SPIN BIFIDA CAUSES TREATMENT

• General information about spina bifida
  • What is spina bifida
  • Causes and risk factors for spina bifida
  • Incidence of spina bifida
  • Types of spina bifida
  • Symptoms of spina bifida
  • Diagnosing spina bifida
  • Conditions associated with spina bifida
• How spina bifida is treated
  • Surgical treatment for spina bifida
  • Complementary treatment for spina bifida
  • Social integration of children with spina bifida
• How to prevent spina bifida
  • Diet during pregnancy
  • Medication during pregnancy
  • Restrictions during pregnancy

This article was written by Dr. Cezar Tomescu, pediatric orthopedic specialist, who practices medicine at our clinic and at the Medlife Pediatric Hospital.

General information about spina bifida

Classified as a neural tube defect, spina bifida has been recognized as a spinal condition for 4000 years. Since then, the term myelodysplasia has also been used as a synonym for spina bifida. It represents a variable defect in which the vertebral arch of the spine is not completely fused, thus leading to the incomplete development of the neural tube in the lumbar or sacral area.

The term bifida comes from the Latin bifidus, meaning "split into two parts."

Spina bifida begins in the womb, when the tissues that fold to form the neural tube do not close or do not remain completely closed. This reaction causes an opening in the vertebrae that surround and protect the spinal cord, just a few weeks (21 to 28 days) after conception - usually before the woman knows she is pregnant.

What is spina bifida

Spina bifida is a birth defect affecting the spine, progressing from an opening in the back of the vertebral bones (the bones of the spine). In more severe cases, it involves the spinal cord. Spina bifida is the most common condition in a group of birth defects also known as neural tube defects, which affect the central nervous system (the brain and spinal cord).

The condition is usually detected before a child is born and is treated immediately. Other neural tube defects include anencephaly, a condition in which the portion of the neural tube that will become the brain does not close, and encephalocele, which results when other parts of the brain remain unfused.

Causes and risk factors for spina bifida

Both genetic factors and environmental factors, such as nutrition and exposure to harmful substances, contribute to spina bifida. Having a child with spina bifida increases the chance of another child having spina bifida by up to 8 times. In about 95% of spina bifida cases, however, there is no family history of neural tube defects.

Research has suggested that many cases of spina bifida can be prevented by adequate intake of folic acid before and during early pregnancy. However, people with spina bifida appear to have abnormal folic acid metabolism. This suggests that the underlying problem in spina bifida may be an inborn defect in folic acid metabolism, rather than a simple deficiency of this nutrient.

A high fever during pregnancy can increase a woman's chances of having a child with spina bifida. Women with epilepsy who have taken specific medication to control seizures may have an increased risk of having a child with spina bifida.

Incidence of spina bifida

Most infants with myelomeningocele are born to mothers who have not previously had an affected child. However, other offspring in a family with an affected child are at greater risk for a neural tube defect than children without affected siblings.

The risk is 1 in 20-30 for subsequent pregnancies, and if 2 children are affected, the risk becomes 1 in 2. An increased risk of myelomeningocele has also been reported for second- and third-degree relatives of affected individuals.

Up to 10% of fetuses with a neural tube defect detected in early gestation have an associated chromosomal abnormality. Associated chromosomal abnormalities include trisomies 13 and 18, triploidy, and single-gene mutations. The incidence of occult spina bifida is about 10% of the population.

Types of spina bifida

Cystic spina bifida can occur anywhere along the spinal axis, but is most commonly found in the lumbar region. In this condition, the spine is split and forms cysts. A meningocele, a cystic swelling, protrudes through the spina bifida defect in the vertebral arch. A person with a meningocele may have no neurological sequelae.

Cystic spina bifida becomes a problem when tissue extends into the meningocele, in which case the cyst is called a myelomeningocele. This is the most significant and common type of spina bifida, accounting for 94% of cases.
The different types of spina bifida are:

• Occult spina bifida
• Cystic spina bifida
• Meningocele
• Myelomeningocele

Occult spina bifida

Occult means hidden, meaning the defect is not visible or has no symptoms. These are the mildest forms of spina bifida. In occult spina bifida, the outer part of some of the vertebrae is not completely closed. The gap 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 may show hair growth; there may be a skin patch or a birthmark.

