Systematic Review of the Clinical and Experimental Research Assessing the Effects of Craniosynostosis on the Brain.

Although neurocognitive impairment has been considered as the main argument for the surgical treatment of craniosynostosis (CS), recent studies reported subtle deficits in neurological function even in operated patients. However, the cause of these deficits remains poorly understood. This systematic review sought to examine the impact of CS on the brain microstructure, mainly on functional connectivity, and comprehensively summarize the clinical and experimental research available on this topic. A systematic review was performed considering the publications of the last 20 years in PubMed and Web of Science, including relevant human and animal studies of the types of brain-microstructure disturbances in CS. Among the 560 papers identified, 11 were selected for analysis. Seven of those were conducted in humans and 4 in animal models. Resting-state functional magnetic resonance imaging, task-based magnetic resonance imaging, and diffusion tensor imaging were the main instruments used to investigate brain connectivity in humans. The main findings were increased connectivity of the posterior segment of cingulum gyri, reduced interconnectivity of the frontal lobes, and reduced diffusivity on diffusion tensor imaging, which were associated with hyperactivity behaviors and poorer performance on neurocognitive tests. Conversely, despite the lack of evidence of brain dysfunction in animal studies, they reported a tendency toward the development of hyperactive behaviors and impairment of neurocognitive function. Skull restriction caused by CS apparently chronically increases the intracranial pressure and produces white matter injuries. The current evidence supports the contention that an early surgical approach could minimize brain-connectivity impairment in this context.

Anterior fontanelle closure and diagnosis of non-syndromic craniosynostosis: a comparative study using computed tomography.

OBJECTIVE: Suspicion of early anterior fontanel (AF) closure is a common reason for referral to a pediatric neurosurgeon because of the suspected increased risk of developing craniosynostosis (CS) in spite of the absence of evidence in the literature. The aim of this study was to analyze the association between AF closure and the diagnosis of non-syndromic CS in Brazilian children. METHODS: An observational and case-cohort study was conducted to compare the incidence of closed AF between healthy children (group 1) and children diagnosed with non-syndromic CS (group 2) at a pediatric neurosurgery referral center. The accuracies of completely closed AF and diagnosis of CS were assessed. RESULTS: High-resolution three-dimensional reconstruction computed tomography scans were obtained for 140 children aged < 13 months, of whom 62.9% were boys and 37.1% were girls (p < 0.001). The most common types of non-syndromic CS were trigonocephaly (34, 48%) and scaphocephaly (25, 35.7%). Closed fontanel (27, 38.6%) was observed in both groups, and a sensitivity of 36.1%, specificity of 72%, the positive predictive value of 59%, and negative predictive value of 51% were observed in the patients diagnosed with CS when AF closure occurred before the age of 6 months. CONCLUSION: The results of this comparative study of AF closure and CS diagnosis suggest that early AF closure does not imply a diagnosis of CS. Pediatricians should be aware of the risk of misdiagnosis of CS in cases with a widely open AF in spite of the presence of CS.