EEG functional connectivity after perinatal stroke.

Impaired cognitive functioning after perinatal stroke has been associated with long-term functional brain network changes. We explored brain functional connectivity using a 64-channel resting-state electroencephalogram in 12 participants, aged 5-14 years with a history of unilateral perinatal arterial ischemic or haemorrhagic stroke. A control group of 16 neurologically healthy subjects was also included-each test subject was compared with multiple control subjects, matched by sex and age. Functional connectomes from the alpha frequency band were calculated for each subject and the differences in network graph metrics between the 2 groups were analyzed. Our results suggest that the functional brain networks of children with perinatal stroke show evidence of disruption even years after the insult and that the scale of changes appears to be influenced by the lesion volume. The networks remain more segregated and show a higher synchronization at both whole-brain and intrahemispheric level. Total interhemispheric strength was higher in children with perinatal stroke compared with healthy controls.

Age related changes and sex related differences of functional brain networks in childhood: A high-density EEG study.

OBJECTIVE: The aim of this study was to explore functional network age-related changes and sex-related differences during the early lifespan with a high-density resting state electroencephalography (rs-EEG). METHODS: We analyzed two data sets of high-density rs-EEG in healthy children and adolescents. We recorded a 64-channel EEG and calculated functional connectomes in 27 participants aged 5-18 years. To validate our results, we used publicly available data and calculated functional connectomes in another 86 participants aged 6-18 years from a 128-channel rs-EEG. We were primarily interested in alpha frequency band, but we also analyzed theta and beta frequency bands. RESULTS: We observed age-related increase of characteristic path, clustering coefficient and interhemispheric strength in the alpha frequency band of both data sets and in the beta frequency band of the larger validation data set. Age-related increase of global efficiency was seen in the theta band of the validation data set and in the alpha band of the test data set. Increase in small worldness was observed only in the alpha frequency band of the test data set. We also observed an increase of individual peak alpha frequency with age in both data sets. Sex-related differences were only observed in the beta frequency band of the larger validation data set, with females having higher values than same aged males. CONCLUSIONS: Functional brain networks show indices of higher segregation, but also increasing global integration with maturation. Age-related changes are most prominent in the alpha frequency band. SIGNIFICANCE: To the best of our knowledge, our study was the first to analyze maturation related changes and sex-related differences of functional brain networks with a high-density EEG and to compare functional connectomes generated from two diverse high-density EEG data sets. Understanding the age-related changes and sex-related differences of functional brain networks in healthy children and adolescents is crucial for identifying network abnormalities in different neurologic and psychiatric conditions, with the aim to identify possible markers for prognosis and treatment.

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.

BACKGROUND Niemann-Pick disease (NPD) type A is an autosomal recessive lipid storage disorder caused by acid sphingomyelinase deficiency due to a mutation in the SMPD1 gene. Type A is the most severe phenotype of NPD, with early onset in infancy and unfavorable outcome in early childhood. CASE REPORT An 11-month-old boy with hepatosplenomegaly, elevated liver transaminases, and faltering growth was admitted to our hospital for further assessment of potential liver disease. He had severe generalized muscular hypotonia, muscular hypotrophy, reduced muscular strenght, joint laxity, weak deep tendon reflexes, and severe motor developmental delay. Leukodystrophy was seen on the brain MRI, and brainstem auditory evoked potentials were characteristic for auditory neuropathy. A chest X-ray showed signs of interstitial lung disease, which was not further evaluated due to absence of respiratory distress. Liver biopsy histopathologic findings were indicative for lipid storage disease. Genetic analysis showed that the patient is a compound heterozygote in the SMPD1 gene - (NM_000543.5): c.573delT p.(Ser192Alafs*65), which was inherited from the mother and c.1267C>T p.(His423Tyr) was inherited from the father. Both variants were previously individually reported in NPD type A and B. The clinical phenotype in our patient was characteristic of NPD type A, with an early onset and a rapidly progresive neurodegeneration. The patient was included in multidisciplinary follow-up, providing him symptomatic treatment and support. CONCLUSIONS We present a case of NPD type A caused by a rare compound heterozygote mutation in the SMPD1 gene. Most clinical findings and the disease course were typical for NPD type A, except for bilateral auditory neuropathy, which seems to be an uncommon finding in this phenotype and could be underestimated due to infrequent testing for auditory dysfunction.

Efficacy and tolerability of vagus nerve stimulation therapy (VNS) in Slovenian epilepsy patients: younger age and shorter duration of epilepsy might result in better outcome.

