Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.

BACKGROUND AND PURPOSE: Primary lateral sclerosis (PLS) is a progressive upper motor neuron (UMN) disorder. It is debated whether PLS is part of the amyotrophic lateral sclerosis (ALS) spectrum, or a syndrome encompassing different neurodegenerative diseases. Recently, new diagnostic criteria for PLS have been proposed. We describe four patients of two pedigrees, meeting definite PLS criteria and harboring two different mutations in presenilin 1 (PSEN1). METHODS: Patients underwent neurological and neuropsychological examination, MRI, 18F-fluorodeoxyglucose positron emission tomography (FDG-PET), amyloid-related biomarkers, and next-generation sequencing (NGS) testing. RESULTS: Four patients, aged 25-45 years old, presented with a progressive UMN syndrome meeting clinical criteria of definite PLS. Cognitive symptoms and signs were mild or absent during the first year of the disease but appeared or progressed later in the disease course. Brain MRI showed microbleeds in two siblings, but iron-related hypointensities in the motor cortex were absent. Brain FDG-PET showed variable areas of hypometabolism, including the motor cortex and frontotemporal lobes. Amyloid deposition was confirmed with either cerebrospinal fluid (CSF) or imaging biomarkers. Two heterozygous likely pathogenic mutations in PSEN1 (p.Pro88Leu and p.Leu166Pro) were found in the NGS testing. CONCLUSION: Clinically defined PLS is a syndrome encompassing different neurodegenerative diseases. The NGS testing should be part of the diagnostic workup in patients with PLS, at least in those with red flags, such as early-onset, cognitive impairment, and/or family history of neurodegenerative diseases.

Multimodal imaging in Susac syndrome with classic clinical triad presentation.

A 22-year-old male was referred for headaches, hearing impairment, and right eye scotoma. Branch retinal artery occlusion was revealed during the ophthalmological examination. Susac syndrome was suspected due to the symptoms described and the absence of cardiovascular risk factors. An extensive ophthalmological examination, including multimodal imaging was carried out, which is of special interest as it is considered to be a rare syndrome.

Analysis of Misbehaviors and Satisfaction With School in Secondary Education According to Student Gender and Teaching Competence.

Effective classroom management is a critical teaching skill and a key concern for educators. Disruptive behaviors disturb effective classroom management and can influence school satisfaction if the teacher does not have the competencies to control them. Two objectives were set in this work: to understand the differences that exist in school satisfaction, disruptive behaviors, and teaching competencies according to the gender of the students; and to analyze school satisfaction and disruptive student behaviors based on perceived teaching competence. A non-probabilistic and convenience sample selection process was employed, based on the subjects that we were able to access. 758 students participated (male = 45.8%) from seven public secondary schools in the Murcia Region (Spain). The age range was between 13 and 18 years (M = 15.22; DT = 1.27). A questionnaire composed of the following scales was used: Competencies Evaluation Scale for Teachers in Physical Education, School Satisfaction and Disruptive Behaviors in Physical Education. Mixed Linear Models performed with the SPSS v.23 was used for statistical analyses. The results revealed statistically significant differences based on gender and physical education teaching competencies. In conclusion, the study highlights that physical education teacher skills influence disruptive behaviors in the classroom, and that this is also related to school satisfaction. Furthermore, it highlights that boys showed higher levels of negative behaviors than girls.

Early Referral to an ALS Center Reduces Several Months the Diagnostic Delay: A Multicenter-Based Study.

Objective: To analyze those factors contributing to the diagnostic delay in ALS. Methods: Consecutive ALS patients were categorized as those studied in departmental hospitals and those studied in a referral ALS center. Demographic and clinical variables, together with data of the diagnostic pathway were collected. Multivariable models were used to assess their effect in the time between symptoms onset and the first neurologist visit (time symptoms-neurologist), in the time between the first neurologist visit and the diagnosis (time neurologist-diagnosis) and in the diagnostic delay. Results: 166 ALS patients with a median diagnostic delay of 11.53 months (IQR: 6.68, 15.23) were included. The median diagnostic delay was 8.57 months (5.16, 11.61) in the referral center vs. 12.08 months (6.87, 16.8) in departmental centers. Bulbar onset, fast progression rate, upper motor neuron predominant phenotype and an early referral to the neurologist were associated with a shorter time between symptoms-neurologist. Being studied in a referral center was associated with a shorter time between neurologist-diagnosis. Comorbidities, familial ALS, bulbar onset, early referral to the neurologist and being studied in a referral center were associated with a shorter diagnostic delay. For patients studied in departmental hospitals, fast progression rate was also strongly associated with a shorter time between neurologist-diagnosis and diagnostic delay. Conclusion: Unmodifiable factors (comorbidities, familial ALS, bulbar onset, and progression rate) as well as modifiable factors (early referral to the neurologist and the evaluation in an ALS referral center) have an independent effect in the diagnostic delay. The universalization of ALS Units is probably the most efficient measure to reduce the diagnostic delay.

