Background and purpose Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency that presents with progressive cerebellar ataxia, epilepsy, migraine and psychiatric disorders. Diagnosis is challenging due to the wide clinical spectrum and overlap with other mitochondrial disorders. Methods A detailed description of three new patients and one previously reported patient from three Norwegian families with novel and known ADCK3 mutations is provided focusing on the epileptic semiology and response to treatment. Mutations were identified by whole exome sequencing and in two measurement of skeletal muscle CoQ10 was performed. Results All four patients presented with childhood‐onset epilepsy and progressive cerebellar ataxia. Three patients had epilepsia partialis continua and stroke‐like episodes affecting the posterior brain. Electroencephalography showed focal epileptic activity in the occipital and temporal lobes. Genetic investigation revealed ADCK3 mutations in all patients including a novel change in exon 15: c.T1732G, p.F578V. There was no apparent genotype−phenotype correlation. Conclusion ADCK3 mutations can cause a combination of progressive ataxia and acute epileptic encephalopathy with stroke‐like episodes. The clinical, radiological and electrophysiological features of this disorder mimic the phenotype of polymerase gamma (POLG) related encephalopathy and it is therefore suggested that ADCK3 mutations be considered in the differential diagnosis of mitochondrial encephalopathy with POLG‐like features.

Aim The aim of this study was to examine whether the presence of the apolipoprotein E (ApoE) allele APOEε4 is associated with less severe manifestations of cerebral palsy (CP), consistent with the suggested beneficial effect of this allele on neurodevelopment in children. Method ApoE genotyping was performed on buccal epithelial cells from 255 children (141 males 114 females; mean age 12y, SD 2y 3mo, range 9–17y) recorded in the Cerebral Palsy Register of Norway. The main outcome measure of CP severity was the Gross Motor Function Classification System (GMFCS). Secondary outcome measures were fine motor function, epilepsy, and the need for gastrostomy tube feeding (GTF). Results There was no association between the APOEε4 genotype and GMFCS levels (odds ratio [OR] 1.15; 95% confidence interval [CI] 0.66–1.99). However, the APOEε4 genotype was more often present among children with epilepsy (OR 2.2; 95% CI 1.1–4.2) and/or receiving GTF (OR 2.7; 95% CI 1.1–6.6). Among children with unilateral CP, the presence of APOEε4 was associated with more severe fine motor impairment (OR 2.6; 95% CI 1.3–6.9). Interpretation Our main hypothesis that APOEε4 would have a protective effect on neurodevelopment was not supported. Instead, subgroup analyses suggested an adverse effect of the APOEε4 genotype on the developing brain after injury.

Traumatic brain injuryPaediatric head injury Paediatric traumatic brain injury Paediatric Incidence a b s t r a c t Objective: In this study we wanted to estimate population-based rates of incidence and mortality of moderate and severe traumatic brain injury (TBI) in children in one specific region in Norway.Methods: In the region there are seven acute care hospitals (ACHs) in addition to a Level 1 trauma centre. Of 702 869 inhabitants (2014), 145 395 were children aged 0e16 years. Data were collected during ten years (2004e2014). All children aged 0e16 years with moderate (Glasgow Coma Scale [GCS] score 9e13) or severe (GCS score 8) TBI admitted to the Level 1 trauma centre were prospectively included. Children treated outside the Level 1 trauma centre were retrospectively included from the ACHs. Children who died from TBI prehospitally were included from the National Cause of Death Registry. Poisson regression was used to estimate incidence rate ratios (with a 95% confidence interval) comparing age, sex, and time periods.Results: A total of 71 children with moderate or severe TBI were identified. Crude incidence rates were 2$4 (95% CI 1$7e3$3) for moderate and 2$5 (95% CI 1$8e3$4) for severe TBI per 100

The aim of the Bologna Process is to make higher education systems across Europe more transparent. It is crucial for this purpose that confusion concerning the characteristics of the systems should be replaced by conformity. But, as we will show, conformity brought about at one level may create confusion at another. The curricular aspect of the Bologna Process focuses on a shift to outcome-based and student-centred programmes. Syllabi should now be based on intended learning outcomes (ILOs) and should be adjusted to general level descriptors for qualifications. However, the Bologna documents give no explicit recommendations about the use of grading scales. In Denmark, Norway and Sweden, the reforms of higher education induced by the Bologna process included a change of grading scales and referred to the European Credit Transfer and Accumulation System (ECTS). Through these three case studies, we describe and analyse the political process and argumentation underpinning the decisions to change the grading scales in each country. This includes the problems, both experienced and perceived, with the old grading scales, the various national assessment traditions and the new grading scales. The purpose of the change was not the same in each country, but the ongoing adaptation to a seven-step grading scale was thought to ease the international recognition of the national grades, making mobility easier. Though a seven-step grading scale was implemented in both Danish and Norwegian higher education and also by an increasing number of Swedish higher education institutions, the translation of grades only works on a superficial level. The grading scales designed are fundamentally different as classification systems; they attach different numerical values to grades with identical labels and they relate differently to norm- and standards-referenced judgements of learning outcomes. The information condensed in similar grades from the three countries cannot be equated. The vision of simple transparency turns out to be an illusion.