Differences in velopharyngeal pressures during speech sound production in patients with unilateral cleft lip and palate (UCLP) and healthy individuals.

Background: During articulation the velopharynx needs to be opened and closed rapidly and a tight closure is needed. Based on the hypothesis that patients with cleft lip and palate (CLP) produce lower pressures in the velopharynx than healthy individuals, this study compared pressure profiles of the velopharyngeal closure during articulation of different sounds between healthy participants and patients with surgically closed unilateral CLP (UCLP) using high resolution manometry (HRM). Materials and methods: Ten healthy adult volunteers (group 1: 20-25.5 years) and ten patients with a non-syndromic surgically reconstructed UCLP (group 2: 19.1-26.9 years) were included in this study. Pressure profiles during the articulation of four sounds (/i:/, /s/, /ʃ/ and /n/) were measured by HRM. Maximum, minimum and average pressures, time intervals as well as detection of a previously described 3-phase-model were compared. Results: Both groups presented with similar pressure curves for each phoneme with regards to the phases described and pressure peaks, but differed in total pressures. An exception was noted for the sound /i:/, where a 3-phase-model could not be seen for most patients with UCLP. Differences in velopharynx pressures of 50% and more were found between the two groups. Maximum and average pressures in the production of the alveolar fricative reached statistical significance. Conclusions: It can be concluded that velopharyngeal pressures of patients with UCLP are not sufficient to eliminate nasal resonance or turbulence during articulation, especially for more complex sounds. These results support a general understanding of hypernasality during speech implying a (relative) velopharyngeal insufficiency.

Children's Visual Perception of Facial Scarring and Cleft Lip Deformity Using Eye Tracking Data.

OBJECTIVE: The purpose of this study is to determine children's perception of secondary cleft lip deformity (SCLD) using objective eye tracking technology and subjective responses on a survey to understand pediatric perceptions of facial scarring. DESIGN: Cross-sectional study of participants aged 5-17 years old. METHODS: Participants viewed images of children's faces with an eye tracking device. Sixteen images were displayed, 12 with unilateral SCLD and four with no facial scarring. Eye tracking data were obtained. Gaze samples were analyzed for areas of interest (AOIs). Immediately after viewing each image, participants answered two survey questions relating to facial asymmetry attitude toward the child pictured. For analysis, participants were divided into age groups. RESULTS: A total of 259 participants were enrolled (42.5% female). Mean age was 10.5 years and 78% identified as White. In all age groups, total fixation time was greater for SCLD compared to control images. Early elementary age children spent significantly less time assessing the nose AOI compared to other groups, and also spent the least total fixation time and had the lowest visit count on all AOIs. Subjective survey questions showed similar trends with elementary age not noticing facial asymmetry compared to older age groups. CONCLUSION: This study demonstrates the successful use of eye tracking technology in children as young as 5 years old. This study suggests that SCLD is perceived as less noticeable in elementary age children and becomes more noticeable to older groups. Understanding peer perception on SCLD from this study may impact decision on revision surgery for SCLD. LEVEL OF EVIDENCE: IV Laryngoscope, 134:2726-2733, 2024.

Agenesia e fatores associados em pacientes portadores de fissura labiopalatina: uma revisão de literatura / Agenesis and associated factors in patients with cleft lip and palate: a review of the literature

Objetivo: verificar as principais agenesias dentárias e os fatores associados em portadores de fissura labiopalatina por meio de uma revisão de literatura. Métodos: foi realizada uma revisão de literatura utilizando as bases de dados PubMed, SciELO e Google Acadêmico. Revisão de literatura: foram incluídos 34 artigos, sendo 2 casos clínicos, 15 estudos retrospectivos, 10 revisões de literatura, 4 estudos de caso-controle e 5 estudos transversais; além de 3 referências escolhidas através de outras buscas para complementar a revisão. A partir dos estudos incluídos no trabalho, foi possível verificar que a maior prevalência ocorre no sexo masculino. E a fissura que mais acomete a população é a transforame incisivo. Pôde-se analisar também que não há causa exata, porém, existem fatores predisponentes, como os ambientais e os hereditários. Considerações finais: esta revisão de literatura poderá auxiliar os profissionais de saúde para a realização de diagnóstico e planejamento precoces, a fim de encontrar o melhor e mais eficiente tratamento para cada caso. O tratamento precoce, por uma equipe multidisciplinar, certamente garantirá uma melhor qualidade de vida aos pacientes.(AU)