Interaction Effects of Disruptive Behaviour and Motivation Profiles with Teacher Competence and School Satisfaction in Secondary School Physical Education.

The objectives of this work were two-fold: Firstly, to identify the profiles of disruptive behaviours and motivation in secondary school physical education students using cluster analysis; and secondly, to analyse the interaction of the profiles with school satisfaction and perceived teaching competence. A group of 758 secondary school students (54.2% female) between the ages of 13 and 18 (M = 15.22, DT = 1.27) participated in the study by responding to the following scales: The Disruptive Behaviours in Physical Education Questionnaire, The School Satisfaction Scale, The Sport Motivation Scale adapted to Physical Education, and the Evaluation of Teaching Competencies Scale in Physical Education. The cluster analysis established two distinct profiles: High levels of disruptive behaviours and low levels of disruptive behaviours. The results showed that the students with the high disruptive behaviours profile were mostly boys, having low levels of intrinsic motivation and high levels of amotivation and misbehaviour in the classroom. In contrast, those students with the low disruptive behaviours profile were mostly girls, having the highest levels of intrinsic motivation and the lowest levels in all the disruptive behaviours. It was shown that students exhibiting the worse classroom behaviours were more bored in school, while those students with better behaviour perceived greater teaching competence.

Effects of Motivation, Basic Psychological Needs, and Teaching Competence on Disruptive Behaviours in Secondary School Physical Education Students.

Currently, disruptive and aggressive behaviours of a physical and verbal nature are a reality among adolescent students and a concern in the educational context. Therefore, the main objective of this research was to analyse the effects of perceived teaching competence, motivation and basic psychological needs on disruptive behaviours in secondary school PE students. The sample was composed of 758 adolescent students from seven public secondary schools. The following instruments adapted to physical education were used: The Disruptive Behaviours Questionnaire, The Evaluation of Teaching Competencies Scale, The Sport Motivation Scale, and The Basic Psychological Needs Scale. Multilevel regression models with the MIXED procedure were performed for data analysis. The results show that misbehaviour is more likely among male students and that disruptive behaviours decrease when a teacher is perceived as competent. Students with greater self-determined motivation are more likely to exhibit fewer behaviours related to low engagement and irresponsibility while amotivation increases the different disruptive behaviours in the classroom. In conclusion, it is proposed that educators work in line with the students' needs by responding to their interests and that this will increase self-determined motivation.

Modelo de predicción de la satisfacción y diversión en Educación Física a partir de la autonomía y el clima motivacional / Prediction Model of Satisfaction and Enjoyment in Physical Education from the Autonomy and Motivational Climate

El objetivo de este trabajo fue hallar un modelo de predicción de la satisfacción y diversión hacia la Educación Física partiendo del clima de aprendizaje y teniendo en cuenta el apoyo a la autonomía del profesorado y la propia percepción de autonomía del alumnado. Se utilizó una muestra de 758 alumnos de secundaria con edades entre 13 y 18 años. Se aplicó a los participantes de la investigación, la versión española adaptada a la educación física, de los siguientes instrumentos: Learning and Performance Orientations in Physical Education Classes Questionnaire, Learning Climate Questionnaire, Sport Satisfaction Instrument y el factor autonomía del Basic Psychological Needs in Exercise Scale. Los resultados señalaron que el clima motivacional implicado en el aprendizaje predecía positivamente el apoyo a la autonomía por parte del profesor y esta predecía la propia percepción de autonomía del alumno. Asimismo, la percepción de autonomía predijo positivamente la satisfacción/diversión y negativamente el aburrimiento en las clases. Como conclusión, los docentes deben favorecer un clima de aprendizaje que apoye la autonomía y favorezca la percepción de esta en el alumno para conseguir que se diviertan en las clases de Educación Física.

