Surgical Treatment of Lip Pits in Van der Woude Syndrome: A Preliminary Retrospective Study of 24 Patients.

BACKGROUND: Van der Woude syndrome (VWS) is a rare congenital malformation characterized by lower lip pits among patients with a lip and/or palate cleft. It is transmitted by an autosomal dominant inheritance with variable expressivity. METHODS: The study group consisted of 24 consecutive patients (13 males and 11 females) with VWS operated on at a single center between 2009 and 2022. They suffered from: bilateral cleft lip and palate - 6 patients; unilateral cleft lip and palate - 9 patients; cleft lip - 1 patient; and isolated cleft palate - 8 patients. RESULTS: In 16 (66%) cases pits of lower lip occurred on both side of midline, while in 8 (34%) the pits were detected unilaterally. The primary cleft repairs were performed according to one-stage principle at the mean age of 8.6 months (SD 1.4, range 6-12). In all patients lower lip pits repairs were performed after the primary cleft repairs as a separate procedure at the mean age of 37 months (SD 11.3 range 14-85). The mean number of all primary repairs of the syndrome-both cleft defect and lower lip pits repairs-was 2.46. Nine patients (37.5%) required additional secondary corrections of the lower lip due to the poor aesthetic post-operative outcome. CONCLUSIONS: The frequent need for secondary corrections of residual lower lip deformities indicates the considerable difficulties in obtaining a satisfactory outcome of the repairs to lip pits caused by VWS. The average number of the primary surgical interventions in evaluated material remained low.

Evaluating structure and content of parent-implemented early logopaedic intervention models following the three stages of communicative development in children with cleft lip and/or palate: Systematic literature review with narrative synthesis.

BACKGROUND: The development of communication, speech and language follows three stages (development of the parent-child relationship, interactions and actual speech and language acquisition). Children born with cleft lip and/or palate are at increased risk of communicative problems while parents may be going through an emotionally difficult time. Early parent-implemented logopaedic intervention that supports both parents and child is important. Three systematic reviews have examined the effects of early speech and language interventions, but not their structure and content. AIMS: To investigate which early parent-implemented logopaedic interventions already exist for children with cleft lip and/or palate, and to evaluate their structure, content and time of onset against the three stages of communicative development. METHODS: Six databases (PubMed, Embase, Web of Science, APA PsycInfo, Cinahl and Scopus) were searched between inception and 31 March 2023 to identify published articles that reported early parent-implemented logopaedic interventions in children with cleft lip and/or palate, aged 0 to 3 years, clearly describing the strategies used to train parents. Two authors independently assessed the eligibility of the studies. Quality assessment was conducted using the Physiotherapy Evidence Database quality assessment tool, Single-Case Experimental Design tool and the National Institutes of Health pre-post-study tools. The structure and content of the interventions were analysed taking into account the needs and difficulties of both the parents and the child according to the three stages of communicative development. MAIN CONTRIBUTION: The systematic literature search identified four studies that met the inclusion criteria. Three of them had a Level of Evidence III and one study had a Level of Evidence IV. Strategies appropriate for Stage 1 of communicative development (parent-child relationship) are well represented in only one study, but the psychosocial needs of parents are currently not included in these programmes. However, research shows that parental emotional difficulties can adversely impact a child's communicative development. Strategies appropriate for Stage 2 (promoting social interactions) are better represented. However, strategies appropriate for Stage 3 (acquiring correct speech and language patterns) are most represented in all intervention programmes. CONCLUSIONS: Three out of four intervention programmes focus on Stage 3 (actual speech and language stimulation). Stage 1 is underrepresented and the psychosocial needs of parents are currently not included in existing intervention programmes. Further research is needed in close collaboration with psychologists to construct a comprehensive, longitudinal, developmentally appropriate intervention programme that equally represents the three stages of communicative development and considers the psychosocial needs of parents. WHAT THIS PAPER ADDS: What is already known on the subject Children with cleft lip and/or palate are at increased risk of speech and language problems from birth. Parents of these children often have emotional problems following their child's diagnosis. The effectiveness of early intervention to facilitate the child's speech and language development has already been proven. Early intervention is recommended for both parents and child, but little is known about early parent-implemented logopaedic interventions that also provide psychosocial support for parents. What this paper adds to existing knowledge This review has shown that existing early parent-implemented logopaedic interventions for children with cleft lip and/or palate focus mainly on facilitating responsive interactions and actual speech and language development (Stages 2 and 3 of communicative development). However, Stage 1, where the parent-child relationship develops, is currently not included, even though this stage is a prerequisite of subsequent stages. If parents are struggling with emotional problems (following their child's diagnosis) this can negatively impact their mental health, the parent-child relationship, attachment and their child's development. What are the potential or actual clinical implications of this work? A clinical implication of the findings in this review is that more attention should be paid to Stage 1 of communicative development in early parent-implemented logopaedic interventions. By working closely with the psychologist of the cleft (and craniofacial) team, any psychosocial needs of the parents can be included in the counselling. As a result, the parents and their child are seen and supported as a unit and the parent-child relationship can develop optimally.