Most children with this type of defect never have health problems, and the spinal cord is often unaffected. Occult spina bifida is rarely linked to complications or symptoms, and is usually discovered by accident, when the person has an X-ray or MRI for another reason.

Meningocele, the mild form of manifest spina bifida

The least common form of spina bifida is posterior meningocele (or meningeal cyst, involving the meninges, the membranes responsible for covering and protecting the brain and spinal cord). If the meninges push through the hole in the vertebrae (the small bones forming the spine), the sac is called a meningocele, and spinal fluid leaks push through the skin.

A swelling of the skin may be seen, but in many cases there are no other symptoms. In a posterior meningocele, the vertebrae develop normally. However, the meninges are forced into the gap between the vertebrae.

Since the nervous system remains undamaged, people with a meningocele are not prone to long-term health problems. Symptoms may be partial paralysis or none at all, and these cysts can sometimes be removed by surgery, allowing the child to develop normally.

Myelomeningocele, the severe form of manifest spina bifida

Myelomeningocele is the most severe form of spina bifida. It occurs when the meninges push through the hole in the back, and the spinal cord does the same. Most children born with this type of spina bifida also have hydrocephalus, an accumulation of fluid in and around the brain. Due to abnormal development and damage to the spinal cord, a child with myelomeningocele usually has some form of paralysis.

The degree of paralysis largely depends on where the opening in the spine occurs. The higher the opening on the back, the more severe the paralysis. Some of the spinal nerves spread out from the spinal canal, and a swelling of the skin may be seen. The nerves are often affected, which can lead to problems with walking, bladder or bowel control, and coordination.

In certain cases, in children, the skin is open and the nerves are exposed. This is the type of spina bifida that causes the vast majority of disability. Exposure of these nerves and tissues makes a child more prone to life-threatening infections. Many people with spina bifida will have an associated abnormality of the cerebellum, called 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.

Symptoms of spina bifida

Meningocele and myelomeningocele are evident at birth. Apart from the obvious deformity of the spinal cord, symptoms are caused by complications of spina bifida. The most common complications include the following: even after one or more surgeries to correct the defects, some disabilities almost always remain present - varying degrees of leg paralysis, curvature of the spine (scoliosis), deformities of the hip and legs, and problems with bowel and bladder control are the most common residual disabilities. In addition, abnormalities in the lower spine are always accompanied by abnormalities of the brain (Arnold-Chiari malformations), causing subtle coordination problems, which can usually be improved through physical therapy.

Deformities of the spine, hip and foot are often caused by imbalances in muscle strength and function that largely result from residual paralysis, but with a component of spasticity.

The most common bladder and bowel problems are the inability to voluntarily relax the muscles (sphincters) that hold urine in the bladder and stool in the rectum.

Hydrocephalus (fluid accumulation in the brain) is another common residual problem, affecting most people with spina bifida. Having some fluid around the brain is normal and healthy, but in spina bifida, the fluid cannot drain naturally. Without treatment, this extra fluid can cause neurological problems or intellectual disability; however, these individuals are intelligent and normal if their hydrocephalus is treated aggressively. Hydrocephalus often gradually recurs after treatment.

Many children with myelomeningocele have or develop a tethered spinal cord. The spinal cord is attached to the surrounding tissues and cannot move up and down freely as it normally would. This can cause foot deformities, hip dislocation or scoliosis. Problems can worsen as the child grows and the tethered spinal cord is stretched.

Obesity (due to inactivity) and urinary tract disorders (due to poor drainage) are frequent complications of spina bifida.

Pathological bone fractures occur in a significant percentage of people with spina bifida. A pathological fracture is a break that occurs due to weakness or disease in the bone, not solely due to injury. A very minor injury can trigger a pathological fracture, causing pain and requiring medical care.

