Spina Bifida is a congenital disease related to the central nervous system, leading to various physical and neurological problems in the body due to a disorder occurring in the development of the spinal cord. The opening in the spinal cord causes the spine to not develop properly, which can bring along various health problems. However, not all types of Spina Bifida are equally severe. One of these is Spina Bifida Occulta.
Spina Bifida Occulta is considered the mildest form of Spina Bifida. The word "Occulta" has Latin origins and means "hidden". In this type, the nerves in the spinal cord are generally not affected and most of the time do not show any clinical symptoms. In Spina Bifida Occulta, there is a small opening (spinal cleft) in the spine, but this opening does not cause the spinal cord to protrude outward. This condition can usually only be noticed through radiological examinations, and patients can mostly lead a normal life without experiencing any health problems.
The most distinctive feature of this disease is that it does not cause any damage to the nervous system and therefore the probability of causing neurological problems is very low. However, this small opening in the spine region can sometimes lead to mild pain in the lower back and back region, a lump under the skin, or certain congenital abnormalities. However, in most individuals, this condition may go unnoticed because there are usually no symptoms.
What Are the Different Types of Spina Bifida?
Spina Bifida is a congenital spinal cord disease and can appear in different types. Each type leads to different symptoms, treatment requirements, and long-term effects depending on the degree of damage to the spinal cord. There are three main types of Spina Bifida: Myelomeningocele, Meningocele, and Spina Bifida Occulta. Each of these types can lead to specific health problems due to genetic factors, environmental influences, and differences in the development of the disease.
Myelomeningocele
Myelomeningocele is the most serious and complex type of Spina Bifida. In this condition, the nerves and spinal fluid of the spinal cord protrude and hang out through the opening in the spine. As a disease that needs to be noticed and treated before birth, myelomeningocele can lead to serious neurological and physical problems. This type is generally associated with various health problems such as loss of movement in the legs, bladder and bowel problems, skeletal system problems like Scoliosis, and learning difficulties. In addition, children with this condition often encounter serious complications such as the accumulation of brain fluid (hydrocephalus) and Chiari malformation.
Myelomeningocele requires early surgical intervention. The opening in the spinal cord is closed shortly after birth. Children with this type may also need long-term physical therapy and rehabilitation processes. Besides, patients with this type generally require supportive healthcare services and regular medical care throughout his life.
Meningocele
Meningocele is a less severe form among the types of Spina Bifida. In this type, the membranes surrounding the spinal cord and the brain fluid protrude out through the opening in the spine. However, in this condition, the spinal cord and nerves usually remain in place and do not protrude outward. Meningocele generally progresses with milder neurological effects, but some complications may develop if left untreated. Due to the pressure created by the damage to the nerves and the protrusion of brain fluid, muscle weakness, movement restriction, and certain neurological problems may occur if left untreated.
The treatment of meningocele is usually performed with surgical intervention. During the surgical procedure, the membranes surrounding the spinal cord and the brain fluid are put back into the body, and the opening in the spine is closed. Patients with this type are generally supported with physical therapy and rehabilitation after surgery, but their quality of life can be improved thanks to early intervention and treatment.
Spina Bifida Occulta
Spina Bifida Occulta is the mildest form of Spina Bifida and can generally continue throughout life without being noticed. The word "Occulta" means "hidden" because in this type, although there is an opening in the spine, the nerves are usually not affected, and no neurological damage occurs. Most of the time, Spina Bifida Occulta is not noticed after birth because the symptoms are very mild and do not create any health problems in most patients.
What Problems Can Spina Bifida Cause?
Spina Bifida is a congenital spinal cord disease and can lead to physical and neurological problems of varying severity. Depending on the type of the disease, different problems can arise in different regions of the body. Among the common problems seen in individuals with Spina Bifida, there is a wide range of health problems from bowel and bladder problems to orthopedic problems and neurological complications. Although these problems vary depending on the course of the disease, they can seriously affect the quality of life when left untreated. Some common health problems that Spina Bifida can cause:
Bowel and Bladder Problems
Spina Bifida can affect bowel and bladder functions in the body. Damage to the spinal cord can cause nerves not to work properly, making it difficult to control these organs. Bladder control can weaken significantly, especially in the more severe types of Spina Bifida. This can lead to bladder emptying problems, urinary incontinence, the need for frequent urination, or the inability to empty the urine completely. Similarly, bowel movements can become difficult, and problems such as constipation, fecal incontinence, or bowel leakage may occur. These conditions can reduce a person's quality of life both physically and psychologically and require treatment.
