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13/05/2024

Spina Bifida is Incomplete Closing of the Spine

Spina bifida (SB) [विभाजित रीढ़] is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, meningocele, and myelomeningocele. Meningocele and myelomeningocele may be grouped as spina bifida cystica. The most common location is the lower back, but in rare cases, it may be in the middle back or neck. Rates of other types of spina bifida vary significantly by country, from 0.1 to 5 per 1,000 births. On average, in developed countries, including the United States, it occurs in about 0.4 per 1,000 births. In India, it affects about 1.9 per 1,000 births. Europeans are at higher risk compared to Africans.

Meaning of Spina bifida

Spina bifida is a medical term that refers to a type of neural tube defect, a birth defect where the spine and spinal cord do not form properly during early fetal development. The term “spina bifida” comes from Latin: “spina” means “spine,” and “bifida” means “split” or “divided.” This condition can lead to varying degrees of damage to the spinal cord and nerves, causing a range of physical and sometimes cognitive disabilities, depending on the severity and location of the defect.

Understanding What Is Spina Bifida in ...
Spina bifida is a medical term that refers to a type of neural tube defect, a birth defect where the spine and spinal cord do not form properly during early fetal development.

Types of Spina bifida

Spina bifida, a type of neural tube defect, comes in several forms, each with distinct characteristics and severity. Here’s an overview of the main types:

Spina Bifida Occulta

This is the mildest form of spina bifida and often goes unnoticed because it typically doesn’t cause any symptoms or significant disability. In spina bifida occulta, the spinal cord and nerves are intact, but there is a small gap or defect in the vertebrae. The term “occulta” means “hidden,” indicating that this form is often discovered incidentally during imaging tests like X-rays or MRIs for unrelated reasons. Most individuals with spina bifida occulta do not require treatment, but in some cases, it can be associated with minor symptoms like back pain.

Meningocele

In this form of spina bifida, there’s a gap in the spine where the protective membranes (meninges) that cover the spinal cord protrude through the opening, forming a sac or cyst. However, the spinal cord remains within the spinal canal, and there is usually little or no nerve damage. Although meningocele can cause fewer complications than myelomeningocele, it may still require surgical correction to prevent infection and address other associated issues. The degree of disability varies based on the location and size of the meningocele.

Myelomeningocele (or Meningomyelocele)

This is the most severe and common form of spina bifida. In myelomeningocele, both the spinal cord and the meninges protrude through the open vertebrae, forming a sac or cyst on the infant’s back. This protrusion exposes the spinal cord and nerves to damage, leading to significant neurological and physical impairments. Individuals with myelomeningocele often have muscle weakness or paralysis, loss of sensation, bladder and bowel control issues, and orthopedic problems. Additionally, they may face complications like hydrocephalus (excess fluid in the brain), requiring surgical intervention. Treatment typically involves surgery to close the opening shortly after birth, followed by ongoing care and therapy to address related issues.

These types of spina bifida differ in severity and impact on health, and treatment approaches vary depending on the type, location, and associated complications. Early diagnosis and management are crucial for improving outcomes for individuals with spina bifida.

Symptoms of Spina bifida

The symptoms of spina bifida vary widely depending on the type, location, and severity of the spinal defect. Here’s a breakdown of symptoms typically associated with each type of spina bifida:

Spina Bifida Occulta

  • This is the mildest form of spina bifida and often goes undetected due to its minimal or absent symptoms. However, some individuals might show subtle signs, such as:
    • A small dimple, birthmark, or tuft of hair on the lower back.
    • An area of abnormal pigmentation or a lipoma (fatty growth).
  • Generally, spina bifida occulta does not cause significant physical or neurological symptoms, but in rare cases, it might lead to tethered cord syndrome, which can cause back pain, leg weakness, or bowel/bladder issues.

