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.
Objective:The aim of this study was to analyze prognostic indicators for mortality in neonates with seizures in a level III Neonatal Intensive Care Unit (NICU).Patients and methods:A cohort of 100 neonates with clinically manifested seizures hospitalized in the NICU during 4 years period was prospectively monitored for the first year of life. The cohort consisted of 33 preterm and 67 full-term babies with 60 male and 40 female infants.Results:The mortality rate in the first year of life of infants with seizures in the neonatal period was 23%. The most common cause of seizures was birth asphyxia for full-term infants and intra-periventricular hemorrhage for preterm infants. Death was more common in pre-term than term infants (p <0,005). Simple regression demonstrated statistically significant associations between death in the first year of life and a cluster of highly associated variables: resuscitation (p<0, 01), mechanical ventilation (p<0,01) and asphyxia (p<0,05). This cluster of variables significantly correlates with: gestational age (p<0, 05), birth weight (p<0, 05) and intracranial hemorrhage (p<0, 05).Conclusion:In this cohort of neonates with seizures asphyxia requiring neonatal resuscitation was the primary risk factor for death.
Introduction:Neuroprotective benefit of therapeutic hypothermia in term newborns with hypoxic-ischemic encephalopathy (HIE) was assessed by analyzing survival and neurodevelopmental outcome of neonates subjected to this procedure.Material and methods:Newborns with gestational age > 36 weeks and < 6 hours of age with moderate to severe asphyxial encephalopathy underwent cooling protocol at a temperature of 33.5 °C for 72 hours and rewarming period of 6 hours. Outcome measures assessed were death and neurodevelopmental characteristics, which were compared at the different age using ASQ-3. Twenty-five children were assessed at age 3-6, 12-18 and 24-36 months. Median gestational age was 40 weeks, birth weight 3470 g, Apgar score 2/4 and pH on admission to the hospital 7.02. Four (16%) children died.Results:At the first assessment developmental categories of communication were normal in 78.9%, problem solving in 63.2%, personal-social in 68.4%, gross motor in 68.4%, and fine motor in 42.1% with a high need of retesting in this area. Second assessment was done in 17 patients: developmental categories of communication normal in 58.8%, problem solving in 70.6%, personal-social in 64.7%, gross motor in 64.7%, and fine motor in 35.3%. Third evaluation was done in 14 patients: developmental categories of communication were normal in 64.3%, problem solving in 71.4%, personal-social in 57.1%, gross motor in 64.3%, and fine motor in 42.9%.Conclusion:There was no correlation between baseline parameters and outcome. Results of the study are showing that therapeutic hypothermia in term newborns can provide better survival and less neurologic sequels in HIE patients.
Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases which can be detected by fluorescence in situ hybridization (FISH). We evaluated the most commonly detected microdeletions for the period from June 01, 2008 to June 01, 2015 in the Federation of Bosnia and Herzegovina, including DiGeorge, Prader-Willi/Angelman, Wolf-Hirschhorn, and Williams syndromes. We report 4 patients with DiGeorge syndromes, 4 patients with Prader-Willi/Angelman, 4 patients with Wolf-Hirschhorn syndrome, and 3 patients with Williams syndrome in the analyzed 7 year period. Based on the positive FISH results for each syndrome, the incidence was calculated for the Federation of Bosnia and Herzegovina. These are the first reported frequencies of the microdeletion syndromes in the Federation of Bosnia and Herzegovina.
Introduction:Neuroimaging procedures and electroencephalography (EEG) are basic parts of investigation of patients with epilepsies.Aim:The aim is to try to assess relationship between bilaterally localized brain lesions found in routine management of children with newly diagnosed epilepsy and their interictal EEG findings.Patients and methods:Total amount of 68 patients filled criteria for inclusion in the study that was performed at Neuropediatrics Department, Pediatric Hospital, University Clinical Center Sarajevo, or its outpatient clinic. There were 33 girls (48,5%) and 35 boys (51,5%). Average age at diagnosis of epilepsy was 3,5 years.Results:Both neurological and neuropsychological examination in the moment of making diagnosis of epilepsy was normal in 27 (39,7%) patients, and showed some kind of delay or other neurological finding in 41 (60,3%). Brain MRI showed lesions that can be related to antenatal or perinatal events in most of the patients (ventricular dilation in 30,9%, delayed myelination and post-hypoxic changes in 27,9%). More than half of patients (55,9%) showed bilateral interictal epileptiform discharges on their EEGs, and further 14,7% had other kinds of bilateral abnormalities. Frequency of bilateral epileptic discharges showed statistically significant predominance on level of p<0,05. Cross tabulation between specific types of bilateral brain MRI lesions and EEG finding did not reveal significant type of EEG for assessed brain lesions.Conclusion:We conclude that there exists relationship between bilaterally localized brain MRI lesions and interictal bilateral epileptiform or nonspecific EEG findings in children with newly diagnosed epilepsies. These data are suggesting that in cases when they do not correlate there is a need for further investigation of seizure etiology.
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