Chiari Malformation
Chiari malformation is a condition that occurs when the brainstem is pushed into the spinal canal. This anomaly is frequently seen in individuals with Spina Bifida and can prevent the proper flow of brain fluid. Chiari malformation can lead to headaches, neck pain, balance problems, muscle weakness, and even swallowing difficulties. Nerve functions can also be affected due to the pressure on the brainstem. This disease generally requires surgical intervention because it can negatively affect brain functions if left untreated.
Hydrocephalus
Hydrocephalus is a condition that occurs as a result of excessive fluid accumulation in the brain. In individuals with Spina Bifida, especially in more severe forms like myelomeningocele, hydrocephalus is frequently seen. The accumulation of brain fluid more than normal can cause brain structures to remain under pressure. This condition can affect brain functions and, if left untreated, can lead to mental retardation, paralysis, vision problems, and other neurological damage. Hydrocephalus generally requires surgical treatment; during this treatment, the regular drainage of brain fluid is ensured.
Latex Allergy
Latex allergy in Spina Bifida patients is a frequently seen condition, especially in hospital environments. Latex is found in many medical supplies and devices, such as gloves and intravenous tubes. Individuals with Spina Bifida can develop allergic reactions when they come into contact with latex. These reactions can lead to symptoms ranging from skin rashes to severe anaphylaxis. Although latex allergy makes the treatment processes of these individuals difficult, it can be brought under control with appropriate precautions.
Movement Problems
Spina Bifida can lead to movement problems, especially depending on the level of damage in the spinal cord. These problems can include issues such as paralysis in the legs, muscle weakness, and lack of coordination. The mobility of individuals varies greatly depending on the type and severity of the disease. For example, in more severe cases like myelomeningocele, the legs may be completely paralyzed, while in milder types, movement may be limited. This situation can make it difficult for patients to maintain his lives independently and may need to be treated with physical therapy.
Orthopedic Problems
Spina Bifida can also create effects on the skeletal system of the body. These effects can lead to the musculoskeletal system not developing properly or deteriorating. Orthopedic problems can be seen especially in the legs, joints, and spine. Orthopedic problems such as scoliosis (sideways curvature of the spine), hip dislocation, deformations or weaknesses in the legs are frequently seen in individuals with Spina Bifida. Such problems may require surgical intervention and physical therapy.
Scoliosis
Scoliosis is the sideways curvature of the spine and is a commonly seen orthopedic problem in individuals with Spina Bifida. This condition occurs due to abnormal development in the spine or damage to the spinal cord. If scoliosis is left untreated, it can increase the pressure on the spine over time and affect vital organs such as the heart and lungs. Therefore, early diagnosis and treatment of scoliosis are of great importance. Treatment options may include physical therapy, brace use, or surgical intervention.
Skin Problems
Spina Bifida can lead to serious problems on the skin, especially in cases where the spinal cord protrudes outward. When the spinal cord protrudes outward, wounds, inflammations, and the risk of infection on the skin increase. This condition may require surgical intervention, and recovery can be achieved with careful skin care. Infections can lead to greater health problems if left untreated, so skin care is extremely important in individuals with Spina Bifida.
Sleep Apnea
Spina Bifida can affect the respiratory tracts and lead to sleep apnea. Sleep apnea is characterized by the cessation of a person's breathing while sleeping. In individuals with Spina Bifida, problems related to the brainstem or spinal cord can cause the respiratory center not to work properly. Sleep apnea can lead to serious heart problems if left untreated, so it is important to detect and treat this condition.
Tethered Cord Syndrome
In individuals with Spina Bifida, tension can occur in the spinal cord. This tension can cause the nerves in the spinal cord to suffer more damage and can lead to more serious neurological problems. Tethered cord syndrome is generally corrected with surgical intervention, and physical therapy is applied to improve the patient's mobility.
What Causes Spina Bifida?
Although the exact cause of Spina Bifida is not fully known, it is thought that both genetic and environmental factors play a role in the development of this congenital disease. Disorders occurring during the normal development of the spinal cord and spine can lead to the formation of Spina Bifida. Certain interactions and factors experienced during fetal development in the womb can cause the spinal cord not to close properly.
At the forefront of these factors is genetic predisposition. Individuals with a family history of Spina Bifida have a higher probability of encountering this disease. However, environmental factors also play a major role. For example, certain environmental factors to which the expectant mother is exposed during pregnancy can increase the risk of Spina Bifida.