Meningocele

  • Meningocele involves a protruding sac or cyst through a spinal opening, containing spinal fluid but typically not the spinal cord or nerves. Symptoms can include:
    • A visible sac or cyst on the back, covered by skin.
    • Some degree of neurological impairment, though generally less severe than myelomeningocele.
  • Depending on the location, it can lead to minor physical disabilities, such as muscle weakness or other musculoskeletal issues.

Myelomeningocele (or Meningomyelocele)

  • This is the most severe form of spina bifida and is often accompanied by significant symptoms, such as:
    • A visible protruding sac on the back containing the spinal cord, nerves, and spinal fluid. The sac may be open or covered with a thin membrane.
    • Muscle weakness or paralysis in the legs or lower body, depending on the location of the defect.
    • Loss of sensation in the lower limbs.
    • Orthopedic issues, such as clubfoot, hip dislocation, or scoliosis.
    • Bowel and bladder dysfunction, leading to incontinence or other related issues.
    • Hydrocephalus (excess fluid in the brain), can cause increased head size, irritability, seizures, and developmental delays.
  • Additional neurological problems, such as Chiari malformation (where part of the brain is displaced into the spinal canal), can also be associated with myelomeningocele.

In summary, the symptoms of spina bifida vary greatly. While spina bifida occulta may present no significant symptoms, myelomeningocele can lead to severe neurological and physical disabilities. Early diagnosis and intervention are key to managing symptoms and improving the quality of life for those affected by spina bifida.

Causes of Spina bifida

Spina bifida, a type of neural tube defect, has complex causes involving a combination of genetic, environmental, and possibly other unknown factors. Understanding the causes of spina bifida helps guide prevention strategies and inform treatment approaches. Here’s a detailed look at the known and suspected causes:

Genetic Factors

  • Family History: A family history of spina bifida or other neural tube defects can increase the risk of having a child with the condition. This suggests that certain genetic variations or predispositions play a role in its development.
  • Specific Genes: Studies have identified several genes involved in neural tube development that may contribute to spina bifida. Mutations or polymorphisms in these genes could disrupt the normal closure of the neural tube during embryonic development.

Environmental Factors

  • Folic Acid Deficiency: A well-established cause of spina bifida is a deficiency in folic acid (vitamin B9) during early pregnancy. Folic acid is crucial for cell division and neural tube closure, so inadequate levels can lead to defects like spina bifida.
  • Medications: Certain medications, particularly anti-seizure drugs like valproic acid and carbamazepine, are known to increase the risk of spina bifida. These drugs can interfere with folic acid metabolism or neural tube development.
  • Maternal Diabetes: Pregnant women with poorly controlled diabetes are at a higher risk of having a child with spina bifida. High blood glucose levels can negatively affect fetal development.
  • Maternal Obesity: Obesity in mothers is also linked to a higher risk of neural tube defects, including spina bifida. The mechanisms are not fully understood, but they may involve metabolic or hormonal factors.
  • Alcohol and Drug Use: Alcohol and certain drugs can harm fetal development and are associated with a higher risk of neural tube defects.

Other Factors

  • Maternal Age: Advanced maternal age has been associated with an increased risk of neural tube defects, though the exact reasons are not well understood.
  • Ethnicity: Some studies suggest that certain ethnic groups, such as Hispanics, may have a higher incidence of spina bifida, possibly due to genetic and dietary factors.
  • Environmental Exposures: Exposure to certain chemicals or pollutants during pregnancy may increase the risk of spina bifida, though more research is needed to understand these links.

Conclusion

Spina bifida results from a complex interplay of genetic and environmental factors. While some risk factors, like family history and ethnicity, cannot be changed, others, such as folic acid supplementation, can be addressed to reduce the risk. Prenatal care, proper nutrition, and managing health conditions like diabetes are key strategies for minimizing the risk of spina bifida. If you’re planning to conceive or are pregnant, discussing these factors with a healthcare provider can help you take preventive measures to reduce the risk of spina bifida.

