Spina bifida
Encyclopedia
Spina bifida is a developmental congenital disorder
caused by the incomplete closing of the embryo
nic 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 which 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 (myelomeningocele), and meningocele. The most common location of the malformations is the lumbar
and sacral
areas. Myelomeningocele is the most significant form and it is this that 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 is currently being investigated. The incidence of spina bifida can be decreased by up to 70% when daily folic acid
supplements are taken prior to conception.
for "hidden". This is the mildest forms of spina bifida.
In occulta, the outer part of some of the vertebrae are not completely closed. The split in the vertebrae is 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
.
Many people with the mildest form of this type of spina bifida do not even know they have it, as the condition is asymptomatic in most cases. The incidence of spina bifida occulta is approximately 10% of the population, 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. More recent studies not included in the review support the negative findings.
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.
In a posterior meningocele, the vertebrae develop normally, however 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 there are reports of tethered cord
.
Causes of meningocele include teratoma
and other tumor
s of the sacrococcyx
and of the presacral space
, and Currarino syndrome
, Bony defect with outpouching of meninges.
A meningocele may also form through dehiscences in the base of 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.
The protruded portion of the spinal cord and the nerves which 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 higher the level of the defect, the more severe the associated nerve dysfunction and resultant paralysis. People may have ambulatory problems, loss of sensation, deformities of the hips, knees or feet and loss of muscle tone. Depending on the location of the lesion, intense pain may occur originating in the lower back, and continuing down the leg to the back of the knee.
According to the Spina Bifida Association of America (SBAA), over 73 percent of people with spina bifida develop an allergy
to latex
, 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, condoms, catheters, and many of the products used by dentists.
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.
, 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 approximately 90 percent of the people with myelomeningocele, hydrocephalus
will also occur because the displaced cerebellum interferes with the normal flow of cerebrospinal fluid
, causing an excess of the fluid to accumulate. In fact, the cerebellum also tends to be smaller in individuals with spina bifida, especially for those with higher lesion levels.
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. 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.
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. Neurons within the cortex may also be displaced.
in youth with spina bifida, with greater deficits observed in youth with shunted hydrocephalus. Unlike typically developing children, youth with spina bifida do not tend to improve in their executive functioning as they grow older. Specific areas of difficulty in some individuals include planning, organizing, initiating, and working memory
. Problem-solving, abstraction
, and visual planning may also be impaired. Further, children with spina bifida may have poor cognitive flexibility
. Although executive functions are often attributed to the frontal lobe
s of the brain, individuals with spina bifida have intact frontal lobes; therefore, other areas of the brain may be implicated.
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%). Deficits have been observed for selective attention and focused attention, although poor motor speed may contribute to poor scores on tests of attention. Attention deficits may be evident at a very early age, as infant
s with spina bifida lag behind their peers in orienting to faces.
and reading
. In one study, 60% of children with spina bifida were diagnosed with a learning disability. In addition to brain abnormalities directly related to various academic skills, achievement is likely affected by impaired attentional control and executive functioning. 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
. 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. 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. Working memory
and inhibitory control deficiencies have been implicated for math difficulties, although visual-spatial difficulties are not likely involved. Early intervention to address mathematics difficulties and associated executive functions is crucial.
Individuals with spina bifida tend to have better reading skills than mathematics skills. Children and adults with spina bifida have stronger abilities in reading accuracy compared to reading comprehension. Comprehension may be especially impaired for text that requires an abstract synthesis of information rather than a more literal understanding. Individuals with spina bifida may have difficulty with writing due to deficits in fine motor control and working memory.
to close during the first month of embryo
nic development (often before the mother knows she is pregnant).
Normally the closure of the neural tube occurs around the 23rd (rostral closure) and 27th (caudal closure) day after fertilization. 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 conception of a baby with a spina bifida. However, most women who give birth to babies with spina bifida have none of these risk factors, and so in spite of much research, it is still unknown what causes the majority of cases.
Extensive evidence from mouse strains with spina bifida indicates that there is sometimes a genetic basis for the condition. In human spina bifida, as with other human diseases such as cancer
, hypertension
and atherosclerosis
(coronary artery disease), spina bifida likely results from the interaction of multiple gene
s and environmental factors.
Research has shown that 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 percent, and can also decrease the severity of these defects when they occur. 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 that a woman who has had one child with a neural tube defect such as spina bifida, has about a three percent risk of having another child with a neural tube defect. This risk can be reduced to about one percent 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).
s, fortified breakfast cereal
s, dried bean
s, leaf vegetable
s and fruit
s.
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
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.
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 4–5 mg/day.
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.
. 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
). Spina bifida may be associated with other malformations as in dysmorphic syndromes, often resulting in spontaneous miscarriage
. However, in the majority of cases 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.
. 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 fetal surgery
can be performed.
Most individuals with myelomeningocele will need periodic evaluations by a variety of specialists :
Such care is best begun immediately after birth.
(MOMS) is a phase III clinical trial
to evaluate the safety and efficacy of fetal surgery
to close a myelomeningocele. This involves surgically opening the pregnant mother's abdomen and uterus
to operate on the fetus
. This route of access to the fetus is called "open fetal surgery". Fetal skin grafts are used to cover the exposed spinal cord, to protect it from further damage caused by prolonged exposure to amniotic fluid. The fetal surgery may decrease some of the damaging effects of the spina bifida, but at some risk to both the fetus and the pregnant woman.
The MOMS trial was closed for efficacy in December 2010 based on comparing outcomes after prenatal and postnatal repair in 183 patients.
The trial demonstrated that outcomes after prenatal spina bifida treatment are improved to the degree that the benefits of the surgery outweigh the maternal risks. Results were reported in the New England Journal of Medicine by Adzick et al.
Specifically, the study found that prenatal repair resulted in:
In contrast to the open fetal operative approach tested in the MOMS, a minimally invasive approach is currently being tested by the German Center for Fetal Surgery & Minimally Invasive Therapy at the University of Giessen, Germany. This minimally invasive approach uses three small tubes (trocars) with an external diameter of 5 mm that are directly placed via small needle punctures through the maternal abdominal wall into the uterine cavity. Via this route, the unborn can be postured and its spina bifida defect be closed using small instruments. In contrast to open fetal surgery for spina bifida, the fetoscopic approach results in less trauma to the mother as large incisions of her abdomen and uterus are not required. Early results indicate that the approach may maintain the fetal muscular and sensory function that is still present at the time of fetal surgery, regardless of lesion height.