Comparison of Facial Aesthetic Evaluation Given by Patients with Cleft Lip and/or Palate and Professionals: A Systematic Review.

OBJECTIVE: To compare the differences of facial aesthetic evaluation between patients with Cleft Lip and/or Palate (CL/P) and professionals for the treatment outcome of CL/P. DESIGN: This systematic review was conducted on MedLine, Web of Science, Embase and Cochrane Library databases. The Risk of Bias in Non-randomized Studies of Intervention (ROBINS-I) tool was used to evaluate the included researches. SETTING: Not applicable. PATIENTS, PARTICIPANTS: Patients with CL/P and professionals. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: The facial aesthetic evaluation of patients with CL/P and professionals. RESULTS: Among the 1695 literatures retrieved, 22 articles were included, including 974 patients with CL/P and 251 professionals. The bias risk assessment on 21 articles was rated "Moderate" and only one article was rated "Serious". Due to the high heterogeneity of the included studies, meta-analysis was not possible, so descriptive analysis was conducted. Among the included studies, two articles indicated similar views from both groups, 19 noted differences between the two groups, of which three articles indicated more positive evaluation by professionals and nine articles indicated more positive evaluation by patients. CONCLUSIONS: The available data indicate that there is a difference between patients with CL/P and professionals in the aesthetic evaluation, but it is not clear which group is more positive. During the treatment of patients with CL/P, apart from the objective aesthetic evaluation, professionals should fully consider subjective ideas and self-assessment of patients, in order to improve the quality of life for patients.

Mandibular condyle volumes are associated with facial asymmetry in patients with cleft lip and palate: A retrospective cohort study.

This study compares condylar volumetric asymmetry and facial asymmetry in patients with cleft lip and/or palate (CLP) and controls. The mandibular condyle is important to facial growth, but its role in facial asymmetry for those with CLP has not been described. Condylar volumes and mandibular asymmetry were retrospectively calculated using Mimics Version 23.0 (Materialise, Leuven, Belgium) from patients with CLP undergoing computed tomography (CT) imaging and a cohort of controls. A total of 101 participants, 60 with CLP and 41 controls, had mean condylar volumetric asymmetry of 16.4 ± 17.4 % (CLP) and 6.0 ± 4.0 % (controls) (p = 0.0002). Patients with CLP who had clinically significant chin deviation (>4 mm) had more asymmetric condyles than those without significant chin deviation (p = 0.003). The chin deviated toward the smaller condyle in patients with facial asymmetry more often than in patients without facial asymmetry (81 % vs. 62 %, p = 0.033). While controls had some degree of condylar asymmetry, it tended to be milder and not associated with facial asymmetry. There is a greater degree of condylar volumetric asymmetry in patients with CLP compared to individuals in the general population. Clinically significant facial asymmetry in CLP is associated with a higher degree of condylar asymmetry, with the facial midline deviating toward the smaller condyle.

What Parents of Children Born with a Cleft Lip and/or Palate Want to Know About the Care for their Child.