Growth hormone deficiency resulting in short stature is common in people with spina bifida. On average, these individuals are a few centimeters shorter than their siblings or peers.

Although most people with spina bifida have normal intelligence, many have learning disabilities. Adequate treatment for hydrocephalus and adaptive physical therapy are necessary to allow access to educational opportunities.

Psychological, social and sexual problems occur more often in people with spina bifida than in the general population.
Latex allergy (a natural rubber used in medical gloves, some types of elastic, balloons and many other common items) is very common in people with spina bifida. This is considered to be a result of intense exposure to latex in the early years of life due to frequent surgeries and other medical procedures.

Even people who show no apparent symptoms or disabilities from spina bifida may have subtle signs or neurological problems. Some, for example, have a patch, a dark area or an area covered with hair on the skin covering the base of the spine. Others have a fatty growth called an epidural lipoma, which forms in the spinal canal; this is usually harmless, but can lead to tethering of the spinal cord.

People with occult spina bifida are almost always completely asymptomatic.

Diagnosing spina bifida

A pregnant woman can have a blood test (a triple or quadruple maternal serum screen) and a fetal ultrasound to check for spina bifida and other problems with the fetus.

If the test results suggest a birth defect, she may choose to have an amniocentesis. This test will help the doctor confirm whether spina bifida is present. But the test also carries risks, such as a chance of miscarriage. The tests are not perfect. However, most mothers who have positive blood tests have normal children.

Also, even if the results are negative, there is still a small chance that spina bifida may be present.

Prenatal tests

For some children, evaluation for spina bifida begins before birth. A prenatal test measures the level of maternal serum alpha-fetoprotein (AFP), which is unusually high in women carrying a fetus with spina bifida or another neural tube defect. This test is usually done as a set of 3 tests known together as the "triple screen." The triple screen includes AFP, ultrasound and amniotic fluid testing.

Any pregnant woman with a high AFP level should undergo two additional tests that are very accurate in detecting severe spina bifida: an ultrasound of the fetal spine and amniotic fluid testing for AFP. Amniotic fluid is the fluid that surrounds the fetus in the womb. A small amount of fluid is removed through a large needle and tested in various ways that could indicate abnormalities in the fetus. Removal of amniotic fluid is a safe, routine procedure called amniocentesis.

Postnatal tests

Evaluation of a child with spina bifida includes the following:

• Detailed analysis of the individual's medical history (if not a newborn), the family's medical history, and details about the pregnancy and birth.
• Physical examination focused on neurological deficits, musculoskeletal deformities and psychological evaluation; in the case of an older child, evaluation of developmental, social and learning disorders.
• Evaluation of the body's critical systems, such as the heart, blood circulation, lungs and kidneys, to ensure the child's ability to undergo surgery.
• Imaging studies are performed as needed to detect new or worsening complications.
• X-rays are used to detect vertebral abnormalities, scoliosis, hip deformities, pathological fractures and other bone abnormalities that are common and may or may not cause pain and other symptoms in spina bifida.
• Ultrasound can be used to evaluate a painful area that suggests a pathological fracture.
• A CT scan of the head is used to evaluate hydrocephalus.
• MRI testing provides the best detailed information about abnormalities of the spinal cord and the extent of spinal cord and nerve involvement.

Gait analysis is an assessment of the child's ability to move. Walking involves many different body systems, including the brain, sensory organs (such as the eyes), the spinal cord and nervous system, the bones and joints of the neck, back, hips, legs, and the ligaments.

Walking is a complex activity. It can be affected by any defect in any of these systems. Gait analysis looks at all these systems and their interactions, precisely in order to identify problems related to balance, movement, strength and coordination. The findings of gait analysis can be used to help people with spina bifida improve their ability to walk.