Folic Acid Deficiency
One of the most important environmental factors in the development of Spina Bifida is folic acid deficiency. Folic acid is a critical vitamin for the healthy development of nervous system structures such as the brain and spinal cord, especially during pregnancy. Adequate folic acid intake before and during pregnancy is of great importance for brain and spinal cord development. Folic acid deficiency increases the risk of congenital diseases such as neural tube defects. Therefore, taking folic acid supplements before and during pregnancy is one of the most effective methods in preventing diseases such as Spina Bifida.
Genetic Factors
Genetic factors play an important role in the development of Spina Bifida. Individuals with a family history of Spina Bifida have a higher probability of giving birth to a child carrying this disease. Many studies confirm the familial transmission of this disease. However, it is thought that genetic factors alone do not lead to the development of Spina Bifida, and genetic predisposition together with environmental factors is effective.
Maternal Age and Diabetes
Maternal age is also one of the factors affecting the risk of Spina Bifida. In mothers aged 35 and over, the risk of giving birth to a baby with Spina Bifida increases compared to mothers at younger ages. Besides, expectant mothers who have diabetes during pregnancy also have a high risk of Spina Bifida. Diabetes can negatively affect fetal development if the mother's blood sugar is uncontrolled and can lead to disorders in spinal cord development.
Medicines and Toxins
Certain medicines used by the expectant mother during pregnancy can also increase the risk of Spina Bifida. Certain medications, especially antiepileptic drugs, can have negative effects on brain and spinal cord development. In addition, certain environmental toxins to which the expectant mother is exposed during pregnancy can increase the risk of Spina Bifida. For example, exposure to certain chemical substances or radiation can affect the development of the fetus.
Other Environmental Factors
Other environmental factors that may play a role in the development of Spina Bifida include infections, excessive alcohol consumption, smoking, and malnutrition. These factors can have negative effects on fetal development during the pregnancy process and increase the risk of Spina Bifida. Therefore, adopting healthy lifestyle habits can minimize possible risks in pregnancy.
What Are the Symptoms of Spina Bifida?
The symptoms of Spina Bifida can vary depending on the type of the disease, the level of damage in the spinal cord, and its severity. While symptoms may be mild in some cases, more serious neurological and physical problems may arise in other cases. Below, we have listed the symptoms commonly seen in individuals with Spina Bifida:
Difficulty Walking
Spina Bifida can cause losses in motor skills as the level of damage in the spinal cord increases. Especially, in the case of the vertebrae in the lower back and back region being affected, difficulties in walking may be experienced. This condition can lead to muscle weakness, balance problems, and movement restrictions in the legs. In the more serious types of Spina Bifida, individuals may have to use a wheelchair.
Muscle Weakness
Damage to the spinal cord can prevent muscles from working properly. Muscle weakness can be seen in individuals with Spina Bifida, especially in the lower body. This weakness can negatively affect the ability to move in the legs and sometimes the arms. Muscle weakness can make it difficult for the person to perform daily activities and may require physical therapy.
Loss of Bowel and Bladder Control
Spina Bifida can lead to the loss of control of bowel and bladder functions because damage to the spinal cord can affect these functions. Loss of bladder control can cause problems such as urinary incontinence or the inability to empty the bladder completely. Similarly, problems in bowel functions can lead to constipation or bowel leakage. These problems can seriously affect the quality of life if left untreated.
Sensory Losses
In some types of Spina Bifida, sensory losses can occur due to the damage to nerve endings. These losses can manifest themselves in the form of numbness or lack of sensation in various parts of the body, especially the legs and lower body. Sensory losses can also weaken a person's ability to respond to stimuli in his environment, which can create difficulties in daily life.
Learning Difficulties
Some individuals with Spina Bifida may experience learning difficulties. Developmental disorders occurring in certain regions of the brain can affect cognitive functions. This situation can cause difficulties to be experienced in school or social life. However, learning difficulties vary from person to person, and sometimes these difficulties can be alleviated with early intervention and special education.
What Are the Risk Factors for Spina Bifida?
Spina Bifida can emerge with the interaction of various genetic and environmental factors. The risk of developing this congenital disease may be higher in some individuals. Some known risk factors for Spina Bifida are as follows:
Family History of Spina Bifida
Spina Bifida can be a disease in which genetic factors are effective. The risk of this disease being seen is higher in the children of individuals who have previously experienced a case of Spina Bifida in the family. If there is more than one case of Spina Bifida in a family, the probability of this disease being seen in subsequent generations may increase. Although how genetic transmission occurs is not fully understood, it is recommended that individuals with a family history of the disease be careful.