OBJECTIVE: Adequate health information that matches the needs of care recipients is a prerequisite for patient-centered care. To facilitate the provision of tailored and timely information, it isimportant to understand the information needs of parents of children and adolescents with cleft lip and/or palate (CL/P) themselves, and in addition they were asked how they experienced the provided care-related information. DESIGN: A cross-sectional study employing questionnaires and semi-structured interviews. SETTING: Participants were recruited from a cleft palate-craniofacial care unit in a major tertiary hospital in the Netherlands. PARTICIPANTS: Participants were parents or guardians of children with CL/P, and two adolescents with CLP. They were recruited through the outpatient clinic during multidisciplinary consultation or after clinical admission. RESULTS: In total, fifty-five questionnaires were completed by parents or guardians and eleven interviews were conducted with nine parents of children with CL/P and two adolescents with CL/P. In general, participants reported to be satisfied with provided information during hospital admission or multidisciplinary cleft team consultations (mean 8.0, scale 0-10). In addition, 25.5% (n = 14) indicated that information to prepare for hospital admission was lacking (eg, practical information). Thematic qualitative analysis yielded five main information needs: 1) Clear communication during the care process, 2) Overview of the care trajectory, 3) Specific care plan information, 4) Presentation of information and 5) Guidance and support. CONCLUSIONS: Our findings emphasize the importance of gaining insights into wishes and information needs from care recipients who can provide insights in their information needs. With these findings, information provision should be redesigned to improve and to foster the further transition to family-centered care.

Factors Influencing Parental Satisfaction in Children with Cleft Lip and Palate Repair Based on Comprehensive Plastic Surgery Procedures at the Senyum Bali Foundation.

Analyze contributing factors toward satisfaction after cleft lip and palate treatments in Senyum Bali Foundation. Qualitative case study, an interview with a semi-structured question from February to April 2023 by purposive sampling informants including parents, foundation staff, and plastic surgeon. Unsatisfying nose and teeth appearance due imperfect effects after surgery and requirement of more procedures. Mini model theory study that includes the appearance of the face and lips; speech and hearing; the functions of feeding, masticatory, breathing; psychosocial, quality of life, treatment cost-effectiveness, funding, health services, physician, implementing cultural contexts, surgical outcomes, and parents' feedback.

Prevention of cleft lip and/or palate in A/J mice by licorice solution.

Cleft lip and/or palate anomalies (CL ± P) are the most frequent birth defects affecting the orofacial region in humans. Although their etiology remains unclear, the involvement of environmental and genetic risk factors is known. This observational study aimed to investigate how the use of  crude drugs with estrogen activity influenced an animal model's ability to prevent CL ± P. A/J mice were randomly divided into six experimental groups. Five of these groups consumed a drink containing crude drug licorice root extract, with the following weights attributed to each group: 3 g in group I, 6 g in group II, 7.5 g in group III, 9 g in group IV, and 12 g in group V, whereas a control group consumed tap water. The effect of licorice extract was examined for fetal mortality and fetal orofacial cleft development compared to the control group. The rates for fetal mortality were 11.28%, 7.41%, 9.18%, 4.94%, and 7.90% in groups I, II, III, IV, and V, respectively, compared to 13.51% in the control group. There were no significant differences in the mean weight of alive fetuses in all five groups compared to the control group (0.63 ± 0.12). Group IV showed the lowest orafacial cleft occurrence of 3.20% (8 fetuses) with statistical significance (p = 0.0048) out of 268 live fetuses, whereas the control group had the occurrence of 8.75% (42 fetuses) among 480 live fetuses. Our study showed that the dried licorice root extract may reduce orofacial birth defects in experimental animal studies.