Conditions associated with spina bifida

There are various disorders associated with spina bifida. These disorders include:

• Anencephaly - this disorder refers to the absence of a large part of the brain or skull. It is also called aprosencephaly or open skull. It is the neural defect that occurs when the upper part of the neural tube fails to close. Possible risk factors for this abnormality include low folic acid levels in pregnant mothers and exposure to certain toxins or medications during pregnancy. Its incidence is one in 10,000 births.
• Encephalocele - this is another neural tube defect resulting from incomplete closure of the upper part of the neural tube. The other name associated with it is cranium bifidum, which has many similarities to spina bifida. It is a rare abnormality that occurs at a rate of one in 5000 births.
• Tethered spinal cord - this syndrome is characterized by the spinal cord being pulled toward the base of the spinal canal, along with resulting clinical manifestations.
• Chiari malformation - this is another condition associated with neural tube defects. In this case, there is an extension of the cerebellum into the spinal canal. Symptoms associated with upper body weakness, difficulty swallowing and breathing, and hydrocephalus may occur.
• Meckel syndrome - this problem is associated with neural tube defects and has the following characteristics: occipital encephalocele together with microcephaly, kidney disease with multiple cysts, ambiguous genitalia, etc.
• Dandy-Walker malformation - This is characterized by enlargement of the 4th ventricle, together with a cyst extending into the posterior cranial fossa. This malformation is also associated with neural tube defects.

How spina bifida is treated

Currently, there is no cure for spina bifida, but there are several options to reduce the severity of symptoms. However, in most cases, surgery will be needed to ease the problems associated with spina bifida.

Meningocele and myelomeningocele are the two more severe forms of spina bifida and will require surgery to protect the patient from further damage.

Surgical treatment for spina bifida

Fetal surgery includes a wide range of surgical procedures performed to treat birth defects, such as spina bifida in fetuses who are still in the womb. Open fetal surgery and minimally invasive fetoscopic surgery are well-known procedures adopted for the prenatal treatment of fetuses suffering from neural tube defects. Open fetal surgery refers to fully opening the uterus to operate on the fetus.

Minimally invasive surgery is performed on fetuses through small incisions, with a fetoscope and sonography. In some cases, fetal surgery can be performed without an incision or fetoscope; however, it is always performed with a real-time cross-sectional view provided by the sonogram. Since the fetal operation for spina bifida is performed during the antenatal period, it is also called prenatal spina bifida surgery.

Fetal surgery, if necessary, can be performed anytime between 18-30 weeks of gestation. However, open fetal surgery is not without risks. For example, the risk of premature labor is increased in the presence of certain factors, such as multiple gestations, a history of maternal smoking, and very young or older mothers.
Open fetal surgery is quite safe for the mother, but for the fetus, safety varies from child to child and depends on the following factors:

• The types of specific procedures
• The reasons for the procedure
• The gestational age of the fetus
• The condition of the fetus

Children treated with open fetal surgery have a significantly improved prognosis compared to children whose defects are corrected shortly after birth. Postnatal surgical treatment, that is, surgical repair, is the most common treatment choice after birth. The child must be handled carefully before this stage to avoid the risk of spinal cord injury. It is very important to perform surgical repair to close the defect within the first 48 hours after birth, to preserve the neural tissue and prevent other complications, such as infections. Antibiotics are given to the child as prophylaxis to prevent infections.

Prenatal treatment for spina bifida

Treatment for spina bifida depends on the severity of the condition. Occult spina bifida does not always require treatment, but for other types of spina bifida it is necessary. Surgery before birth increases the chances of a child suffering from myelomeningocele developing a more natural neural system. It also increases the baby's chances of walking without orthotic devices and, if performed before 26 weeks of gestation, decreases the risk of death.

Postnatal treatment for spina bifida

Even for those who have had surgery, the need for care is ongoing, especially for patients who have already suffered nerve damage. Physical therapy will be necessary and ongoing sessions will be carried out.

As children with spina bifida grow, they may need the help of orthotic devices or crutches, on one condition: that their paralysis be minor. In addition, depending on the damage to the spinal cord, additional surgery may be needed to ease problems associated with spinal cord injury.

Patients with spina bifida also suffer from more infections, especially bladder infections, which means they may need ongoing antibiotic treatment to help prevent recurring problems.