To review the outcome of vagus nerve stimulation (VNS) therapy in all implanted Slovenian patients with drug-resistant epilepsy, data on 48 patients implanted between 2001 and 2015 were obtained retrospectively from medical records. The outcome was assessed in 2016. Out of 48 patients, 39 responded at follow up. The seizure frequency was reduced in 18 (46.2%) patients; 13 (33.3%) of them reported ≥50% reduction after 12 months of therapy. The responder rate was higher among patients implanted before the age of six years. Ictal severity decreased in 22 (56.4%), seizure duration in 19 (48.7%) and post-ictal recovery time in 22 (56.4%) patients. Favorable effects on the quality of life (QOL) were improved alertness in 33.3%, concentration in 41.0%, energy and mood in 38.5%, and memory in 17.9% of patients. Reduced seizure burden and improved QOL were more often observed in patients implanted at a younger age. Shorter duration of epilepsy was significantly associated with QOL improvement. Adverse effects were transient. Overall positive effects showed VNS to be a safe, well-tolerated and effective adjunctive treatment in most severe drug-resistant epilepsy patients. Implantation at a younger age and shorter duration of epilepsy before implantation could be important predictors of better outcome.

Severe Hyperkalemia Immediately After Birth.

BACKGROUND Hyperkalemia is an important cause of arrhythmias and a medical emergency that requires urgent treatment. The etiology is usually multifactorial. It is most frequently caused by impaired potassium secretion, followed by transcellular potassium shifts and an increased potassium load. CASE REPORT A male newborn developed monomorphic ventricular tachycardia 2 hours after birth. He was born in the 35th week of gestation by urgent C-section following placental abruption. Laboratory results showed hemolytic anemia (Hb 99 g/L, Hct 0.31) with increased bilirubin levels and reticulocytosis, thrombocytopenia (39×109/L), hypoglycemia (0.8 mmol/L), and severe hyperkalemia (9.8 mmol/L). Umbilical artery blood gas analysis showed hypoxemia with acidosis (pO2 3.8 kPa, pH 7.21, pCO2 7.84 kPa, HCO3 23.3 mmol/L, BE -5 mmol/L). Creatinine (102 µmol/L) and urea (9.8 mmol/L) were mildly elevated. Inflammatory markers were also increased (CRP 26 mg/L, blood leukocyte count 24×109/L). Early-onset sepsis, caused by Candida albicans, was confirmed approximately 24 hours after birth. Non-invasive ventilation with 35-40% O2 was necessary due to transient tachypnea. The neonate received a transfusion of packed red blood cells, a 10% glucose infusion, and empirical antibiotic therapy. Hyperkalemia accompanied by arrhythmias was treated with calcium gluconate, insulin, Sorbisterit enema, and, finally, by exchange transfusion. CONCLUSIONS We report a case of severe hyperkalemia in a newborn immediately after birth. Making a decision as early as possible regarding exchange transfusion is essential in patients with hyperkalemia with electrocardiogram changes and hemodynamic instability.

Using child- and family-centred goal setting as an outcome measure in residential rehabilitation for children and youth with acquired brain injuries: The challenge of predicting expected levels of achievement.

PURPOSE: Collaborative, child- and family-centred goal setting is essential in paediatric, acquired brain injury (ABI) rehabilitation. This study aims to understand which goals children and families prioritize and how accurately therapists predict expected levels of achievement for these goals. METHODS: Routinely collected Goal Attainment Scale-Light data from 122 children with severe ABI receiving residential rehabilitation were retrospectively analysed. Goals were mapped onto the International Classification of Functioning, Disability and Health. Descriptive analysis of accuracy of therapists' prediction of goal achievement was conducted. RESULTS: Eight-hundred sixty goals were set: 82% in activities and participation domains, most commonly mobility, self-care, and communication chapters. Forty-six per cent of therapist-set expected levels of achievement for these goals were met at the expected level, and 24% were exceeded. Chapters with the highest prediction accuracy included two environmental chapters and one body structure and function. Accurate prediction of activity and participation goals varied (35% in general tasks and demands to 58.8% in major life areas). CONCLUSIONS: Children and families prioritize mobility, self-care, and communication during ABI residential rehabilitation. Setting expected outcomes for these goals is challenging, as demonstrated by the variety in accurate prediction rates between and within chapters. Families need to be aware of this uncertainty during goal-setting discussions.

Predictive Value of Epileptiform Discharges for Subsequent Epilepsy After Febrile Seizures.

The predictive value of epileptiform discharges for subsequent epilepsy after febrile seizures was studied in 140 children: 72 children (51%) had simple febrile seizures and 68 children (49%) had complex febrile seizures. Electroencephalography (EEG) was performed in 103 children (74%), it was normal in 66 (47%) and with epileptiform patterns in 37 patients (26%). At follow-up in 2017, 10 children developed epilepsy, 1 had a single epileptic seizure, 9 of them had epileptiform EEGs. Of the patients with normal EEGs after complex febrile seizures, none developed epilepsy, and 92% of patients with normal EEGs after recurrent febrile seizures did not develop epilepsy. Therefore, patients with normal EEGs were unlikely to develop epilepsy. Fifteen percent of patients with complex and 31% of patients with recurrent febrile seizures and epileptiform EEGs developed epileptic seizures. The positive predictive value of epileptiform discharges was low in complex and twice as high in recurrent febrile seizures.