Objective: to verify the main dental agenesis and associated factors in cleft lip and palate through a literature review. Methods: a literature review was carried out using PubMed, SciELO and Google Scholar databases. Literature review: 34 studies were included, 2 clinical studies, 1 retrospective study, 10 literature reviews, 4 case-control studies and 5 cross-sectional studies. In addition to 3 references chosen through other searches complementary to the review. From the included studies, it was verified a higher frequency of cleft lift and palate for the male sex, and a higher frequency of more severe clefts, such as the incisive transformation, in comparison to the labiopalatine. It can also be analyzed that there is no exact cause; however, there are environmental and hereditary predisposing factors. Final considerations: this literature review may help health professionals to carry out early diagnosis and treatment planning, in order to find the best and most efficient treatment for each case. Early treatment by a multidisciplinary team will certainly guarantee a better quality of life for patients.(AU)

Analysis of nasal air conditioning in subjects with unilateral cleft lip nasal deformity.

This study evaluated the impact of unilateral cleft lip nasal deformity (uCLND) on the ability of the nasal passages to warm and humidify inspired environmental air using computational fluid dynamics (CFD) modeling. Nasal air conditioning was simulated at resting inspiration in ten individuals with uCLND and seven individuals with normal anatomy. The overall heat and water transfer through nasal mucosa was significantly greater (p = 0.02 for both heat and moisture fluxes) on the non-cleft side than on the cleft side. Unilateral median and interquartile range (IQR) for heat flux (W/m2) was 190.3 (IQR 59.9) on the non-cleft side, 160.9 (IQR 105.0) on the cleft side, and 170.7 (IQR 87.8) for normal subjects. For moisture flux (mg/(s·m2), they were 357.4 (IQR 112.9), 298.7 (IQR 200.3) and 320.8 (IQR 173.0), respectively. Significant differences of SAHF50 between cleft side of uCLND and normal existed except for anterior region. Nevertheless, air conditioning ability in subjects with uCLND was generally comparable to that of normal subjects.

Long-term growth patterns in children born with cleft lip and/or palate. A systematic review.

INTRODUCTION: Introduction: in children with cleft lip and/or palate nutritional status and growth may be impaired due to early life feeding difficulties. Objective: to review the existing literature on the nutritional prognosis during childhood of patients undergoing surgery for cleft lip and/or palate (CLP), their body composition and growth patterns from 2 to 10 years of age, and the possible effects of their early nutritional status on the long-term onset of overweight. Methods: a systematic search of growth and body composition parameters in 2-10 year-old CLP children, including cross-sectional and longitudinal studies, and using the Pubmed and Scopus databases. From the 2,983 retrieved articles, 6 were finally included. Results: two studies out of 6 were longitudinal and the other 4 were cross-sectional, including very heterogeneous samples. Weight and height were used as growth parameters in 2 studies; 2 studies used body mass index (BMI); and the remaining 2 used indexes of nutritional status derived from anthropometric measures. The studies showed discrepancies among results: 3 of them found growth differences between children with CLP and their counterparts, whereas the other 3 did not. The two longitudinal studies did not show any significant differences between the mean BMI z-scores or growth curves of cleft patients and their counterparts. When differences existed, the most affected group was that under 5 years, syndromic children, and adopted children with CL/P. Conclusions: the literature is scarce comparing growth patterns between children with CLP and controls, and results cannot confirm that children with CLP aged 2-10 years, excluding those with syndromes or belonging to vulnerable populations, have different growth patterns or a worse nutritional status than their counterparts.

