BackgroundThe European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) is a prospective international registry investigating the natural history of Friedreich ataxia (FRDA). Based on our 1 year and 2 year data we aimed to delineate potential outcomes for clinical trials. MethodsWe enrolled patients with genetically confirmed FRDA from 11 European study sites. Patients were seen on an yearly basis at three visits. Our primary endpoint was the Scale for the Assessment and Rating of Ataxia (SARA). Secondary outcomes were the Inventory of Non-Ataxia Signs (INAS), the Spinocerebellar Ataxia Functional Index (SCAFI), phonemic verbal fluency (PVF), and the quality of life measures activities of daily living (ADL) and EQ-5D-3L index. Disease progression was analysed with linear mixed effect models.This study is registered with ClinicalTrials.gov, number NCT02069509. Findings 605 FRDA patients were enrolled between 15-Sep-2010 and 21-Nov-2013. 546 patients (90%) contributed data with at least one follow-up visit. Annual progression rate for SARA was 0•77 points (SE 0•06) in the overall cohort. Deterioration in SARA was associated with a lower age of onset (by -0•02 [0•01] points per year) and a lower SARA baseline score (-0•07 [0•01] per baseline-point). Patients with more than 353 GAA repeats on the shorter allele had a higher SARA progression rate (by 0•09 [0•02] per additional 100 repeats).Annual worsening for INAS was 0•10 (0•03), for SCAFI -0•04 (0•01), for ADL 0•93 (0•06) and for EQ-5D-3L -0•02 (0•004). PVF performance improved by 0•99 [0•14] words per year. 548 or 184 patients would be needed to detect a 50% reduction in SARA progression at 80% power in a one-year or two-year clinical trial, respectively. InterpretationThe EFACTS longitudinal analysis provides suitable outcome measures and sample size calculation for upcoming clinical trial designs in FRDA.

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Objective: We wanted to primarily examine the knowledge, attitudes and behaviour of parents and health workers (community nurses and paediatricians) regarding child injuries in order to understand the essence of the problem and to find out the most common misconceptions.Methods: Respondents were tested through an anonymous, self-administered questionnaire and all p values below 0.05 were considered significant.Results: Of all respondents, paediatricians answered accurately most of the questions considering knowledge than the other groups. More than 90% of respondents, in all groups, identified correct answers to 10 questions about attitudes towards child injury prevention and safety promotion. Conclusion:This study, which shows the current level of knowledge, attitudes and behaviour patterns of parents and health professionals in Croatia, could help in the preparation of appropriate prevention programmes.

Objective -We present the case of one-month-old male infant with symptoms of abuse. Case report -The mother gave an accurate history of domestic violence, where the alcoholic father was the perpetrator who hit and shook the infant violently and strongly back and forth. He shaved and squeezed the infant's head against his body and hit the infant with his hand. The infant suffered from multiple fractures of the skull, excoriations and bruises, without loss of consciousness or vomiting. During hospitalization he did not have any further complications and was discharged after hospitalization in good condition. Conclusion -To best of our knowledge, we did not find any described or documented case of shaken-baby syndrome in professional literature in Croatia, so further studies are recommended. The typical patterns of clinical and radiographic findings allow a definitive diagnosis and it is important that health professionals are familiar with them.