Spina bifida (Latin: "split spine") is a developmental congenital disorder caused by the

incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are
not fully formed and remain unfused and open. If the opening is large enough, this allows a
portion of the spinal cord to protrude through the opening in the bones. There may or may not be
a fluid-filled sac surrounding the spinal cord. Other neural tube defects include anencephaly, a
condition in which the portion of the neural tube that will become the cerebrum does not close,
and encephalocele, which results when other parts of the brain remain unfused.
Spina bifida malformations fall into three categories: spina bifida occulta, spina bifida cystica
with meningocele, and spina bifida cystica with myelomeningocele. The most common location
of the malformations is the lumbar and sacral areas. Myelomeningocele is the most significant
and common form, and this leads to disability in most affected individuals. The terms spina
bifida and myelomeningocele are usually used interchangeably.
Spina bifida can be surgically closed after birth, but this does not restore normal function to the
affected part of the spinal cord. Intrauterine surgery for spina bifida has also been performed, and
the safety and efficacy of this procedure are currently being investigated. A study conducted with
mothers who had prior spina bifida births indicates the incidence of spina bifida can be decreased
by up to 70% when the mother takes daily folic acid supplements prior to conception.
Spina bifida meningocele and myelomeningocele are among the most common birth defects,
with a worldwide incidence of about 1 in every 1000 births. The occulta form is much more
common, but only rarely causes neurological symptoms.
Contents
[hide]
1 Classification
o 1.1 Spina bifida occulta
o 1.2 Meningocele
o 1.3 Myelomeningocele
1.3.1 Myeloschisis
2 Signs and symptoms
o 2.1 Physical complications
o 2.2 Neurological complications
2.2.1 Executive function
2.2.2 Academic skills
3 Pathophysiology
4 Prevention
5 Pregnancy screening
6 Treatment
o 6.1 In childhood
o 6.2 Transition to adulthood
7 Epidemiology
8 Fetal surgery research
o 8.1 MOMS trial
o 8.2 Endoscopic fetal surgery
9 Notable people
10 Additional images
11 See also
12 References
13 External links
Classification[edit]

Different classifications of spina bifida
Spina bifida occulta[edit]
Occulta is Latin for "hidden". This is the mildest form of spina bifida.
[1]
In occulta, the outer part
of some of the vertebrae is not completely closed.
[2]
The splits in the vertebrae are so small that
the spinal cord does not protrude. The skin at the site of the lesion may be normal, or it may have
some hair growing from it; there may be a dimple in the skin, or a birthmark.
[3]

Many people with this type of spina bifida do not even know they have it, as the condition is
asymptomatic in most cases.
[3]
The incidence of spina bifida occulta is approximately 10-20% of
the population,
[4]
and most people are diagnosed incidentally from spinal X-rays. A systematic
review of radiographic research studies found no relationship between spina bifida occulta and
back pain.
[5]
More recent studies not included in the review support the negative findings.
[6][7][8]

However, other studies suggest spina bifida occulta is not always harmless. One study found that
among patients with back pain, severity is worse if spina bifida occulta is present.
[9][10]

Incomplete posterior fusion is not a true spina bifida, and is very rarely of neurological
significance.
[11]

Meningocele[edit]
A posterior meningocele (pronounced /mnsil/) or meningeal cyst (pronounced
/mnndil/ /sst/) is the least common form of spina bifida. In this form, the vertebrae develop
normally, but the meninges are forced into the gaps between the vertebrae. As the nervous
system remains undamaged, individuals with meningocele are unlikely to suffer long-term health
problems, although cases of tethered cord have been reported. Causes of meningocele include
teratoma and other tumors of the sacrococcyx and of the presacral space, and Currarino
syndrome.
A meningocele may also form through dehiscences in the base of the skull. These may be
classified by their localisation to occipital, frontoethmoidal, or nasal. Endonasal meningoceles lie
at the roof of the nasal cavity and may be mistaken for a nasal polyp. They are treated surgically.
Encephalomeningoceles are classified in the same way and also contain brain tissue.
Myelomeningocele[edit]
This type of spina bifida often results in the most severe complications.
[12]
In individuals with
myelomeningocele, the unfused portion of the spinal column allows the spinal cord to protrude
through an opening. The meningeal membranes that cover the spinal cord form a sac enclosing
the spinal elements.
Myeloschisis[edit]
Spina bifida with myeloschisis is the most severe form of myelomeningocele. In this type, the
involved area is represented by a flattened, plate-like mass of nervous tissue with no overlying
membrane. The exposure of these nerves and tissues make the baby more prone to life-
threatening infections such as meningitis.
[13]