Neural Tube Defects - Types, Causes ...
Spina bifida, a type of neural tube defect, has complex causes

Diagnosis of Spina bifida

Spina bifida is diagnosed through a combination of prenatal screening tests and postnatal examinations. These diagnostic approaches help detect neural tube defects and assess their severity. Here’s a comprehensive overview of how spina bifida is diagnosed:

Prenatal Diagnosis

Prenatal screening plays a critical role in diagnosing spina bifida before birth, allowing parents and healthcare providers to prepare for potential complications and determine the best course of action.

Maternal Serum Alpha-Fetoprotein (MSAFP) Test

  • This is a blood test typically performed during the second trimester, around 16 to 18 weeks of pregnancy.
  • Alpha-fetoprotein (AFP) is a protein produced by the fetus and elevated levels in maternal blood can indicate neural tube defects like spina bifida.
  • If MSAFP levels are high, further diagnostic tests are recommended to confirm the presence of a neural tube defect.

Ultrasound (Sonogram)

  • Ultrasound is a non-invasive imaging technique that uses sound waves to create images of the fetus.
  • High-resolution ultrasounds can identify physical abnormalities in the spine, such as gaps, protrusions, or spinal cord defects, indicative of spina bifida.
  • Ultrasound can also detect associated conditions like hydrocephalus, which is common in severe cases of spina bifida.

Amniocentesis

  • This procedure involves inserting a needle through the mother’s abdomen to extract a small amount of amniotic fluid for analysis.
  • Elevated levels of AFP in the amniotic fluid can confirm a diagnosis of spina bifida.
  • Amniocentesis is typically done if the MSAFP test or ultrasound results suggest a neural tube defect.

Magnetic Resonance Imaging (MRI)

  • In some cases, fetal MRI may be used to provide more detailed images of the fetal spine and brain.
  • MRI can help confirm the diagnosis and provide information on the extent of the defect and associated abnormalities, such as Chiari malformation.

Postnatal Diagnosis

If spina bifida is not diagnosed prenatally, it may be detected at birth or shortly thereafter through physical examination and imaging tests.

Physical Examination

  • A thorough examination of the newborn can reveal visible signs of spina bifida, such as a protruding sac on the back (in cases of meningocele or myelomeningocele).
  • Signs of spina bifida occulta might be more subtle, like a dimple, tuft of hair, or birthmark on the lower back.

Imaging Studies

  • If spina bifida is suspected after birth, imaging studies such as X-rays, ultrasound, MRI, or computed tomography (CT) scans can confirm the diagnosis and evaluate the extent of the spinal defect.
  • These studies can also help assess the impact on the spinal cord and nerves.

Conclusion

Diagnosing spina bifida involves a combination of prenatal screening tests and postnatal evaluations. Prenatal diagnosis allows for early intervention and preparation, while postnatal diagnosis focuses on confirming the condition and understanding its severity. If you suspect spina bifida or have a family history of neural tube defects, consulting with a healthcare provider or genetic counselor can guide you through the diagnostic process and inform future steps.

Prevention of Spina bifida

Preventing spina bifida involves a combination of prenatal care, nutritional support, and risk factor management. While not all cases can be prevented, certain measures can significantly reduce the risk of spina bifida and other neural tube defects. Here are key strategies for prevention:

Folic Acid Supplementation

  • Importance of Folic Acid: Folic acid (vitamin B9) is crucial for DNA synthesis and cell division, which are essential during early fetal development. Adequate levels of folic acid can help ensure proper neural tube closure.
  • Daily Supplementation: To reduce the risk of spina bifida, women who are planning to conceive, or are of childbearing age, should take a daily folic acid supplement of at least 400 micrograms (mcg). This supplementation should continue through the first trimester of pregnancy, as neural tube development occurs early in gestation.
  • High-Risk Cases: Women with a previous pregnancy involving a neural tube defect or certain medical conditions (like diabetes or epilepsy) may be advised to take higher doses of folic acid, typically under medical supervision.