Although fetoscopic techniques that involve making multiple puncture wounds in the uterus are theoretically appealing to potentially mitigate maternal morbidity, clinical reports on their use are limited and the results have been disappointing, primarily because of uterine membrane problems leading to premature birth 3 to 6 weeks after the procedure and delivery before 30 weeks of gestation. As compared with the open fetal surgery technique, fetoscopic repair of myelomeningocele has resulted in higher rates of fetal death, premature rupture of membranes, chorioamnionitis, oligohydramnios, premature delivery, and persistent hindbrain herniation. If the problems of membrane rupture associated with fetoscopy can be solved, this minimally invasive approach to repairing myelomeningocele before birth should be tested clinically.
of 1–2 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 whites (1 case per 1000 live births) than in blacks (0.1–0.4 case per 1000 live births). Immigrants from Ireland have a higher incidence of spina bifida than do nonimmigrants.
The highest incidence rates worldwide were found in Ireland and Wales, where 3–4 cases of myelomeningocele per 1000 population have been reported during the 1970s, along with more than six cases of anencephaly
(both live births and stillbirth
s) per 1000 population. The reported overall incidence of myelomeningocele in the British Isles was 2–3.5 cases per 1000 births. Since then, the rate has fallen dramatically with 0.15 per 1000 live births reported in 1998, though this decline is partially accounted for by the fact that 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.
This condition is more likely to appear in females; the cause for this is unknown.
, winner of the Academy Award for Best Live Action Short Film
in 1977.
The principal character in Stronger than Superman, an award winning theatre play by Roy Kift for audiences of 14 years and upwards, is a teenage boy with spina bifida. It premiered at the GRIPS Theater in Berlin in 1981 and has been performed all over the world, including Iceland, India and China. The play is a comedy with songs, whose humour derives from the reactions of the outside world to handicapped persons. It is published by Amber Lane Press in GB.
, Derek Shepherd and Meredith Grey attempt to adopt an African orphan, Zola, diagnosed with Spina Bifida.
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
caused by the incomplete closing of the embryo
Embryo
An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination...
nic neural tube
Neural tube
In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord...
. Some vertebrae overlying the spinal cord
Spinal cord
The spinal cord is a long, thin, tubular bundle of nervous tissue and support cells that extends from the brain . The brain and spinal cord together make up the central nervous system...
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
Anencephaly
Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp...
, a condition in which the portion of the neural tube which will become the cerebrum does not close, and encephalocele
Encephalocele
Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal...
, which results when other parts of the brain remain unfused.
Spina bifida malformations fall into three categories: spina bifida occulta, spina bifida cystica (myelomeningocele), and meningocele. The most common location of the malformations is the lumbar
Lumbar
In tetrapod anatomy, lumbar is an adjective that means of or pertaining to the abdominal segment of the torso, between the diaphragm and the sacrum ...
and sacral
Sacrum
In vertebrate anatomy the sacrum is a large, triangular bone at the base of the spine and at the upper and back part of the pelvic cavity, where it is inserted like a wedge between the two hip bones. Its upper part connects with the last lumbar vertebra, and bottom part with the coccyx...
areas. Myelomeningocele is the most significant form and it is this that 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
Fetal surgery
Fetal surgery is any of a broad range of surgical techniques that are used to treat birth defects in fetuses who are still in the pregnant uterus.* Open fetal surgery involves completely opening the uterus to operate on the fetus....
for spina bifida has also been performed and the safety and efficacy of this procedure is currently being investigated. The incidence of spina bifida can be decreased by up to 70% when daily folic acid
Folic acid
Folic acid and folate , as well as pteroyl-L-glutamic acid, pteroyl-L-glutamate, and pteroylmonoglutamic acid are forms of the water-soluble vitamin B9...
supplements are taken prior to conception.
Spina bifida occulta
Occulta is LatinLatin
Latin is an Italic language originally spoken in Latium and Ancient Rome. It, along with most European languages, is a descendant of the ancient Proto-Indo-European language. Although it is considered a dead language, a number of scholars and members of the Christian clergy speak it fluently, and...
for "hidden". This is the mildest forms of spina bifida.
In occulta, the outer part of some of the vertebrae are not completely closed. The split in the vertebrae is so small that the spinal cord does not protrude. The skin at the site of the lesion
Lesion
A lesion is any abnormality in the tissue of an organism , usually caused by disease or trauma. Lesion is derived from the Latin word laesio which means injury.- Types :...
may be normal, or it may have some hair growing from it; there may be a dimple in the skin, or a birthmark
Birthmark
A birthmark is a benign irregularity on the skin which is present at birth or appears shortly after birth, usually in the first month. They can occur anywhere on the skin. Birthmarks are caused by overgrowth of blood vessels, melanocytes, smooth muscle, fat, fibroblasts, or...
.
Many people with the mildest form of this type of spina bifida do not even know they have it, as the condition is asymptomatic in most cases. The incidence of spina bifida occulta is approximately 10% of the population, and most people are diagnosed incidentally from spinal X-rays.
A systematic review of radiographic
Radiography
Radiography is the use of X-rays to view a non-uniformly composed material such as the human body. By using the physical properties of the ray an image can be developed which displays areas of different density and composition....
research studies found no relationship between spina bifida occulta and back pain. More recent studies not included in the review support the negative findings.
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.
Meningocele
The least common form of spina bifida is a posterior meningocele (or meningeal cyst).In a posterior meningocele, the vertebrae develop normally, however 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 there are reports of tethered cord
Tethered spinal cord syndrome
Tethered spinal cord syndrome or occult spinal dysraphism sequence refers to a group of neurological disorders related to malformations of the spinal cord. The various forms include: tight filum terminale, lipomeningomyelocele, split cord malformations, dermal sinus tracts, dermoids, and cystoceles...
.
Causes of meningocele include teratoma
Teratoma
A teratoma is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. There are rare occasions when not all three germ layers are identifiable...
and other tumor
Tumor
A tumor or tumour is commonly used as a synonym for a neoplasm that appears enlarged in size. Tumor is not synonymous with cancer...
s of the sacrococcyx
Sacrococcygeal teratoma
Sacrococcygeal teratoma is a teratoma located at the base of the coccyx . It is thought to be a derivative of the primitive streak.-Natural history:...
and of the presacral space
Presacral space
In human anatomy, the presacral space is inside the pelvis, behind the rectum and in front of the coccyx and sacrum. Normally it is empty, or it contains a pocket of fat.It is usually covered by sigmoid colon.-Clinical significance:...
, and Currarino syndrome
Currarino syndrome
The Currarino syndrome is an inherited congenital disorder where the sacrum is not formed properly, there is a mass in the presacral space in front of the sacrum, and there are malformations of the anus or rectum...
, Bony defect with outpouching of meninges.
