Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomalies. Given its clinical heterogeneity, GAMOS is believed to be a genetically heterogenous group of disorders. Recently, it has been reported that mutations in KEOPS-encoding genes, including the OSGEP gene, were responsible for GAMOS. Overall, 6 patients from 5 different Taiwanese families were included in our study; the patients had an identical OSGEP gene mutation (c.740G > A transition) and all exhibited a uniform clinical phenotype with early-onset nephrotic syndrome, craniofacial and skeletal dysmorphism, primary microcephaly with pachygyria, and death before 2 years of age. We reviewed their clinical manifestations, the prenatal and postnatal presentations and ultrasound findings, results of imaging studies, associated anomalies, and outcome on follow-up. All individuals were found to have an “aged face” comprising peculiar facial dysmorphisms. Arachnodactyly or camptodactyly were noted in all patients. Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. Brain imaging studies all showed pachygyria and hypomyelination. All patients developed early-onset nephrotic syndrome. The proteinuria was steroid-resistant and eventually resulted in renal function impairment. Prenatal ultrasound findings included microcephaly, intrauterine growth restriction, and oligohydramnios. Fetal MRI in 2 patients confirmed the gyral and myelin abnormalities. Our study suggests that a careful review of the facial features can provide useful clues for an early and accurate diagnosis. Prenatal ultrasound findings, fetal MRI, genetic counseling, and mutation analysis may be useful for an early prenatal diagnosis.

Nationwide group B Streptococcus agalactiae (GBS) antepartum screening was instituted in Taiwan in 2012. The impact of the policy on early-onset sepsis (EOS) has not been evaluated. This study aimed to examine the impact of the policy on the incidence of neonatal EOS. This was a retrospective study conducted at MacKay Children's Hospital. Patients with culture-proven neonatal EOS were enrolled and divided by birth year in relation to the implementation of GBS prevention policy: Epoch 1, 2001-2004 pre-GBS screening; Epoch 2, 2005-2011 elective GBS screening; and Epoch 3, 2012-2018 universal GBS screening. The pathogens and antimicrobial resistance patterns were reviewed and analyzed. The incidence was modeled using Poisson regression. A total of 128 neonates met the enrollment criteria. The observed incidence of EOS was 1.52‰. The incidence rates of EOS, GBS, and Escherichia coli (E. coli) sepsis were similar in Epoch 1 and Epoch 3. E. coli and non-Enterococcal group D Streptococcus (GDS) infection increased significantly in term infants, whereas the EOS-related mortality rate declined in preterm infants. Approximately 72% of the isolated E. coli were ampicillin-resistant, and the antimicrobial sensitivity remained unaltered during the studied period. The overall EOS incidence has not changed from 2001 to 2018. However, changes in the causative pathogens were observed in both term and preterm infants. Clinicians should be aware of this evolving epidemiology to provide prompt appropriate perinatal management.

Advances in perinatal and neonatal care have increased the survival of extremely preterm infants, but the viability limit is still debated. Here we assess the survival, neonatal morbidity, and neurodevelopmental outcomes at 2 years of age of infants born at 22-26 weeks of gestation in Taiwan between 2007 and 2011. This is a prospective longitudinal multicenter cohort study on extremely preterm infants registered in the Taiwan Premature Infant Developmental Collaborative Study Group from 2007 to 2011, including 22 neonatal care centers. We extracted demographic and clinical data of infants born at 22-26 weeks, and obtained growth and developmental outcome data from the follow-up clinic at 24 months of corrected age. Multivariate analyses using a logistic regression model identified factors significantly impacting survival. 647 of the 1098 infants included in the study (58.9%) survived to discharge. Survival rates were 8% (4/50), 25% (27/108), 46.8% (117/250), 67.0% (211/315), and 76.8% (288/375) for infants born at 22, 23, 24, 25, and 26 weeks, respectively. Most survivors (567/647, 87.6%) had major morbidities during hospitalization, and we identified factors that positively and negatively affected survival. 514 (79.4%) patients received follow-up evaluation at 2 years, and 204 (39.7%) of them had neurodevelopmental impairment (NDI) with an incidence of 75%, 65.2%, 49.5%, 39.5%, and 32.8% for infants born at 22, 23, 24, 25, and 26 weeks, respectively. Infants born at 22 and 23 weeks have a very low likelihood of surviving with little or no impairment. These findings are valuable for parental counseling and perinatal care decisions.