Diet and Nutrition

  • Folic Acid-Rich Foods: In addition to supplementation, consuming foods rich in folic acid can contribute to adequate levels. These include leafy green vegetables (like spinach and kale), citrus fruits, beans, and fortified foods (such as cereals, bread, and pasta).
  • Balanced Diet: A well-balanced diet with a variety of nutrients supports overall health during pregnancy, which can indirectly contribute to reducing the risk of neural tube defects.

Prenatal Care and Health Management

  • Regular Prenatal Visits: Early and consistent prenatal care allows healthcare providers to monitor fetal development and identify any risk factors for neural tube defects.
  • Managing Existing Health Conditions: Women with conditions like diabetes or obesity should work with healthcare providers to manage these conditions, as they can increase the risk of spina bifida.
  • Medication Review: Some medications, especially anti-seizure drugs, can increase the risk of neural tube defects. Women taking these medications should consult with their healthcare provider about alternative options or dosage adjustments if they are planning to conceive.

Avoiding Harmful Substances

  • Alcohol and Drugs: Pregnant women should avoid alcohol and recreational drugs, as these can increase the risk of fetal abnormalities, including neural tube defects.
  • Limiting Harmful Exposures: Avoiding exposure to harmful chemicals, pollutants, or radiation can also reduce risk.

Genetic Counseling

  • Family History and Genetic Risk: If there’s a family history of neural tube defects, genetic counseling can help assess the risk and guide preventive strategies.
  • Preconception Counseling: Women considering pregnancy can benefit from preconception counseling to identify risk factors and develop a plan for a healthy pregnancy.

Conclusion

Although spina bifida cannot be entirely prevented, following these preventive measures can significantly reduce the risk. The most critical factor is ensuring adequate folic acid levels before and during early pregnancy. A proactive approach that includes prenatal care, proper nutrition, health management, and avoidance of harmful substances can help create a healthier environment for fetal development. If you have specific concerns or risk factors, consulting with a healthcare provider is recommended to determine the best preventive strategy.

Treatment for Spina bifida

The treatment for spina bifida varies depending on the type and severity of the condition, as well as the associated complications. Treatments range from surgical interventions to ongoing supportive care and therapy. Here’s a detailed overview of the best treatments for spina bifida:

Prenatal Treatments

In some cases, prenatal treatment is recommended to reduce the severity of spina bifida and improve outcomes.

Fetal Surgery

  • This is a specialized procedure in which a surgical team opens the uterus and repairs the spina bifida defect in the fetus before birth, typically between 19 and 26 weeks of pregnancy.
  • Fetal surgery has shown benefits in reducing the risk of hydrocephalus, improving mobility, and decreasing the need for a shunt to manage fluid buildup in the brain.
  • This procedure carries risks, such as preterm birth, and is generally considered for severe cases of spina bifida.

Postnatal Treatments

After birth, treatments focus on addressing the specific complications and supporting the overall health and development of the child.

Neonatal Surgery

  • If spina bifida is not treated prenatally, surgery is usually required soon after birth to close the defect and minimize the risk of infection or further nerve damage.
  • Early surgical intervention can also help reduce other complications, such as hydrocephalus.

Shunt Placement for Hydrocephalus

  • Hydrocephalus is a common complication of severe spina bifida, requiring surgical placement of a shunt to drain excess cerebrospinal fluid from the brain.
  • Shunts may require ongoing monitoring and potential revisions if they become blocked or malfunction.

Orthopedic Interventions

  • Children with spina bifida often have musculoskeletal issues, such as clubfoot, hip dislocation, or scoliosis.
  • Orthopedic treatments may include braces, casting, surgery, or physical therapy to improve mobility and correct deformities.

Urological Management

  • Bladder and bowel dysfunction are common in spina bifida. Treatment may include intermittent catheterization, medications to manage bladder function or surgery.
  • Bowel management strategies might involve dietary changes, medications, or other interventions to ensure proper bowel function.

Physical and Occupational Therapy

  • Physical therapy helps improve muscle strength, coordination, and mobility.
  • Occupational therapy assists with fine motor skills and activities of daily living, promoting independence and quality of life.

