ابحاث علمية

Epidemiology of non-syndromic orofacial cleft (NSOFC) in Medina, Saudi Arabia
Non-syndromic orofacial cleft (NSOFC) is the most common orofacial congenital abnormality that is seen frequently around the world and has a birth prevalence rate ranging from 1/1000 to 2.69/1000 live birth amongst different parts of the world.[1, 2] Epidemiologic studies of NSOFC have been conducted worldwide, often resulting in varying prevalence rates. Differences in geographic and ethnic distributions may account for some but not all of the variations. Another determinant that can lead to the variation in rates is the system used to select the study group. Hospital-based records are frequently used in prevalence studies of NSCOFC, but the data are liable to ascertainment or selection bias and may lead to under reporting or over reporting of the prevalence of the cleft condition. [3-5] No study on the prevalence of NSOFC was carried out in Medina. Therefore, the aim of this study was to determine the epidemiology of non syndromic orofacial cleft (NSOFC) in Medina city, Saudi Arabia and to assess their relationship to consanguinity.

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Effects of cleft lip and palate on children’s psychological health: A systematic review

In recent decades, there has been a great increase in emphasis related to the rights of children in policy and research health, psychology and the wider society.1 Cleft lip and/or palate (CLP) is one of the most common congenital anomalies that affect the orofacial area. The cleft pathogenesis occurs because of failure of the fusion of numerous facial processes early in the embryonic development.2 Orofacial clefts involve the structures around the oral cavity and could be extended to the surrounding area in a comprehensive craniofacial deformity. The isolated cleft lips, with/or without the cleft palate, are the core categories that children could have as part of a child’s syndrome.3,4 Although there have been several attempts to record the frequency of birth defects,5 in some parts of the world, namely Africa, Asia, and Eastern Europe, there is no continuous availability of data on CLP frequency.6 In the Middle East, there is lack of data on CLP occurrence; there seems to be a general idea of facial cleft incidences in the region. A study by Fida et al. found that 1.9 orofacial malformations per 1000 live births were reported in the western area of KSA.7 Another hospital-based study in Riyadh found a high rate of cranial anomalies; 7.98 per 1000 pregnancies were reported at a women’s specialized hospital (King Fahad medical city).8 In the United Arab of Emirates, 0.3 per 1000 births had orofacial cleft congenital.9

In Oman, the rate of oral clefts was 1.5 per 1000 births; whereas in Jordan, it was at 2.4 facial orofacial clefts.10 Studies have shown that environment and genetics are considered as the core aetiology of CLP. Moreover, the deficiency of folic acid, maternal age, mothers who smoke or consume alcohol, and viral infection were all risk factors that correlated to cleft development.

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Environmental Risk Factors in the Etiology of Non-syndromic Orofacial Clefts in the Western Region of Saudi Arabia
Nonsyndromic orofacial clefting (NSOFC) is described in the literature as orofacial congenital defects that either occur in isolation or are associated with one major, or several rare, congenital abnormalities (Tolarova and Cervenka, 1998). These defects show significant ethnic and geographic variation and are the most common craniofacial birth defects in the world (Mossey and Modell, 2012). The etiology of NSOFCs has not been elucidated, although it is considered likely that they are multifactorial birth defects, caused by environmental and genetic factors working alone or in combination (Mossey et al., 2009). Previous research has proposed a number of factors including maternal medication use, infections, contact with chemicals/smoking during the first trimester, and consan-guinity (Czeizel et al., 1984; Rittler et al., 2001; Al-Bustan et al., 2002; Elahi et al., 2004; Leitte and Koifman, 2009; Al-Sahafi, 2010; Taghavi et al., 2012).

