MBL2 gene polymorphisms increase the risk of adverse neurological outcome in preterm infants: a preliminary prospective study.

BACKGROUND: As described in animal models, the lectin-complement pathway is central to the propagation of ischemia-reperfusion injuries in many tissues, including the brain. Similarly, it might affect the genesis of brain damage in preterm infants. MBL2 gene single-nucleotide polymorphisms (SNPs), regulating mannose-binding lectin (MBL) serum levels, could predict the risk of adverse neurological outcome in these infants. METHODS: To evaluate the association between SNPs of the MBL2 gene and long-term neurological outcomes in preterm infants, 75 infants (gestational age (GA) ≤ 32 wk) were observed in a prospective longitudinal study and assessed by clinical and instrumental exams at 12 and 24 mo of corrected age (CA). They were genotyped for the promoter polymorphism -221 and for the exon-1 variant alleles (at codons 52, 54, and 57) of the MBL2 gene. RESULTS: The MBL2 exon-1 OO genotype was more frequent in children with an adverse neurological outcome (5/35; 7%) than in controls (0/40; 0%), P = 0.045. The risk of intraventricular hemorrhage in carriers of the genotype OO was marked, without reaching statistical significance (odds ratio: 8.67; 95% confidence interval: 0.87-86.06; P = 0.07). CONCLUSION: Preterm infants who are carriers of MBL2 exon-1 OO genotype are exposed to an increased risk of adverse neurological outcomes

Neurodevelopmental outcome of Italian preterm children at 1 year of corrected age by Bayley-III scales: an assessment using local norms

Background: Premature birth is often associated with neurodevelopmental difficulties throughout childhood. In the first three years of life, the Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III) constitute one of the most used tools for assessing child development. Since Bayley-III original norms are based on United States (US) population, it remains uncertain whether their use in other countries (e.g., European) is appropriate. Aims: This research aimed to examine neurodevelopment of preterm infants and full-term infants, using Bayley- III US norms in comparison to Italian (IT) norms. Patterns of developmental outcomes for both infant groups were also explored. Methods: 104 preterm and 58 full-term infants were included in the study. Bayley-III was used for neurodevelopmental assessment at 1 year of corrected age, considering both IT and US norms for scores computation. Results: Comparing scores obtained with IT vs US norms, differences in means were all significant across five subscales (p < 0.05 at least) for preterm infants, whereas for full-term peers significant differences were found only for Receptive Language and Fine Motor subscales (p < 0.001). Effect size (η2) ranged from 0.22 to 0.94. Within each group, significant discrepancies across subscales were found. Moreover, Italian preterm infants had significantly lower performances than full-term peers, excepting for Expressive Language and Gross Motor subscales. Conclusions: As regards to Italian 1-year children, our study seems to provide evidence for the tendency of Bayley-III US norms to overestimate development compared to IT norms. These findings emphasize the need to early detect children at risk for developmental delay and to plan early intervention

MBL2 gene polymorphisms increase the risk of adverse neurological outcome in preterm infants: a preliminary prospective study

Background: As described in animal models, the lectin- complement pathway is central to the propagation of ische- mia–reperfusion injuries in many tissues, including the brain. Similarly, it might affect the genesis of brain damage in pre- term infants. MBL2 gene single-nucleotide polymorphisms (SNPs), regulating mannose-binding lectin (MBL) serum levels, could predict the risk of adverse neurological outcome in these infants. Methods: To evaluate the association between SNPs of the MBL2 gene and long-term neurological outcomes in preterm infants,75infants(gestationalage(GA)≤32 wk)were observed in a prospective longitudinal study and assessed by clinical and instrumental exams at 12 and 24 mo of corrected age (CA). They were genotyped for the promoter polymorphism -221 and for the exon-1 variant alleles (at codons 52, 54, and 57) of the MBL2 gene. results: The MBL2 exon-1 OO genotype was more frequent in children with an adverse neurological outcome (5/35; 7%) than in controls (0/40;