The impact of developmental genes in non-syndromic cleft lip and/or palate

Non-syndromic cleft lip and/or palate (NSCL/P) is a congenital malformation with a prevalence of 1:700 births. It has a multifactorial etiology. Human craniofacial development takes place during the first 10 weeks of pregnancy. Normal craniofacial development arises from the convergence and fusion of the facial and palatal processes and involves interactions between genes that regulate cell growth, proliferation, differentiation, epithelial-to-mesenchymal transition, and apoptosis. Whole genome/exome analysis, and also genome-wide association studies give us to chance to identify the genetic factors which contribute to the development of NSCL/P. After detecting a cleft lip and/or palate on ultrasonography without associated anomalies, the patient should be evaluated in collaboration with a clinical geneticist, taking into account the many genes and environmental factors involved in NSCL/P etiopathogenesis, and a roadmap for possible genetic diagnosis should be drawn.

Relevance of Fetal Brain Magnetic Resonance Imaging Compared to Ultrasound for Detecting Cerebral Anomalies in Fetuses with Cleft Lip and/or Palate: A Cohort Study.

INTRODUCTION: Relevance of fetal brain magnetic resonance imaging (MRI) in cases of cleft lip and/or palate (CL/P) is still discussed to date. The aim of our study was to review the contribution of fetal brain MRI for detecting cerebral anomalies in cases of CL/P comparing antenatal data with neonatal outcomes. METHODS: A retrospective multicenter study was conducted from January 2010 to October 2020 in two multidisciplinary prenatal diagnosis centers among women with a fetal ultrasound (US) diagnosis of CL/P. Prenatal imaging and genetic analysis data were collected, as well as postnatal data, including outcomes of children who had an abnormal prenatal MRI. RESULTS: Among the 202 fetuses with a US diagnosis of CL/P, 96 underwent US and fetal brain MRI. 19 brain MRIs were found to be abnormal: 14 (73.7%) involved CL/P associated with other US abnormalities and five (26.3%) involved isolated clefts, of which four were cleft lip and alveolus and secondary palate (CLP). MRI identified severe abnormalities that changed the prognoses of 3 cases of clefts associated with other US abnormalities. In contrast, MRI found only minor abnormalities for the five isolated clefts, with no postnatal disorders found in these children. CONCLUSION: Fetal brain MRI should be proposed in cases of clefts associated with other anomalies or if US examination is limited by local conditions. MRI could also be discussed in cases of isolated CLP but should not be performed in cases of isolated cleft lip.

An investigation into nutritional methods at the fifth day after birth of infants in association with cleft type and laterality.

In patients with clefts, the affection of other congenital malformations on the feeding is unclear. We investigated the other congenital malformations and nutritional intake of neonates with cleft lip and/or palate and examined their relationships associated with cleft type and laterality. The participants included 126 infants under treatment with a presurgical naso-alveolar molding (PNAM) or a Hotz-type plate. The survey items were gender, cleft type and side, presence and nature of other congenital malformations, birth weight and nutritional method at age of the fifth day. The number of infants was 36 (28.6%) of cleft lip and alveolus, 82 (65.1%) of cleft lip and palate, and 8 (6.3%) of cleft palate only. Forty-three patients (34.1%) had other various congenital malformations. The nutritional method included oral intake in 78.6% (n = 99) of cases and tube feeding with/without oral intake in 21.4% (n = 27) of cases. The rate of tube feeding was higher for right-sided clefts than that for left-sided clefts. This observation was consistent with the fact that right-sided clefts were associated with more significant other congenital malformations than those on the left-side. The nutritional method for infants with cleft lip and/or palate was related to the presence of other congenital malformations, not to cleft laterality or oral cleft itself under early treatment with PNAM plate. These results proposed that screening the general condition is essential for neonates with right-sided cleft lip with/without cleft palate compared to left-sided clefts, which should be conducted immediately after birth for planning the appropriate nutritional method.

The Impact of the Covid-19 Pandemic on Cleft Lip and Palate Service Delivery for New Families in the United Kingdom: Medical and Community Service Provider Perspectives.

