This paper reviews the physical, neural, and cognitive phenotypes of spina bifida myelomeningocele (SBM), a non-lethal neural tube defect that is the most common congenital birth defect affecting the central nervous system. After reviewing the physical and neural phenotypes, we explain how these variations affect in a principled manner variation in the cognitive phenotype of SBM. The cognitive phenotype represents a modal profile with strengths in associative, rule-based learning and weaknesses in assembled, integrative processes. This phenotype is related to core deficits in timing, attention, and movement that arise early in development because of brain malformations involving the cerebellum, midbrain, and corpus callosum. The variability of outcomes in SBM is also related to the level of spinal cord lesion, secondary effects of hydrocephalus and its treatment, and the psychosocial environment. Early interventions and comprehensive interventions that take advantage of our understanding of the modal cognitive phenotype modal profile and the variations that occur are important in helping people with SBM maximize their cognitive development, adaptive functions, and quality of life.
The cognitive phenotype of spina bifida meningomyelocele
