Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies

Abstract

Spina bifida is the most common congenital defect of the central nervous system which can portend lifelong disability to those afflicted. While the complete underpinnings of this disease are yet to be fully understood, there have been great advances in the genetic and molecular underpinnings of this disease. Moreover, the treatment for spina bifida has made great advancements, from surgical closure of the defect after birth to the now state-of-the-art intrauterine repair. This review will touch upon the genetics, embryology, and pathophysiology and conclude with a discussion on current therapy, as well as the first FDA-approved clinical trial utilizing stem cells as treatment for spina bifida.

Nursing Management of Patients Dealing with Spina Bifida: from the Prenatal Diagnosis to Adulthood / Nursing Intervention for the Improvement of the Impact of Urinary and Fecal Incontinence on the Quality of Life of People Dealing with Spina Bifida

“…From the anomalous vertebral fusion and the location of the lesion, it is possible to observe a variety of neurological de cits (4). Spina Bi da is one of the most complex conditions in the medical eld, as it concerns the congenital and evolutionary sphere, as well as the neurological and orthopedic one, the motor and perceptive one, the somatic and bowel one and the psychological and organic one (2). Dealing with a patient struggling with spina bi da is a multidisciplinary task.…”

“…The Spina bi da originates during the embryogenesis and derives from the failed closure of the neural tube, with a consequential split of the spine (bi da), in between the 18th and 28th embryonic day. (2) This creates aws in the vertebral arches, sometimes concerning the spinal cord as well (3). From the anomalous vertebral fusion and the location of the lesion, it is possible to observe a variety of neurological de cits (4).…”

The influence of different sugammadex doses on neural tube development in early‐stage chick embryos

“…The central nervous system (CNS) consists of the brain and spinal cord. It is descended from a precursor structure called the neural tube (NT), which develops and differentiates throughout an embryo's maturation (Hassan et al, 2022). Sequential folding, elevation, closing, and fusing of the NT along the posterior midline are the major components that allow functional isolation of non‐neuronal tissue from the NT itself (Hassan et al, 2022).…”

“…It is descended from a precursor structure called the neural tube (NT), which develops and differentiates throughout an embryo's maturation (Hassan et al, 2022). Sequential folding, elevation, closing, and fusing of the NT along the posterior midline are the major components that allow functional isolation of non‐neuronal tissue from the NT itself (Hassan et al, 2022). This process occurs between days 17 and 28 after fertilization in human beings, and any abnormality during embryogenesis can result in serious and yet the most common birth abnormalities of the CNS, known as NT defects (NTDs) (Garcia Araya, 2017; Greene & Copp, 2014; Hassan et al, 2022; Li et al, 2016).…”

Multidisciplinary Management of Children with Occult Spinal Dysraphism: A Comprehensive Journey from Birth to Adulthood

“…Differently from “open” spina bifida [ 8 , 9 ], which shows alterations present at birth and for which there have been significant advances in the genetic and molecular underpinnings of this disease [ 10 ], the time and manner in which this spontaneous deterioration manifests in OSD are unknown. There is much controversy regarding whether to perform surgery before or after the onset of such possible deterioration [ 4 , 11 ].…”