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Brain malformations and cognitive performance in spina bifida.

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Spina bifida aperta (SBA) is linked to more brain malformations and lower cognitive function than spina bifida occulta (SBO). Specific brain abnormalities correlate with impaired cognitive abilities in SBA patients.

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Area of Science:

  • Neuroscience
  • Radiology
  • Developmental Biology

Background:

  • Spina bifida is a complex birth defect with varying clinical presentations.
  • Understanding the radiological features and their cognitive correlates is crucial for patient management.
  • Distinguishing between spina bifida aperta (SBA) and spina bifida occulta (SBO) is important for prognosis.

Purpose of the Study:

  • To systematically characterize radiological features in patients with spina bifida.
  • To investigate the relationship between radiological findings and cognitive function.
  • To compare these features and outcomes between SBA and SBO.

Main Methods:

  • Retrospective study of 265 patients with spina bifida (SBA n=206, SBO n=59).
  • Radiological phenotype assessed via MRI in 230 patients.
  • Cognitive function evaluated using KABC or WISC-IV/WAIS-IV in 126 patients.

Main Results:

  • Brain malformations were consistently present in SBA but rare in SBO.
  • Common malformations in SBA included abnormal corpus callosum (69%), hypoplastic pons (50%), and hypoplastic mesencephalon (20%).
  • Cognitive total IQ scores were below average in 44-49% of SBA patients, versus average or above in SBO patients. Stenogyria, pons, and mesencephalon hypoplasia correlated with lower IQ and verbal comprehension.

Conclusions:

  • Brain malformations are more frequent in SBA than SBO, correlating with cognitive impairments.
  • Cognitive deficits, including verbal competence, perceptual reasoning, and working memory, are more prevalent in SBA.
  • Findings highlight the association between specific brain abnormalities (hydrocephalus, stenogyria, midbrain, corpus callosum) and lower cognitive function, impacting prenatal counseling.