A meningocele may also form through dehiscences in the base of skull. These may be classified by their localisation to occipital, frontoethmoidal, or nasal. Endonasal meningoceles lie at the roof of the nasal cavity
Nasal cavity
The nasal cavity is a large air filled space above and behind the nose in the middle of the face.- Function :The nasal cavity conditions the air to be received by the other areas of the respiratory tract...
and may be mistaken for a nasal polyp
Nasal polyp
Nasal polyps are polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are overgrowths of the mucosa that frequently accompany allergic rhinitis. They are freely movable and nontender.-Description:...
. They are treated surgically. Encephalomeningoceles are classified in the same way and also contain brain tissue.
Myelomeningocele
This type of spina bifida is the most common and often results in the most severe complications. 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. 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.The protruded portion of the spinal cord and the nerves which originate at that level of the cord are damaged or not properly developed. As a result, there is usually some degree of paralysis
Paralysis
Paralysis is loss of muscle function for one or more muscles. Paralysis can be accompanied by a loss of feeling in the affected area if there is sensory damage as well as motor. A study conducted by the Christopher & Dana Reeve Foundation, suggests that about 1 in 50 people have been diagnosed...
and loss of sensation below the level of the spinal cord defect. Thus, the higher the level of the defect, the more severe the associated nerve dysfunction and resultant paralysis. People may have ambulatory problems, loss of sensation, deformities of the hips, knees or feet and loss of muscle tone. Depending on the location of the lesion, intense pain may occur originating in the lower back, and continuing down the leg to the back of the knee.
Physical Complications
Physical signs of spina bifida may include:- Leg weakness and paralysis
- Orthopedic abnormalities (i.e., club footClub footA club foot, or congenital talipes equinovarus , is a congenital deformity involving one foot or both. The affected foot appears rotated internally at the ankle. TEV is classified into 2 groups: Postural TEV or Structural TEV....
, hip dislocation, scoliosisScoliosisScoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual with scoliosis may look more like an "S" or a "C" than a straight line...
) - Bladder and bowel control problems, including incontinence, urinary tract infections, and poor renal function
- Latex allergy
- Pressure soresBedsoreBedsores, more properly known as pressure ulcers or decubitus ulcers, are lesions caused by many factors—such as unrelieved pressure, friction, humidity, shearing forces, temperature, age, continence, and medication—to any part of the body, especially portions over bony or cartilaginous areas such...
and skin irritations - Abnormal eye movement
According to the Spina Bifida Association of America (SBAA), over 73 percent of people with spina bifida develop an allergy
Allergy
An Allergy is a hypersensitivity disorder of the immune system. Allergic reactions occur when a person's immune system reacts to normally harmless substances in the environment. A substance that causes a reaction is called an allergen. These reactions are acquired, predictable, and rapid...
to latex
Latex
Latex is the stable dispersion of polymer microparticles in an aqueous medium. Latexes may be natural or synthetic.Latex as found in nature is a milky fluid found in 10% of all flowering plants . It is a complex emulsion consisting of proteins, alkaloids, starches, sugars, oils, tannins, resins,...
, 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, condoms, catheters, and many of the products used by dentists.
The spinal cord lesion or the scarring due to surgery may result in a tethered spinal cord
Tethered spinal cord syndrome
Tethered spinal cord syndrome or occult spinal dysraphism sequence refers to a group of neurological disorders related to malformations of the spinal cord. The various forms include: tight filum terminale, lipomeningomyelocele, split cord malformations, dermal sinus tracts, dermoids, and cystoceles...
. In some individuals, this causes significant traction and stress on the spinal cord and can lead to a worsening of associated paralysis, scoliosis
Scoliosis
Scoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual with scoliosis may look more like an "S" or a "C" than a straight line...
, back pain, and worsening bowel and/or bladder function.
Neurological Complications
Many individuals with spina bifida will have an associated abnormality of the cerebellumCerebellum
The cerebellum is a region of the brain that plays an important role in motor control. It may also be involved in some cognitive functions such as attention and language, and in regulating fear and pleasure responses, but its movement-related functions are the most solidly established...
, 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 approximately 90 percent of the people with myelomeningocele, hydrocephalus
Hydrocephalus
Hydrocephalus , also known as "water in the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head,...
will also occur because the displaced cerebellum interferes with the normal flow of cerebrospinal fluid
Cerebrospinal fluid
Cerebrospinal fluid , Liquor cerebrospinalis, is a clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord...
, causing an excess of the fluid to accumulate. In fact, the cerebellum also tends to be smaller in individuals with spina bifida, especially for those with higher lesion levels.
The corpus callosum
Corpus callosum
The corpus callosum , also known as the colossal commissure, is a wide, flat bundle of neural fibers beneath the cortex in the eutherian brain at the longitudinal fissure. It connects the left and right cerebral hemispheres and facilitates interhemispheric communication...
is abnormally developed in 70-90% of individuals with spina bifida myelomeningocele; this impacts the communication processes between the left and right brain hemispheres. Further, white matter
White matter
White matter is one of the two components of the central nervous system and consists mostly of myelinated axons. White matter tissue of the freshly cut brain appears pinkish white to the naked eye because myelin is composed largely of lipid tissue veined with capillaries. Its white color is due to...
tracts connecting posterior brain regions with anterior regions appear less-organized. White matter tracts between frontal regions have also been found to be impaired.
Cortex
Cerebral cortex
The cerebral cortex is a sheet of neural tissue that is outermost to the cerebrum of the mammalian brain. It plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It is constituted of up to six horizontal layers, each of which has a different...
abnormalities may also be present. For example, frontal regions
Frontal lobe
The frontal lobe is an area in the brain of humans and other mammals, located at the front of each cerebral hemisphere and positioned anterior to the parietal lobe and superior and anterior to the temporal lobes...
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. Neurons within the cortex may also be displaced.
Executive Function
Several studies have demonstrated difficulties with executive functionsExecutive functions
The executive system is a theorized cognitive system in psychology that controls and manages other cognitive processes. It is responsible for processes that are sometimes referred to as the executive function, executive functions, supervisory attentional system, or cognitive control...
in youth with spina bifida, with greater deficits observed in youth with shunted hydrocephalus. Unlike typically developing children, youth with spina bifida do not tend to improve in their executive functioning as they grow older. Specific areas of difficulty in some individuals include planning, organizing, initiating, and working memory
Working memory
Working memory has been defined as the system which actively holds information in the mind to do verbal and nonverbal tasks such as reasoning and comprehension, and to make it available for further information processing...
. Problem-solving, abstraction
Abstraction
Abstraction is a process by which higher concepts are derived from the usage and classification of literal concepts, first principles, or other methods....
, and visual planning may also be impaired. Further, children with spina bifida may have poor cognitive flexibility
Cognitive flexibility
Cognitive flexibility is the term used to describe one of the executive functions; a function which is an important component of human behavior; the ability to switch behavioral response according to the context of the situation...
