 2007;43:7–14
11. Matuszczak E, Lenkiewicz T: Results of surgical
treatment of myelomeningocele. Eur J Pediatr
Surg 2006;16:337–42
12. Verhoef M, Barf HA, Post MW, et al: Secondary
impairments in young adults with spina bifida. Dev
Med Child Neurol 2004;46:420–7
13. Hunt GM, Oakeshott P: Outcome in people with
open spina bifida at age 35: Prospective community
based cohort study. BMJ 2003;326:1365–6
14. McDonnell GV, McCann JP: Issues of medical man-
agement in adults with spina bifida. Childs Nerv
Syst 2000;16:222–7
15. Selber P, Dias L: Sacral-level myelome ningocele:
Long-term outcome in adults. J Pediatr Orthop
1998;18:423–7
16. Singh U, Gogia VS: Rehabilitation of patients with
spina bifida. Indian J Pediatr 1997;64(6 suppl):
77–82
17. Hunt G: Open spina bifida: The Cambridge cohort
in their twenties. Eur J Pediatr Surg 1992;2(suppl
1):39
18. Hunt GM, Poulton A: Open spina bifida: A complete
cohort reviewed 25 years after closure. Dev Med
Child Neurol 1995;37:19–29
19. Farley T, Vines C, McCluer S, et al: Secondary
disabilities in Arkansas with spina bifida. Eur J Pe-
diatr Surg 1994;4(suppl 1):39–40
12. Brinker MR, Rosenfeld SR, Feiwell E, et al: Myelomen-
ingocele at the sacral level. Long-term outcomes in
adults. J Bone Joint Surg Am 1994;76:1293–300
21. Hunt GM: Open spina bifida: Outcome for a com-
plete cohort treated unselectively and followed into
adulthood. Dev Med Child Neurol 1990;32:108–18
22. Steinbok P, Irvine B, Cochrane DD, et al: Long-term
outcome and complications of children born with me-
ningomyelocele. Childs Nerv Syst 1992;8:92–6
23. Hagelsteen JH, Lagergren J, Lie HR, et al: Disability
in childrenof
in children with myelomeningocele. A Nordic
study. Acta Paediatr Scand 1989;78:721–7
24. Klingbeil H, Baer HR, Wilson PE: Aging with a
disability. Arch Phys Med Rehabil 2004;85(7 suppl
3):S68–S73; quiz S74–S65
25. McDonald CM: Rehabilitation of children with spi-
nal dysraphism. Neurosurg Clin N Am 1995;6:
393–412
26. Alexander MA, Steg NL: Myelo meningocele: Com-
prehensive treatment. Arch Phys Med Rehabil 1989;
70:637–41
27. Peterson PM, Rauen KK, Brown J, et al: Spina
bifida: The transition into adulthood begins in in-
fancy. Rehabil Nurs 1994;19:229–38
28. Binks JA, Barden WS, Burke TA, et al: What do we
really know about the transition to adult-centered
health care? A focus on cerebral palsy and spina
bifida. Arch Phys Med Rehabil 2007;88:1064–73
29. Young N, McCormick A, Mills W, et al: The transi-
tion study: A look at youth and adults with cerebral
palsy, spina bifida and acquired brain injury. Phys
Occup Ther Pediatr 2006;26:25–45
30. Sawyer SM, Collins N, Bryan D, et al: Young people
with spina bifida: Transfer from paediatric to adult
health care. J Paediatr Child Health 1998;34:414–7
31. Morgan DJ, Blackburn M, Bax M: Adults with spina
bifida and/or hydrocephalus. Postgrad Med J 1995;
71:17–21
32. Exner G, Burgdorfer H, Bohatyrewicz A, et al: The
lack of comprehensive care causing complications
in patients with myelodysplasia. Paraplegia 1993;
31:102–4
33. Brei TJ: The future of the multidisciplinary clinic.
ScientificWorldJournal 2007;7:1752–6
34. Spina Bifida Clinic Analysis Report. Available at:
http://www.sbaa.org/atf/cf/%7B99DD789C–904D-467E-
A2E4-DF1 D36E381C0%7D/SB_Clinic_Survey_Fi-
nal_Report.pdf. Accessed April 21, 2008
35. Morgan DJ, Blackburn MC, Bax MC: A new clinic
for young adults with spina bifida and/or hydro-
cephalus—Age 16–25 years. Eur J Pediatr Surg
1993;3(suppl 1):23–4
36. Bax MC, Smyth DP, Thomas AP: Health care of
physically handicapped young adults. Br Med J
(Clin Res Ed) 1988;296:1153–5
37. Kaufman BA, Terbrock A, Winters N, et al: Disband-
ing a multidisciplinary clinic: Effects on the health
care of myelomeningocele patients. Pediatr Neuro-
surg 1994;21:36–44
38. Okumura MJ, Campbell AD, Nasr SZ, et al: Inpatient
health care use among adult survivors of chronic child-
hoodillnessesintheUnitedStates.ArchPediatrAdolesc
Med 2006;160:1054–60
39. Young NL, Steele C, Fehlings D, et al: Use of health
care among adults with chronic and complex phys-
ical disabilities of childhood. Disabil Rehabil 2005;
27:1455–60
40. Kinsman SL, Doehring MC: The cost of preventable
1040
Dicianno et al.
Am. J. Phys. Med. Rehabil. ● Vol. 87, No. 12