Spina Bifida: Research Activities and Scientific Advances

Through its intramural and extramural organizational units, the NICHD supports and conducts a broad range of research on spina bifida.

Institute Activities and Advances

NICHD-supported scientists are investigating genetic, neurological, and environmental variables that influence neurobehavioral outcomes for children with spina bifida; assessing spina bifida's effects on physical and cognitive development in early childhood; developing new diagnostic ultrasound techniques; and studying the advantages of in utero (in the uterus) spinal cord repair for infants with spina bifida.

The Pregnancy and Perinatology Branch (PPB) supports research into the detection and treatment of spina bifida. Most prominently, PPB–supported researchers have validated positive outcomes from in utero surgery to repair the most severe cases of spina bifida, myelomeningocele. She below for details. In addition, studies to develop new techniques for diagnosing spina bifida before birth are carried out with PPB support.

The Intellectual and Developmental Disabilities Branch supports an extensive body of research evaluating the cognitive, motor, and social development of people with spina bifida. These studies examine development across infancy, childhood, and adolescence. NICHD-supported scientists also evaluate specific interventions to stimulate motor skills, such as walking in infancy and the toddler years; examine the long-term effects of spina bifida on the ability to learn; and assess the impact of spina bifida on forming and maintaining relationships in early adolescence.

These programs are complemented by a focus on genetic risk, patterns of embryonic development, and prenatal nutritional status in other areas of the institute. For instance, the intramural Program in Genomics of Differentiation uses zebrafish to investigate patterns of genes in embryonic development.

Human genetics is the focus of research supported by the Developmental Biology and Structural Variation Branch (DBSVB). Researchers supported by the DBSVB investigate the specific genetic activity that drives the development and growth of the fetus, in normal conditions and when the neural tube fails to form completely.

Through its Division of Intramural Population Health Research (DIPHR), the NICHD also conducts research to understand how nutritional and other interventions might prevent neural tube defects such as spina bifida. For example, with institutions in Ireland, where neural tube defects are relatively common, researchers are collaborating to identify risk factors for spina bifida,  such as having low levels of vitamin B during pregnancy.

Other Activities and Advances

To achieve its goals for spina bifida research, the NICHD conducts and supports a variety of activities. Some of these activities are managed through the components listed above, while others are part of NIH-wide or collaborative efforts in which the NICHD participates. Examples are listed below:

  • The Birth Defects Research Group, led by the Epidemiology Branch within DIPHR, is a multicenter, multidisciplinary group of collaborating scientists that investigates the etiology of birth defects, particularly neural tube defects. Collaborating institutions include the NICHD; the National Human Genome Research Institute; the Health Research Board of Ireland; and the Department of Biochemistry, Trinity College, Dublin.
  • The NICHD’s PPB initiated the Maternal-Fetal Surgery Network to understand if surgery done in utero was comparable to standard post-natal surgery. The primary study in the Network is the Management of Myelomeningocele Study (MOMS). Results from the study showed that children with myelomeningocele who had received in utero surgery between weeks 19 and 25 of gestation were less likely by one-third to require a ventriculo-peritoneal shunt or to die. Surgery also reduced by one-third the presence of hindbrain herniation and doubled the number of children who could walk independently; however, there were significant complications, including dramatically higher ratesof preterm birth. The results of the study were so positive that a clinical trials organization named MOMS the “Clinical Trial of the Year” in 2012; visit http://www.nichd.nih.gov/news/releases/Pages/052312-MOMS.aspx for more information.
  • The DBSVB-supported Birth Defects Initiative and Birth Defects Working Group represent a concerted effort to support research on birth defects, including neural tube defects such as spina bifida. The Initiative is co-funded by other NIH Institutes and includes P01, R01, and K projects.
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