. Although executive functions are often attributed to the frontal lobe
Frontal lobe
The frontal lobe is an area in the brain of humans and other mammals, located at the front of each cerebral hemisphere and positioned anterior to the parietal lobe and superior and anterior to the temporal lobes...
s of the brain, individuals with spina bifida have intact frontal lobes; therefore, other areas of the brain may be implicated.
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%). Deficits have been observed for selective attention and focused attention, although poor motor speed may contribute to poor scores on tests of attention. Attention deficits may be evident at a very early age, as infant
Infant
A newborn or baby is the very young offspring of a human or other mammal. A newborn is an infant who is within hours, days, or up to a few weeks from birth. In medical contexts, newborn or neonate refers to an infant in the first 28 days after birth...
s with spina bifida lag behind their peers in orienting to faces.
Academic Skills
Individuals with spina bifida may struggle academically, especially in the subjects of mathematicsMathematics
Mathematics is the study of quantity, space, structure, and change. Mathematicians seek out patterns and formulate new conjectures. Mathematicians resolve the truth or falsity of conjectures by mathematical proofs, which are arguments sufficient to convince other mathematicians of their validity...
and reading
Reading (process)
Reading is a complex cognitive process of decoding symbols for the intention of constructing or deriving meaning . It is a means of language acquisition, of communication, and of sharing information and ideas...
. In one study, 60% of children with spina bifida were diagnosed with a learning disability. In addition to brain abnormalities directly related to various academic skills, achievement is likely affected by impaired attentional control and executive functioning. 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
Dyscalculia
Dyscalculia is a specific learning disability involving innate difficulty in learning or comprehending simple arithmetic. It is akin to dyslexia and includes difficulty in understanding numbers, learning how to manipulate numbers, learning maths facts, and a number of other related symptoms...
. 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. Mathematics difficulties may be directly related to the thinning of the parietal lobes
Parietal lobe
The parietal lobe is a part of the Brain positioned above the occipital lobe and behind the frontal lobe.The parietal lobe integrates sensory information from different modalities, particularly determining spatial sense and navigation. For example, it comprises somatosensory cortex and the...
(regions implicated in mathematical functioning) and indirectly associated with deformities of the cerebellum
Cerebellum
The cerebellum is a region of the brain that plays an important role in motor control. It may also be involved in some cognitive functions such as attention and language, and in regulating fear and pleasure responses, but its movement-related functions are the most solidly established...
and midbrain that affect other functions involved in mathematical skills. Further, higher numbers of shunt revisions are associated with poorer mathematics abilities. Working memory
Working memory
Working memory has been defined as the system which actively holds information in the mind to do verbal and nonverbal tasks such as reasoning and comprehension, and to make it available for further information processing...
and inhibitory control deficiencies have been implicated for math difficulties, although visual-spatial difficulties are not likely involved. Early intervention to address mathematics difficulties and associated executive functions is crucial.
Individuals with spina bifida tend to have better reading skills than mathematics skills. Children and adults with spina bifida have stronger abilities in reading accuracy compared to reading comprehension. Comprehension may be especially impaired for text that requires an abstract synthesis of information rather than a more literal understanding. Individuals with spina bifida may have difficulty with writing due to deficits in fine motor control and working memory.
Social Complications
Compared to typically developing children, youth with spina bifida may have fewer friends and spend less time with peers. They may be more socially immature and more passive in social situations. Children with spina bifida have also reported feeling less close to their friends and feel they do not receive as much emotional support from their friendships. Many social difficulties tend to be stable, lasting into adulthood. Youth who encounter the most social difficulties tend to have lower executive functioning and shunted hydrocephalus. However, not all studies have found social difficulties in these youth compared with their typically developing peers.Pathophysiology
Spina bifida is caused by the failure of the neural tubeNeural tube
In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord...
to close during the first month of embryo
Embryo
An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination...
nic development (often before the mother knows she is pregnant).
Normally the closure of the neural tube occurs around the 23rd (rostral closure) and 27th (caudal closure) day after fertilization. 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
Obesity
Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health, leading to reduced life expectancy and/or increased health problems...
, and an increased body temperature from fever
Fever
Fever is a common medical sign characterized by an elevation of temperature above the normal range of due to an increase in the body temperature regulatory set-point. This increase in set-point triggers increased muscle tone and shivering.As a person's temperature increases, there is, in...
or external sources such as hot tubs and electric blankets may increase the chances of conception of a baby with a spina bifida. However, most women who give birth to babies with spina bifida have none of these risk factors, and so in spite of much research, it is still unknown what causes the majority of cases.
Extensive evidence from mouse strains with spina bifida indicates that there is sometimes a genetic basis for the condition. In human spina bifida, as with other human diseases such as cancer
Cancer
Cancer , known medically as a malignant neoplasm, is a large group of different diseases, all involving unregulated cell growth. In cancer, cells divide and grow uncontrollably, forming malignant tumors, and invade nearby parts of the body. The cancer may also spread to more distant parts of the...
, hypertension
Hypertension
Hypertension or high blood pressure is a cardiac chronic medical condition in which the systemic arterial blood pressure is elevated. What that means is that the heart is having to work harder than it should to pump the blood around the body. Blood pressure involves two measurements, systolic and...
and atherosclerosis
Atherosclerosis
Atherosclerosis is a condition in which an artery wall thickens as a result of the accumulation of fatty materials such as cholesterol...
(coronary artery disease), spina bifida likely results from the interaction of multiple gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s and environmental factors.
Research has shown that lack of folic acid
Folic acid
Folic acid and folate , as well as pteroyl-L-glutamic acid, pteroyl-L-glutamate, and pteroylmonoglutamic acid are forms of the water-soluble vitamin B9...
(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 percent, and can also decrease the severity of these defects when they occur. It is unknown how or why folic acid has this effect.
Spina bifida does not follow direct patterns of heredity
Heredity
Heredity is the passing of traits to offspring . This is the process by which an offspring cell or organism acquires or becomes predisposed to the characteristics of its parent cell or organism. Through heredity, variations exhibited by individuals can accumulate and cause some species to evolve...
like muscular dystrophy
Muscular dystrophy
Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.In the 1860s, descriptions of boys who...
or haemophilia
Haemophilia
Haemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. Haemophilia A is the most common form of the disorder, present in about 1 in 5,000–10,000 male births...
. Studies show that a woman who has had one child with a neural tube defect such as spina bifida, has about a three percent risk of having another child with a neural tube defect. This risk can be reduced to about one percent 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).
