Introduction: Spina Bifida—A Multidisciplinary Perspective

Major Points and Findings

1. Nature of Spina Bifida: Spina bifida is the most common birth defect affecting the central nervous system (CNS). It is often described as the most intricate birth defect that is compatible with survival. Due to its complexity, the diagnosis and treatment of infants with spina bifida span from before birth to adulthood, involving multiple disciplines.
2. Research Overview: Over the past decade, research on spina bifida has expanded across various domains. The article aims to review this research to promote integration and awareness across disciplines involved with spina bifida and to increase awareness of contemporary research and treatment strategies for other developmental disabilities.
3. Treatment Approaches: The article emphasizes the evolution of treatment approaches and healthcare outcomes for children and adults with spina bifida over the last two decades. There's a call for multicenter studies to address health, psychosocial, and education intervention issues affecting people with spina bifida.
4. Neurodevelopmental Disorder: Spina bifida is a neurogenetic disorder with a multifaceted etiology involving both genetic and environmental factors. The most common form, myelomeningocele, affects the brain with phenotypic features that involve cognition, behavior, and adaptation. Despite the complexities, intellectual disabilities are infrequent, and outcomes often involve strengths and weaknesses in cognitive, academic, behavioral, and adaptive skills.
5. Public Perception: The public often perceives spina bifida as an orthopedic disorder due to visible ambulation difficulties. However, many with spina bifida exhibit strengths in language and social skills. Most individuals with spina bifida myelomeningocele have congenital brain malformations and hydrocephalus.
6. Epidemiology: The prevalence of spina bifida is declining in North America and Western Europe due to dietary fortification and advanced prenatal diagnosis. However, the exact prevalence is challenging to determine due to factors like elective terminations after prenatal diagnosis. Despite the decline, spina bifida remains a prevalent congenital birth defect, especially in other parts of the world.
7. Heterogeneity of Spina Bifida: Spina bifida is a heterogeneous disorder with multiple sources of phenotypic variability. It includes various forms like myelomeningocele, meningocele, lipomyelomeningocele, and occulta. The level of the spinal lesion in spina bifida affects function, often leading to impairment of the lower extremities.