What is Spina Bifida?

Types of Spina Bifida

• Spina Bifida Occulta: This is the mildest form, where the outer part of some of the vertebrae is not completely closed. In most cases, there are no visible signs or symptoms, and individuals may not even know they have it.
• Meningocele: In this type, the protective covering of the spinal cord (the meninges) pushes through the opening in the spine, creating a sac filled with cerebrospinal fluid. This sac may be visible on the back, and individuals may have mild neurological symptoms.
• Myelomeningocele: This is the most severe form of spina bifida. In this case, the spinal canal remains open along several vertebrae, allowing both the meninges and the spinal cord to protrude. This can lead to significant nerve damage and result in paralysis, muscle weakness, and other neurological problems.

Spina Bifida Symptoms

The symptoms of spina bifida can vary widely depending on the severity of the condition. They can range from mild to severe, and some individuals may not exhibit any noticeable symptoms. Common symptoms include:

• Physical Abnormalities: These may include a visible sac or bump on the back, which could contain the spinal cord or its covering (meninges), muscle weakness or paralysis in the legs, and orthopedic issues such as foot deformities.
• Neurological Symptoms: These can encompass a range of issues, including varying degrees of sensory loss, lack of muscle coordination (ataxia), and problems with bladder and bowel control.
• Hydrocephalus: Myelomeningocele, the most severe form of spina bifida, is often associated with hydrocephalus, a condition in which there is an accumulation of cerebrospinal fluid in the brain. This can lead to an enlarged head, cognitive impairments, and other neurological problems.
• Tethered Spinal Cord: In some cases, the spinal cord may become attached to surrounding tissues, limiting its movement and causing pain, weakness, and other symptoms.
• Learning and Cognitive Issues: Individuals with spina bifida, especially those with myelomeningocele, may experience learning disabilities, attention problems, and other cognitive challenges.
• Latex Allergy: People with spina bifida may have an increased risk of latex allergy, possibly due to multiple medical procedures involving latex-containing products.

When to See a Doctor?

Take a doctor's appointment if you are getting tired quickly and need to know why. If you observe the above Spina Bifida symptoms or during a blood test, your hemoglobin count has fallen.

What are the Causes of Spina Bifida?

The exact cause of spina bifida is not fully understood, but it is believed to result from a combination of genetic and environmental factors. Some potential contributing factors include:

• Genetics: There appears to be a genetic predisposition to spina bifida, meaning that individuals with a family history of the condition are at a higher risk.
• Folic Acid Deficiency: Adequate intake of folic acid (a B vitamin) before and during pregnancy is crucial for neural tube development. A deficiency in folic acid during early pregnancy has been linked to an increased risk of neural tube defects, including spina bifida.
• Environmental Factors: Certain environmental factors, such as exposure to certain medications, chemicals, or infections during pregnancy, may increase the risk of spina bifida.

What are the Risk Factors of Spina Bifida?

• Genetics: A family history of Spina Bifida or other neural tube defects increases the risk. If a close family member, such as a parent or sibling, has been affected, the chances of having a child with Spina Bifida are higher.
• Folic Acid Deficiency: Inadequate intake of folic acid, a B vitamin crucial for neural tube development, during early pregnancy is a significant risk factor. Folic acid helps prevent many neural tube defects, including Spina Bifida.
• Medications: Certain medications, such as some antiseizure medications used to treat epilepsy, can interfere with the body's ability to use or absorb folic acid. If taken during pregnancy, these medications can increase the risk.
• Medical Conditions: Maternal conditions such as diabetes, obesity, and poorly controlled phenylketonuria (PKU) can elevate the risk of Spina Bifida in the fetus.
• Ethnicity: Women of Hispanic descent are at a higher risk of having a baby with Spina Bifida than other ethnic groups. However, it can occur in any population.
• Environmental Factors: Exposure to certain environmental factors or toxins during pregnancy may increase the risk. Research into the specific environmental factors is ongoing.
• Maternal Age: Women who become pregnant at a younger or older age may have a slightly increased risk of having a baby with Spina Bifida.

What are the Complications of Spina Bifida?

