Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.

This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnostic yield of WES in our cohort with ASD was 34%. Children with seizures were more likely to have positive WES results (46% vs. 31%, p = 0.042). Probands with suspected syndromic ASD aetiology showed no significant differential impact on the diagnostic yield of WES.

A SWOT analysis of parent-mediated intervention for children with autism spectrum disorder: Oman as a Regional Model.

The prevalence of autism in the Arabian Gulf region is on the rise leading to overstretching of the pre-existing intervention services. The World Health Organization Caregiver Skills Training Program is a novel renovation being studied around the globe to overcome the scarcity of resources, improve autistic children's outcome and empower parents with comparable results to therapist-based models. Recently, Oman achieved great success in advocating for autism and initiated the first screening program for autism in the region. This review aims to use a Strength, Weakness, Opportunities and Threats (SWOT) analysis matrix to investigate the potential for using a parent-mediated intervention program as a supplementary approach to the currently used therapist-based intervention model in the country as an example for Gulf region.

Maternal predictors of neonatal anthropometric measurements in the Sultanate of Oman.

This study aims to detect an association between potential maternal predictors and neonatal anthropometry in Oman. A retrospective cross-sectional study was conducted in Sultan Qaboos University Hospital, Oman, between November 2014 and November 2015. The study included all term healthy Omani neonate-mother pairs. Summary descriptive statistics of neonatal (N) weight (Wt), length (L), head circumference (HC), and potential maternal (M) characteristics were collected. Multiple linear regression analysis was used to assess associations between maternal predictors and neonatal anthropometry. The study cohort identified 2,783 eligible pairs. The data showed that parity, maternal weight (MWt), and height (MHt) explained a significant amount of the variance in birth weight (F-ratio = 115.4, p-value < 0.001, and R 2 adjusted = 0.12). MWt and MHt were significant predictors of length (F-ratio = 65.3, p-value < 0.001, and R 2 adjusted = 0.048). The predictors of HC were MWt, MHt, and parity (F-ratio = 53.1, p-value < 0.001, and R 2 adjusted = 0.57). Primiparous mothers were 2.2 times at greater risk of delivering low birth weight (LBW) newborns. There were no significant differences in anthropometric outcomes between consanguineous and nonconsanguineous groups. Maternal weight and height had significant positive associations with the three newborn anthropometric outcomes. Additionally, primiparity was associated with the increased risk of LBW. Consanguinity was not associated with LBW in term Omani neonates.

Intellectual Profile of Children with Autism Spectrum Disorder: Identification of verbal and nonverbal subscales predicting intelligence quotient.

OBJECTIVES: This study aimed to explore the intelligence quotient (IQ) profile among children with autism spectrum disorder (ASD) and identify the most important subscales that predict the IQ. The analysis of an intellectual profile with age and gender differentials and the identification of a battery of subscales of intelligence are important for clinical management of ASD among children and for facilitating placement for remedial and educational services. METHODS: Data were collected through an exploratory study of 100 children aged between three and 13 years, who were referred to the department of child health and development in Sultan Qaboos University Hospital, a tertiary hospital, in Oman between June 2016 and June 2019. RESULTS: Among the 100 participants of this study, 79% were male, resulting in a male-female ratio of 4:1. The mean of full-scale IQ was found to be 68.6 ± 18.1. Furthermore, the mean of nonverbal IQ (73.5 ± 17.5) was significantly higher than that of verbal IQ (65.5 ± 17.6). Finally, more than half (61%) of the children were observed to have had mild to moderate impairment in their IQ levels. CONCLUSIONS: Age and gender showed no significant association with IQ level. The regression analysis identified nonverbal fluid reasoning, nonverbal visual-spatial processing, nonverbal working memory and verbal knowledge as the significant predictors of total IQ. The crucial dimensions of verbal and nonverbal IQ identified in this study can be used to evaluate complicated cases.

Evaluation of the color stability of temporary materials produced with CAD/CAM.

BACKGROUND: If a temporary restoration is in the esthetic area and needs to be worn for a long time, the color stability of temporary materials becomes an important factor. OBJECTIVES: The aim of this in vitro study was to evaluate the long-term effects of various staining solutions on the color stability of different temporary materials produced with the computer-aided design and computer-aided manufacturing (CAD/CAM) technology. MATERIAL AND METHODS: In the study, the following materials were used: VITA CAD-Temp® (group 1); Ceramill® Temp (group 2); and Telio® CAD (group 3). Forty disk-shaped specimens (10 mm in diameter, 2 mm in thickness) of each material (N = 120) were produced with a CAD/CAM system. Staining solutions - of tea (A), of coffee (B) and cola (C) - and distilled water (D, control) were used, and color was evaluated before and after storing the samples in the solutions. Measurements were taken with a spectrophotometer and the color parameters (L*, a*, b*, and ΔE) were calculated according to the Commission internationale de l'éclairage system (CIELab). The results were evaluated with the two-way analysis of variance (ANOVA) and Tukey's tests (α = 0.05). RESULTS: Clinically perceivable (ΔE00 > 0.8) and statistically significant (p < 0.001) color differences were detected in all specimens. The highest ΔE00 value was found in the Ceramill Temp specimens. In addition, the highest ΔE00 values were noted for the specimens stored in cola and the coffee solution for all groups. The lowest ΔE00 value was observed for the groups stored in the tea solution. CONCLUSIONS: Clinically perceivable color changes were observed in all the specimens kept in the solutions. Color changes were greater for cola and coffee as compared to tea.

Interpreting Neonatal Growth Parameters in Oman: Are we doing it right?

OBJECTIVES: This study aimed to compare reference anthropometric measures of Omani neonates with the international standard growth charts of the World Health Organization (WHO) in order to determine the appropriateness of these growth charts to assess the growth of Omani neonates. METHODS: This cross-sectional study included all healthy full-term Omani neonates born between November 2014 and November 2015 at the Sultan Qaboos University Hospital, Muscat, Oman. Birth weight, length and head circumference measurements were identified and compared to those of the 2006 WHO growth charts. RESULTS: A total of 2,766 full-term neonates were included in the study, of which 1,401 (50.7%) were male and 1,365 (49.3%) were female. Mean birth weights for Omani males and females were 3.16 ± 0.39 kg and 3.06 ± 0.38 kg, respectively; these were significantly lower than the WHO standard measurements (P <0.001). Similarly, the mean head circumferences of Omani males and females (33.8 ± 1.27 cm and 33.3 ± 1.26 cm, respectively) were significantly lower than those reported in the WHO growth charts (P <0.001). In contrast, mean lengths for Omani males and females (52.0 ± 2.62 cm and 51.4 ± 2.64 cm, respectively) were significantly higher than the WHO standard measurements (P <0.001). CONCLUSION: The WHO growth charts might not be appropriate for use with Omani neonates; possible alternatives should therefore be considered, such as national growth charts based on local data.