Case report on bilateral cleft palate with protuded premaxilla

Cleft palate (ICD 10-Q 35.9) with Protruding of premaxilla is common feature in patient with bilateral cleft lip and palate it is due to the under trained growth at anterior nasal septal and vomero-premaxillary suture without lateral continuities. Hippocrates (400BC) AND Galen(150AD) mansion cleft lip, but not cleft palate in their writing, Cleft palate –Fanco.(1556), Repair of cleft lip –as early as 255-206 BC in CHINA. The first successful closure of a soft palate defect was reported in 1764 by LEMONNIERa French dentist.

Resilience and Related Factors: A Comparison of Fathers and Mothers of Patients With Cleft Lip and/or Palate in China

Background: Resilience has become a hot spot in the field of positive psychology to study life-change events. However, there were little information on resilience among the fathers and mothers of patients with cleft lip and/or palate respectively. The present study aimed to explore and compare the level and potential influential factors associated with resilience among fathers/mothers of patients with cleft lip and/or palate in China.Method: A cross-sectional study was carried out between April 2019 and July 2020 among fathers/mothers of patients with cleft lip and/or palate in two cleft lip and/or palate treatment centers in China. Sixty Nine fathers and 179 mothers of patients with cleft lip and/or palate were interviewed with a questionnaire on demographic variables and the Resilience Scale-14 (RS-14), Herth Hope Index (HHI), Multidimensional Scale of Perceived Social Support (MSPSS), Revised Life Orientation Test (LOT-R), Parenting Stress Index-Short Form (PSI-SF) and Coping Health Inventory for Parents (CHIP). T-test/univariate one-way ANOVA, Pearson's r, hierarchical linear regression analysis were conducted to explore the influential factors of resilience.Results: Fathers of patients with cleft lip and/or palate had a higher level of resilience (77.77 ± 14.18) than mothers (74.52 ± 14.33) though without significance. Resilience was positively associated with hope, perceived social support, optimism and coping and negatively correlated with parenting stress both in the fathers and the mothers. Hierarchical linear regression analysis showed that hope (β = 0.400, P < 0.01), coping (β = 0.281, P < 0.05), job status, medical payments (β = −0.240, P < 0.05) were found to be associated with resilience among the fathers of patients with CL/P, and all four variables in the model could explain 42.8% of the variance in resilience; Hope (β = 0.225, P < 0.05), perceived social support (β = 0.194, P < 0.05), the age of patients (β = 0.189, P < 0.05) were found to be associated with resilience among the mothers, and all three variables in the model could explain 27.6% of the variance in resilience.Conclusion: Our study showed that, in China, fathers of patients with cleft lip and/or palate had a higher level of resilience than mothers though without significance. Hope was the only communal variable strongly associated with resilience among both the fathers and the mothers; besides, coping, job status and medical payments were found to be associated with resilience among the fathers; while perceived social support and the age of patients were found to be associated with resilience among the mothers. The results suggest that enhance hope in parents of patients with cleft lip and/or palate might greatly help improve their resilience. Besides, fathers and mothers need specific intervention to prompt their resilience.

One Size Doesn't Fit All: A Pilot Study Toward Performance-Specific Speech Intervention in Children With a Cleft (Lip and) Palate

Purpose: Speech-language pathologists usually apply a “one size fits all” approach to eliminate compensatory cleft speech characteristics (CSCs). It is necessary to investigate what intervention works best for a particular patient. This pilot study compared the effectiveness of two therapy approaches (a motor-phonetic approach and a linguistic-phonological approach) on different subtypes of compensatory CSCs in Dutch-speaking children with a cleft (lip and) palate (CP ± L). Method: Fourteen children with a CP ± L ( M age = 7.71 years) were divided into two groups using block randomization stratified by age, gender, and type of compensatory CSC. Six children received intervention to eliminate anterior oral CSCs ( n = 3 motor-phonetic intervention, n = 3 linguistic-phonological intervention). Eight children received intervention to eliminate non-oral CSCs ( n = 4 motor-phonetic intervention, n = 4 linguistic-phonological intervention). Each child received 10 hr of speech intervention divided over 2 weeks. Perceptual and psychosocial outcome measures were used to determine intervention effects. Results: Children who received linguistic-phonological intervention to eliminate anterior oral CSCs had significantly higher correctly produced consonant scores and health-related quality of life (HRQoL) scores compared to children who received motor-phonetic intervention to eliminate anterior oral CSCs. In the group of children who received intervention to eliminate non-oral CSCs, no significant differences were found in the correctly produced consonant scores nor in the HRQoL scores between the two intervention approaches. Conclusions: Linguistic-phonological intervention seems to be more appropriate to eliminate anterior oral CSCs. The beneficial effects of linguistic-phonological intervention were less pronounced in children with non-oral CSCs. Perhaps, children with non-oral CSCs benefit more from a hybrid phonetic-phonological approach. This study is a step forward in the provision of performance-specific intervention in children with a CP ± L. Replication in larger samples is needed and will aid to tailor treatment plans to the needs of our patients.

Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?

5q14.3 deletion syndrome (MIM#613443) is an uncommon but well-known syndrome characterized by intellectual disability, epilepsy, hypotonia, brain malformations, and facial dysmorphism. Most patients with this syndrome have lost one copy of the <i>MEF2C</i> gene (MIM*600662), whose haploinsufficiency is considered to be responsible for the distinctive phenotype. To date, nearly 40 cases have been reported; the deletion size and clinical spectrum are variable, and at least 6 cases without <i>MEF2C</i> involvement have been documented. We herein report the clinical and cytogenomic findings of an 11-year-old girl who has a 5q14.3q21.1 de novo deletion that does not involve <i>MEF2C</i> but shares the clinical features described in other reported patients. Moreover, she additionally presents with bilateral cleft-lip palate (CLP), which has not been previously reported as a feature of the syndrome. The most frequent syndromic forms of CLP were ruled out in our patient mainly by clinical examination, and Sanger sequencing was performed to discard the presence of a <i>TBX22</i> gene (MIM*300307) defect. Our report suggests CLP as a possible unreported feature and redefines the critical phenotypic regions of 5q14.3 deletion syndrome.

Maternal cigarette smoking before or during pregnancy increases the risk of birth congenital anomalies: a population-based retrospective cohort study of 12 million mother-infant pairs

Background The associations of maternal cigarette smoking with congenital anomalies in offspring have been inconsistent. This study aimed to clarify the associations of the timing and intensity of maternal cigarette smoking with 12 subtypes of birth congenital anomalies based on a nationwide large birth cohort in the USA. Methods We used nationwide birth certificate data from the US National Vital Statistics System during 2016–2019. Women reported the average daily number of cigarettes they consumed 3 months before pregnancy and in each subsequent trimester during pregnancy. Twelve subtypes of congenital anomalies were identified in medical records. Poisson regression analysis was used to estimate the risk ratios (RRs) with 95% confidence intervals (CIs) for 12 subtypes of congenital anomalies associated with the timing (i.e., before pregnancy, and during three different trimesters of pregnancy) and intensity (i.e., number of cigarettes consumed per day) of maternal cigarette smoking. Results Among the 12,144,972 women included, 9.3% smoked before pregnancy and 7.0%, 6.0%, and 5.7% in the first, second, and third trimester, respectively. Maternal smoking before or during pregnancy significantly increased the risk of six subtypes of birth congenital anomalies (i.e., congenital diaphragmatic hernia, gastroschisis, limb reduction defect, cleft lip with or without cleft palate, cleft palate alone, and hypospadias), even as low as 1–5 cigarettes per day. The adjusted RRs (95% CIs) for overall birth congenital anomalies (defined as having any one of the congenital malformations above significantly associated with maternal cigarette smoking) among women who smoked 1–5, 6–10, and ≥ 11 cigarettes per day before pregnancy were 1.31 (1.22–1.41), 1.25 (1.17–1.33), and 1.35 (1.28–1.43), respectively. Corresponding values were 1.23 (1.14–1.33), 1.33 (1.24–1.42), 1.33 (1.23–1.43), respectively, for women who smoked cigarettes in the first trimester; 1.32 (1.21–1.44), 1.36 (1.26–1.47), and 1.38 (1.23–1.54), respectively, for women who smoked cigarettes in the second trimester; and 1.33 (1.22–1.44), 1.35 (1.24–1.47), and 1.35 (1.19–1.52), respectively, for women who smoked cigarettes in the third trimester. Compared with women who kept smoking before and throughout pregnancy, women who never smoked had significantly lower risk of congenital anomalies (RR 0.77, 95% CI 0.73–0.81), but women who smoked before pregnancy and quitted during each trimester of pregnancy had no reduced risk (all P > 0.05). Conclusions Maternal smoking before or during pregnancy increased the risk of several birth congenital anomalies, even as low as 1–5 cigarettes per day. Maternal smokers who stopped smoking in the subsequent trimesters of pregnancy were still at an increased risk of birth congenital anomalies. Our findings highlighted that smoking cessation interventions should be implemented before pregnancy.

