'Less is more': validation with Rasch analysis of five short-forms for the Brain Injury Rehabilitation Trust Personality Questionnaires (BIRT-PQs).

Background: Previous analyses demonstrated a lack of unidimensionality, item redundancy, and substantial administrative burden for the Brain Injury Rehabilitation Trust Personality Questionnaires (BIRT-PQs). Objective: To use Rasch Analysis to calibrate five short-forms of the BIRT-PQs, satisfying the Rasch model requirements. Methods: BIRT-PQs data from 154 patients with severe Acquired Brain Injury (s-ABI) and their caregivers (total sample = 308) underwent Rasch analysis to examine their internal construct validity and reliability according to the Rasch model. Results: The base Rasch analyses did not show sufficient internal construct validity according to the Rasch model for all five BIRT-PQs. After rescoring 18 items, and deleting 75 of 150 items, adequate internal construct validity was achieved for all five BIRT-PQs short forms (model chi-square p-values ranging from 0.0053 to 0.6675), with reliability values compatible with individual measurements. Conclusions: After extensive modifications, including a 48% reduction of the item load, we obtained five short forms of the BIRT-PQs satisfying the strict measurement requirements of the Rasch model. The ordinal-to-interval measurement conversion tables allow measuring on the same metric the perception of the neurobehavioral disability for both patients with s-ABI and their caregivers

The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations

Background: Data from published studies about the effect of HFE polymorphisms on ALS risk, phenotype, and survival are still inconclusive. We aimed at evaluating whether the p.H63D polymorphism is a modifier of phenotype and survival in SOD1-mutated patients. Methods: We included 183 SOD1-mutated ALS patients. Mutations were classified as severe or mild according to the median survival of the study population. Patients were screened for the HFE p.H63D polymorphism. Survival was calculated using the Kaplan-Meier modeling, and differences were measured by the log-rank test. Multivariable analysis was performed with the Cox proportional hazards model (stepwise backward). Results: SOD1 severe mutation carriers show more frequent familial history for ALS and shorter survival compared to mild mutation carriers. Carriers and non-carriers of the p.H63D polymorphism did not differ in terms of sex ratio, frequency of positive familial history, age at onset, and bulbar/spinal ratio. In univariate and in Cox multivariable analysis using sex, age at onset, site of onset, family history, country of origin, and mutation severity as covariates, p.H63D carriers had a longer survival (p = 0.034 and p = 0.004). Conclusions: We found that SOD1-mutated ALS patients carrying the p.H63D HFE polymorphism have a longer survival compared to non-carriers, independently of sex, age and site of onset, family history, nation of origin, and severity of mutations, suggesting a possible role as disease progression modifier for the p.H63D HFE polymorphism in SOD1-ALS

The state of food systems worldwide in the countdown to 2030

This Analysis presents a recently developed food system indicator framework and holistic monitoring architecture to track food system transformation towards global development, health and sustainability goals. Five themes are considered: (1) diets, nutrition and health; (2) environment, natural resources and production; (3) livelihoods, poverty and equity; (4) governance; and (5) resilience. Each theme is divided into three to five indicator domains, and indicators were selected to reflect each domain through a consultative process. In total, 50 indicators were selected, with at least one indicator available for every domain. Harmonized data of these 50 indicators provide a baseline assessment of the world’s food systems. We show that every country can claim positive outcomes in some parts of food systems, but none are among the highest ranked across all domains. Furthermore, some indicators are independent of national income, and each highlights a specific aspiration for healthy, sustainable and just food systems. The Food Systems Countdown Initiative will track food systems annually to U. Rashid Sumaila, Maximo Torero Cullen, Francesco N. Tubiello, Jose-Luis Vivero-Pol, Patrick Webb & Keith Wieb

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

It Flows Both Ways: Relationships between Families and Educators during the COVID-19 Pandemic

This is a critical moment of extraordinary rates of teacher burnout exacerbated by the COVID-19 pandemic. In order to implement effective intervention and policy, we must identify the drivers of educators’ stress and factors that may act as protective mechanisms. The complexity of this problem calls for a social–ecological approach. In this study, we investigated the impact of individual, organizational, and relational factors on educators’ pandemic-related stress. Using hierarchical multiple regression, we found that secondary traumatic stress and family, school, student, and community relationships significantly predicted pandemic-related stress after controlling for race, age, and gender. Family, school, and community collaboration is well-documented to benefit students; however, our results suggest that these relationships also benefit teachers, and may have been a protective factor on pandemic-related stress. That is, the positive influence of family, school, and community relationships flows both ways—to students and their families as well as to educators. Our findings highlight the importance of more research on secondary traumatic stress and home–school–community collaborations to mitigate teacher stress and burnout, as well as the implication for practice to increase emphasis on these issues in teacher preparation and ongoing professional development

It Flows Both Ways: Relationships between Families and Educators during the COVID-19 Pandemic

