Many charitable organizations conduct overseas missions to correct cleft lip and palate where surgical care is hard to obtain. However, little is known about genetic backgrounds, cultural and societal attitudes regarding the cleft deformity. A questionnaire has been designed to elicit these attitudes. The questionnaire was administered to 50 families of children with cleft lip seeking care at Operation Smile missions in each of 2 disparate rural communities, one in the state of Gujarat in India and the other in the upper Nile valley in Egypt. Saliva and blood samples were collected from all patients to investigate MSX1, IRF6, PVRL1, MHC class I chain related (MICA), TP73L, MTHFR, TGF-beta3, and RAR alpha genes, within a proposed multinational genetic research project for cleft causation using micro-array and polymerase chain reaction (PCR) methods. All patients had been operated and experienced good results through the follow-up period, which was ranging from 3-24 months. Demographic data defined literacy and educational level; answers established the degree of social isolation, the impact on the family, and the expectations of what surgery would accomplish for the child. Beliefs concerning the causation of the cleft were explored in detail. Knowledge of these issues is important for the more complete care of children in an unfamiliar cultural environment.
Nonsyndromic cleft lip with or without cleft palate is a common birth defect with a wide range of prevalence among different populations, apparently highest in Asians and Amerindians and lowest in Africans. Recent genomewide association studies of European-derived and Asian populations have identified six confirmed loci for this phenotype: 1p22.1, 1q32.2 (IRF6), 8q24, 10q25.3, 17q22, and 20q12. However, there have thus far been no studies of these loci in African patients with nonsyndromic cleft lip with or without cleft palate. We carried out association analysis of SNPs in these six candidate chromosomal regions in 128 nonsyndromic cleft lip with or without cleft palate cases and 105 controls from the Rift Valley of Kenya. We observed no apparent association of this phenotype with any of these SNPs, though there was strong statistical power only for 8q24. These results indicate that at least the 8q24 locus does not play a major role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate in east Africa, supporting locus heterogeneity for susceptibility to this phenotype among different major populations of the world.
Objective : To describe and compare the causal beliefs associated with cleft lips and/or palates across several different countries. Design : Cross-sectional survey. Setting : Operation Smile surgery screenings in six developing countries. Participants : Two hundred seventy-nine adult patients and parents of children with cleft lips and/or palates in Kenya, Russia, Cambodia, India, Egypt, and Peru. Interventions : In person interviews were conducted with interpreters. Main Outcome Measure : As part of a larger study, a semistructured questionnaire was created to explore cleft perceptions, belief systems that affect these perceptions, and social reactions to individuals with clefts. Results : Causal attributions were grouped by category (environment, self-blame, supernatural, chance, unknown, or other) and type of locus of control (external, internal, or unknown). Results indicate significant difference by country for both causal attribution category (P < .001) and type (P < .001). This difference was maintained in multivariate analyses, which controlled for differences by demographic variables between countries. Conclusions : This study provides evidence that causal attributions for clefts are influenced by culture. As harmful beliefs about cause may continue to impact affected individuals and their families even after a repair, it is insufficient to provide surgical care alone. Care of the entire person must include attempts to change misinformed cultural beliefs through educating the broader community.
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