The protruding portion of the spinal cord and the nerves that originate at that level of the cord are
damaged or not properly developed. As a result, there is usually some degree of paralysis and
loss of sensation below the level of the spinal cord defect. Thus, the more cranial the level of the
defect, the more severe the associated nerve dysfunction and resultant paralysis may be. People
may have ambulatory problems, loss of sensation, deformities of the hips, knees or feet, and loss
of muscle tone.

X-ray image of spina bifida occulta in S-1

X-ray computed tomography scan of unfused arch at C1

Myelomeningocele in the lumbar area
(1) External sac with cerebrospinal fluid
(2) Spinal cord wedged between the vertebrae
Signs and symptoms[edit]
Physical complications[edit]
Physical signs of spina bifida may include:
Leg weakness and paralysis
[14]

Orthopedic abnormalities (i.e., club foot, hip dislocation, scoliosis)
[14]

Bladder and bowel control problems, including incontinence, urinary tract infections, and
poor renal function
[14]

Pressure sores and skin irritations
[14]

Abnormal eye movement
[15]

68% of children with spina bifida have an allergy to latex,
[16]
ranging from mild to life-
threatening. The common use of latex in medical facilities makes this a particularly serious
concern. The most common approach to avoid developing an allergy is to avoid contact with
latex-containing products such as examination gloves and condoms and catheters that do not
specify they are latex free, and many other products, such as some commonly used by dentists.
[2]

The spinal cord lesion or the scarring due to surgery may result in a tethered spinal cord. In some
individuals, this causes significant traction and stress on the spinal cord and can lead to a
worsening of associated paralysis, scoliosis, back pain, and worsening bowel and/or bladder
function.
[17]

Neurological complications[edit]
Many individuals with spina bifida have an associated abnormality of the cerebellum, called the
Arnold Chiari II malformation. In affected individuals, the back portion of the brain is displaced
from the back of the skull down into the upper neck. In about 90% of the people with
myelomeningocele, hydrocephalus also occurs because the displaced cerebellum interferes with
the normal flow of cerebrospinal fluid, causing an excess of the fluid to accumulate.
[18]
In fact,
the cerebellum also tends to be smaller in individuals with spina bifida, especially for those with
higher lesion levels.
[15]

The corpus callosum is abnormally developed in 70-90% of individuals with spina bifida
myelomeningocele; this impacts the communication processes between the left and right brain
hemispheres.
[19]
Further, white matter tracts connecting posterior brain regions with anterior
regions appear less organized. White matter tracts between frontal regions have also been found
to be impaired.
[15]

Cortex abnormalities may also be present. For example, frontal regions of the brain tend to be
thicker than expected, while posterior and parietal regions are thinner. Thinner sections of the
brain are also associated with increased cortical folding.
[15]
Neurons within the cortex may also
be displaced.
[20]

Executive function[edit]
Several studies have demonstrated difficulties with executive functions in youth with spina
bifida,
[21][22]
with greater deficits observed in youth with shunted hydrocephalus.
[23]
Unlike
typically developing children, youths with spina bifida do not tend to improve in their executive
functioning as they grow older.
[22]
Specific areas of difficulty in some individuals include
planning, organizing, initiating, and working memory. Problem-solving, abstraction, and visual
planning may also be impaired.
[24]
Further, children with spina bifida may have poor cognitive
flexibility. Although executive functions are often attributed to the frontal lobes of the brain,
individuals with spina bifida have intact frontal lobes; therefore, other areas of the brain may be
implicated.
[23]

Individuals with spina bifida, especially those with shunted hydrocephalus, often have attention
problems. Children with spina bifida and shunted hydrocephalus have higher rates of ADHD
than typically developing children (31% vs. 17%).
[21]
Deficits have been observed for selective
attention and focused attention, although poor motor speed may contribute to poor scores on tests
of attention.
[23][25]
Attention deficits may be evident at a very early age, as infants with spina
bifida lag behind their peers in orienting to faces.
[26]