INTRODUCCIÓN: Introducción: en niños con fisura labial y/o palatina, el estado nutricional y el crecimiento pueden verse afectados debido a dificultades en la alimentación. Objetivos: revisar el pronóstico nutricional de pacientes sometidos a cirugía de fisura labiopalatina (FLP), su composición corporal y sus patrones de crecimiento de los 2 a los 10 años, así como los posibles efectos del estado nutricional durante la primera infancia sobre la aparición posterior de sobrepeso. Métodos: búsqueda sistemática de parámetros de crecimiento y composición corporal en niños con CLP de 2 a 10 años, incluyendo estudios transversales y longitudinales en las bases de datos Pubmed y Scopus. De los 2983 artículos potencialmente relevantes, 6 fueron finalmente incluidos. Resultados: dos estudios de 6 fueron longitudinales y los otros 4, transversales, con muestras muy heterogéneas. El peso y la altura se utilizaron como parámetros de crecimiento en 2 estudios; 2 estudios utilizaron el índice de masa corporal (IMC), y los otros 2, índices del estado nutricional a partir de medidas antropométricas. Los estudios mostraron discrepancias entre los resultados: 3 de ellos encontraron diferencias de crecimiento entre los niños con CLP y sus coetáneos, mientras que los otros 3, no las encontraron. Los dos estudios longitudinales no mostraron diferencias significativas entre el IMC (z-score) ni entre las curvas de crecimiento de los pacientes con FLP y sus coetáneos. Cuando existían diferencias, el grupo más afectado fue el de los menores de 5 años, niños sindrómicos y niños adoptados con CL/P. Conclusiones: la literatura sobre los patrones de crecimiento de los niños con CLP es escasa y los resultados no pueden confirmar que los niños con CLP de 2 a 10 años, excluyendo aquellos con síndromes o pertenecientes a poblaciones vulnerables, tengan patrones de crecimiento diferentes o un peor estado nutricional que sus coetáneos.

"Mine did not breastfeed", mothers' experiences in breastfeeding children aged 0 to 24 months with oral clefts in Uganda.

BACKGROUND: Appropriate breastfeeding is vital for infant and young child nutrition. Annually, oral clefts affect 0.73 per 1000 children in Uganda. Despite this low incidence, children with a cleft face breastfeeding difficulty which affect their nutrition status. In addition, knowledge on maternal experiences with breastfeeding and support is limited. We explored maternal perceptions, experiences with breastfeeding and support received for their children 0 to 24 months with a cleft attending Comprehensive Rehabilitative Services of Uganda (CoRSU) Hospital. METHODS: This cross-sectional study combined quantitative and qualitative methods. We consecutively recruited 32 mothers of children with a cleft aged 0 to 24 months attending CoRSU hospital between April and May 2018. A structured questionnaire collected data on breastfeeding practices and device use (n = 32). To gain a broad understanding of mothers' perceptions and experiences with breastfeeding and support received, we conducted two Focus Group Discussions (in each, n = 5), and 15 In Depth Interviews. Descriptive statistics were analyzed using SPSS software. Qualitative data were analyzed thematically. RESULTS: Of the 32 children with a cleft, 23(72%) had ever breastfed, 14(44%) were currently breastfeeding, and among those under 6 months, 7(35%) exclusively breastfed. Of 25 mothers interviewed in IDIs and FGDs, 17(68%; IDIs = 8/15, FGD1 = 5/5 and FGD2 = 4/5) reported the child's failure to latch and suckle as barriers to breastfeeding. All ten mothers who used the soft squeezable bottle reported improved feeding. Nineteen (76%) mothers experienced anxiety and 14(56%), social stigma. Family members, communities and hospitals supported mothers with feeding guidance, money, child's feeds and psycho-social counselling. Appropriate feeding and psycho-social support were only available at a specialized hospital which delayed access. CONCLUSIONS: Breastfeeding practices were sub-optimal. Mothers experienced breastfeeding difficulties, anxiety and social stigma. Although delayed, feeding, social and psycho-social support helped mothers cope. Routine health care for mothers and their children with a cleft should include timely support.

Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile.

BACKGROUND: The S-adenosyl-methionine (SAM) availability is crucial for DNA methylation, an epigenetic mechanism involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) expression. The aim of this study was to assess the association between single-nucleotide polymorphisms (SNPs) of genes involved in SAM synthesis and NSCL/P in a Chilean population. METHODS: In 234 cases and 309 controls, 18 SNPs in AHCY, MTR, MTRR, and MAT2A were genotyped, and the association between them and the phenotype was evaluated based on additive (allele), dominant, recessive and haplotype models, by odds ratio (OR) computing. RESULTS: Three deep intronic SNPs of MTR showed a protective effect on NSCL/P expression: rs10925239 (OR 0.68; p = 0.0032; q = 0.0192), rs10925254 (OR 0.66; p = 0.0018; q = 0.0162), and rs3768142 (OR 0.66; p = 0.0015; q = 0.0162). Annotations in expression database demonstrate that the protective allele of the three SNPs is associated with a reduction of MTR expression summed to the prediction by bioinformatic tools of its potentiality to modify splicing sites. CONCLUSIONS: The protective effect against NSCL/P of these intronic MTR SNPs seems to be related to a decrease in MTR enzyme expression, modulating the SAM availability for proper substrate methylation. However, functional analyses are necessary to confirm our findings. IMPACT: SAM synthesis pathway genetic variants are factors associated to NSCL/P. This article adds new evidence for folate related genes in NSCL/P in Chile. Its impact is to contribute with potential new markers for genetic counseling.

