Spina Bifida: Symptoms, Types, Causes and Treatment

Spina bifida is one of the most recognized congenital neural tube defects, affecting thousands of individuals worldwide each year. Characterized by the incomplete closure of the backbone and membranes around the spinal cord, spina bifida presents a spectrum of symptoms, types, and challenges. Understanding its manifestations, forms, underlying causes, and available treatments is crucial for patients, families, and healthcare professionals alike. This comprehensive article explores the symptoms, classification, causes, and treatment strategies for spina bifida, drawing on recent scientific research.

Symptoms of Spina Bifida

Spina bifida can lead to a diverse range of symptoms, from subtle physical signs to profound neurological and psychological issues. The spectrum of symptoms varies greatly depending on the type and severity of the defect. Early recognition and monitoring can help mitigate long-term complications and improve quality of life.

Symptom	Description	Impacted Systems	Source(s)
Mobility Issues	Weakness, paralysis, orthopedic problems	Musculoskeletal	6, 2
Bladder/Bowel	Incontinence, neurogenic bladder/bowel	Urinary, Digestive	3, 14
Pain	Chronic, acute, or neuropathic pain	Neurological, MSK	2, 4
Skin Breakdown	Pressure sores, ulcers	Integumentary	2
Psychological	Depression, anxiety, fatigue	Mental Health	1, 4
Acute Abdomen	Atypical abdominal symptoms	Gastrointestinal	3
Hydrocephalus	Fluid on the brain, often with myelomeningocele	Neurological	6

Table 1: Key Symptoms

Common Physical Manifestations

• Mobility Impairments: Depending on the lesion's location, individuals may experience lower limb weakness, paralysis, or orthopedic deformities. Many require assistive devices, and wheelchair use is common, especially with more severe forms 2, 6.
• Bladder and Bowel Dysfunction: Neurogenic bladder and bowel are frequent, resulting in incontinence and a heightened risk of urinary tract infections (UTIs) 3, 14. Early and ongoing management is essential to prevent complications, including kidney damage.
• Pain: Almost half of adults with spina bifida report experiencing pain, ranging from musculoskeletal discomfort to neuropathic pain. Those needing mobility aids are more likely to report pain 2, 4.

Skin and Pressure Complications

• Skin Breakdown: Reduced mobility and insensitivity increase the risk of pressure ulcers and skin breakdown—over 40% of patients report such issues annually 2. This risk is heightened in wheelchair users and those with significant mobility deficits.

Neurological and Psychological Symptoms

• Hydrocephalus and Acute Abdominal Issues: Hydrocephalus (fluid accumulation in the brain) commonly co-occurs, particularly with myelomeningocele. Acute abdominal symptoms can be challenging to diagnose in spina bifida patients due to altered sensation and higher prevalence of underlying risk factors like neurogenic bladder or bowel 3, 6.
• Mental Health: Depression and anxiety are common and often under-recognized in adults with spina bifida. Up to 25–45% may experience depressive symptoms, with significant associations between mobility limitations and psychological distress 1, 4. Fatigue is also frequently reported, particularly in older adults 4.

Types of Spina Bifida

Spina bifida encompasses several distinct conditions, each with unique anatomical and clinical features. The main classification is based on whether the neural tissue is exposed (open) or covered (closed).

Type	Description	Severity/Features	Source(s)
Occulta	Hidden defect, no exposed tissue, mild symptoms	Mild, often asymptomatic	7, 9, 10
Meningocele	Meninges protrude, but spinal cord remains inside	Moderate, variable	7, 8
Myelomeningocele	Meninges + spinal cord protrude, open lesion	Severe, neurological	6, 7, 8
Myeloschisis	Open neural plate exposed, most severe	Severe, underreported	8

Table 2: Types of Spina Bifida

Spina Bifida Occulta

• Definition: The mildest and most common form, involving a small gap in the spine but no protrusion of the spinal cord or meninges. Usually asymptomatic and found incidentally, but may be associated with minor symptoms like low back pain or mild neurological deficits 7, 9, 10.
• Prevalence: Reported frequencies vary widely, partly due to inconsistent diagnostic criteria 10.

Spina Bifida Aperta (Open Spina Bifida)

• Meningocele: The meninges (protective membranes) protrude through a spinal defect, forming a fluid-filled sac. The spinal cord itself remains inside the vertebral canal. Neurological damage is usually less severe, and many patients can lead relatively normal lives after surgical repair 7, 8, 16.
• Myelomeningocele: Both the meninges and spinal cord protrude through the opening. This is the most severe and clinically significant form, often resulting in paralysis, sensory loss, and functional impairment below the lesion. It frequently co-occurs with hydrocephalus and Chiari II malformation 6, 7, 8.
• Myeloschisis: The most severe form, characterized by a completely open neural plate exposed to the environment. It is underrecognized and often misclassified as myelomeningocele 8.

Causes of Spina Bifida

Spina bifida is a complex condition arising from the interplay of genetic, environmental, and nutritional factors during early embryonic development.