Prevention
There is no 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 preventing spina bifida (see above). Sources of folic acid include whole grainWhole grain
Whole grains are cereal grains that contain cereal germ, endosperm, and bran, in contrast to refined grains, which retain only the endosperm. Whole grains can generally be sprouted while refined grains generally will not sprout. Whole-meal products are made by grinding whole grains in order to make...
s, fortified breakfast cereal
Breakfast cereal
A breakfast cereal is a food made from processed grains that is often, but not always, eaten with the first meal of the day. It is often eaten cold, usually mixed with milk , water, or yogurt, and sometimes fruit but sometimes eaten dry. Some cereals, such as oatmeal, may be served hot as porridge...
s, dried bean
Bean
Bean is a common name for large plant seeds of several genera of the family Fabaceae used for human food or animal feed....
s, leaf vegetable
Leaf vegetable
Leaf vegetables, also called potherbs, green vegetables, greens, leafy greens or salad greens, are plant leaves eaten as a vegetable, sometimes accompanied by tender petioles and shoots...
s and fruit
Fruit
In broad terms, a fruit is a structure of a plant that contains its seeds.The term has different meanings dependent on context. In non-technical usage, such as food preparation, fruit normally means the fleshy seed-associated structures of certain plants that are sweet and edible in the raw state,...
s.
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
Public Health Agency of Canada
The Public Health Agency of Canada is an agency of the Government of Canada that is responsible for public health, emergency preparedness, and response and infectious and chronic disease control and prevention...
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.
Women who have already had a baby with spina bifida or other type of neural tube defect, or are taking anticonvulsant
Anticonvulsant
The anticonvulsants are a diverse group of pharmaceuticals used in the treatment of epileptic seizures. Anticonvulsants are also increasingly being used in the treatment of bipolar disorder, since many seem to act as mood stabilizers, and in the treatment of neuropathic pain. The goal of an...
medication should take a higher dose of 4–5 mg/day.
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.
Pregnancy screening
Neural tube defects can usually be detected during pregnancy by testing the mother's blood (AFP screening) or a detailed fetal ultrasoundUltrasound
Ultrasound is cyclic sound pressure with a frequency greater than the upper limit of human hearing. Ultrasound is thus not separated from "normal" sound based on differences in physical properties, only the fact that humans cannot hear it. Although this limit varies from person to person, it is...
. Increased levels of maternal serum alpha-fetoprotein (MSAFP) should be followed up by two tests - an ultrasound
Ultrasound
Ultrasound is cyclic sound pressure with a frequency greater than the upper limit of human hearing. Ultrasound is thus not separated from "normal" sound based on differences in physical properties, only the fact that humans cannot hear it. Although this limit varies from person to person, it is...
of the fetal spine and amniocentesis
Amniocentesis
Amniocentesis is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA is examined for...
of the mother's amniotic fluid (to test for alpha-fetoprotein
Alpha-fetoprotein
Alpha-fetoprotein is a protein that in humans is encoded by the AFP gene....
and acetylcholinesterase
Acetylcholinesterase
"Acetylcholinesterase, also known as AChE or acetylcholine acetylhydrolase, is an enzyme that degrades the neurotransmitter acetylcholine, producing choline and an acetate group. It is mainly found at neuromuscular junctions and cholinergic nervous system, where its activity serves to terminate...
). Spina bifida may be associated with other malformations as in dysmorphic syndromes, often resulting in spontaneous miscarriage
Miscarriage
Miscarriage or spontaneous abortion is the spontaneous end of a pregnancy at a stage where the embryo or fetus is incapable of surviving independently, generally defined in humans at prior to 20 weeks of gestation...
. However, in the majority of cases spina bifida is an isolated malformation.
Genetic counseling
Genetic counseling
Genetic counseling or traveling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning...
and further genetic testing
Genetic testing
Genetic testing is among the newest and most sophisticated of techniques used to test for genetic disorders which involves direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic...
, such as amniocentesis
Amniocentesis
Amniocentesis is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA is examined for...
, 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
Abortion
Abortion is defined as the termination of pregnancy by the removal or expulsion from the uterus of a fetus or embryo prior to viability. An abortion can occur spontaneously, in which case it is usually called a miscarriage, or it can be purposely induced...
out of fear that a newborn might have a poor future quality of life
Quality of life
The term quality of life is used to evaluate the general well-being of individuals and societies. The term is used in a wide range of contexts, including the fields of international development, healthcare, and politics. Quality of life should not be confused with the concept of standard of...
. With modern medical care, the quality of life of patients has greatly improved.
Treatment
There is no known cure for nerve damage due to 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 meningesMeninges
The meninges is the system of membranes which envelopes the central nervous system. The meninges consist of three layers: the dura mater, the arachnoid mater, and the pia mater. The primary function of the meninges and of the cerebrospinal fluid is to protect the central nervous system.-Dura...
. In addition, a shunt
Shunt (medical)
In medicine, a shunt is a hole or a small passage which moves, or allows movement of fluid from one part of the body to another. The term may describe either congenital or acquired shunts; and acquired shunts may be either biological or mechanical.* Cardiac shunts may be described as...
may be surgically installed to provide a continuous drain for the excess cerebrospinal fluid produced in the brain, as happens with hydrocephalus
Hydrocephalus
Hydrocephalus , also known as "water in the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head,...
. Shunts most commonly drain into the abdomen
Abdomen
In vertebrates such as mammals the abdomen constitutes the part of the body between the thorax and pelvis. The region enclosed by the abdomen is termed the abdominal cavity...
or chest wall. However, if spina bifida is detected during pregnancy, then open fetal surgery
Fetal surgery
Fetal surgery is any of a broad range of surgical techniques that are used to treat birth defects in fetuses who are still in the pregnant uterus.* Open fetal surgery involves completely opening the uterus to operate on the fetus....
can be performed.
Most individuals with myelomeningocele will need periodic evaluations by a variety of specialists :
- Orthopedists to monitor growth and development of bones, muscles, and joints
- Neurosurgeons to perform surgeries at birth and manage complications associated with tethered cord and hydrocephalus
- Neurologists to 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 system with a program of catheterization. Bowel management programs aimed at improving elimination are also designed.
- Opthamologists to evaluate and treat complications of the eyes.
- Orthotists to design and customize various types of assistive technology, including braces, crutchers, 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 while those with higher levels do best with a wheelchair, and some may be able to walk unaided.
- Physical therapists, occupational therapists, and speech/language pathologists to aid in rehabilitative therapies and increase independent living skills.
Such care is best begun immediately after birth.
Fetal surgery clinical trials
Management of Myelomeningocele StudyMOMS Trial
The MOMS Trial is a Eunice Kennedy Shriver National Institute of Child Health andHuman Development sponsored study of prenatal and postnatal closure of myelomeningocele; a collaboration of The Children's Hospital of Philadelphia, the University of California at San Francisco, Vanderbilt University...