OBJECTIVES: Professionals in the United Kingdom providing care to new families affected by cleft lip and/or palate (CL/P) had to adapt to ensure families' needs were met during a time of uncertainty due to Covid-19. The aims of this study were to explore the impacts of the pandemic on CL/P care provision for new families from the perspectives of professionals working in medical and community settings along with any personal impact on professionals and their reflections on the future of CL/P care. DESIGN: Semistructured interviews (n = 27) were completed about experiences from March 2020 to October 2020 with consultant cleft surgeons (n = 15), lead clinical nurse specialists (n = 8), and staff working at the Cleft Lip and Palate Association (n = 4). Transcripts were analyzed using inductive thematic analysis. RESULTS: Three themes were identified: (1) the impact of Covid-19 on the provision of cleft care in the United Kingdom, including working conditions, delays to treatment, and Covid-19 policies; (2) the impact of the pandemic on professionals' mental health, including personal distress and concerns about Covid-19 exposure; and (3) reflections on the future of CL/P care, whereby professionals expressed both hope and concern about the Covid-19 recovery effort. CONCLUSIONS: The ongoing Covid-19 pandemic has impacted CL/P service delivery for new families significantly, warranting recommendations for cohesive psychological support for families in addition to a safe and resourced recovery effort. Support for professionals is also suggested, following existing evidence-based models for providers' needs that address the difficulties of working throughout challenging times.

Research progress on the role of environmentally induced DNA methylation in congenital cleft lip and/or palate / 口腔疾病防治

@#Congenital cleft lip and/or palate (CL/P) is a common malformation of maxillofacial development. At present, it is believed that the etiology of congenital cleft lip and palate mainly results from genetic factors and environmental factors. Epigenetic changes induced by environmental factors may be the key factor in the occurrence of fetal congenital malformations. As one of the important epigenetic modifications, DNA methylation has been widely and deeply studied in many fields, but as a link between the individual and the environment, its application in CL/P is limited. Existing studies have shown that DNA methylation is closely related to the occurrence of cleft lip and palate. Stimulation of folate deficiency, smoking, pollutant exposure and other environmental factors can induce changes in the state of DNA methylation, thus affecting gene expression in the development of lip and palate and leading to the occurrence of deformities.

Dental Caries Experience among Children and Adolescents with Cleft Lip and/or Palate: An Umbrella Review.

Aim and objective: To assess the systematic reviews and meta-analyses investigating the dental caries experience in children with cleft lip and/or palate (CL/P). Study design and methodology: A systematic search was carried out from MEDLINE Via PubMed, JBI Database of Systematic Reviews and Implementation Reports, EMBASE, OVID, Cochrane Database of Systematic Review, and Epistemonikos databases. Two independent reviewers carried out the collection and analysis of the study data. Methodological quality was assessed by ROBIS (Risk of bias assessment in systematic review) tool. Review results: An initial search of electronic databases yielded a total of 25 relevant reviews, of which only three systematic reviews were taken into consideration for qualitative synthesis. The total number of unique primary studies among the three included systematic reviews were 25, of which overlap of the studies was calculated using citation matrix. The corrected covered area (CCA) was estimated to be 0.26. Based on the ROBIS tool, only one systematic review reported with low risk of bias. Conclusion: Individuals with CL/P report more decayed, missing, or filled teeth/surfaces than those without CL/P in primary, mixed, and permanent dentition. Future studies should focus on the factors which could modify the caries risk of an individual with CL/P. Clinical significance: This umbrella review offers a more reliable and balanced view regarding the dental caries experience among individuals with cleft lip and/or palate. This paper also highlights the important role of pediatric dentist in multidisciplinary health care team in implementing first dental visit and anticipatory guidance to consider early diagnosis and specific preventive interventions for Early Childhood Caries (ECC) in individuals with CL/P. How to cite this article: Abirami S, Panchanadikar NT, Muthu MS, et al. Dental Caries Experience among Children and Adolescents with Cleft Lip and/or Palate: An Umbrella Review. Int J Clin Pediatr Dent 2022;15(S-2):S261-S268.

Anxiety in Chinese Patients With Cleft Lip and/or Palate: A Preliminary Study.

