Genetic Associations of Oral Clefts in Arabs.

OBJECTIVE: This study aims to investigate genetic association between Non-syndromic Cleft lip with or without palate (NCLP) and 14 specific Single Nucleotide Polymorphism (SNPs) reported to be associated with NCLP from previous Genome Wide Association Studies (GWAS). DESIGN: A prospective case-control study. SETTING: Ministry of Health (MOH) Cleft and Craniofacial Clinic and Kuwait University. PATIENTS/PARTICIPANTS: One hundred sixty-four NCLP patients were recruited from MOH Cleft and Craniofacial clinic, and 491 controls from the Kuwait DNA bank established at Kuwait University. INTERVENTIONS: Total gDNA was extracted from whole blood withdrawn from patients and genotyped by real time PCR. Hardy-Weinberg Equilibrium was tested, and the set p value for significance (p < 0.05) was adjusted using the Benjamini - Hoochberg procedure to achieve 5% false discovery rate. MAIN OUTCOME MEASURES: Logistic regression multivariate analysis was used to test statistically significant differences between cases and controls. Genotyping both groups for the variants was determined through the allele discrimination software program. RESULTS: There was statistically significant difference between cases and controls in relation to two SNPs; LOC102724968 (rs13041247) (MAF cases/control = C (0.28/0.39) OR Homozygous = 1.30; 95% CI = 1.09-1.56, p = 0.0041) and PVT1 (rs987525) (MAF cases/control = A (0.41/0.27) OR heterozygous = 1.48; 95% CI =1.12-1.95, p = 0.0073), increasing the susceptibility to NCLP. CONCLUSIONS: Genetic variations are associated with the occurrence of oral clefts. Customized Next Generation Sequencing (NGS) panel to the Arab ethnicity is encouraged. In Addition, national preconception genetic carrier screening tests should expand to include common craniofacial anomalies.

Seasonal, Geographic, and Ethnic Influence on the Prevalence of Orofacial Clefts in Kuwait: A Nationwide Study.

OBJECTIVE: Accurate nationwide epidemiological evidence is vital to study the seasonal, geographic, and ethnic influence on the trends of orofacial cleft prevalence in Kuwait. DESIGN: Data obtained from the National Center for Health Information and Ministry of Health Hospital digital records were reviewed retrospectively to identify patients with orofacial clefts (OFC) using the ICD-10 diagnostic codes. The Jonckheere-Terpstra test was used to assess the trend of birth prevalence across the different years. The associations of types of OFC with ethnic and geographic influences were tested with chi-square or Fisher's exact tests, while the strength of that association was tested with multi-nominal logistic regression. RESULTS: Birth prevalence in Kuwait ranged from 0.75-2.55 per 1000 live births (0.73- 2.73 among Kuwaitis, 0.60-3.27 among non-Kuwaitis), with no statistically significant change observed during the past 28 years. The risk of unilateral cleft lip and palate was eight times higher during summer compared to Autumn, while the risk of cleft lip and palate remained lower during winter. Jahra (OR-7.76, CI- 1.51-39.80), Farwaneya (OR-6.65, CI- 1.34-33.06), and Hawalli (OR-6.72, CI- 1.26-35.98) governorates had higher odds of bilateral cleft lip when compared to Mubarak Alkabeer. CONCLUSIONS: The study outcome is an indicator to improve patient care and customize healthcare infrastructure in the Ministry of Health. It also provides insight to develop projections of future needs. Future studies should focus on understanding the factors that might be a potential contributor to the seasonal change observed in the prevalence of OFC.

Objective treatment outcome assessment of a completely customized lingual appliance: A retrospective study.

OBJECTIVE: To assess the outcome quality of subjects treated with a completely customized lingual appliance (CCLA) in a postgraduate university program, using the ABO Objective Grading System (OGS), by testing the null-hypothesis of a significant proportion of post-treatment cases exceeding an adjusted 'exam failure' threshold value of OGS=24. MATERIALS AND METHODS: This retrospective single-arm study included 66 consecutively debonded CCLA cases (m/f 19/47; mean age: 25.1±9 years) treated at Hannover Medical School (MHH, Hannover, Germany). The discrepancy index (DI) was assessed on initial plaster casts. The OGS of the cast-radiograph evaluation was scored for both set-up and post-treatment casts, including the seven components of alignment/rotation, marginal ridges, buccolingual inclination, overjet, occlusal contacts, occlusal relationships and interproximal contacts, to parameterize differences between those. RESULTS: DI score distribution (≥20, <20) was 25 (37.9%)/41 (62.1%) subjects. Mean initial DI was 17.3±8.5. Mean set-up OGS was 10.4±4.4 (min-max: 3-21), mean final OGS was 17.7±5.9 (min-max: 7-33), and the difference 7.3 (post-treatment - set-up) was statistically significant (p<0.0001; 95% CI [5.8, 8.7]). The null-hypothesis was rejected: A statistically significant proportion of the final casts (n=58; 87.8%) scored below OGS=24 by exact binomial test (P<0.0001; 95% CI [77.5%, 94.6%]). The rate of a final OGS score<24 was not significantly different (P=0.98) between both DI (≥20, <20) groups. CONCLUSIONS: The outcome quality of the CCLA treatment in this postgraduate university setting was high and therefore sufficient for a vast majority of treated cases to pass the ABO-OGS clinical examination.