(MOMS) is a phase III clinical trial
Clinical trial
Clinical trials are a set of procedures in medical research and drug development that are conducted to allow safety and efficacy data to be collected for health interventions...
to evaluate the safety and efficacy of fetal surgery
Fetal surgery
Fetal surgery is any of a broad range of surgical techniques that are used to treat birth defects in fetuses who are still in the pregnant uterus.* Open fetal surgery involves completely opening the uterus to operate on the fetus....
to close a myelomeningocele. This involves surgically opening the pregnant mother's abdomen and uterus
Uterus
The uterus or womb is a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species...
to operate on the fetus
Fetus
A fetus is a developing mammal or other viviparous vertebrate after the embryonic stage and before birth.In humans, the fetal stage of prenatal development starts at the beginning of the 11th week in gestational age, which is the 9th week after fertilization.-Etymology and spelling variations:The...
. This route of access to the fetus is called "open fetal surgery". Fetal skin grafts are used to cover the exposed spinal cord, to protect it from further damage caused by prolonged exposure to amniotic fluid. The fetal surgery may decrease some of the damaging effects of the spina bifida, but at some risk to both the fetus and the pregnant woman.
The MOMS trial was closed for efficacy in December 2010 based on comparing outcomes after prenatal and postnatal repair in 183 patients.
The trial demonstrated that outcomes after prenatal spina bifida treatment are improved to the degree that the benefits of the surgery outweigh the maternal risks. Results were reported in the New England Journal of Medicine by Adzick et al.
Specifically, the study found that prenatal repair resulted in:
- Reversal of the hindbrain herniation component of the Chiari II malformation
- Reduced need for ventricular shunting (a procedure in which a thin tube is introduced into the brain’s ventricles to drain fluid and relieve hydrocephalus)
- Reduced incidence or severity of potentially devastating neurologic effects caused by the spine’s exposure to amniotic fluid, such as impaired motor function
In contrast to the open fetal operative approach tested in the MOMS, a minimally invasive approach is currently being tested by the German Center for Fetal Surgery & Minimally Invasive Therapy at the University of Giessen, Germany. This minimally invasive approach uses three small tubes (trocars) with an external diameter of 5 mm that are directly placed via small needle punctures through the maternal abdominal wall into the uterine cavity. Via this route, the unborn can be postured and its spina bifida defect be closed using small instruments. In contrast to open fetal surgery for spina bifida, the fetoscopic approach results in less trauma to the mother as large incisions of her abdomen and uterus are not required. Early results indicate that the approach may maintain the fetal muscular and sensory function that is still present at the time of fetal surgery, regardless of lesion height.
Although fetoscopic techniques that involve making multiple puncture wounds in the uterus are theoretically appealing to potentially mitigate maternal morbidity, clinical reports on their use are limited and the results have been disappointing, primarily because of uterine membrane problems leading to premature birth 3 to 6 weeks after the procedure and delivery before 30 weeks of gestation. As compared with the open fetal surgery technique, fetoscopic repair of myelomeningocele has resulted in higher rates of fetal death, premature rupture of membranes, chorioamnionitis, oligohydramnios, premature delivery, and persistent hindbrain herniation. If the problems of membrane rupture associated with fetoscopy can be solved, this minimally invasive approach to repairing myelomeningocele before birth should be tested clinically.
Epidemiology
Spina bifida is one of the most common birth defects, with an average worldwide incidenceIncidence (epidemiology)
Incidence is a measure of the risk of developing some new condition within a specified period of time. Although sometimes loosely expressed simply as the number of new cases during some time period, it is better expressed as a proportion or a rate with a denominator.Incidence proportion is the...
of 1–2 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 whites (1 case per 1000 live births) than in blacks (0.1–0.4 case per 1000 live births). Immigrants from Ireland have a higher incidence of spina bifida than do nonimmigrants.
The highest incidence rates worldwide were found in Ireland and Wales, where 3–4 cases of myelomeningocele per 1000 population have been reported during the 1970s, along with more than six cases of anencephaly
Anencephaly
Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp...
(both live births and stillbirth
Stillbirth
A stillbirth occurs when a fetus has died in the uterus. The Australian definition specifies that fetal death is termed a stillbirth after 20 weeks gestation or the fetus weighs more than . Once the fetus has died the mother still has contractions and remains undelivered. The term is often used in...
s) per 1000 population. The reported overall incidence of myelomeningocele in the British Isles was 2–3.5 cases per 1000 births. Since then, the rate has fallen dramatically with 0.15 per 1000 live births reported in 1998, though this decline is partially accounted for by the fact that 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.
This condition is more likely to appear in females; the cause for this is unknown.
Media
Nadia DeFranco, a young girl living with spina bifida was the subject of a Canadian short documentary I'll Find a WayI'll Find a Way
I'll Find a Way is a 1977 short documentary film directed by Beverly Shaffer about nine-year-old Nadia DeFranco, who has spina bifida. Produced by the National Film Board of Canada, the film won an Academy Award in 1978 for Best Short Subject....
, winner of the Academy Award for Best Live Action Short Film
Academy Award for Best Live Action Short Film
This name for the Academy Award for Live Action Short Film was introduced in 1974. For the three preceding years it was known as "Short Subjects, Live Action Films." The term "Short Subjects, Live Action Subjects" was used from 1957 until 1970. From 1936 until 1956 there were two separate...
in 1977.
The principal character in Stronger than Superman, an award winning theatre play by Roy Kift for audiences of 14 years and upwards, is a teenage boy with spina bifida. It premiered at the GRIPS Theater in Berlin in 1981 and has been performed all over the world, including Iceland, India and China. The play is a comedy with songs, whose humour derives from the reactions of the outside world to handicapped persons. It is published by Amber Lane Press in GB.
Notable people
Notable people that have spina bifida:- Samuel ArmasSamuel ArmasSamuel Alexander Armas is the child shown in a famous photograph by Michael Clancy of his surgeon holding his hand from out of a hole in his mother's uterus during open fetal surgery for spina bifida.-Story behind the photo:...
(an early recipient of open fetal surgery) - Lucy Coleman, from the children's TV show Signing Time!Signing Time!Signing Time! is a television program targeted towards children one through eight that teaches American Sign Language. It is filmed in the United States and was created by Rachel de Azevedo Coleman and Emilie Brown. Coleman also hosts the series. Between the years 2006 and 2008, it was aired by...