Folic Acid Deficiency
Folic acid is a type of B vitamin that helps the body produce healthy cells. Adequate folic acid intake, especially before pregnancy and during the pregnancy process, can reduce the risk of congenital disorders such as Spina Bifida. Folic acid deficiency can prevent the nervous system from developing properly, and this situation can increase the probability of congenital diseases such as Spina Bifida emerging. It is recommended that women planning a pregnancy take folic acid supplements.
Young or Advanced Maternal Age
The age of the expectant mother can also play a role in the development of Spina Bifida. In women experiencing a pregnancy at a young age (especially under 18) or at an advanced age (35 and over), the risk of congenital diseases being seen may increase. While pregnancy at a young age can increase complications due to genetic factors and health problems, in pregnancy at an advanced age, the rate of chromosomal disorders and congenital disorders can increase. Therefore, it is important for women planning to become pregnant to have health monitoring according to their age.
Diabetes
Diabetes, especially uncontrolled diabetes, is an important factor increasing the risk of developing congenital diseases such as Spina Bifida. High blood sugar can negatively affect fetal development and lead to nervous system disorders. Women with diabetes should bring their blood sugar under control before planning a pregnancy and manage the pregnancy process according to their doctor's recommendations.
Use of Certain Medications (For Example, Epilepsy Medications)
The use of certain medications during pregnancy can increase the risk of Spina Bifida. Certain medications used especially in the treatment of epilepsy can increase the probability of congenital diseases being seen. Certain medications such as anticonvulsant drugs (epilepsy drugs) can prevent the nervous system development of the fetus, and this situation can lead to congenital defects such as Spina Bifida. It is important to review the use of these medications before pregnancy and talk about alternative treatment options with the doctor.
Obesity
The mother being overweight or obesity is also one of the risk factors for Spina Bifida. Obesity can negatively affect fetal development by increasing inflammation in the body and raise the risk of congenital diseases occurring. Being at a healthy weight plays an important role in the prevention of diseases such as Spina Bifida.
Malnutrition and Other Vitamin Deficiencies
General nutritional status also plays an important role in the development of Spina Bifida. Apart from folic acid, vitamin and mineral deficiencies can also affect fetal development. Insufficiency of vitamin A, vitamin D, zinc, and other nutrients can prevent nervous system development and increase the risk of congenital diseases. Since malnutrition can lead to serious health problems for the mother and baby, a balanced and healthy nutrition program should be followed during pregnancy.
Environmental Factors
Environmental factors can also affect the risk of Spina Bifida. Being exposed to harmful chemicals, especially during pregnancy, can increase the probability of Spina Bifida developing. Being exposed to chemical substances, toxins, radiation, or environmental pollutants can negatively affect the development of the fetus. Expectant mothers should be careful against environmental factors and avoid harmful substances throughout pregnancy.
Alcohol and Smoking Use
Alcohol and smoking use are important environmental factors that increase the risk of congenital diseases such as Spina Bifida. Smoking and consuming alcohol can prevent the healthy development of the fetus, especially disrupt spinal cord development, and increase the probability of congenital diseases emerging. Avoiding alcohol and smoking use before and during pregnancy carries great importance.
How Is Spina Bifida Diagnosed?
The diagnosis of Spina Bifida is generally made with prenatal tests, but it can also be confirmed with various methods after birth.
Prenatal Tests
- Ultrasonography: An ultrasound performed in the early periods of pregnancy checks whether there is any opening or abnormality in the spine. This test can also help detect other complications related to the brain and spinal cord.
- Blood Tests: The alpha-fetoprotein (AFP) test performed in pregnancy can be an indicator of neural tube defects. High AFP levels can increase the risk of Spina Bifida.
- Genetic Screening: If there is a family history or a history of Spina Bifida in previous pregnancies, genetic screening can be performed.
Postnatal Tests
- Physical Examination: After the baby is born, the spine and nervous system are examined. If there is a protruding cyst or opening, Spina Bifida may be suspected.
- Neurological Evaluation: The baby is evaluated in terms of neurological symptoms such as motor skills and muscle tone. The severity of nervous system damage is determined.
- Imaging Methods: Tests such as magnetic resonance imaging (MRI) and computed tomography (CT) are used to examine the damage in the spinal cord and other complications.
How Is Spina Bifida Treated?
Spina Bifida treatment varies depending on the type and severity of the disease. Treatment can generally include surgical interventions, physical therapy, and lifestyle changes.
