Low Apgar score and need for resuscitation increased the probability of receiving therapeutic hypothermia more strongly than acidosis at birth.

AIM: The aim of this study was to investigate how individual markers for birth asphyxia, so-called A criteria, were associated with the probability of receiving therapeutic hypothermia. METHODS: This population-based cohort study included 1336 live-born singleton term infants with any A criterion in the Stockholm-Gotland Region, Sweden during 2008 to 2014. The Swedish Neonatal Quality Register and National Patient Register were used for data collection. Results were presented as adjusted odds ratios (aORs) with 95% confidence intervals (CIs). RESULTS: There were 89 infants, 44 boys and 45 girls with mean gestational age 40.5 weeks, who received therapeutic hypothermia. Low Apgar score, aOR 12.44 (95% CI 5.99-25.86), and resuscitation, aOR 9.18 (95% CI 3.77-22.34), were strongly associated with therapeutic hypothermia. A pH <7.0 was less associated with the outcome, aOR 2.02 (95% CI 1.02-4.0). No infant who received therapeutic hypothermia fulfilled the criteria of base deficit ≥16 mmol/L only. CONCLUSION: A low Apgar score of and/or a need for resuscitation is more relevant for identifying infants eligible for therapeutic hypothermia, compared to other A criteria. This knowledge could be used clinically to identify cases for review and avoid unnecessary monitoring of infants.

On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy.

Objectives: Sporadic variants in ataxia genes may mimic cerebral palsy (CP). Spinocerebellar ataxia 21 (SCA21), a very rare autosomal dominant disease, was discovered to be associated with variants in the transmembrane protein 240 (TMEM240) gene in 2014. In this report, we present 2 patients with sporadic SCA21, one of them diagnosed with ataxic CP. Methods: Patients provided oral and written consent. Comprehensive clinical evaluation, neuroimaging studies, review of previous psychometric evaluations, and whole-genome sequencing were applied in both cases. Results: Both patients presented with early-onset ataxia and exhibited mild parkinsonian features. Patient 1 experienced motor and speech delay, autism, and dyslexia, whereas patient 2 experienced dyslexia. Neuroimaging was normal in both cases. In patient 1, the previously reported pathogenic c.509C>T (Pro170Leu) variant in TMEM240 was detected, whereas patient 2 harbored the novel c.182_188delinsGGAT (Val61_Pro63delinsGlyMet) variant in the same gene. Both genetic variants were sporadic. Discussion: Our findings support the notion that SCA21 is a neurodevelopmental syndrome and a mimicker of ataxic CP. Both lack of a family history of ataxia and congenital presentation were reasonable arguments to consider ataxic CP. However, lack of convincing perinatal incidents, progressive symptoms, and the common presence of cerebellar atrophy should alert neurologists about SCA21.

Neonatal outcomes of very preterm infants admitted to a tertiary center in Lithuania between the years 2003 and 2005.

The objectives of the study are to investigate gestational age-specific mortality and neonatal outcomes in preterm infants admitted to a tertiary center in Lithuania, and to make comparison with tertiary centers in western countries. Three hundred thirty-eight newborns born at ≤ 32 weeks of gestation and with birth weight ≤ 1,500 g between 1 January 2003 and 31 December 2005, admitted to the neonatal intensive care unit at Kaunas Medical University Hospital, were prospectively investigated. Mortality and associations between maternal, perinatal, and neonatal variables and short-term outcomes were examined for two gestational age (GA) groups (group I, extremely preterm, 22-27 weeks GA; group II, very preterm, 28-32 weeks GA). Mortality in group I was 53.5% and 2.9% in group II. GA <28 weeks, Apgar score <5 at 5 min, and birth weight <1,000 g posed the highest risk for death. Overall, 78.2% of the surviving infants were discharged from hospital without adverse short-term outcomes. The incidence of bronchopulmonary dysplasia (BPD) was 6.3%, of retinopathy of prematurity (ROP) requiring treatment 4.2%, of intraventricular hemorrhage (IVH) III-IV 10.9%, and for cystic periventricular leukomalacia (cPVL) 8.0%. In conclusion, a decade after introduction of perinatal programs, mortality in the very preterm group is similar to those reported from cohorts in western countries. In the extremely preterm group, however, mortality is still higher. Neonatal outcomes such as ROP are now similar, and BPD is lower to those in other cohorts, whereas the incidence of brain lesions is still higher. We speculate that differences in outcomes between studies may be explained by differences in resources, definitions, and treatment routines.