Preterm General Movements in Prediction of Neurodevelopmental Disability and Cerebral Palsy at Two Years: A Prospective Cohort Study

Background: A neurological assessment before discharge from the NICU would enable early targeted intervention to mitigate the risk and severity of cerebral palsy (CP) and neurodevelopmental disability. Objective: To assess the accuracy of general movements (GM) in the preterm and fidgety movement periods in predicting neurodevelopmental disability and cerebral palsy in very preterm infants (?32 weeks gestational age) at 18-24 months corrected gestational age. Study design: Prospective cohort study Participants: One hundred and seventy very preterm infants, mean (SD) gestation 29.8 (1.32) weeks, and birthweight 1215 (226) g. Outcomes: Infants underwent GM assessments in the preterm period (31-36 weeks post-conception age) and fidgety movement period (8-18 weeks post term age). Neurodevelopmental outcomes were assessed in 127 children using the Griffiths Mental Developmental Scales-2. Results: Nine children had neurodevelopmental disability (two infants with cerebral palsy and seven with global developmental delay. The relative risk (95% CI) for neurodevelopmental disability was 1.46 (0.31-6.89) with preterm movements and 6.07 (0.97 – 38.05) with fidgety movements. Sensitivity and specificity values for the prediction of neurodevelopmental disability were 33% and 64% in the preterm period and 25% and 92% in the fidgety movement period, respectively. The sensitivity and specificity values for prediction of CP were 50% and 63% in the preterm period and 100% and 93% in the fidgety movement period, respectively. Conclusion: Preterm movements showed lower sensitivity and specificity than fidgety movements in predicting later CP and neurodevelopmental disability in preterm infants.

Cri du chat syndrome: A series of five cases.

The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH) analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome.