PurposeThe Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations – Questionnaire (ESSENCE-Q) was developed as a brief screener to identify children with developmental concerns who might have neurodevelopmental disorders (NDDs). This study aimed to translate the ESSENCE-Q into south Slavic languages, namely, Bosnian, Bulgarian, Croatian, Macedonian, Montenegrin, Serbian, and Slovenian, and to evaluate its psychometric properties for screening purposes in clinical settings.Patients and methodsIn the study, the ESSENCE-Q was completed for 251 “typically developing” children and 200 children with 1 or more diagnosed NDDs, all aged 1–6 years. Internal consistency and construct validity were tested first, followed by generating receiver operating characteristic curves and the area under the curve. Optimal cutoff values were then explored.ResultsThe Cronbach’s α coefficients were 0.91, 0.88, and 0.86 for ESSENCE-Q parent-completed form, and the telephone and direct interview forms administered by trained nurse or specialist, respectively. The 3 versions produced area under the curve values (95% confidence interval): 0.96 (0.93–0.99), 0.91 (0.86–0.95), and 0.91 (0.86–0.97), respectively. An optimal cutoff for ESSENCE-Q parent-completed form was found to be ≥3 points, while for the telephone and direct interviews, it was ≥5 points.ConclusionWe found adequate measurement properties of the south Slavic languages versions of the ESSENCE-Q as a screener for NDDs in clinical settings. This study provided additional data supporting sound psychometric properties of the ESSENCE-Q.

AimTo test the association of NOS3 gene with hypoxic-ischemic encephalopathy (HIE).MethodsThe study included 110 unrelated term or preterm born children (69 boys and 41 girls) with HIE and 128 term and preterm born children (60 boys and 68 girls) without any neurological problems after the second year of life. Children with perinatal HIE fulfilled the diagnostic criteria for perinatal asphyxia. All children were admitted to the Clinical Hospital Split between 1992 and 2008. We analyzed 6 tagging single nucleotide polymorphisms (SNP) within NOS3 gene (rs3918186, rs3918188, rs1800783, rs1808593, rs3918227, rs1799983), in addition to previously confirmed NOS3-associated SNP rs1800779. Genotyping was conducted using real-time polymerase chain reaction (PCR). Association analyses were performed according to allelic and genotypic distribution.ResultsAllelic test did not show any SNP association with HIE. SNP rs1808593 showed genotype association (P = 0.008) and rs1800783-rs1800779 TG haplotype showed an association with HIE (P < 0.001). The study had 80% statistical power to detect (α = 0.05) an effect with odds ratio (OR) = 2.07 for rs3918186, OR = 1.69 for rs3918188, OR = 1.70 for rs1800783, OR = 1.80 for rs1808593, OR = 2.10 for rs3918227, OR = 1.68 for rs1800779, and OR = 1.76 for rs1799983, assuming an additive model.ConclusionDespite the limited number of HIE patients, we observed genotypic and haplotype associations of NOS3 polymorphisms with HIE.

The aim of this study was to analyze the association of different clinical contributors of hypoxic-ischemic encephalopathy with NOS3 gene polymorphisms. A total of 110 children with hypoxic-ischemic encephalopathy and 128 control children were selected for this study. Association of gender, gestational age, birth weight, Apgar score, cranial ultrasonography, and magnetic resonance imaging findings with genotypic data of six haplotype-tagging single nucleotide polymorphisms and the most commonly investigated rs1800779 and rs2070744 polymorphisms was analyzed. The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was associated with hypoxic-ischemic encephalopathy. Children with the TGT haplotype were infants below 32 weeks of gestation and they had the most severe brain damage. Increased incidence of the TT genotype of the NOS3 rs1808593 SNP was found in the group of hypoxic-ischemic encephalopathy patients with medium and severe brain damage. The probability of brain damage was twice as high in children with the TT genotype than in children with the TG genotype of the same polymorphism. Furthermore, the T allele of the same polymorphism was twice as frequent in children with lower Apgar scores. This study strongly suggests associations of NOS3 gene polymorphism with intensity of brain damage and severity of the clinical picture in affected children.

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Objective To highlight the possibility that measures taken to mitigate the COVID‐19 pandemic may lead to a substantial delay of examination by physical medicine specialists and timely rehabilitation programs for children with neurological risks. Patients and methods We performed a retrospective medical history‐based study between 2020 and 2021. The comparator was the number of first examinations in total. In addition, the number of the first examinations of children with neurological risks by physical medicine specialists in 2017, 2018 and 2019 was recorded. Main Outcome Measures The outcome was change in the number of the first examinations and the age of the patients when the examination was first performed. Results During the pandemic year 2020, the total number of first examinations was lower by 244 (38%; 95% CI: 34–42%), and the number of first examinations of children with neurological risks was lower by 216 (36%; 95% CI: 33–40%). On the contrary, in 2021, there was an increase in the total number of first examinations by 114 (18%; 95% CI 15–21%) and first examinations of children with neurological risks compared to the pre‐pandemic years by 97 (16%; 95% CI 13–20%). Furthermore, the division of patients according to age at the moment of the first examination significantly differed in the pre‐pandemic and pandemic 2021 periods (λ=11.8; p=0.018). The most contributing factor to this difference was the group of patients older than 12 months. Conclusions Our study suggests that the chaotic initial stages of the COVID‐19 pandemic during 2020 caused delay in examinations by physical medicine specialists for children with neurological risks that could potentially affect neurodevelopment outcomes. This article is protected by copyright. All rights reserved.