Complementary treatment for spina bifida

Complementary therapies can be used together with conventional medical treatments to support and enhance quality of life and well-being. They are not intended to "cure" the person. Instead, they are used to help control symptoms, such as pain or fatigue.

Complementary therapies include:

• Relaxation
• Meditation
• Visualization
• Aromatherapy
• Reflexology
• Music therapy
• Art therapy
• Massage

Alternative treatments are used instead of conventional ones. Alternative therapies are often promoted as "remedies," but they are unproven and have not been scientifically tested. They can cause harm or pain to those who use them instead of conventional medical treatments.

Some examples of alternative therapies include:

• Naturopathy
• Homeopathy
• Chinese herbs
• Megavitamins

Physical therapy (kinetotherapy)

Physical therapy for children with spina bifida uses basic techniques that include prophylactic and therapeutic "stretching," gait training, movement monitoring and parent training. The success or failure of the treatment largely depends on the physical therapist's ability to teach and encourage parents to help the child become as independent as possible, in all aspects of daily life. 

Physiotherapy

When dealing with cases of newborns with spina bifida, the physical therapist establishes a baseline of muscle function. As the child develops, the physical therapist monitors joint alignment, muscle imbalances, muscle contractions, posture and signs of increasing neurological deficits. The physical therapist provides caregivers with instructions on handling and positioning techniques and recommends orthotic positioning tools to stop soft tissue contractures.

Different factors can affect the ability to walk for people with spina bifida, and the most important factor is the location of the malformations. People who have had a larger lesion at the thoracic and upper spine level are more likely to be in wheelchairs, compared to those with lower lumbar and sacral malformations.

Another important factor affecting an individual's ability to walk is the use of assistive devices, whether a prosthesis or crutches. To promote walking ability, an assistive device can be essential.

Occupational therapy

Children with spina bifida often have deficits in motor skills and in performing daily life activities. Early therapy to correct these deficits is beneficial. Stabilization of the upper extremities and hand use require adequate postural control of the head and trunk. In the first year of life, it is necessary to promote the development of these postural mechanisms or to use passive support, if necessary, to promote eye-hand coordination and manipulation skills. Once adequate fine motor skills are achieved, the occupational therapist trains patients in the use of adaptive tools and other self-care methods.

Treating urinary or bowel incontinence

People with open spina bifida often have nerve damage that prevents the bladder from emptying completely, a condition that can cause urinary tract infections and kidney damage. The child or parent can address this problem by inserting a plastic tube called a catheter into the bladder several times a day, to allow the bladder to empty.

Medications, injections and surgery can also help resolve incontinence problems and maintain normal kidney and bladder function long-term. Children with spina bifida should regularly see a urologist (a doctor who specializes in urinary tract problems).

Social integration of children with spina bifida

Even with severe spina bifida, most children can walk short distances, usually with the help of braces, canes or crutches, although they may need wheelchairs for longer distances. Using these devices can help a child compensate for their condition and gain more independence.

Many children with spina bifida have normal intelligence, but may need early educational intervention for learning problems. They may also need extra help from teachers and counselors to adapt to school. When a child with spina bifida starts school, they may have an individual education plan. The school system must be aware of the type of special attention or needs the student requires. These plans are developed by parents, teachers, the school nurse and the school psychologist, to provide the student with a suitable learning environment.

A physical disability such as spina bifida can also cause emotional and social problems. Children with spina bifida need encouragement to participate in activities with their peers and to lead independent lives, within their physical limits and abilities. It may be helpful to remember that these children have never known what is accepted as normal function and often adapt to their condition in remarkable ways.

How to prevent spina bifida

It is the belief of medical specialists that the best way to prevent spina bifida in newborns is by keeping the mother fortified with folic acid. However, folic acid will only help prevent spina bifida if it is taken at least a month before the pregnancy begins. Taking folic acid supplements before conception reduces the risk of the condition, as well as other neural tube defects.

