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Introduction: Autosomal dominant pathogenic variations in the CSNK2A1 gene cause Okur-Chung neurodevelopmental syndrome (OCNDS). Methods: The proband and her parents were examined thoroughly and observed for any issues related to OCNDS. Furthermore, peripheral blood samples were collected from each subject for further investigations. Whole-exome sequencing identified a pathogenic variant in CSNK2A1 (NM_001895: c.62G>A, p.R21Q; rs1402734448). Results: The proband has global developmental delay, speech disorders, epilepsy, and behavioral issues. Despite the previously reported cases, she manifested both atonic and myoclonic seizures simultaneously. Lastly, we provide a review of the reported cases with OCNDS. Discussion: p.R21Q causes OCNDS. Further studies are highly recommended concerning this mutation to validate the results of this study and expand the knowledge regarding CSNK2A1 and the phenotypic spectrum of OCNDS.
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UNLABELLED: Physical exercise would improve postural stability, which is an essential factor in preventing accidental fall among the elderly population. The aim of this study is to examine the effectiveness of treadmill walking on balance improvement among the elderly people. A total of 30 community dwelling older adults with a Berg Balance Scale score of 36-48 and the ability to walk without aid were considered and divided into control (n=15) and experimental (n=15) groups. Individuals in the experimental group participated in 30 minutes of forward and backward treadmill training based on three times a week interval for a period of four weeks. Individuals in the control group were instructed to continue with their daily routine activity. Before and after training, gait speed was measured by six-minute walk test and balance ability was evaluated by Fullerton Advanced Balance Scale (FABS) and Berg Balance Scale (BBS) tests. Postural sway items such as the Center of Pressure (COP), average displacement and velocity were evaluated by using a force platform system. Data were collected in quiet standing, tandem position and standing on foam pads before and after intervention. After intervention, balance variables in the experimental group indicated a significant improvement in quiet standing on firm and foam surfaces, but no considerable improvement was shown in tandem position. A between-group comparison showed a significant reduction in COP velocity in the sagittal plane (P=0.030) during quiet standing and in the frontal plane (P=0.001) during standing on foam, whereas no significant reduction in COP parameters during tandem position was found. It is recommended that twelve sessions of forward and backward treadmill walk are effective in balance improvement in elderly people. TRIAL REGISTRATION NUMBER: IRCT201209199440N2.