Preliminary evaluation of pre-speech and neurodevelopmental measures in 7-11-week-old infants with isolated oral clefts.

BACKGROUND: The purpose of this research study was to evaluate the earliest markers of vocal functioning and neurological development in infants with isolated oral cleft of the lip and/or palate (iCL/P). METHODS: Participants were recruited through advertisements and clinic visits at a local mid-western university. A total of eight participants (four unaffected and four with iCL/P), ranging in age from 7.29 to 11.57 weeks, were enrolled and completed demographic and pre-speech measures. A subset of six males (four unaffected and two with iCL/P) successfully completed a structural magnetic resonance imaging scan. RESULTS: Patterns of disrupted vocal control and reduced myelinated white matter were found in participants with iCL/P. CONCLUSIONS: The findings of this study provide a foundation from which to build further research on the neuronal development of infants with oral clefts: the need to evaluate measures of cortical development, inclusion of information on anesthesia exposure and airway obstruction, and suggestions for avoiding identified pitfalls/blocks to obtaining data are discussed. IMPACT: Research in children with isolated oral clefts has demonstrated higher rates of learning disorders connected to subtle differences in brain structure. There is no work evaluating the potential impact of exposure to anesthesia on development. This is the first known attempt to evaluate brain structure and function in infants with isolated oral clefts before exposure to anesthesia. Potential trends of early vocal issues and structural brain differences (less myelinated white matter) were identified in infants with isolated oral clefts compared to unaffected controls. Differences in brain structure and function in infants with isolated oral clefts may be present before surgery.

Three-dimensional finite element analysis of initial displacement and stress on the craniofacial structures of unilateral cleft lip and palate model during protraction therapy with variable forces and directions.

Maxillary protraction and expansion is recommended to treat midfacial deficiency in patients with cleft lip and palate (CLP), where amount and direction of forces can change displacement and stress. This study assessed the initial displacement and stresses using Facemask and Maxgym forces with and without RME at +20∘, 0∘, and -20∘ angulation using a finite element (FE) model of unilateral cleft lip and palate (UCCLP). The Initial displacement and stress were more for protraction with expansion as compared to only protraction. Asymmetric displacement was observed with more on cleft than on noncleft side and more on dental than skeletal structures. Palatal plane rotated less upward, increased arch width and decreased arch length was observed with protraction with expansion.

Assessment of Masticatory Muscle Function in Patients with Bilateral Complete Cleft Lip and Palate and Posterior Crossbite by means of Electromyography.

Aim: The aim of this study was to evaluate the electrical activity of the masticatory muscles in children with a bilateral complete cleft lip and palate (BCCLP) and posterior crossbite as well as in noncleft subjects with no malocclusion. Another purpose of the study was to examine the possible factors associated with this muscle activity. Methods: The study included 52 children with mixed dentition and Class I occlusions (20 patients with nonsyndromic BCCLP and 32 subjects with no clefts). All the cleft patients had posterior crossbite. The surface electromyography (sEMG) was used to identify the electrical potentials of the temporalis and masseter muscles. The electromyographical (EMG) recordings were taken with a DAB-Bluetooth Instrument (zebris Medical GmbH, Germany) at rest and during maximum voluntary clenching (MVC). The relationships between muscle EMG activity and independent variables were identified through multivariate logistic regression analysis. Results: The EMG activity of the temporalis muscles at rest was significantly higher in BCCLP patients with malocclusion in comparison with the noncleft subjects with normal occlusion. During MVC, significantly lower electrical potentials of the temporalis and masseter muscles were observed in cleft patients compared to the noncleft group. The presence of BCCLP, unilateral posterior crossbites, increased vertical overlap, and increased overjet are factors strongly associated with higher temporalis muscle EMG activity at rest. Conclusion: The use of surface electromyography in imaging muscle function showed that children with BCCLP and posterior crossbite exhibited altered masticatory muscle potentials at rest and during clenching. The presence of unilateral posterior crossbites, increased vertical overlap, and increased overjet had a significant impact on temporalis muscle activity in cleft patients. This knowledge is important in the aspect of early and proper diagnosis and orthodontic treatment of malocclusions, thereby achieving correct occlusion and improvement in muscle function.