Background: The impact of small-for-gestational-age (SGA) on very-low-birth-weight (VLBW) premature infants remains inconclusive. This study aimed to assess the effects of being born SGA status on the short-term and long-term outcomes in VLBW preterm infants.Methods: We conducted a population-based, prospective cohort study on VLBW preterm infants born in Taiwan between 2012 and 2017. Sociodemographic, neonatal, growth and neurological data at 2 years of corrected age were collected. A total of 4243 VLBW infants born at 24 through 32 completed weeks' gestation participated in this study, of whom 1,005 had SGA status defined as a birth weight <10th percentile of gestation, and 3,238 did not (the non-SGA group).We compared the risks of short-term outcomes (neonatal mortality and morbidities), long-term outcomes (growth status, including weight, height, and head circumference <10th percentile, and neurodevelopmental impairments at 2 years of age). Subgroup analysis was performed by stratification of gestation age (GA): GA 24–26, 27–29 and 30–32 weeks.Results: In the analysis of short-term outcomes, the SGA group had an increased risk of neonatal mortality [adjusted odds ratio (OR) = 2.66, 2.99, and 2.19, respectively] in all GA subgroups in comparison with the non-SGA group (p < 0.05). The SGA group had a significantly increased risk of bronchopulmonary dysplasia in GA 27–29 and 30–32 weeks (adjusted OR = 2.11 and 1.86, respectively). We also found that there was an increased risk of severe retinopathy of prematurity in GA 24–26 and 27–29 weeks in the SGA group compared with the non-SGA group (adjusted OR = 1.68 and 1.59, respectively).In the analysis of long-term outcomes, the SGA group had a significantly increased risk of NDI throughout all GA subgroups (adjusted = 1.94, 1.33, and 1.35, respectively) in comparison with the non-SGA group. The SGA groups also had an increased risk of growth status <10th percentile at 2 years of age (p < 0.05).Conclusions: SGA VLBW premature infants had higher risks of neonatal death, growth status <10th percentile, and NDI at 2 years of corrected age compared with the non- SGA premature infants. Prenatal surveillance, postnatal attention, and long- term follow-up are warranted to improve the outcomes of VLBW SGA premature infants.

Purpose:To assess the predictive validity of the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) cognitive scores at 6 months of corrected age (CA) for cognitive outcomes at 24 months of CA in very-low-birth-weight (VLBW) infants and investigate the predictors of change in cognitive outcomes.Methods:We retrospectively evaluated VLBW children enrolled in the Taiwan Premature Infant Follow-up Network between 2010 and 2015 and completed the Bayley-III at CA of 6 and 24 months. The predictive validity of the cognitive performance at 6-month CA for the cognitive outcomes at 24-month CA was analyzed. The positive and negative predictive factors were also evaluated using logistic regression. Cut-off scores of <70 and <85 were used to identify lower functioning groups based on the Bayley-III definition.Results:A total of 2,972 VLBW children, born with a mean weight of 1116.4 ± 257.5 g and mean gestational age of 29.0 ± 2.8 weeks, were evaluated. A cognitive score of <70 at 6-month CA had a positive predictive value (PPV) of 27.4% (95% confidence interval [CI]: 19.2–35.7%) for a cognitive score of <70 at 24-month CA, while the negative predictive value (NPV) was 97.3% (95% CI: 96.7–97.9%). A cut-off score of 85 had a PPV of 33.6% (95% CI: 28.1–39.0%) and an NPV of 87.7% (95% CI: 86.4–88.9%). Abnormal muscle tone at 6 months was a risk factor for cognitive function decline at 24 months for both Bayley-III cognitive cut-off scores: scores of 70 (adjusted odds ratio [AOR]: 2.8; 95% CI: 1.5–5.5) and 85 (AOR: 2.6; 95% CI: 1.6–4.1). Lower maternal socioeconomic status was associated with a worsening of the cognitive function in infants at 24 months who scored ≥85 at 6 months (AOR: 1.6; 95% CI: 1.2–2.0).Conclusion:Subnormal Bayley-III cognitive scores at 6-month CA were not predictive of subnormal cognitive function at 24-month CA. In children with normal cognition during early infancy, abnormal muscle tone and lower maternal socioeconomic status may influence the cognitive developing process; this highlighted the importance of early identification of high risk infants and complete preterm infant-associated public health policies to promote an improved neurodevelopmental outcome.