Factor	Role/Description	Risk Level/Details	Source(s)
Genetic	Multiple genes implicated, high heritability	60–70% genetic component	6, 11, 13
Folic Acid Deficiency	Reduced maternal folate intake increases risk	Major modifiable risk	6
Maternal Factors	Diabetes, obesity, anticonvulsant use	Increased risk	6
Gene-Environment	Interaction of genes and environment	Complex, not fully understood	11, 13
Pathogenesis	Failure of neural tube closure, neuroinflammation	Key developmental defect	6, 7, 12

Table 3: Causes and Risk Factors

Genetic Contributions

• Heritability: Up to 60–70% of spina bifida risk is thought to be genetic, but only a small number of specific genes have been conclusively identified 6, 11.
• Identified Genes: Mutations in genes like GPR161, which regulate key developmental pathways (such as Sonic Hedgehog and Wnt signaling), have been linked to increased risk 11.
• Gene-Environment Interactions: The complexity of spina bifida arises from the interplay between susceptible genetic backgrounds and environmental exposures 11, 13.

Environmental and Maternal Factors

• Folic Acid Deficiency: Lack of folic acid around conception is a well-established and preventable risk factor. Supplementation before and during early pregnancy has been shown to significantly reduce spina bifida incidence 6.
• Other Maternal Risks: Diabetes mellitus, obesity, and use of certain anti-seizure medications during pregnancy increase risk 6.
• Pathophysiology: Spina bifida results from the incomplete closure of the neural tube during the first month of embryonic development, leading to exposed or improperly formed neural tissue. Recent animal research suggests that neuroinflammatory processes may further contribute to tissue damage in utero 12.

Treatment of Spina Bifida

Treatment of spina bifida is multidisciplinary, aiming to address immediate neonatal needs, prevent complications, and maximize the individual's functional abilities and quality of life.

Approach	Description	Goals or Outcomes	Source(s)
Surgical Repair	Closure of lesion (prenatal or postnatal)	Protect neural tissue, prevent infection	6, 16
Urological Care	Clean intermittent catheterization, antimuscarinics	Preserve kidney function, manage continence	14, 15
Orthopedic/Physical	Bracing, assistive devices, rehabilitation	Enhance mobility, independence	2, 6
Management of Complications	Hydrocephalus shunt, skin care, pain therapies	Prevent/mitigate secondary issues	6, 2, 4
Psychological	Screening, counseling, antidepressants	Address mental health, improve quality of life	1, 4
Emerging Therapies	Fetal surgery, stem cell therapy	Improve neurological outcomes	6, 18

Table 4: Treatment Approaches

Surgical and Early Interventions

• Neonatal Closure: Surgical closure of the defect, ideally within the first 24–48 hours of life, is standard for open spina bifida. This minimizes infection risk and protects neural tissue 6, 16.
• Fetal Surgery: Prenatal surgical intervention (in utero repair) for myelomeningocele has been shown to improve early neurological outcomes compared to postnatal repair, though it carries its own risks 6.
• Emerging Therapies: Experimental treatments like transamniotic stem cell therapy (TRASCET) have shown promise in animal studies, potentially offering new avenues for prenatal management in the future 18.

Urological Management

• Neurogenic Bladder: Aggressive early management with clean intermittent catheterization and antimuscarinic agents helps prevent kidney damage and improves continence 14, 15.
• Surgical Procedures: For children with persistent incontinence or bladder dysfunction, surgical options such as bladder neck suspension or creation of continent catheterizable stomas may be recommended 15.
• UTI Prevention: Early and continuous urological care, including antibiotic prophylaxis when indicated, reduces the risk of urinary tract infections and long-term kidney damage 14, 15.

Rehabilitation and Supportive Care

• Mobility and Orthopedic Care: Bracing, physical therapy, and provision of assistive devices (e.g., wheelchairs) help maximize independence and quality of life 2, 6.
• Skin and Pain Management: Regular skin checks and pressure-relief strategies are crucial to prevent ulcers. Pain management may involve medications and physical therapies 2, 4.

Psychological and Social Support

• Mental Health: Routine screening for depression, anxiety, and fatigue is important, as these are common yet underdiagnosed in spina bifida. Interventions may include counseling, medication, and support groups 1, 4.
• Social Integration: Education, vocational training, and community support enhance participation and overall well-being.

Conclusion

Spina bifida is a multifaceted condition with a wide range of manifestations and outcomes. Advances in early intervention, ongoing medical care, and surgical techniques have greatly improved the prognosis for many individuals. However, challenges remain in addressing the full spectrum of physical, neurological, and psychological complications. Continued research and a comprehensive, multidisciplinary approach are essential to optimize outcomes.

Key Points:

• Spina bifida symptoms range from mild (often undetected) to severe, affecting mobility, bladder/bowel function, skin, and psychological health 1 2 3 4 6.
• The main types are spina bifida occulta, meningocele, myelomeningocele, and myeloschisis, each with differing severity and prognosis 6 7 8 9 10.
• Causes are complex, involving genetic susceptibility, folic acid deficiency, and maternal factors such as diabetes and obesity 6 11 13.
• Early surgical repair, aggressive management of neurogenic bladder, ongoing rehabilitation, and mental health support are pillars of treatment 6 14 15.
• New therapies, such as fetal surgery and stem cell approaches, hold promise for the future 6 18.

Understanding and addressing spina bifida requires awareness, early action, and lifelong, tailored care for the best possible quality of life.