Spina Bifida treatment is personalized according to the type and severity of the disease. Treatment methods generally include surgical interventions, physical therapy, and lifestyle changes. The main methods used in Spina Bifida treatment:
Surgical Intervention
One of the most common methods in Spina Bifida treatment is surgical intervention. These operations can be performed in the prenatal and postnatal periods:
- Prenatal Surgery: This type of surgical intervention is performed while the baby is in the womb. The protruding parts of the spinal cord are put back into place with surgery, and the prevention of nerve damage is ensured. However, this procedure is not applied in every case because it can carry certain risks.
- Postnatal Surgery: After the baby is born, especially in serious types like myelomeningocele, the protruding parts are repaired with surgical intervention. Early surgical intervention can help prevent long-term complications.
Physical Therapy and Exercise
Physical therapy in individuals with Spina Bifida is a treatment method aimed at eliminating muscle weakness and movement difficulties. Physical therapists recommend exercises that will develop the individual's motor skills. This treatment is important to improve walking and balance problems and increase muscle tone.
Lifestyle Changes and Supportive Treatment
- Bladder and Bowel Control: Bladder and bowel problems are common in individuals with Spina Bifida. Catheterization, bowel programs, or medications can be recommended for this.
- Orthopedic Support: Orthopedic problems such as scoliosis can develop. In this case, ensuring that the condition is brought under control with supportive devices or appropriate treatment is provided.
Other Treatment Methods
- Latex Allergy Management: Latex allergy can be common in people with Spina Bifida. In this case, avoiding products containing latex is recommended.
- Hydrocephalus Treatment: A ventriculoperitoneal shunt may need to be installed to prevent fluid accumulation in individuals developing hydrocephalus.
Spina Bifida treatment generally requires a multidisciplinary approach. Doctors, physiotherapists, psychologists, and other specialists work together to aim to increase the patient's quality of life.
How Is Spina Bifida Surgery Performed?
Spina Bifida surgery is a surgical procedure aiming to close the opening in the spinal cord. It is generally performed shortly after birth, and early intervention can reduce neurological damage.
Postnatal Surgery
This surgery performed after the baby is born aims to close the opening in the spinal cord. Intervention performed early prevents the nerves from protruding outward and minimizes neurological damage.
Prenatal Surgery
In some cases, surgical intervention performed in the womb before the baby is born can also be in question. This method provides early intervention to reduce nerve damage, but it has risks and is not applied in every case.
Post-Surgery Care
After surgery, babies are monitored with physical therapy and supportive treatments. This process helps recovery and the development of motor skills.
Spina Bifida surgery can provide significant improvements with early intervention and increase the quality of life.
Prenatal Surgery Treatment
In some cases, babies with Spina Bifida can be treated with surgical intervention before they are born. This surgical procedure performed before birth is done while the fetus is in the womb and can help prevent brain damage. This intervention tries to prevent nerve damage and the accumulation of brain fluid that may be experienced during birth by closing the opening in the spinal cord. Early intervention can play an important role, especially in preventing serious neurological problems. However, such surgery has risks, and suitability assessment for each case must be made by specialists.
Spina Bifida Surgery in Newborns
Spina Bifida surgery in newborn babies is generally performed within the first few days after birth. This surgical intervention aims to prevent the accumulation of brain fluid and prevent the spinal cord from protruding by closing the opening in the spinal cord. This procedure performed early contributes positively to the development of the baby's nervous system and motor functions by reducing neurological damage. A successful surgery can increase the quality of life and leads to a lower risk of complications in the long term.
Other Surgeries for Spina Bifida
In more complex types of Spina Bifida such as myelomeningocele, simply closing the opening in the spinal cord may not be sufficient. In such conditions, fluid drainage can be performed to prevent the accumulation of brain fluid, or other surgical interventions that will affect the spinal cord may be required. These procedures are aimed at reducing the pressure in the brain and preventing the nerves from suffering further damage, and they are generally performed for the purpose of long-term recovery and increasing the quality of life. In addition, shunts used in draining brain fluid can prevent the patient from needing further surgical interventions in later years.
Spina Bifida Physical Therapy Exercises
Physical therapy plays an important role in increasing the quality of life of individuals with Spina Bifida. This treatment is applied especially to increase mobility and prevent muscle weakness. Physical therapy exercises can help strengthen muscles, increase joint mobility, and reduce balance problems. In addition, these exercises also help regulate body position and correct posture disorders. Regular physical therapy can ensure that individuals with Spina Bifida become more independent and perform daily life activities more comfortably.