Educational and Developmental Support

  • Children with spina bifida may require special education services, speech therapy, or other developmental support to address learning or communication challenges.
  • Early intervention and individualized education plans (IEPs) can help ensure appropriate educational support.

Psychological and Social Support

  • Living with spina bifida can present emotional and social challenges. Psychological support, including counseling and support groups, can benefit children and families.
  • Social services may assist with accessing resources and navigating healthcare and education systems.

Conclusion

The best treatments for spina bifida depend on the type and severity of the condition and the associated complications. A multidisciplinary approach is often necessary, involving medical, surgical, and therapeutic interventions to support the health and development of individuals with spina bifida. Early diagnosis and intervention can lead to better outcomes and improved quality of life. Working closely with healthcare providers and specialists is crucial to developing a comprehensive treatment plan.

Minimally Invasive Spina Bifida Surgery ...
Spina bifida is not treated prenatally, surgery is usually required soon after birth

Ayurveda treatment for Spina bifida

Ayurveda is a traditional system of medicine that originated in India and focuses on balancing the body, mind, and spirit to promote health and wellness. It incorporates herbal remedies, dietary changes, yoga, meditation, and lifestyle adjustments to treat a variety of conditions. However, it’s important to note that Ayurveda may not offer direct or curative treatment for congenital conditions like spina bifida, which result from a structural defect in the spinal cord and vertebrae.

SB typically requires conventional medical and surgical interventions to address the physical and neurological complications associated with it. While Ayurveda can be used to complement traditional treatments, any use of Ayurveda in managing SB should be done under the guidance of a healthcare professional with expertise in both Ayurvedic and modern medical practices.

Here are some ways Ayurveda can potentially support individuals with spina bifida:

Herbal Remedies

Certain Ayurvedic herbs are believed to support nerve function, reduce inflammation, and promote overall health. However, these should not replace conventional treatments, and their use must be carefully considered for safety and efficacy.

  • Ashwagandha (Withania somnifera): Known for its adaptogenic properties, it is believed to reduce stress and inflammation.
  • Brahmi (Bacopa monnieri): Traditionally used to support brain function and improve memory.
  • Shatavari (Asparagus racemosus): Often used to promote vitality and immune health.

Diet and Nutrition

Ayurveda emphasizes a balanced diet tailored to an individual’s body type (dosha) to support overall health.

  • Tridosha Balancing Diet: A diet designed to balance the three doshas (Vata, Pitta, Kapha), focusing on whole foods, vegetables, fruits, and herbs.
  • Anti-Inflammatory Foods: Including foods that may reduce inflammation, such as turmeric, ginger, and leafy greens.

Yoga and Meditation

Yoga and meditation can improve flexibility, muscle strength, and mental well-being, which can be beneficial for individuals with SB.

  • Gentle Yoga: Practices that focus on gentle stretching and strengthening, tailored to the individual’s abilities and limitations.
  • Pranayama (Breath Control): Techniques to promote relaxation and improve respiratory health.
  • Meditation and Mindfulness: These practices can help reduce stress and improve mental focus.

Lifestyle and Daily Routines

Ayurveda often recommends lifestyle adjustments to promote balance and health.

  • Daily Routines (Dinacharya): Establishing consistent daily routines for sleep, meals, and activities.
  • Abhyanga (Oil Massage): Using specific oils for massage to promote relaxation and reduce muscle tension.

Key Considerations

While Ayurvedic treatments can offer supportive benefits, they should not be considered a replacement for conventional medical treatments required for SB, especially in severe cases involving surgical correction and specialized medical care. 

Conclusion

Spina bifida (SB) is a complex neural tube defect characterized by incomplete development of the spinal cord and vertebrae, leading to a range of physical and neurological complications. It can vary in severity, with myelomeningocele being the most severe form. Early diagnosis through prenatal screening and postnatal evaluation is critical to planning appropriate interventions and supportive care.

The treatment for SB often requires a multidisciplinary approach, encompassing surgical repair, physical and occupational therapy, urological management, and educational support. Advances in prenatal surgery and postnatal care have significantly improved outcomes for individuals with SB.