- Andy W. Clift, British animator and film maker
- James Connelly, US ParalympianUnited States at the 2006 Winter ParalympicsThe United States sent 56 athletes to the 2006 Winter Paralympics in Turin, Italy, the largest delegation of any nation. Chris Devlin-Young, a 15-year veteran of the U.S. Disabled Ski Team and four-time Paralympic medalist in alpine skiing, served as the flag bearer at the opening ceremonies....
, 2006 Bronze Medal Winner2006 Winter ParalympicsThe 2006 Winter Paralympic Games, the ninth Winter Paralympics, took place in Turin, Italy from 10 to 19 March 2006. These were the first Winter Paralympic Games to be held in Italy. They were also the first Paralympics to use the new paralympics logo....
, 2010 Gold Medal Winner2010 Winter ParalympicsThe 2010 Winter Paralympics, officially the X Paralympic Winter Games, or the 10th Winter Paralympics, were held in Vancouver and Whistler, British Columbia, Canada from March 12 to 21, 2010. The Opening Ceremony took place in BC Place Stadium in Vancouver and the Closing Ceremony in Whistler...
; Sledge hockeySledge hockeySledge hockey is a sport that was designed to allow participants who have a physical disability to play the game of ice hockey. Ice sledge hockey was invented in the early 1960s in Stockholm, Sweden at a rehabilitation center... - Jean DriscollJean DriscollJean Driscoll is an American wheelchair racer. She won the women's wheelchair division of the Boston Marathon eight times, more than any other female athlete in any division. Her wins in Boston included seven consecutive first place finishes from 1990 to 1996...
, ParalympianParalympic GamesThe Paralympic Games are a major international multi-sport event where athletes with a physical disability compete; this includes athletes with mobility disabilities, amputations, blindness, and Cerebral Palsy. There are Winter and Summer Paralympic Games, which are held immediately following their...
and eight-time Boston MarathonBoston MarathonThe Boston Marathon is an annual marathon hosted by the U.S. city of Boston, Massachusetts, on Patriots' Day, the third Monday of April. Begun in 1897 and inspired by the success of the first modern-day marathon competition in the 1896 Summer Olympics, the Boston Marathon is the world's oldest...
winner - Guro FjellangerGuro FjellangerGuro Fjellanger is a Norwegian politician for the Liberal Party. She served as Minister of the Environment in the first cabinet Bondevik, as the first Norwegian government minister with a disability.-Career:...
, Norwegian politician - Aaron FotheringhamAaron FotheringhamAaron Fotheringham is an extreme wheelchair athlete who performs tricks adapted from skateboarding and BMX.-Biography:...
, American extreme wheelchair athlete - Tanni Grey-ThompsonTanni Grey-ThompsonCarys Davina "Tanni" Grey-Thompson, Baroness Grey-Thompson, DBE is a Welsh athlete and TV presenter.Grey-Thompson was born with spina bifida and uses a wheelchair. She is considered to be one of the most successful disabled athletes in the UK...
, British ParalympianParalympic GamesThe Paralympic Games are a major international multi-sport event where athletes with a physical disability compete; this includes athletes with mobility disabilities, amputations, blindness, and Cerebral Palsy. There are Winter and Summer Paralympic Games, which are held immediately following their... - Lawrence GwozdzLawrence GwozdzLawrence S. Gwozdz is an internationally renowned American saxophonist in the classical tradition. His artistic sensibilities have made him a champion of a broad array of compositions, from Baroque transcriptions to contemporary music.-Biography:...
, US saxophonist - Adam HallAdam Hall (alpine skier)Adam J. Hall MNZM is a New Zealand alpine skier and Paralympic gold medalist.He competed for New Zealand at the 2006 Winter Paralympics, where he placed 41st in the men's downhill event, 43rd in the men's giant slalom and 50th in the men's Super-G, standingAt the 2010 Winter Paralympic Games, he...
, New Zealand ParalympianNew Zealand at the 2010 Winter ParalympicsNew Zealand sent a delegation to take part in the 2010 Winter Paralympics in Vancouver, Canada. The country fielded two athletes, both in alpine skiing....
, 2010 Gold Medal Winner2010 Winter ParalympicsThe 2010 Winter Paralympics, officially the X Paralympic Winter Games, or the 10th Winter Paralympics, were held in Vancouver and Whistler, British Columbia, Canada from March 12 to 21, 2010. The Opening Ceremony took place in BC Place Stadium in Vancouver and the Closing Ceremony in Whistler... - Blaine HarrisonBlaine HarrisonBlaine Harrison is an English musician and songwriter best known as the lead vocalist of the indie rock band Mystery Jets.-Early life:...
, lead singer, keyboards, rhythm guitarist and former drummer of the British band Mystery JetsMystery JetsMystery Jets are an English five-piece indie band, formerly based on Eel Pie Island in Twickenham, London. The band was formed by Henry Harrison , Blaine Harrison and William Rees when the boys were still at school and would send each other songs on cassettes... - Robert HenselRobert M. HenselRobert Michael Hensel was born with the birth defect known as Spina bifida. He is also a Guinness World Records holder for the longest non-stop wheelie in a wheelchair, covering a total distance of 6.178 miles...
, Guinness record holderGuinness World RecordsGuinness World Records, known until 2000 as The Guinness Book of Records , is a reference book published annually, containing a collection of world records, both human achievements and the extremes of the natural world... - Rene KirbyRene KirbyRene Kirby is an American film and television actor. He is perhaps best known for his performance in the Farrelly Brothers' film Shallow Hal...
, US actor in films such as Shallow HalShallow HalShallow Hal is a 2001 romantic comedy film starring Gwyneth Paltrow, Jack Black, and Jason Alexander. It was directed by the Farrelly Brothers and filmed in and around Charlotte, North Carolina as well as Sterling and Princeton, Massachusetts at Wachusett Mountain.- Plot :Hal Larson is a...
and Stuck on You - Matt LloydMatt Lloyd (Paralympian)Matthew "Matt" Lloyd is a British paralympian who was born with spina bifida and two club feet. He has competed in Ice sledge hockey at the 2006 Winter Paralympics, in Sitting volleyball at the 2007 European Championships, and is credited with inventing the sport of Inline sledge hockey...
, British Paralympian - John MellencampJohn MellencampJohn Mellencamp, previously known by the stage names Johnny Cougar, John Cougar, and John Cougar Mellencamp, is an American rock singer-songwriter, musician, painter and occasional actor known for his catchy, populist brand of heartland rock that eschews synthesizers and other artificial sounds...
, US rock and roll musician - Karin MuraszkoKarin MuraszkoKarin Marie Muraszko is Julian T. Hoff Professor and chair of the Department of Neurosurgery at the University of Michigan. She is the first woman to head a neurosurgery department at any medical school in the US....