The biomechanical evaluation of magnetic forces to drive osteogenesis in newborn's with cleft lip and palate.

This study examined the potential for dental magnets to act as a driving force for osteogenesis in the palate of newborns with a unilateral cleft lip and palate. In the first part of the study dental magnets were arranged in a set up mimicking a distraction device and the curves of the magnetic attraction force versus gap distance curves generated, with and without the presence of palatal rugae tissue in between both sides of the distraction device. The attraction forces ranged from 1 to 12 N depending on the gap distance and the presence of soft tissue in the gap. In the second part of the study these forces were used as input for a 3D finite element model of the palate of a newborn affected by unilateral cleft lip and palate. In the analysis of load transfer, it was found that the strains generated by a magnetically induced distraction exceed 1,500 µstrain suggesting that bone locally is submitted to mild overload leading to bone apposition.

Evaluation of nasal airflow resistance of operated unilateral cleft lip and palate surgery patients compared with skeletal class III individuals.

OBJECTIVE: The purpose of this study was to measure the nasal airflow resistance of operated unilateral cleft lip and palate (UCLP) patients using the anterior rhinomanometry method compared with non-cleft skeletal class III individuals with isolated maxillary hypoplasia serving as the control group. MATERIAL&METHODS: Sixteen UCLP patients who have undergone lip and palate reconstructions and alveolar cleft grafting but not advanced surgeries as the study group and 16 non-cleft skeletal class III participants as the control group (corresponded for age and sex to the study group) were included in this prospective study. All of the patients had class III occlusion due to isolated maxillary hypoplasia. Nasal airflow was measured with anterior rhinomanometry (in ml/sec) for each nostril separately. For evaluation of nasal side subgroups of the UCLP group for nasal resistance, the cleft sides and non-cleft sides of individuals were examined in two separate groups. The nasal side resistance of the control group was evaluated as the average of both nasal side resistances. The nasal resistances for nasal sides and total nasal resistance were measured in Pa/L/sec. The observed data were analyzed using Kolmogorov-Smirnov test used for normality, and the Student t-test and Mann Whitney U test used to determine the differences between the groups. P values of <0.05 were considered statistically significant. RESULTS: As the primary outcome of this study, it was found that both the cleft sides and non-cleft sides of the UCLP individuals had statistically significantly higher nasal resistance than the healthy skeletal class III control group (p < 0.05). It was revealed that the cleft side had more nasal resistance than the non-cleft side for both inspiration and expiration, but the results were not statistically significant (p = 0.41/p = 0.28). CONCLUSION: The results showed that operated UCLP patients have nasal resistance and breathing problems, even when lip, palate, and alveolar cleft operations have been performed.

The Impact of Middle Eastern Crisis on Cleft Care: Evaluation of Demographic and Perioperative Data in Syrian Refugees With Cleft Lip and Palate.

The cleft lip and palate (CL/P) define a heterogeneous group of congenital deformities, which are morphologically highly diverse, with a complex and multifactorial etiology. Affected children may experience social problems due to negative effects on speech, hearing, facial appearance, as well as negative psychological effects on the parents. In 2011, after the civil war began in Syria, a great wave of immigration began to Turkey and other neighboring countries. Refugees may not be able to receive optimal health care because of cultural differences, socioeconomic status, language problems, and psychosocial problems. To increase awareness about this issue, the authors investigated the demographic, perioperative, and post-operative data of Syrian refugee patients with CL/P who were admitted to our cleft center between January 2016 and May 2019. Sixty-eight refugees with CL/P were detected as the result of the screening. Unlike the protocol the authors follow in our center, cleft lip repair was performed at an average of 7.6 months and cleft palate repair was performed at an average of 28.7 months of age. The rate of fistula was found 26.2%.The civil war in Syria has caused the repair of the patients with cleft lip and palate at a later age, hampered the follow-up and treatment, and caused more complications. Considering the demographic, social, economic and cultural characteristics of the patients, it was demonstrated that the necessary health precautions and infrastructure should be provided on the pillar of plastic surgery.

