Psychometric Properties of the Persian Version of Adult Eating Behavior Questionnaire in Patients with Epilepsy.

Background: Adult eating behavior questionnaire (AEBQ) is an age upward extension tool that measures appetite traits in individuals. This instrument was developed by Hunot in 2016. The present study aimed to determine the psychometric properties of the Persian version of AEBQ in adults with epilepsy. Methods: The current research is a cross-sectional study conducted in 2019 in Iran. 700 adults with epilepsy completed the 35-item AEBQ. Qualitative face validity, qualitative content and structure validity (exploratory factor analysis [EFA], N=400, and confirmatory factor analysis [CFA], N=300) appetitive traits were evaluated. Reliability was also measured using Cronbach's alpha, Construct reliability (CR), and Intra-Class Correlation (ICC). The SPSS 26-AMOS24 software was employed to analyze the data with a significance level of 0.05. Results: The EFA and CFA results comprised eight factors, namely enjoyment of food, emotional over-eating, food responsiveness, hunger, satiety responsiveness, emotional under-eating, food fussiness, and eating slowly. Indices of root mean square error of approximation=0.068, parsimonious normed fit index=0.644, parsimonious comparative fit index=0.671, adjusted goodness of fit index=0.618, goodness of fit index=0.911, and Chi square degree-of-freedom ratio (normalized Chi square CMIN/DF=2.842) confirmed the fitness of the final model. Convergent and divergent validity was acceptable for all the factors. The results revealed that the internal stability>0.8 and CR>0.7 of the eight extracted AEBQ structures are confirmed. The ICC was 0.899 (95% CI: 0.878-0.917; P<0.001). The results also showed that AEBQ has acceptable convergent and divergent validity. Conclusion: The eight-factor structure of AEBQ can measure eating behavior traits and is of good validity and reliability for assessing the eating behavior of Iranian adults with epilepsy.

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.

In this study, the role of known Parkinson's disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria. For disease gene/mutation identification, multiplex ligation-dependent probe amplification, quantitative PCR, linkage, and Sanger and whole genome sequencing assays were carried out. A total of 116 patients (50 families) were examined. Fifty-four patients (46.55%; 22 families) were found to carry pathogenic mutations in known genes while a novel gene, not previously associated with parkinsonism, was found mutated in a single family (2 patients). Pathogenic mutations, including missense, nonsense, frameshift, and exon rearrangements, were found in Parkin, PINK1, DJ-1, SYNJ1, and VAC14 genes. In conclusion, variable phenotypic expressivity was seen across all families.