Academic skills[edit]
Individuals with spina bifida may struggle academically, especially in the subjects of
mathematics and reading. In one study, 60% of children with spina bifida were diagnosed with a
learning disability.
[27]
In addition to brain abnormalities directly related to various academic
skills, achievement is likely affected by impaired attentional control and executive
functioning.
[20]
Children with spina bifida may perform well in elementary school, but begin to
struggle as academic demands increase.
Children with spina bifida are more likely than their typically developing peers to have
dyscalculia.
[28]
Individuals with spina bifida have demonstrated stable difficulties with arithmetic
accuracy and speed, mathematical problem-solving, and general use and understanding of
numbers in everyday life.
[29]
Mathematics difficulties may be directly related to the thinning of
the parietal lobes (regions implicated in mathematical functioning) and indirectly associated with
deformities of the cerebellum and midbrain that affect other functions involved in mathematical
skills. Further, higher numbers of shunt revisions are associated with poorer mathematics
abilities.
[30]
Working memory and inhibitory control deficiencies have been implicated for math
difficulties,
[31]
although visual-spatial difficulties are not likely involved.
[28]
Early intervention to
address mathematics difficulties and associated executive functions is crucial.
[31]

Individuals with spina bifida tend to have better reading skills than mathematics skills.
[30]

Children and adults with spina bifida have stronger abilities in reading accuracy than in reading
comprehension.
[32]
Comprehension may be especially impaired for text that requires an abstract
synthesis of information rather than a more literal understanding.
[33]
Individuals with spina bifida
may have difficulty with writing due to deficits in fine motor control and working memory.
[32]

Pathophysiology[edit]
Spina bifida is sometimes caused by the failure of the neural tube to close during the first month
of embryonic development (often before the mother knows she is pregnant). Some forms are
known to occur with primary conditions that cause raised central nervous system pressure, which
raises the possibility of a dual pathogenesis
Under normal circumstances, the closure of the neural tube occurs around the 23rd (rostral
closure) and 27th (caudal closure) day after fertilization.
[34]
However, if something interferes and
the tube fails to close properly, a neural tube defect will occur. Medications such as some
anticonvulsants, diabetes, having a relative with spina bifida, obesity, and an increased body
temperature from fever or external sources such as hot tubs and electric blankets may increase
the chances of delivery of a baby with a spina bifida.
Extensive evidence from mouse strains with spina bifida indicates that there is sometimes a
genetic basis for the condition. Human spina bifida, like other human diseases, such as cancer,
hypertension and atherosclerosis (coronary artery disease), likely results from the interaction of
multiple genes and environmental factors.
Research has shown the lack of folic acid (folate) is a contributing factor in the pathogenesis of
neural tube defects, including spina bifida. Supplementation of the mother's diet with folate can
reduce the incidence of neural tube defects by about 70%, and can also decrease the severity of
these defects when they occur.
[35][36][37]
It is unknown how or why folic acid has this effect.
Spina bifida does not follow direct patterns of heredity like muscular dystrophy or haemophilia.
Studies show a woman having had one child with a neural tube defect such as spina bifida has
about a 3% risk of having another child with a neural tube defect. This risk can be reduced to
about 1% if the woman takes high doses (4 mg/day) of folic acid before and during pregnancy.
For the general population, low-dose folic acid supplements are advised (0.4 mg/day).
[citation needed]

Prevention[edit]

Three-dimensional ultrasound image of the fetal spine at 21 weeks of pregnancy
Play media
Ultrasound view of the fetal spine at 21 weeks of pregnancy. In the longitudinal scan a lumbar
myelomeningocele is seen.
There is neither a single cause of spina bifida nor any known way to prevent it entirely.
However, dietary supplementation with folic acid has been shown to be helpful in reducing the
incidence of spina bifida. Sources of folic acid include whole grains, fortified breakfast cereals,
dried beans, leaf vegetables and fruits.
[38]

Folate fortification of enriched grain products has been mandatory in the United States since
1998. The U.S. Food and Drug Administration, Public Health Agency of Canada
[39]
and UK
recommended amount of folic acid for women of childbearing age and women planning to
become pregnant is at least 0.4 mg/day of folic acid from at least three months before
conception, and continued for the first 12 weeks of pregnancy.
[40]
Women who have already had
a baby with spina bifida or other type of neural tube defect, or are taking anticonvulsant
medication should take a higher dose of 45 mg/day.
[40]

Certain mutations in the gene VANGL1 are implicated as a risk factor for spina bifida: These
mutations have been linked with spina bifida in some families with a history of spina bifida.
[41]