• Neurological Impairments : Spina Bifida can cause damage to the spinal cord and nerves, leading to paralysis, muscle weakness, and loss of sensation in the lower body. This can impact mobility, coordination, and overall physical function.
• Orthopaedic Problems : These include scoliosis, clubfoot, hip dislocation, and joint contractures, impacting mobility and posture.
• Bladder and Bowel Dysfunction : Nerve damage can lead to urinary and fecal incontinence, frequent infections, and other related issues.
• Hydrocephalus : Severe cases can lead to a buildup of cerebrospinal fluid in the brain, causing an enlarged head and neurological problems.
• Skin Concerns : Reduced sensation and mobility can result in skin breakdown and pressure sores if not managed properly.
• Learning and Cognitive Challenges : Some individuals may experience learning disabilities, attention deficits, and cognitive issues affecting daily life and education.
• Psychosocial and Emotional Issues : Coping with Spina Bifida can lead to anxiety, depression, and low self-esteem.
• Latex Allergy : Due to frequent medical procedures, there's a risk of developing an allergy to latex.
• Tethered Spinal Cord : The spinal cord may become abnormally attached to surrounding tissues, causing pain and neurological symptoms.
• Social and Functional Limitations : Physical and cognitive limitations can affect daily activities, social interactions, and independence.
• Surgical Risks : Interventions to manage Spina Bifida can carry risks and potential complications.

Diagnosis of Spina Bifida

Prenatal Screening

• Maternal Serum Alpha-Fetoprotein (MSAFP) Test: This blood test measures the alpha-fetoprotein level in the mother's blood. Elevated levels can indicate a neural tube defect, including Spina Bifida.
• Ultrasound: An ultrasound scan performed during pregnancy can detect physical abnormalities in the developing fetus, including visible signs of Spina Bifida.

Prenatal Diagnostic Tests (if indicated):

• Amniocentesis: This invasive test involves collecting a sample of amniotic fluid around the developing fetus. It can provide more detailed information about the presence of neural tube defects, Genetic disorders, including Spina Bifida.
• Chorionic Villus Sampling (CVS): Another invasive test, CVS, involves obtaining a sample of placental tissue for genetic analysis. It can also provide information about neural tube defects.

Postnatal Diagnosis:

• Physical Examination: A physical examination of the newborn may reveal signs of Spina Bifida, such as a sac or lesion on the back.
• Imaging Studies: X-rays, ultrasound, and magnetic resonance imaging (MRI) can provide detailed images of the spine and spinal cord, helping to determine the extent and type of Spina Bifida.
• Neurological Evaluation: A neurological assessment can identify any abnormalities in motor function, reflexes, sensation, and coordination.

Normal Hemoglobin Levels:

• Men: 13.8 to 17.2 grams per deciliter (g/dL).
• Women: 12.1 to 15.1 g/dL.

The reference ranges are usually different for children due to age and developmental factors.

Treatment of Spina Bifida

Surgical Options

Surgical intervention is often required to address the physical abnormalities caused by Spina Bifida. The timing and type of surgery depend on the specific type of Spina Bifida and associated complications. Surgical procedures may include:

• Closure of the Spinal Opening: For infants born with myelomeningocele (the most severe type), surgical closure of the spinal opening is typically performed shortly after birth to prevent infection and further damage to the spinal cord.
• Tethered Cord Release: If the spinal cord becomes tethered or attached to surrounding tissues, the surgical release may be necessary to prevent neurological complications.
• Orthopaedic Surgery: Some individuals may require orthopaedic procedures to address issues like scoliosis or clubfoot.
• Hydrocephalus Treatment: Surgical shunt placement to drain excess cerebrospinal fluid from the brain may be necessary for individuals with hydrocephalus.

Medical Management:

• Mobility Aids: Assistive devices such as braces, crutches, or wheelchairs may be recommended to improve mobility and independence.
• Physical Therapy: Physical therapy helps maintain or improve muscle strength, coordination, and mobility.
• Occupational Therapy: Occupational therapy focuses on developing skills for daily living, such as dressing, feeding, and grooming.
• Urological and Bowel Management: Strategies to manage bladder and bowel function, such as catheterization or medication, are often necessary.
• Pain Management: Individuals with Spina Bifida may experience pain related to orthopaedic issues or nerve damage. Pain management techniques and medications can help alleviate discomfort.

Rehabilitation Services:

• Speech Therapy: If there are speech or communication challenges, speech therapy can help improve communication skills.
• Psychological Support: Emotional well-being is crucial. Counselling and therapy can help individuals and families cope with the challenges of Spina Bifida.

Education and Developmental Support:

• Special Education Services: Individuals with Spina Bifida may benefit from special education services tailored to their cognitive and learning needs.
• Early Intervention: Early intervention programs focus on developmental support and therapy for infants and young children.

Medications

Medications for Symptom Management: Depending on the specific symptoms and complications, medications may be prescribed to manage pain, spasticity, bladder issues, and other related problems.

Nutrition and Lifestyle

• Dietary Recommendations: A balanced diet and proper nutrition, including folic acid supplementation, are essential for overall health.
• Exercise and Physical Activity: Regular exercise can promote muscle strength, cardiovascular health, and overall well-being.

Spina Bifida Dos and Don’ts

Frequently Asked Questions