The aim of this work was to find a model to predict satisfaction and fun to the physical education based on learning climate and considering supporting to the autonomy of teachers and the perception of autonomy of students. A sample of 758 secondary school students aged between 13 and 18 was used. The following instruments were used: the Spanish version adapted to Physical Education of Learning and Performance Orientations in Physical Education Classes Questionnaire, Learning Climate Questionnaire, Sport Satisfaction Instrument and autonomy factor in Basic Psychological Needs in Exercise Scale. The results showed that learning motivational climate positively predicted perceived autonomy support on the teacher part and this predicted the self perception of autonomy on the part of students. In the same way, the perceived autonomy positively predicted satisfaction/fun and negatively boredom in class. In conclusion, teachers should foster a learning climate that supports and promotes the autonomy perceived autonomy in students for them to have fun in physical education classes.

Psychological factors related to physical education classes as predictors of students' intention to partake in leisure-time physical activity.

In view of the rise in sedentary lifestyle amongst young people, knowledge regarding their intention to partake in physical activity can be decisive when it comes to instilling physical activity habits to improve the current and future health of school students. Therefore, the object of this study was to find a predictive model of the intention to partake in leisure- time physical activity based on motivation, satisfaction and competence. The sample consisted of 347 Spanish, male, high school students and 411 female students aged between 13 and 18 years old. We used a questionnaire made up of the Sport Motivation Scale, Sport Satisfaction Instrument, and the competence factor in the Basic Psychological Needs in Exercise Scale and Intention to Partake in Leisure-Time Physical Activity, all of them adapted to school Physical Education. We carried out confirmatory factor analyses and structural equation models. The intention to partake in leisure-time physical activity was predicted by competence and the latter by satisfaction/fun. Intrinsic motivation was revealed to be the best predictor of satisfaction/fun. Intrinsic motivation should be enhanced in order to predict an intention to partake in physical activity in Physical Education students.

Factores psicológicos relacionados con las clases de educación física como predictores de la intención de la práctica de actividad física en el tiempo libre en estudiantes / Psychological factors related to physical education classes as predictors of students’ intention to partake in leisure-time physical activity

Resumen Debido al aumento del sedentarismo entre los jóvenes, conocer la intención de práctica de actividad física en esta población puede ser determinante a la hora de inculcar futuros hábitos de práctica física para mejorar la salud actual y futura de los escolares. Así, el objetivo de este trabajo fue hallar un modelo predictivo de la intención de práctica de actividad física en tiempo libre a partir de la motivación, la satisfacción y la competencia. La muestra fue de 347 hombres y 411 mujeres de educación secundaria en España, con edades de entre 13 y 18 años. Se utilizó un cuestionario compuesto por el Sport Motivation Scale, Sport Satisfaction Instrument, el factor competencia de Basic Psychological Needs in Exercise Scalee Intention to partake in leisure-time physicalactivity, todos ellos adaptados a la Educación Física escolar. Se realizaron análisis factoriales confirmatorios y modelos de ecuaciones estructurales. La intención de práctica fue predicha por la competencia y ésta por la satisfacción/diversión. La motivación intrínseca se mostró como el mejor predictor de la satisfacción/diversión. Para predecir la intención de práctica física se debería potenciar la motivación intrínseca entre el alumnado de Educación Física.

Abstract In view of the rise in sedentary lifestyle amongst young people, knowledge regarding their intention to partake in physical activity can be decisive when it comes to instilling physical activity habits to improve the current and future health of school students. Therefore, the object of this study was to find a predictive model of the intention to partake in leisure- time physical activity based on motivation, satisfaction and competence. The sample consisted of 347 Spanish, male, high school students and 411 female students aged between 13 and 18 years old. We used a questionnaire made up of the Sport Motivation Scale, Sport Satisfaction Instrument, and the competence factor in the Basic Psychological Needs in Exercise Scale and Intention to Partake in Leisure-Time Physical Activity, all of them adapted to school Physical Education. We carried out confirmatory factor analyses and structural equation models. The intention to partake in leisure-time physical activity was predicted by competence and the latter by satisfaction/fun. Intrinsic motivation was revealed to be the best predictor of satisfaction/fun. Intrinsic motivation should be enhanced in order to predict an intention to partake in physical activity in Physical Education students.

