Search

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., Competing Interests: JV-C received personal fees from Roche. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Vázquez-Costa, Payá-Montes, Martínez-Molina, Jaijo, Szymanski, Mazón, Sopena-Novales, ENoD Consortium, Pérez-Tur and Sevilla.)

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., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2020 Martínez-Molina, Argente-Escrig, Polo, Hervás, Frasquet, Cortés, Sevilla and Vázquez-Costa.)

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., (Copyright © 2020 Granero-Gallegos, Baños, Baena-Extremera and Martínez-Molina.)