The cerebellum plays a critical regulatory role in motor coordination, cognition, behavior, language, memory, and learning, hence overseeing a multiplicity of functions. Cerebellar development begins during early embryonic development, lasting until the first postnatal years. Particularly, the greatest increase of its volume occurs during the third trimester of pregnancy, which represents a critical period for cerebellar maturation. Preterm birth and all the related prenatal and perinatal contingencies may determine both dysmaturative and lesional events, potentially involving the developing cerebellum, and contributing to the constellation of the neuropsychiatric outcomes with several implications in setting-up clinical follow-up and early intervention.
The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H + symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in SLC25A22 gene (c.97A>G; p.Lys33Glu), as the likely cause of the disease. The phenotype of our patient and EEG recordings do not completely overlap with the phenotypes previously described, leading to a new and more complex form of disease associated with SLC25A22 variants, characterized by dyskinetic movements and oculogyric crisis.
Twin birth may represent a challenging event often associated with prematurity. We previously reported on developmental trajectories in preterm children categorized by gestational age. Based on the same study population, in this study we investigated the influence of gemellarity on the neurodevelopment of 73 twins (26.4%) and 207 singletons (73.6%), categorized into three groups according to their gestational age. The age of the achievement of developmental milestones between the three groups and the influence of preperinatal events on neurodevelopment were analyzed. An early neurodevelopmental advantage was detected in preterm twins born between 32 and 33 weeks. Environmental and nurturing factors may explain these findings.
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