Validación española de la Escala de Evaluación de la Competencia Docente en Educación Física de secundaria / Validação em espanhol da Evaluation of Teaching Competencies Scale em Educação Física no ensino secundário / Spanish version of the Evaluation of Teaching Competencies Scale in Physical Education of secondary school

El objetivo de esta investigación fue analizar las propiedades psicométricas del Evaluation of Teaching competencies Scale (ETCS) en una muestra española de Educación Física en educación secundaria. Se administró a un total de 758 estudiantes de secundaria de 12 a 18 años, analizándose la estructura del instrumento mediante procedimientos confirmatorios. Los análisis apoyan el modelo teórico hipotetizado de origen, presentando los ocho ítems medidas adecuadas de homogeneidad y la escala una aceptable consistencia interna (fiabilidad compuesta =,93; varianza media extraída =,61; alfa de Cronbach =,90) y estabilidad temporal. Los datos de ajuste del modelo fueron excelentes: χ2 =27,68, gl=20, p=,117, χ2 /gl=1,38, GFI=,99, NFI=,98, NNFI=,99, CFI=,99, RMSEA=,023; RMSR=,029; además, el modelo examinado cumple los requisitos de validez convergente (cargas factoriales >,60 y t-value>1,96). La validez externa se exploró examinando la relación predictiva de la escala estudiada con la Sport Satisfaction Instrument adaptada a la Educación Física. La ETCS-EF presenta una potente relación de predicción con la satisfacción/diversión del alumnado en clase, mientras que es negativa con el aburrimiento. Así, a mayor competencia del docente, menor probabilidad de que los estudiantes se aburran en las clases. Se concluye, por tanto, que la escala ETCS-EF supone un instrumento contrastado y que sirve para evaluar la competencia docente del profesorado actual de EF (AU)

O objetivo desta pesquisa foi analisar as propriedades psicométricas da Evaluation of Teaching competencies Scale (ETCS) numa amostra espanhola de educação física no ensino secundário. Foi administrada a um total de 758 estudantes do ensino secundário de 12 a 18 anos. A estrutura do instrumento foi analisado por procedimentos de confirmação. As análises confirmam o modelo teórico na hipótese de origem. Os oito itens apresentaram homogeneidade e medidas aceitávels de consistência interna na escala (= fiabilidade composta, 93; variância média extraída = 61; alfa de Cronbach = 90) e estabilidade temporal. Os dados de ajuste foram excelentes: c2 = 27,68, df = 20, p =, 117, c2 / gl = 1,38, GFI = 99, NFI =, 98, NNFI = 99, = CFI, 99, RMSEA =, 023; = RMSR, 029; Além disso, o modelo examinado satisfaz os requisitos de validade convergente (cargas factoriais> 60 e t-value> 1,96). A validade externa foi explorada examinando a relação preditiva da escala de estudo co Sport Satisfaction Instrument adaptado para a educação física. O ETCS-EF tem um poderoso preditivo relacionamento satisfação /diversão dos alunos na aula, ao mesmo tempo que é negativo com respeito ao tédio. Assim, a maior competência do professor, menos provável que os alunos ficam chatos nas aulas. Concluímos, portanto, que a escala ETCS-EF constitui um instrumento comprovado para avaliar competência pedagógica dos professores atuais de educação física (AU)

The aim of this research was to analyze the psychometric properties of Evaluation of Teaching Competencies Scale (ETCS) in a Spanish sample of Physical Education in secondary education. It was administered to a total of 758 high school students from 12 to 18 years, analyzing the structure of the instrument using confirmatory procedures. The analyzes support the hypothesized theoretical model of origin, the eight items presented adequate measures and scale homogeneity acceptable internal consistency (composite reliability =.93; average variance extracted =.61; Cronbach’s alpha =.90) and temporal stability. The data were excellent model fit: χ2 =27.68, df=20, p=.117, χ2 /df=1.38, GFI=.99, NFI=.98, NNFI=.99, CFI=.99, RMSEA=.023; RMSR=.029; in addition, the examined model meets the requirements of convergent validity (factor loadings> 60 and t-value> 1.96). External validity was explored by examining the predictive relationship of the scale studied and the Sport Satisfaction Instrument adapted to Physical Education. The ETCS-EF has a powerful predictive relationship satisfaction / fun of students in class while it is negative with boredom. Thus, the higher teacher competence, the less likely that students get bored in class. We conclude, therefore, that the ETCS-EF scale is a proven instrument used to assess teacher competence of the current PE teachers (AU)