NAM Therapy-Evidence-Based Results.

Many orthodontists working on patients with cleft lip and palate (CLP) have shown great enthusiasm for presurgical infant orthopedics (PSIO) to improve surgical outcomes with minimal intervention. Even though every clinician aims to use the best treatment modality for their patients, PSIO effects can be confounded by surgical type and timing of the primary repair, as is discussed in many studies. In such cases, one should be cautious when evaluating the particular outcomes for patients with CLP since it is difficult to differentiate the sole effect of an individual surgical or orthodontic intervention. As with any treatment methodology, nasoalveolar molding (NAM) has both benefits and limitations. Commonly cited concerns with NAM, and PSIO in general, include increased cost, increased burden of care, and a negative impact on maxillary growth. However, NAM cannot be deemed as having apparent long-term negative or positive effects on skeletal or soft tissue facial growth, based on previous studies. A review of the literature suggests that NAM does not alter skeletal facial growth when compared with the samples that did not receive PSIO. Nevertheless, the published studies on NAM show evidence of benefits to the patient, caregivers, the surgeon, and society. These benefits include documented reduction in severity of the cleft deformity prior to surgery and as a consequence improved surgical outcomes, reduced burden of care on the care givers, reduction in the need for revision surgery, and consequent reduced overall cost of care to the patient and society.

The Effects of Presurgical Nasoalveolar Molding on the Midface Symmetry of Children with Unilateral Cleft Lip and Palate: A Long-term Follow-up Study.

BACKGROUND: Midface symmetry is an important indicator of success of complete unilateral cleft lip and palate (CUCLP) treatment. There is little literature on the long-term effects of presurgical nasoalveolar molding (PNAM) on midface symmetry in children treated for CUCLP. This study aimed to compare children with CUCLP who underwent PNAM before surgical interventions, children who did not receive PNAM, and age- and sex-matched controls in terms of midface symmetry. METHODS: We evaluated 39 frontal facial photographs of 13 patients with CUCLP who underwent PNAM as part of the treatment (group 1: PNAM), 13 patient with CUCLP who did not undergo PNAM (group 2: no nasoalveolar molding), and 13 age- and sex-matched controls. The children were evaluated in their fifth year of life. Three midline and 3 bilateral orthopometric midface landmarks were programmed using a custom software (OnyxCeph3, Image Instruments GmbH, Germany), and corresponding linear measurements from the midline were obtained and compared between the groups using 1-way analysis of variance and Scheffe's post hoc test. RESULTS: Significant differences were observed between the control and CUCLP groups for the measurements of the proanasale, subnasale, and zygion. However, there were no significant differences between the PNAM and no nasoalveolar molding groups for the 6 midface landmarks. CONCLUSIONS: PNAM does not seem to significantly impact the long-term midface symmetry in children with CUCLP.

Birth Prevalence of Orofacial Clefts in Kuwait From Hospital-Based Registration: Retrospective Study.

INTRODUCTION: Cleft lip and palate (CLAP) are the most common craniofacial anomalies and birth defects globally. Despite the fact that a tertiary care registry of clefts has existed in Kuwait since 2008, to date there is no published data regarding the prevalence of orofacial clefts in this population. OBJECTIVE: To tabulate the pattern of orofacial clefts from tertiary care center registration during 2009 through 2014 and to estimate the prevalence and trend using population-based records. METHODOLOGY: Data from all CLAP cases (born in Kuwait) registered in the central cleft center registry of the Al-Amiri hospital, Kuwait City, Kuwait, from January 2009 to December 2014 were obtained. Data regarding the type, severity, gender as well as nationality, parental consanguinity, and associated syndrome were obtained from medical records. Birth prevalence was tabulated against the population statistics for the period obtained from the central department of statistics. RESULT: A total of 202 CLAP patients were recorded in the study period with a mean birth prevalence of 0.57 per 1000 live births (95% confidence interval [CI] .57 ± .23). The registry recorded 108 (53.2%) males and 94 (47.8%) females. Children born to Kuwaitis represented 53.7% of cases while those born to non-Kuwaitis represented 45.3%. The most common oral cleft was CLAP (47.3%), followed by cleft palate (30.5%), cleft lip (20.2%), and other facial clefts (2%). Other congenital anomalies were recognized in 33% of all cases. There were no statistically significant differences in oral cleft prevalence across gender or nationality. CONCLUSION: The prevalence of oral cleft in Kuwait appears to be similar to those of other Middle Eastern populations.