The anti-epileptic drug valproic acid causes malformations in the developing craniofacial skeleton of zebrafish larvae.

Valproic acid (VPA) is an anti-epileptic drug known to cause congenital craniofacial abnormalities, including orofacial clefts (OFC). The exact mechanisms by which VPA leads to craniofacial skeletal malformations are poorly understood. In this study, we investigated the effects of VPA on cartilage and bone formation in the zebrafish larval head during 1-13 hpf (early) and 25-37 hpf (late) development in which cranial neural crest cells (CNCCs) arise and then proliferate and differentiate, respectively. Double-staining for cartilage and bone at 5 dpf revealed that VPA reduced cartilage and bone formation in a dose-dependent manner after both early or late exposure. Several different CNCC-derived cartilage and bone elements were affected in both groups. In the early group (100 µM VPA), the posterior head length and the ethmoid plate were reduced in length (both p < 0.01), while mineralization of 4 out of 9 bone elements was often lacking (all p < 0.01). In the late group (100 µM VPA), also the posterior head length was reduced as well as the length of the ceratohyals (both p < 0.01). Similar to early exposure, mineralization of 3 out of 9 bone elements was often lacking (all p < 0.01). These results indicate that both CNCC formation (early) and differentiation (late) are hampered by VPA treatment, of which the consequences for bone and cartilage formation are persistent at 5 dpf. Indeed, we also found that the expression of several genes related to cartilage and bone was upregulated at 5 dpf. These data indicate a compensatory reaction to the lack of cartilage and bone. Altogether, VPA seems to induce craniofacial malformations via disturbed CNCC function leading to defects in cartilage and bone formation.

Osteocalcin and regulatory cytokine imbalance in children with congenital cleft lip and palate.

The aim of the work was a comprehensive assessment of the cytokine system and peripheral blood osteocalcin with the establishment of features of their interconnections in children with congenital cleft lip and palate (CCLP) in comparison with corresponding controls at different age periods. Levels of IL17, IL4, IL6, IL1ß, IFNγ and osteocalcin were analyzed by enzyme immunoassay in the peripheral blood of 80 children (0-12 months, 1-3 years, 4-9 years, 10-15 years) with CCLP and age-appropriate control of healthy individuals (40 people). An analysis of the obtained data shows that in children with CCLP we revealed significant differences between pro-inflammatory (IL1ß, IL6, IL17), regulatory (IFNγ), anti-inflammatory (IL4) cytokines and osteocalcin compared with controls. Differences were found in the content of IL17, IFNγ, IL4 and osteocalcin in healthy children and in children with CCLP in postnatal ontogenesis. Cytokine deregulation of immunosteogenesis in CCLP, leading to a significant deficit of osteocalcin in the first year of life due to imbalance of the cytokine profile: discordant IL17, IFNγ and IL4 were detected. Obtained data are undoubtedly important in the future for developing new strategies for targeted therapy aimed at normalizing osteocalcin levels at different age periods in children with CCLP.

Analysis of permanent second molar development in children born with cleft lip and palate.

OBJECTIVE: The study of dental development in individuals born with cleft lip and palate (CLP) serves to determine when orthodontic intervention should start. To evaluate the permanent second molar development in children born with cleft lip and palate according to Demirjian's and Nolla's methods. METHODOLOGY: Out of a total of 513 digital panoramic radiographs, 113 pairs of children aged 3 to 16 years were selected. The exams were from children born with or without cleft lip and palate, of the same sex, with an age difference of up to 30 days. The images were analyzed by three examiners and reliability was checked through intra-examiner agreement by the Kappa test. The data were analyzed by Wilcoxon's and Mann-Whitney tests according to each dataset. RESULTS: The findings indicated delayed development of the permanent second molars in children with CLP (P<0.001). The development of the right permanent second molar was delayed compared to the left molar in children with CLP. Moreover, mandibular teeth showed significantly earlier development than maxillary teeth in both the case and control groups. There was no significant difference in the development of permanent second molars between sexes. CONCLUSION: Children with CLP presented delay in the development of permanent second molars.

Surgical maxillary advancement and speech resonance: comparison among cleft types. / Avanço cirúrgico de maxila e ressonância de fala: comparação entre os tipos de fissura.

