Normative and Equated Data of the Original and Basic Versions of the Montreal Cognitive Assessment among Community Dwelling Saudi Arabians

Introduction. Currently, there are standard and basic versions of the MoCA, the latter designed for those with lower educational achievements. Community-based normative data on these versions of the MoCA from Arabic populations are deficient, and there is little data demonstrating how both scales perform in comparison. We aim to obtain normative performances from both versions and equate the measures of both scales. Methods. Community-based recruitment of healthy volunteers≥18 years of age. Participants underwent testing with both versions. Demographic data was collected with regard to age, gender, years of education, diabetes, and hypertension. Regression analysis was performed to determine significance of variables, and the circle-arc equating method was used to equate the two scores from each scale. Results. 311 participants were included in the study. The mean (sd) age was 45.8 (15.96), females were 184 (59.16%), and the duration of education was 12.7 (5.67) years. The mean scores on the MoCA-A and MoCA-B were 21.47 (4.53) and 24.37 (4.71) (P<0.0001), respectively. Multivariate regression showed significance of age and years of education in both versions (both variables with P<0.0001). Correlation coefficient between the two scales was 0.77 (P<0.0001). The largest equated difference between both MoCA versions was four points in those scoring from 10-20 on the MoCA-A. Conclusion. We present normative data from a large Saudi Arabian community-based sample with two different MoCA tests, and an equating graph is presented to determine the corresponding expected performance between the two scales

Prevalence, Predictors, and Awareness of Coffee Consumption and Its Trend among Saudi Female Students

This study aimed to investigate the prevalence, trends, and predictors of coffee consumption among Saudi female students and its association with anthropometric and demographic variables. A survey-based study using a face-to-face interview was designed, and 930 (aged 21.5 &plusmn; 2.1 years) apparently healthy female students from different departments of King Saud University participated. The prevalence of coffee consumption was significantly higher (88.2%, p &lt; 0.03) in the central Riyadh region. Coffee consumers had significantly higher prevalence of being overweight than non-consumers (p = 0.02). The frequency of coffee consumption was significantly higher (p &lt; 0.02) in students who were single and belonged to families with a moderate income level. Coffee consumption was significantly higher among first-year students with a high-scale grade point average (GPA) (p &lt; 0.001 and p = 0.03, respectively). Increased coffee consumption during exam and stress conditions was associated with unhealthy dietary habits such as using more sugar and spices. The prevalence of coffee consumption was high among Saudi females. High body mass index (BMI) and increased family income level were strong determinants for coffee consumption. Continued nutritional education and awareness about the potential positive and negative health effects of coffee consumption and the importance of food label use should be provided to younger generations in order to correct the wrong perceptions

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications. CC BY 4.0© 2022 The AuthorsCorrespondence: [email protected] (A.E.X.B.), [email protected] (K.P.)We thank all families that participated in this study. This project has received funding from the European Research Council under the European External Action Service Horizon 2020 Research and Innovation Program (grant agreement no. 714853) and was supported by the Medical Research Council through grant MC-A658-5TY30. H.T. was supported by the European External Action Service Seventh Framework Programme for research, technological development, and demonstration under grant agreement no. 608473.</p