Pregnancy screening[edit]
Neural tube defects can usually be detected during pregnancy by testing the mother's blood (AFP
screening) or a detailed fetal ultrasound. Increased levels of maternal serum alpha-fetoprotein
(MSAFP) should be followed up by two tests - an ultrasound of the fetal spine and amniocentesis
of the mother's amniotic fluid (to test for alpha-fetoprotein and acetylcholinesterase). AFP tests
are now mandated by some state laws (including California). and failure to provide them can
have legal ramifications. In one case a man born with spina bifida was awarded a $2 million
settlement after court found his mother's OBGYN negligent for not performing these tests.
[42]

Spina bifida may be associated with other malformations as in dysmorphic syndromes, often
resulting in spontaneous miscarriage. In the majority of cases, though, spina bifida is an isolated
malformation.
Genetic counseling and further genetic testing, such as amniocentesis, may be offered during the
pregnancy, as some neural tube defects are associated with genetic disorders such as trisomy 18.
Ultrasound screening for spina bifida is partly responsible for the decline in new cases, because
many pregnancies are terminated out of fear that a newborn might have a poor future quality of
life. With modern medical care, the quality of life of patients has greatly improved.
[34]

Treatment[edit]
There is no known cure for nerve damage caused by spina bifida. To prevent further damage of
the nervous tissue and to prevent infection, pediatric neurosurgeons operate to close the opening
on the back. The spinal cord and its nerve roots are put back inside the spine and covered with
meninges. In addition, a shunt may be surgically installed to provide a continuous drain for the
excess cerebrospinal fluid produced in the brain, as happens with hydrocephalus. Shunts most
commonly drain into the abdomen or chest wall. However, if spina bifida is detected during
pregnancy, then open or minimally-invasive fetal surgery can be performed.
[18]

In childhood[edit]
Most individuals with myelomeningocele will need periodic evaluations by a variety of
specialists:
[43]

Physiatrists coordinate the rehabilitation efforts of different therapists and prescribe
specific therapies, adaptive equipment, or medications to encourage as high of a
functional performance within the community as possible.
Orthopedists monitor growth and development of bones, muscles, and joints.
Neurosurgeons perform surgeries at birth and manage complications associated with
tethered cord and hydrocephalus.
Neurologists treat and evaluate nervous system issues, such as seizure disorders.
Urologists to address kidney, bladder, and bowel dysfunction - many will need to
manage their urinary systems with a program of catheterization. Bowel management
programs aimed at improving elimination are also designed.
Ophthalmologists evaluate and treat complications of the eyes.
Orthotists design and customize various types of assistive technology, including braces,
crutches, walkers, and wheelchairs to aid in mobility. As a general rule, the higher the
level of the spina bifida defect, the more severe the paralysis, but paralysis does not
always occur. Thus, those with low levels may need only short leg braces, whereas those
with higher levels do best with a wheelchair, and some may be able to walk unaided.
Physical therapists, occupational therapists, psychologists, and speech/language
pathologists aid in rehabilitative therapies and increase independent living skills.
Transition to adulthood[edit]
Although many children's hospitals feature integrated multidisciplinary teams to coordinate
healthcare of youth with spina bifida, the transition to adult healthcare can be difficult because
the above healthcare professionals operate independently of each other, requiring separate
appointments and communicate among each other much less frequently. Healthcare
professionals working with adults may also be less knowledgeable about spina bifida because it
is considered a childhood chronic health condition.
[44]
Due to the potential difficulties of the
transition, adolescents with spina bifida and their families are encouraged to begin to prepare for
the transition around ages 1416, although this may vary depending on the adolescent's cognitive
and physical abilities and available family support. The transition itself should be gradual and
flexible. The adolescent's multidisciplinary treatment team may aid in the process by preparing
comprehensive, up-to-date documents detailing the adolescent's medical care, including
information about medications, surgery, therapies, and recommendations. A transition plan and
aid in identifying adult healthcare professionals are also helpful to include in the transition
process.
[44]

Further complicating the transition process is the tendency for youths with spina bifida to be
delayed in the development of autonomy,
[45]
with boys particularly at risk for slower
development of independence.
[46]
An increased dependence on others (in particular family
members) may interfere with the adolescent's self-management of health-related tasks, such as
catheterization, bowel management, and taking medications.
[47]
As part of the transition process,
it is beneficial to begin discussions at an early age about educational and vocational goals,
independent living, and community involvement.
[48]