Geographic and ethnic variations have been shown to play a part in influencing the etiology and prevalence of NSOFC (Mossey et al., 2009). There has been little investigation into these factors in the Middle East. Yet the region provides a good location to study environmental interactions for NSOFC because the different geographic environments present a variety of factors that can be explored as possibly influencing NSOFC development. Also, the region has a wide mix of ethnicity, allowing a variety of factors to be explored. This variation makes Saudi Arabia, the largest country in the Middle East (with more than 300,000 births per year), a useful part of the world for studying NSOFC and looking into factors influencing the development of these anomalies. This setting also provided the opportunity to investigate a number of different factors unique to the Middle East and not previously investigated, including maternal drinking water supply and different types of tobacco smoking. One third of Saudi Arabian births are in the western region (Ministry of Health, 2008). The cities of Jeddah and Maddina have the highest populations of each area: Makkah and Medina in the western region (Central Department of Statistics and Information, 2013). This is the first reported multicenter case-control study on OFC in Saudi Arabia. The aim of this study was to investigate environmental risk factors and identify those with a relationship to NSOFC in the Western Region of Saudi Arabia.

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Interferon Regulatory Factor 6 (IRF6) and Gene – Environment Interactions in Non-Syndromic Orofacial Cleft Cases in Saudi Arabia-A Case Control Study
Mutations in interferon regulatory factor 6 (IRF6), located on 1q32.2, are responsible for the two autosomal dominant orofacial cleft syndromes, Van Der Woude and popliteal pterygium syndrome [1-3]. It was also the first identified nonsyndromic orofacial cleft (NSOFC) susceptibility locus [4] and has been the only candidate gene consistently found to have a significant association with NSOFC across multiple studies in many regions of the world, for example, China and Europe [5-7]. Blanton et al. [8] confirmed that the association between SNPs at IRF6 and NSOFC varied between ethnic groups and that there was a need for further evaluation of IRF6 variations across populations to better determine its role in NSOFC [8]. Gene-environment interactions (GEIs) have been suggested to play an important role in the etiology of NSOFC. Gene-environment interactions are defined as the co-participation of genetic and environmental risk factors in the same causal mechanism to promote disease development [9]. One of the important applications of GEI studies is to help public health researchers develop strategies for targeted intervention to allow risk-factor modification based on individual genetic profiles [10]. This study investigated whether (a) IRF6 was also associated with cleft lip with or without palate (CL(P)) and isolated cleft palate (CP) in Saudi Arabia and (b) there was any association between IRF6 polymorphisms (rs2013162, rs2235375, and rs2235371) and maternal environmental exposures, especially folic acid supplementation in the etiology of NSOFC.

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Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity
Non-syndromic orofacial clefting (NSOFC), including isolated cleft lip (CL), cleft lip and palate (CLP), and isolated cleft palate (CP), is the most common craniofacial defect worldwide with an estimated mean global prevalence of 1.25/1000 live births. However, the prevalence of NSOFC varies geographically and across different ethnic groups. Although the ethnicity of the Middle East is considered Caucasian,3,4 geographically it is located between 3 continents (Asia, Africa, and Europe), which makes it unique and, in reality, a mixture of 3 ethnicities. A small number of studies have measured the prevalence of NSOFC in Saudi Arabia and neighboring countries with the reported prevalence ranging from 0.3 to 2.19/1000 births,5-9 and a mean value for all studies of 1.25/1000 births.10 In addition, consanguineous relationships have been suggested to increase the prevalence of congenital anomalies. These were also reported to be associated with NSOFC in a meta-analysis carried out on 16 studies that assessed the relationship between NSOFC and paternal consanguinity. Saudi Arabia, one of the largest countries in the Middle East, has a high rate of consanguineous marriage that varies between regions. Riyadh, which is the capital city of Saudi Arabia with a population of approximately 7.5 million and birth prevalence of 38,000/year, has a consanguinity marriages prevalence of 60%.16 The aims of this study were to 1) describe the characteristics and prevalence of NSOFC (CL, CLP, and CP) in Riyadh (the capital city in the central region of Saudi Arabia), 2) describe the prevalence of NSOFC phenotypes, and 3) the relationship between these and consanguinity in Saudi Arabia.

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