OBJECTIVES: To preliminarily analyze factors that affected the prevalence of anxiety in Chinese patients with cleft lip and/or palate (CL/P). METHODS: The Generalized Anxiety Disorder Scale (GAD-7) was used to screen anxiety in Chinese CL/P patients. Non-CL/P individuals were also included as the control group. Sociodemographic and clinical data consisting of diagnosis, gender, only child or not, monthly household income, and current family location were collected to analyze possible factors that could affect the anxiety of this patient population. RESULTS: One hundred forty-two and 78 valid questionnaires were collected from the study and control groups, respectively. The mean GAD-7 score of the study group (3.092 ± 3.381) was significantly lower than the control (3.987 ± 2.505). Moreover, the proportion of patients presenting with moderate-severe anxiety was larger in the study group than in the control group (6.6 vs. 0.0%). Statistically significant differences in GAD-7 scores were observed between the study and control groups when the patient was the only child, living in an urban area, or the monthly household income was between 1,000 and 5,000 yuan. CONCLUSION: Although the severity of anxiety in Chinese CL/P patients was not severer than those without CL/P, there was a relatively high incidence of moderate-severe anxiety in CL/P patients, while the only child, current family location and the monthly household income played significant roles in affecting anxiety psychology.

Clefts and Dental General Anesthesia: The South Thames Experience.

BACKGROUND: Children with clefts have high dental needs and often require a dental general anesthesia (DGA) for the management of their dentition. OBJECTIVE: To assess the number of children with clefts requiring a pediatric dental consultant led DGA in the South Thames Cleft Service over a 3-year period. DESIGN: Data were collected retrospectively over a 36-month period. RESULTS: Sixty-five children with cleft lip and/or palate required a DGA with the South Thames Cleft Service. The average age of the child was 7 years, and the average number of teeth treated under the general anesthetic was 9. Families traveled an average of 21 miles to access their child's care, and the referral-to-treat time was on average 14 weeks. CONCLUSION: Results highlight the need for DGA provision for children with clefts. Cleft centers need sufficient capacity for this service to prevent long wait times, and in view of distances traveled shared, care should be implemented with local providers.

Skeletal Maturation in Patients With Cleft Lip and/or Palate: A Systematic Review.

OBJECTIVE: The objective of this systematic review was to evaluate the evidence regarding skeletal maturation in patients with cleft lip and/or palate (CL/P) and to investigate whether the skeletal maturation is delayed in these patients. DESIGN: Systematic review. METHODS: Electronic and manual searches of scientific literature were conducted in 4 databases (MEDLINE, Embase, Cochrane Library, and Web of Science). Cohort studies that compared the skeletal maturation of patients with CL/P with that of children without CL/P were eligible for inclusion. The quality of included cohort studies was assessed using the Newcastle-Ottawa Scale. PATIENTS AND PARTICIPANTS: Patients of any sex and ethnicity with CL/P and children without CL/P were included in this systematic review. MAIN OUTCOME MEASURES: Difference in skeletal maturation between patients with CL/P and patients without CL/P. RESULTS: Thirteen retrospective cohort studies were included in this systematic review. Ten studies were considered of high quality and 3 were considered of general quality. The results of the included studies comparing skeletal maturation of patients with CL/P and children without CL/P were heterogeneous. CONCLUSION: Heterogeneity of skeletal maturation assessment methods, chronological age, sex, cleft type, and race may influence the final results of clinical studies on skeletal maturation in patients with CL/P. Overall, there is limited evidence to determine whether the skeletal maturation level of patients with CL/P is delayed compared to that of normal children. Further studies are needed to determine the skeletal maturation patterns in patients with CL/P.

The Online Attention to Cleft Lip and Palate Research: An Altmetric Analysis.

