Background: A recently published validated classification system divides all orofacial cleft (OFC) subphenotypes into groups based on underlying developmental mechanisms, that is, fusion and differentiation, and their timing, that is, early and late periods, in embryogenesis of the primary and secondary palates. Aims: The aim of our study was to define gender differences in prevalence for all subphenotypes in newborns with OFC in the Netherlands. Methods: This was a retrospective cross-sectional study on children with OFC born from 2006 to 2016. Clefts were classified in early (E-), late (L-), and early/late (EL-) embryonic periods, in primary (P-), secondary (S-), and primary/secondary (PS-) palates, and further divided into fusion (F-), differentiation (D-), and fusion/differentiation (FD-) defects, respectively. Results: A total of 2089 OFC children were analyzed (1311 males and 778 females). Orofacial cleft subphenotypes in females occurred significantly more frequent in the L-period compared to males (66% vs 55%, P = .000), whereas clefts in males occurred significantly more in the EL-periods (40% vs 27%, P = .000). Females had significantly more S-palatal clefts (42% vs 23%, P = .000), while males had significantly more PS-palatal clefts (44% vs 30%, P = .000). Furthermore, the clefts in females were significantly more frequent the result of an F-defect (60% vs 52%, P = .000). Conclusions: Orofacial cleft in females mainly occur in the L-period are mostly S-palatal clefts, and are usually the result of an F-defect. Orofacial cleft in males more commonly occur in the EL-periods, are therefore more often combined PS-palatal clefts, and are more frequent D- and FD-defects.
Significant treatment variation exists in the Netherlands between teams treating patients with cleft lip, alveolus, and/or palate, resulting in a confusing and undesirable situation for patients, parents, and practitioners. Therefore, to optimize cleft care, clinical practice guidelines (CPGs) were developed. The aim of this report is to describe CPG development, share the main recommendations, and indicate knowledge gaps regarding cleft care. Together with patients and parents, a multidisciplinary working group of representatives from all relevant disciplines assisted by two experienced epidemiologists identified the topics to be addressed in the CPGs. Searching the Medline, Embase, and Cochrane Library databases identified 5157 articles, 60 of which remained after applying inclusion and exclusion criteria. We rated the quality of the evidence from moderate to very low. The working group formulated 71 recommendations regarding genetic testing, feeding, lip and palate closure, hearing, hypernasality, bone grafting, orthodontics, psychosocial guidance, dentistry, osteotomy versus distraction, and rhinoplasty. The final CPGs were obtained after review by all stakeholders and allow cleft teams to base their treatment on current knowledge. With high-quality evidence lacking, the need for additional high-quality studies has become apparent.
Background: In the multifactorial etiology of orofacial clefts (OFCs), environmental factors play an important role. To trace the influence of these factors, the timing of the cell biological mechanisms that occur during embryological development of the primary and secondary palates must be taken into account. That is, the fusion process of the facial and palatal processes, respectively, followed by their differentiation into bone and musculature, which take place during the first trimester of pregnancy. During this period, harmful seasonal influences such as viral infections and vitamin deficiencies could induce OFC in the embryo. Aims: The aim of this study is to find out whether a seasonal conception period with an increased risk of OFC development exists, particularly gender related. Methods: This was a retrospective cross-sectional study on children with OFC born in the Netherlands from 2006 to 2016. Total conception rates of live births in the Netherlands were used as a control group. χ2 tests were performed to analyze monthly and seasonal differences. Males and females, positive and negative family history and subphenotype groups based on fusion and/or differentiation (F- and/or D-) defects, and their timing in embryogenesis were analyzed separately. Results: In total, 1653 children with OFC, 1041 males and 612 females, were analyzed. Only males with FD-defects showed a significant seasonal variation with an increase in conceptions during spring, most often in May. Conclusions: Males with FD-defects showed a significant seasonal variation with an increase in conceptions during spring. No other seasonal trends could be demonstrated.
Background Literature suggests that patient-informing process prior to obtaining surgical informed consent (SIC) does not function well. This study aimed to provide insight into the current practice of SIC in the Netherlands. Methods This is a prospective, observational, and multicenter study, conducted in one academic and two nonacademic teaching hospitals in the Netherlands. Audio recordings were made during outpatient consultations with patients presenting with Dupuytren Disease. The recorded informing process was scored according to a checklist. Written documentation of the SIC process in the patient's chart was compared to these scored checklists. Time spent on SIC during the consultations was also recorded. Results A total of 41 outpatient consultations were included in the study. Consultations were conducted by 25 plastic surgeons and their residents. Average time spent on SIC was 55.6% of the total consultation time. Considerable variation was observed concerning the amount and type of information given and discussed. In 59% of the consultations, discrepancies were observed between written documentation of consultations and audio recordings. Information on treatment risks, the postoperative period, and the operating surgeon was addressed the least. Conclusion Despite a relatively large part of the consultation time being spent on SIC, patients received scarce information concerning treatment risks, postoperative period, and who their operating surgeon would be. Discrepancies were observed between the written documentation of SIC and information recorded on the audio recordings. This occurred predominantly in one hospital that used a pre-made list of 'discussed information' in its digital patient chart.
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