, chair of Department of NeurosurgeryNeurosurgeryNeurosurgery is the medical specialty concerned with the prevention, diagnosis, treatment, and rehabilitation of disorders which affect any portion of the nervous system including the brain, spine, spinal cord, peripheral nerves, and extra-cranial cerebrovascular system.-In the United States:In...
at University of MichiganUniversity of Michigan Health SystemThe University of Michigan Health System is the wholly owned academic medical center of the University of Michigan in Ann Arbor. UMHS includes the U-M Medical School, with its Faculty Group Practice and many research laboratories; the U-M Hospitals and Health Centers, which includes University...
, first female appointed to such a position in the US - Chandre OramChandre OramChandre Oram is an Indian tea estate worker who lives in Alipurduar district of Jalpaiguri, West Bengal. He is famous for having a 33 cm long tail, which has made him an object of devotion to many, who believe him to be an incarnation of Hanuman.- Object of devotion :Oram was born on the date...
, an Indian man famous for his tail - David ProudDavid ProudDavid Proud is an English actor. He was born with spina bifida and uses a wheelchair. He only began his acting career during his early twenties, having previously believed that it would be impossible for him to have a career in that field. His first professional acting role was as a wheelchair...
, British actor - Jack Pryor, Professor of Developmental Neurology, University of Warwick
- Jesse RichardsJesse RichardsJesse Richards is a painter, filmmaker and photographer from New Haven, Connecticut and was affiliated with the international movement Stuckism.-Early life:...
, American artist and filmmaker, founder of Remodernist filmRemodernist FilmRemodernist film developed in the United States and the United Kingdom in the early 21st century with ideas related to those of the international art movement Stuckism and its manifesto, Remodernism... - George Schappell, conjoined twin and country musicCountry musicCountry music is a popular American musical style that began in the rural Southern United States in the 1920s. It takes its roots from Western cowboy and folk music...
musician - Bobby SteeleBobby SteeleBobby Steele is an American punk rock musician. He is the current guitar player, songwriter, and sole original member of punk band The Undead. He has been a member of multiple other bands, most notably, as the second guitarist of The Misfits...
, US punk rockPunk rockPunk rock is a rock music genre that developed between 1974 and 1976 in the United States, the United Kingdom, and Australia. Rooted in garage rock and other forms of what is now known as protopunk music, punk rock bands eschewed perceived excesses of mainstream 1970s rock...
guitarist and songwriter - Jeffrey TateJeffrey TateDr Jeffrey Tate CBE is an English conductor.Tate was born with spina bifida, and also has kyphosis. His family moved to Farnham, Surrey when he was young and he attended Farnham Grammar School between 1954 and 1961 gaining a State Scholarship to Cambridge University, where he directed theatre...
, British conductor - Dale Tryon, Baroness TryonDale Tryon, Baroness TryonDale Elizabeth Tryon, Baroness Tryon , was a colourful figure in royal court circles, being a close friend of both Prince Charles and Diana, Princess of Wales, and a successful businesswoman in the international fashion world, with the fashion label "Kanga" and couture line "The Dale Tryon...
, Australian socialiteSocialiteA socialite is a person who participates in social activities and spends a significant amount of time entertaining and being entertained at fashionable upper-class events....
and friend of Prince Charles - Hank Williams, US country music singer
- Lucinda WilliamsLucinda WilliamsLucinda Williams is an American rock, folk, blues and country music singer and songwriter. She recorded her first albums in 1978 and 1980 in a traditional country and blues style and received very little attention from radio, the media, or the public. In 1988, she released her self-titled album,...
, US country music singer/songwriter - Miller WilliamsMiller WilliamsMiller Williams is an American contemporary poet, as well as a translator and editor. He has authored over twenty-five books and won several awards for his poetry. His accomplishments have been chronicled in Arkansas Biography. He is perhaps best known for reading a poem at President Clinton's...
, US poet - Justin YoderJustin YoderJustin Ross Yoder was the first child with a disability to drive a soapbox in the All American Soapbox Derby. In 1996, Yoder challenged the regulations to allow children with disabilities to use a hand brake instead of the required foot brake. Thanks to him regulations were changed...
, US soap box racerSoap Box DerbyThe Soap Box Derby is a youth soapbox car racing program which has been run in the United States since 1934. World Championship finals are held each July at Derby Downs in Akron, Ohio...
Popular Culture
At the end of Season 7 of Grey's AnatomyGrey's Anatomy
Grey's Anatomy is an American medical drama television series created by Shonda Rhimes. The series premiered on March 27, 2005 on ABC; since then, seven seasons have aired. The series follows the lives of interns, residents and their mentors in the fictional Seattle Grace Mercy West Hospital in...
, Derek Shepherd and Meredith Grey attempt to adopt an African orphan, Zola, diagnosed with Spina Bifida.
See also
- Valproic acidValproic acidValproic acid is a chemical compound that has found clinical use as an anticonvulsant and mood-stabilizing drug, primarily in the treatment of epilepsy, bipolar disorder, and, less commonly, major depression. It is also used to treat migraine headaches and schizophrenia...
- PseudomeningocelePseudomeningoceleA pseudomeningocele is an abnormal collection of cerebrospinal fluid that communicates with the CSF space around the brain or spinal cord. In contrast to a meningocele, in which the fluid is surrounded and confined by dura mater, in a pseudomeningocele, the fluid has no surrounding membrane but...
- Malone antegrade continence enemaMalone antegrade continence enemaA Malone antegrade continence enema, also known as Malone procedure and by the abbreviation MACE, is a surgical procedure used to create a continent pathway proximal to the anus that facilitates fecal evacuation using enemas....
(MACE) - MeningohydroencephalocoeleMeningohydroencephalocoeleMeningohydroencephalocoele is a form of meningocele - a developmental abnormality of the central nervous system....
- Mitrofanoff appendicovesicostomyMitrofanoff appendicovesicostomyMitrofanoff appendicovesicostomy, also known as the Mitrofanoff procedure, is a surgical procedure in which the appendix is used to create a conduit between the skin surface and the urinary bladder.-Description of procedure:...
External links
- http://www.ifglobal.org/en/spina-bifida.html
- CDC: Spina Bifida
- The International Federation for Spina Bifida and Hydrocephalus - Umbrella organization
- Association for Spina Bifida and Hydrocephalus (of the UK)
- Spina Bifida Association of America
- Spina Bifida Support Forum (Global - not affiliated with any national organization)
- UCSF Fetal Treatment Center: Myelomeningocele (Spina Bifida)
- National Institute of Neurological Disorders and Stroke: Spina Bifida Information Page
- Mayo Clinic: Spina bifida Symptoms
- The Children's Hospital of Philadelphia: Eligibility Guidelines for Prenatal Repair of Myelomeningocele