OBJECTIVES: To identify research articles related to cleft lip and/or cleft palate (CL/P) that generated the highest online attention. METHODS: Altmetric Explorer was used to identify the 100 articles with the highest Altmetric Attention Score (AAS). Descriptive and correlation statistics were performed to study the characteristics of these articles in relation to their publication data, research type and domain, number of Mendeley readers, and dimensions citations. Citation counts were extracted from Scopus and Google Scholar. RESULTS: The median AAS for the top 100 outputs was 22 (range from 12 to 458). The outputs were mostly discussed on Twitter (median = 8; range = 0-131). Topics discussing treatment and care for patients with CL/P accounted for 38% of the articles with the highest AAS followed by etiology and risk factors (32%). The majority of articles originated from the USA (46%) followed by Europe (16%) and the United Kingdom (15%). No significant differences were observed in AAS among different study designs, topic domains, journals' ranking and impact factor, and the number of citations in Scopus and Google Scholar. CONCLUSIONS: Researchers should consider use of social platforms to disseminate their work among scholars and nonscholars. Altmetrics can be combined with traditional metrics for a more comprehensive assessment of research impact.

Cleft Lip and/or Palate and Associated Risks in Lower-Middle-Income Countries: A Systematic Review.

OBJECTIVE: To identify and review published data on the risks associated with cleft lip and/or palate (CL/P) in lower-middle-income countries (LMICs). DESIGN: A systematic review of literature was performed on electronic databases using the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Protocols. Literature on risks associated with CL/P in LMICs, from 2010 to 2020, were included. RESULTS: Seventeen studies met the inclusion criteria. All studies adopted an observational study design. Biological and environmental risks were identified. Maternal and paternal age (n = 7) and low socioeconomic status (n = 5) were the most prominently associated environmental risk factors. A strong association was identified between family history of cleft (n = 7) and CL/P occurrence. CONCLUSION: Environmental risk factors are now being investigated more than biological risk factors in LMICs, aiding health care workers in the early identification of possible cumulative effects of risks in CL/P. Contextually relevant tools are recommended to promote early identification of at-risk infants.

Validity and reliability of the Family Empowerment Scale for parents of children with cleft lip and/or palate.

BACKGROUND: Empowerment is recognized as a crucial concept in strengthening the position of parents in healthcare services. This study aimed to evaluate the validity and reliability of the Turkish Family Empowerment Scale (FES). METHODS: This methodological study was conducted between January and March 2021, with 348 family members actively caring for their children in the age group of 0-18 years with cleft lip and/or palate (CL/P). The English FES was translated into Turkish using back translation and modified so that it is generic and convenient for all families. The construct validity, internal validity, internal consistency, and split-half test reliability and responsiveness of the Turkish FES were examined. RESULTS: The original FES structure with three factors (family, health services provided to the child and community participation) and 34 items was verified in Turkish culture. This obtained structure can explain 66% of the variance of the relevant concept. Scores of parents ranged between 34 and 170 points. Increasing scores indicated a positive significance regarding family empowerment. The Cronbach's α reliability coefficient of the scale was calculated as 0.976. CONCLUSION: The study findings and the goodness-of-fit values indicated that the FES and its Turkish version are a valid and reliable measurement instrument to be used in Turkish culture.

Identification of Novel Genomic Variations in Susceptibility to Nonsyndromic Cleft Lip and Palate Patients.

BACKGROUND: Nonsyndromic cleft lip with or without palate (NSCL/P) is a multifactorial and common birth malformation caused by genetic and environmental factors, as well as by teratogens. Genome-wide association studies found genetic variations with modulatory effects of NSCL/P formation in Chinese and Iranian populations. We aimed to identify the susceptibility of single-nucleotide polymorphisms (SNPs) to nonsyndromic cleft lip with or without palate in the Indian population. MATERIAL AND METHODS: The present study was conducted on NSCL/P cases and controls. Genomic DNA was extracted from peripheral blood and Axiom- Precision Medicine Research Array (PMRA) was performed. The Axiom-PMRA covers 902,527 markers and several thousand novel risk variants. Quality control-passed samples were included for candidate genetic variation identification, gene functional enrichment, and pathway and network analysis. RESULTS: The genome-wide association study identified fourteen novel candidate gene SNPs that showed the most significant association with the risk of NSCL/P, and eight were predicted to have regulatory sequences. CONCLUSION: The GWAS study showed novel candidate genetic variations in NSCL/P formations. These findings contribute to the understanding of genetic predisposition to nonsyndromic cleft lip with or without palate.