Researchers believe that having sufficient folic acid in the system, especially in the first weeks of pregnancy, will prevent spina bifida. However, if the pregnancy was not planned, not all women will have sufficient amounts of folic acid in their system. With many surprise pregnancies, it is important for women of childbearing age to maintain optimal folic acid levels, in case they become pregnant. It is recommended that women take daily supplements of at least 400 micrograms of folic acid. Bread, pasta and rice contain up to 400 micrograms of folic acid per serving. This may be the best natural way to help prevent the possibility of having a child with spina bifida. Unless these natural foods are consumed daily, there is no guarantee that the body is fortified with the supplement.

If a woman has already given birth to a child with spina bifida and is planning another pregnancy, she will want to increase her folic acid intake to prevent a birth with identical problems. Those being treated with anti-seizure medications, or those with diabetes, may also need to increase their vitamin B intake, in addition to increasing their folic acid supplement. It has been recommended that these women take a higher daily dose of folic acid, for at least 30 days before becoming pregnant.

As with all supplements, it is recommended to consult a doctor before adding them to a daily routine. A folic acid deficiency is only one of the possible causes of spina bifida, and others include environmental and genetic risk factors. However, folic acid deficiency is the one that potential mothers can control.

While neural tube deficiencies can be an indicator of a woman with a higher potential for having a child with spina bifida, many children who suffer from this condition were born to parents with no family history of the disorder. Women with uncontrolled diabetes are also at a higher risk of having a child with spina bifida.

Diet during pregnancy

If the pregnant woman or the unborn child already has spina bifida, there is no treatment for the disorder. However, a pregnant woman can make some nutritional choices that can help reduce the risk of spina bifida occurring in the developing child. Spina bifida is associated with an insufficient amount of folic acid.

Eating foods that contain folic acid, such as dark green vegetables, egg yolks, fruits and foods fortified with folic acid, can help prevent this disorder. It is also recommended to take a folic acid supplement.

Medication during pregnancy

While the full picture of what causes spina bifida has not yet been fully clarified, it is clear that some medications, both prescription and over-the-counter, can increase the risk of a child having this developmental defect at birth. Because the defect occurs in the first few weeks of pregnancy, a pregnant woman must be especially careful about medication use during the first trimester.

If a child has a genetic predisposition to spina bifida, these medications can increase the risk of having this neural tube defect. The decision to become pregnant or not, for women who must take prescription medications to control organic diseases such as depression or seizures, becomes a real struggle.

Restrictions during pregnancy

Any kind of medication not prescribed by a doctor is prohibited during any type of pregnancy, and especially during a pregnancy in which the fetus has spina bifida. The pregnant woman must avoid exposure to chemicals, smoking, infections, and especially stress.

IF YOU DON'T ALREADY KNOW US

Centrokinetic is the place where you will find answers and clear solutions for your mobility problems. The clinic dedicated to bone and joint conditions is divided into the following specialized departments:

• Orthopedics, a department made up of a highly experienced team of orthopedic surgeons, led by Dr. Andrei Ioan Bogdan, senior physician in orthopedics-traumatology, with surgical activity at  the Medlife Orthopedic Hospital, specialized in sports traumatology and in ankle and foot surgery.
• Pediatric orthopedics, where children's sports injuries are treated (ligament and meniscus injuries), spinal deformities (scoliosis, kyphosis, hyperlordosis) and foot conditions (hallux valgus, hallux rigidus, clubfoot, flat valgus foot, cavus foot).
• Neurology,  which has a state-of-the-art department, where consultations, electroencephalograms (EEG) and electromyograms (EMG) are performed. 
• Medical rehabilitation for adults and children, a department specialized in the recovery of performance athletes, in spinal conditions, and in the recovery of children with neurological and traumatic conditions. Our experience is extremely rich, having treated over 5000 performance athletes.
• Medical imaging, the clinic being equipped with ultrasound and MRI, high-performance devices dedicated to musculoskeletal conditions, and complemented by an experienced team of radiologists: Dr. Sorin Ghiea and Dr. Cosmin Pantu, specialized in musculoskeletal imaging.

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