This is a critical moment of extraordinary rates of teacher burnout exacerbated by the COVID-19 pandemic. In order to implement effective intervention and policy, we must identify the drivers of educators’ stress and factors that may act as protective mechanisms. The complexity of this problem calls for a social–ecological approach. In this study, we investigated the impact of individual, organizational, and relational factors on educators’ pandemic-related stress. Using hierarchical multiple regression, we found that secondary traumatic stress and family, school, student, and community relationships significantly predicted pandemic-related stress after controlling for race, age, and gender. Family, school, and community collaboration is well-documented to benefit students; however, our results suggest that these relationships also benefit teachers, and may have been a protective factor on pandemic-related stress. That is, the positive influence of family, school, and community relationships flows both ways—to students and their families as well as to educators. Our findings highlight the importance of more research on secondary traumatic stress and home–school–community collaborations to mitigate teacher stress and burnout, as well as the implication for practice to increase emphasis on these issues in teacher preparation and ongoing professional development

Cognition in COVID-19 infected patients undergoing invasive ventilation: results from a multicenter retrospective study.

A growing number of scientific contributions suggest that COVID-19 infection can lead to impairment of cognition, mainly in executive functions and memory domains, even in the absence of frank neurological pathologies. The primary objective of this retrospective study is to evaluate the frequency and type of inefficiencies in a selection of cognitive tests administered to a sample of subjects who, following infection, required invasive assisted ventilation and were admitted to rehabilitation wards for the treatment of functional impairment. Fifty-seven subjects were enrolled. The recruited patients undergone an assessment of verbal and visuospatial memory and executive functions, upon entry into the rehabilitation department, after discharge from intensive care. The following tests were administered: Rey Auditory Verbal Learning Test (AVLT) (immediate and delayed recall), Rey-Osterrieth Complex Figure Test (ROCFT) (copy and delayed recall), Stroop Color-Word Test, and Trail Making Test (TMT, A and B). Deficient scores, in beyond 25% of subjects, were found in the copy of the ROCFT (32.1% of subjects), and in the delayed recall of ROCFT (27.2%). Between 10 and 20% of patients presented an abnormal result in delayed recall of AVLT (16.07%), and Stroop Test (time, 15.6%, error, 11.5%). Less than 10% of the sample had abnormal performances on TMT (A, 3.5%, and B, 9.4%), and in AVLT immediate recall (8.9%). Correlations of the performances with age, sex, and education were also found. This paper highlights the high incidence of abnormal cognitive performances in this specific subpopulation of patients with COVID-19 infection

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of <i>C9ORF72</i>

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ∼40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic lateral sclerosis cases (21 of Sardinian ancestry) and 41 German index familial amyotrophic lateral sclerosis cases. Pathogenic repeat expansions were detected in 45 (37.5%) patients from mainland Italy, 12 (57.1%) patients of Sardinian ancestry and nine (22.0%) of the 41 German index familial amyotrophic lateral sclerosis cases. The disease was maternally transmitted in 27 (49.1%) pedigrees and paternally transmitted in 28 (50.9%) pedigrees (P = non-significant). On average, children developed disease 7.0 years earlier than their parents [children: 55.8 years (standard deviation 7.9), parents: 62.8 (standard deviation 10.9); P = 0.003]. Parental phenotype influenced the type of clinical symptoms manifested by the child: of the 13 cases where the affected parent had an amyotrophic lateral sclerosis–frontotemporal dementia or frontotemporal dementia, the affected child also developed amyotrophic lateral sclerosis–frontotemporal dementia in nine cases. When compared with patients carrying mutations of other amyotrophic lateral sclerosis-related genes, those with C9ORF72 expansion had commonly a bulbar onset (42.2% compared with 25.0% among non-C9ORF72 expansion cases, P = 0.03) and cognitive impairment (46.7% compared with 9.1% among non-C9ORF72 expansion cases, P = 0.0001). Median survival from symptom onset among cases carrying C9ORF72 repeat expansion was 3.2 years lower than that of patients carrying TARDBP mutations (5.0 years; 95% confidence interval: 3.6–7.2) and longer than those with FUS mutations (1.9 years; 95% confidence interval: 1.7–2.1). We conclude that C9ORF72 hexanucleotide repeat expansions were the most frequent mutation in our large cohort of patients with familial amyotrophic lateral sclerosis of Italian, Sardinian and German ancestry. Together with mutation of SOD1, TARDBP and FUS, mutations of C9ORF72 account for ∼60% of familial amyotrophic lateral sclerosis in Italy. Patients with C9ORF72 hexanucleotide repeat expansions present some phenotypic differences compared with patients with mutations of other genes or with unknown mutations, namely a high incidence of bulbar-onset disease and comorbidity with frontotemporal dementia. Their pedigrees typically display a high frequency of cases with pure frontotemporal dementia, widening the concept of familial amyotrophic lateral sclerosis

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1523 from mainland Italy. Sixty (3.7%) of 1624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally matched control samples (1238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified dementia was also detected in 19 pedigrees (27.5%) in first-degree relatives of ALS patients. Cases carrying the C9ORF72 hexanucleotide expansion survived 1 year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucleotide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the most common mutation in Italy and the second most common in Sardinia