Purpose This study investigated the influence of the cleft type on the appearance of hypernasality after surgical maxillary advancement (MA). Methods Nasality was determined by measurement of nasalance (acoustic correlate of nasality) by nasometry. The study involved analysis of the nasalance scores of 17 individuals with isolated cleft palate (CP), 118 with unilateral cleft lip and palate (UCLP) and 69 with bilateral cleft lip and palate (BCLP), of both sexes, aged 18 to 28 years, after MA. Only individuals with normal nasalance scores indicating balanced resonance before MA were included in this study. Nasometry was performed 3 days before and 15 months after MA, on average. The proportion of patients who presented nasalance scores indicating hypernasality after surgery was calculated by the ANOVA test, and comparison among the different cleft types was evaluated by the chi-square test (p < 0.05). Results No significant difference was found in the proportions of individuals with hypernasality among the cleft types. Conclusion Nasometry showed that the appearance of hypernasality after MA in individuals with cleft palate with or without cleft lip occurred in similar proportions, regardless of the cleft type.

Receptive and Expressive Vocabulary Skills and Their Correlates in Mandarin-Speaking Infants with Unrepaired Cleft Lip and/or Palate.

BACKGROUND: Vocabulary skills in infants with cleft lip and/or palate (CL/P) are related to various factors. They remain underexplored among Mandarin-speaking infants with CL/P. This study identified receptive and expressive vocabulary skills among Mandarin-speaking infants with unrepaired CL/P prior to cleft palate surgery and their associated factors. METHODS: This is a cross-sectional study involving patients at the Cleft Lip and Palate Center of the Stomatological Hospital of Xi'an Jiaotong University between July 2017 and December 2018. The Putonghua Communicative Development Inventories-Short Form (PCDI-SF) was used to assess early vocabulary skills. RESULTS: A total of 134 children aged 9-16 months prior to cleft palate surgery were included in the study. The prevalences of delays in receptive and expressive vocabulary skills were 72.39% (95% CI: 64.00-79.76%) and 85.07% (95% CI: 77.89-90.64%), respectively. Multiple logistic regression identified that children aged 11-13 months (OR = 6.46, 95% CI: 1.76-23.76) and 14-16 months (OR = 24.32, 95% CI: 3.86-153.05), and those with hard/soft cleft palate and soft cleft palate (HSCP/SCP) (OR = 5.63, 95% CI: 1.02-31.01) were more likely to be delayed in receptive vocabulary skills. CONCLUSIONS: Delays in vocabulary skills were common among Mandarin-speaking CL/P infants, and age was positively associated with impaired and lagging vocabulary skills. The findings suggest the necessity and importance of early and effective identification of CL/P, and early intervention programs and effective treatment are recommended for Chinese CL/P infants.

Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.

Basel-Vanagaite-Smirin-Yosef syndrome is a recently described autosomal recessive intellectual disability syndrome caused by variants in the MED25 gene. While it was originally identified in Brazil, it was further described in Israel by authors who are now the namesake of the condition. A 2018 publication further contributed to its delineation, but the patient's phenotype was complicated by a dual diagnosis. More recently, an article describing a set of affected siblings was published. We describe three, previously unreported, patients showing clinical variability for this newly defined syndrome. The major features determined by "reverse phenotyping" include significant to profound developmental delays/intellectual disability with absent or delayed speech, epilepsy, ocular abnormalities, cleft lip and/or palate, congenital heart disease, urogenital anomalies, skeletal abnormalities, brain malformations and/or microcephaly, failure to thrive, and dysmorphic features. The authors suggest the delineation of an acronym using the gene name and common features seen across the majority of patients reported so far. This new nomination, MED-DOCS, may help clinicians to recognize, suspect, and remember this novel syndrome.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due to advances in next-generation sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilodontic (BCD) syndrome albeit only recently. In this study, we identify eight novel protein-truncating variants, six de novo, in 13 participants from nine families presenting with craniofacial dysmorphisms including cleft palate and hypodontia, as well as congenital cardiac anomalies, limb dysmorphologies and neurodevelopmental disorders. Using conditional deletions in mice as well as CRISPR/Cas9 approaches to target CTNND1 in Xenopus, we identified a subset of phenotypes that can be linked to p120-catenin in epithelial integrity and turnover, and additional phenotypes that suggest mesenchymal roles of CTNND1. We propose that CTNND1 variants have a wider developmental role than previously described and that variations in this gene underlie not only cleft palate and BCD but may be expanded to a broader velocardiofacial-like syndrome.