Epidemiology[edit]
Spina bifida is one of the most common birth defects, with an average worldwide incidence of
one to two cases per 1000 births, but certain populations have a significantly greater risk.
In the United States, the average incidence is 0.7 per 1000 live births. The incidence is higher on
the East Coast than on the West Coast, and higher in white people (one case per 1000 live births)
than in black people (0.10.4 case per 1000 live births). Immigrants from Ireland have a higher
incidence of spina bifida than do natives.
[49][50]
Highest rates of the defect in the USA can be
found in Hispanic youth.
[51]

The highest incidence rates worldwide were found in Ireland and Wales, where three to four
cases of myelomeningocele per 1000 population have been reported during the 1970s, along with
more than six cases of anencephaly (both live births and stillbirths) per 1000 population. The
reported overall incidence of myelomeningocele in the British Isles was 2.03.5 cases per 1000
births.
[49][50]
Since then, the rate has fallen dramatically with 0.15 per 1000 live births reported in
1998,
[34]
though this decline is partially accounted for because some fetuses are aborted when
tests show signs of spina bifida (see Pregnancy screening above).
Parents of children with spina bifida have an increased risk of having a second child with a
neural tube defect.
[49][50]

Fetal surgery research[edit]
1980 - Fetal surgical techniques using animal models were first developed at the
University of California, San Francisco by Michael R. Harrison, N. Scott Adzick and
research colleagues.
1994 - A surgical model that simulates the human disease is the fetal lamb model of
myelomeningocele (MMC) introduced by Meuli and Adzick in 1994. The MMC-like
defect was surgically created at 75 days of gestation (term 145 to 150 days) by a lumbo-
sacral laminectomy. Approximately 3 weeks after creation of the defect a reversed
latissimus dorsi flap was used to cover the exposed neural placode and the animals were
delivered by cesarean section just prior term. Human MMC-like lesions with similar
neurological deficit were found in the control newborn lambs. In contrast, animals that
underwent closure had near-normal neurological function and well-preserved
cytoarchitecture of the covered spinal cord on histopathological examination. Despite
mild paraparesis, they were able to stand, walk, perform demanding motor test and
demonstrated no signs of incontinence. Furthermore, sensory function of the hind limbs
was present clinically and confirmed electrophysiologically. Further studies showed that
this model, when combined with a lumbar spinal cord myelotomy leads to the hindbrain
herniation characteristic of the Chiari II malformation and that in utero surgery restores
normal hindbrain anatomy by stopping the leak of cerebrospinal fluid through the
myelomeningocele lesion.
[52][53][54][55]

Surgeons at Vanderbilt University, led by Joseph Bruner, attempted to close spina bifida in 4
human fetuses using a skin graft from the mother using a laparoscope. Four cases were
performed before stopping the procedure - two of the four fetuses died.
[56]

1998 - N. Scott Adzick and team at The Children's Hospital of Philadelphia performed
open fetal surgery for spina bifida in an early gestation fetus (22 week gestation fetus)
with a successful outcome.
[57]
Open fetal surgery for myelomeningocele involves
surgically opening the pregnant mother's abdomen and uterus to operate on the fetus. The
exposed fetal spinal cord is covered in layers with surrounding fetal tissue at mid-
gestation (1925 weeks) to protect it from further damage caused by prolonged exposure
to amniotic fluid. Between 1998 and 2003, Dr. Adzick, and his colleagues in the Center
for Fetal Diagnosis and Treatment a The Children's Hospital Of Philadelphia, performed
prenatal spina bifida repair in 58 mothers and observed significant benefit in the babies.
Surgeons at Vanderbilt University, led by Noel Tulipan, performed open fetal surgery at 28 to 30
weeks' gestation. All 4 fetuses were born premature but with evidence of reversal of their Chiari
II malformation. Only 2 of the 4 required ventricular shunts after birth. Fetal surgery after 25
weeks has not shown benefit in subsequent studies.
[58]

Subsequently, 4 medical centers conducted 253 open spina bifida repairs prior to the
Management of Myelomeningocele Study (MOMS) trial. The outcomes were mixed, and the
only comparison groups were other children who had not undergone repair after birth in the past.
To conclusively answer this question, the MOMS trial was launched in 2003 to determine the
safety and efficacy of fetal surgery to close a myelomeningocele.