While Ayurveda and other complementary therapies may offer supportive benefits in terms of general health and well-being, they should not replace conventional medical treatments. It’s essential to consult with healthcare professionals to create a comprehensive and safe treatment plan.

Overall, living with SB presents challenges, but with early intervention, ongoing care, and a supportive environment, individuals with SB can lead fulfilling lives. Continued research and innovation in medical treatment are essential to improving the quality of life and outcomes for those affected by SB.

Frequently Asked Questions

Here are some frequently asked questions (FAQs) about spina bifida with their answers:

FAQ 1: What is Spina Bifida (SB)?

Answer: SB is a type of neural tube defect that occurs when the spinal cord and vertebrae don’t develop properly during early fetal development. It leads to varying degrees of spinal cord and nerve damage, resulting in a range of physical and neurological complications.

FAQ 2: What are the types of SB?

Answer: There are three main types of SB:

  • Spina Bifida Occulta: A mild form with a small gap in the vertebrae but no protrusion of the spinal cord or meninges. Often, it doesn’t cause significant symptoms.
  • Meningocele: A more severe form where the protective membranes (meninges) protrude through the spine, forming a sac. The spinal cord remains within the spinal canal.
  • Myelomeningocele: The most severe form where both the spinal cord and meninges protrude through the spine, leading to significant physical and neurological impairments.

FAQ 3: What causes SB?

Answer: A deficiency in folic acid during early pregnancy is a well-known risk factor. Other factors include a family history of neural tube defects, certain medications, maternal diabetes, maternal obesity, and potentially some environmental exposures.

FAQ 4: How is SB Diagnosed?

Answer: Prenatal diagnosis often involves maternal serum alpha-fetoprotein (MSAFP) testing, ultrasound, and amniocentesis. Postnatal diagnosis includes physical examination and imaging studies like X-rays, ultrasound, MRI, or CT scans.

FAQ 5: What are the symptoms of SB?

Answer: Symptoms vary depending on the type and severity of SB:

  • Spina Bifida Occulta: Often has minimal or no symptoms, though it may cause back pain in some cases.
  • Meningocele: May cause physical disabilities, but usually involves less severe neurological symptoms.
  • Myelomeningocele: This can lead to muscle weakness or paralysis, loss of sensation, orthopedic issues, bladder and bowel dysfunction, and other neurological complications.

FAQ 6: How is SB treated?

Answer: Treatment depends on the type and severity of SB. It can include:

  • Surgery: To repair the spinal defect, either prenatally or shortly after birth. 
  • Physical and Occupational Therapy: To improve mobility, muscle strength, and independence.
  • Orthopedic Interventions: To address musculoskeletal issues.
  • Urological Management: To handle bladder and bowel dysfunction.
  • Educational and Developmental Support: For learning and communication challenges.

FAQ 7: Can SB be prevented?

Answer: While not all cases can be prevented, the risk of SB can be reduced through:

  • Folic Acid Supplementation: Taking 400 micrograms (mcg) of folic acid daily before and during early pregnancy.
  • Prenatal Care: Regular check-ups and managing health conditions like diabetes.
  • Avoiding Harmful Substances: Such as alcohol, recreational drugs, and certain medications that increase risk.

FAQ 8: What is the long-term outlook for someone with SB?

Answer: The long-term outlook depends on the severity of the condition and associated complications. With early diagnosis, medical intervention, and supportive care, individuals with SB can lead fulfilling lives. Challenges may include mobility issues, bladder and bowel dysfunction, and other health complications, but a multidisciplinary approach can help manage these issues and improve quality of life.

Reference: https://en.wikipedia.org/wiki/Spina_bifida

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Comments (6)

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    1. admin says:
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  2. www.waste-Ndc.pro says:
    21/05/2024 at 9:41 am

    Wonderful blog! Do you have any tips and hins ffor aspiring writers?
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    Reply
    1. admin says:
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