Phosphoribosylpyrophosphate synthetase 1 (PRSI) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical ...syndromes: X-linked non-syndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5) and Arts syndrome. We present a Slovenian patient with PRS-I enzyme deficiency due to a novel pathogenic variant – c.424G > A (p.Val142Ile) in the PRPS1 gene, who presented with gross motor impairment, severe sensorineural deafness, balance issues, ataxia, and frequent respiratory infections. In addition, we report the findings of a systemic literature review of all described male cases of Arts syndrome and CMTX5 as well as intermediate phenotypes. As already proposed by other authors, our results confirm PRS-I deficiency should be viewed as a phenotypic continuum rather than three separate syndromes because there are multiple reports of patients with an intermediary clinical presentation.
This study examined the dynamics of teacher burnout over the course of the school year in relation to individual and environmental factors in the school context based on a three-wave panel design ...using an MBI-ES questionnaire and a self-constructed inventory to measure individual and environmental factors of burnout. The sample consisted of 718 teachers from 32 Slovenian primary schools; 163 of them participated in all measurements. The major limitation of this study is the high attrition rate. However, attrition analysis showed no significant differences between the initial sample and the panel group on background variables and burnout dimensions or on environmental and individual factors. Burnout was present but not pronounced among participating teachers: Emotional exhaustion was moderately high and depersonalization and personal accomplishment were low. Over the course of the school year, burnout did not increase consistently and gradually; we found only a statistically significant increase in personal accomplishment in the middle of the school year and a statistically significant greater sense of burnout at the end of the school year. As stress accumulates over time, we would expect burnout to increase. We hypothesize that participants reduced the effects of stress through various coping strategies and/or replenish their resources. We believe that the school year is not long enough for burnout to develop. The number of stressors perceived by teachers was significantly related to burnout rates. Teachers experience stress, especially in work not directly related to teaching, and from their own performance expectations. Multivariate regression analyses yielded three different but similar models of predictors of burnout that explained 25 to 50% of the variance in teacher burnout. Regardless of the instability of the models, the time and energy demands of working with students, teacher characteristics, and classroom management are the stable antecedents in the predictor models of teacher burnout.
During the course of their work, teachers may be subjected to conditions that cause different health problems. This study examines occupational health disorders in a representative sample of 858 ...teachers (528 female; age 44.0 ± 9.67 years) divided into three groups of teachers with specific occupational requirements: specialist physical education teachers (specialist PETs), classroom teachers, and specialist teachers. The number of health disorders in the last 12 months was recorded using the Chronic Health Disorders Questionnaire . The differences between the different types of teachers, controlled for sex and age, were analyzed using binary logistic regression. The results showed that 89% of teachers experienced colds as the most frequently reported health problem, followed by 58% for lower back problems, 57% for headaches, 51% for hoarseness, and 43% for neck problems. A binary logistic regression showed that specialist PETs were the group with the highest health risk. They were about twice as likely to have musculoskeletal or hearing disorders than the other two groups of teachers. They were also significantly more likely to suffer from hoarseness. Understanding these different health challenges is critical to developing targeted interventions and robust support systems. These interventions should include initiatives aimed at raising awareness of health risk factors, implementing injury interventions and vocal cord hygiene programs, making ergonomic adjustments, and promoting awareness of self-care (both mental and physical). Given that the teaching profession is currently struggling with an aging workforce and a shortage of teachers, addressing these challenges is critical to the continued well-being of the teaching professionals.
In 2020, physical education teacher education (PETE) students of the Faculty of Sport of the University of Ljubljana (N = 46) had to complete a large part of the practical pedagogical training ...online. Using an online questionnaire, we investigated how they delivered distance learning in physical education (PE) at Primary Schools, the extent to which they achieved their objectives, encouraged students to move, delivered content, and assessed. The delivery mostly depended on whether the school included PE in the timetable. On average, most lessons took the form of independent student activity following written or recorded instructions, and the others took the form of online outdoor or indoor live classes. The latter were often used to give instructions, check tasks and motivate. Some schools organized at least one sports day (26%), active break (21%), or active class break (9%). Most student teachers chose different objectives compared to a traditional form of instruction: they emphasized the development of motor and functional abilities rather than the acquisition of new motor and social skills. All student teachers delivered physical fitness, followed by athletics (59%), dance and aerobics (43%), ball games (except volleyball 33%) were represented in a smaller proportion. 21% of the students taught content continuously. The assessment was done by 71.4% of the students (many of them only assessed the completion of the tasks) and evaluation by only 31.0%. They used a workout diary, videos or photos, or live conference calls. The average response rate was 71% for 1st-6th graders and 59% for 7th-9th graders. 21% did not attempt to reach non-responding students, while 10% indicated that they did not have problems with nonresponding.
Zbog pandemijskih razloga, studenti izobrazbe nastavnika tjelesne i zdravstvene kulture Fakulteta za šport Sveučilišta u Ljubljani (N = 46) morali su završiti velik dio početne edukacije putem interneta u 2020. godini. Koristeći online upitnik, istražili smo kako su uspjeli učiti na daljinu u okviru predmeta tjelesne i zdravstvene kulture. Provedba nastave je najviše ovisila o tome je li škola uključila predmet unutar obavezne satnice. U prosjeku, većina programa bila je organizirana u obliku samostalne aktivnosti učenika slijedeći pisane ili snimljene upute, a ostatak je bio u obliku online nastave uživo na otvorenom ili u zatvorenom prostoru. Tijekom takve vrste nastave često su davane upute, provjeravanje zadataka i motiviranje. Neke su škole organizirale barem jedan sportski dan (26%), aktivni odmor (21%) ili aktivni odmor za vrijeme sata (9%). Većina nastavnika izabrala je različite ciljeve u usporedbi s tradicionalnim oblikom nastave; naglasak su stavljali na razvoj motoričkih i funkcionalnih sposobnosti, a ne na stjecanje novih motoričkih i socijalnih vještina. Najčešće je naglasak bio na razvoj fizičke kondicije, a slijedile su aktivnosti poput atletike (59%), plesa i aerobiak (43%). No, igre loptom (osim odbojke 33%) bile su zastupljene u manjem postotku. Sadržaje je kontinuirano provodio 21% nastavnika. Provjeravanje je provodilo 71,4% nastavnika, a ocjenjivanje samo 31,0% nastavnika. Često su bili korišteni dnevnici vježbanja, videozapisi, fotografije ili konferencijski pozivi uživo.
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