Maternal Stressful Life Events During the Periconceptional Period and Orofacial Clefts: A Systematic Review and Meta-Analysis

Objective To assess whether women who experience stressful life events during the periconceptional period are at higher risk of giving birth to a baby with an orofacial cleft (OFC). Design Systematic review and meta-analysis of studies reporting the proportion of babies born with OFC to mothers exposed and unexposed to population-level or personal-level stressful life events during the periconceptional period. Six electronic databases were searched from inception to August 2020. Risk of bias was assessed using the Newcastle-Ottawa scale. Odds ratios (ORs) for the odds of OFC in babies of exposed mothers relative to unexposed controls were extracted and/or calculated. Random effects meta-analysis was undertaken, stratified by cleft subtype. Results Of 12 eligible studies, 8 examined experience of personal events and 4 examined population-level events. Studies demonstrated low-moderate risk of bias and there was indication of publication bias. There was some evidence that personal stressful life events were associated with greater odds of cleft lip and/or palate (six studies, OR 1.63, 95% confidence interval (CI) 1.16, 2.30, P = 0.001) and cleft palate only (six studies, OR 1.45, 95% CI 1.02, 2.06, P = 0.04). Population-level events were associated with higher odds of OFC in studies that did not specify subtype (three studies, OR 1.64, 95% CI 1.19, 2.25, P = 0.002), but subtype stratified analyses were underpowered. Heterogeneity was high. Conclusions Limited evidence indicated a weak positive association between maternal stressful life events during the periconceptional period and risk of OFC in the offspring, but further studies with greater consistency in research design are needed.

Secondary alveolar bone graft in incomplete unilateral pre-foramen fissure: case report

Cleft lip and palate is one of the most common facial deformities. During embryonic life, non-fusion of the maxillary and medial nasal plaques leads to cleft lip and palate. Fissures can produce a range of dental problems in terms of number, size, shape, and position, related to deciduous or permanent dentition. Besides this, the teeth most affected are those located in the fissure area. There are numerous treatment protocols, which, despite the lack of a consensus, start as soon as the child is born, going into adulthood, seeking functional and aesthetic rehabilitation. The surgical phases, lip repair, nasal repair, palatoplasty and alveolar bone grafting, are performed according to age. As for the bone graft, the most used option is the secondary graft, with the autogenous one being the most available. Thus, the objective of this work is to present a clinical case of secondary alveolar bone grafting in a 10-year-old female patient with an incomplete unilateral pre-foramen cleft.

On the Benefits of Speech-Language Therapy for Individuals Born With Cleft Palate: A Systematic Review and Meta-Analysis of Individual Participant Data

Purpose: Cleft lip and/or palate (CLP) is a common birth defect, and after reconstructive surgery, about 50% of children at 5 years of age have speech deviations and are referred to speech-language therapy (SLT). The peer-reviewed evidence for the benefit of SLT has been uncertain. Our objective was to systematically review and meta-analytically summarize the benefit of SLT for individuals born with CLP. Method: A systematic search was conducted (last search on February 19, 2021) on studies evaluating SLT with pre and post measures on speech production, language ability, intelligibility, and/or patient-reported outcomes. We sought individual participant data (IPD) and evaluated on an individual level if the outcome measure had improved to a clinically relevant degree during SLT and if the outcome measure was on a level with peers or not after SLT. Meta-analyses and meta-regressions were applied to synthesize IPD across studies. Results: Thirty-four eligible studies were found. Nineteen studies provided IPD ( n = 343) for the main analysis on speech production. The synthesized information suggests that, during SLT, speech production improved to a clinically relevant degree for many individuals (95% CI [61%, 87%]) and that speech production was on a level with peers for some individuals after SLT (95% CI [10%, 34%]). Conclusions: The main strength of this meta-analysis is that we evaluated on an individual level pre- and post-intervention data based on considerations of clinical relevance. This approach allowed us to conclude that many individuals benefit from SLT and that further work on evaluating SLT in this patient group is meaningful. Supplemental Material https://doi.org/10.23641/asha.17700992