Cleft Palate-Craniofacial Journal最新文献

Objective: To three-dimensionally (3D) analyze the maxillary morphology of infants with unilateral cleft lip and palate (UCLP) and preliminarily classify the alveolar arch to assist in personalization of sequence therapy.

Design: Retrospective study.

Setting: Patients with UCLP referred to outpatients' clinic.

Participants: 84 nonsyndromic infants with complete UCLP were recruited (58 boys, 26 girls, mean age 29.48 days).

Main outcome measure: Morphometric analysis was conducted on 3D maxillary models. Principal component analysis (PCA) and cluster analysis were combined to classify maxillary phenotypes preliminarily. The Wilcoxon Signed Rank test and the Kruskal-Wallis test were used to compare differences between variables. A P value less than .05 was considered statistically significant.

Results: The maxilla was divided into three types: narrow, homogenous and broad, accounting for 9.52%, 23.81% and 66.67% respectively. The alveolar cleft site (median value) was located in 61% of the total length of the alveolar arch. In the comparison of anterior and total alveolar lengths, the non-cleft side had longer alveolar bone than the affected side, a difference of approximately 2 mm. Pairwise comparisons of variables describing alveolar symmetry revealed significant differences in all subjects; whereas type C had poorer arch symmetry than types A and B, mainly in terms of anterior and overall symmetry.

Conclusions: In infants with UCLP, the maxillary alveolar arch was inherently asymmetrical with partially bone missing (about 2 mm). Significant differences in alveolar bone morphology and symmetry exist between different types of infants, with individuals with broad clefts (type C, the largest proportion) having the worst maxillary development.

Objective: Auriculocondylar syndrome (ARCND) is a set of rare craniofacial malformations characterized by variable micrognathia, ear malformations, and mandibular condyle hypoplasia, and other accompanying features with phenotypic complexity. ARCND2 caused by pathogenic variants in the PLCB4 gene is a very rare disease with less than 50 patients reported and only 36 different variants of the PLCB4 gene recorded in HGMD. This study aims to enrich the patient resources, clinical data and mutational spectrum of ARCND2.

Design: Case series study.

Setting: Guangzhou Women and Children's Medical Center and Guangdong Women and Children Hospital.

Patients: Two Chinese patients with ARCND2.

Main outcome measures: Clinical, radiological and molecular findings.

Results: Both the two patients presented with craniofacial and ear malformations, and feeding difficulties. Whole exome sequencing identified two different variants of the PLCB4 gene in these two patients with a heterozygous allele and a de novo mode of inheritance respectively. Patient 1 carried a known pathogenic c.1861C > T(p.Arg621Cys) missense variant, whereas Patient 2 had a novel c.225 + 1G > A splicing variant. Sanger sequencing confirmed the presence of PLCB4 variants in the proband and absence in the unaffected parents. These two PLCB4 variants were suggested as disease-causing candidates for these two patients. During a 5-year follow-up, Patient 2 gradually manifested crowded teeth, underweight, motor delay and intellectual disability.

Conclusions: In this study, we report two Chinese patients with ARCND2, describe their clinical and mutational features, and share a 5-year follow-up of one patient. Our study adds two additional patients to ARCND2, reveals a novel PLCB4 variant, and expands the phenotypic and genotypic spectrum.

Objectives: To evaluate buccolingual and mesiodistal inclination of cleft-adjacent maxillary permanent central incisors (U1) and canines (U3) in patients with unilateral cleft lip and palate (UCLP) in the late mixed dentition and to investigate the correlation between the alveolar cleft width and cleft-adjacent teeth inclination using cone beam computed tomography (CBCT).

Design: Observational cross-sectional retrospective study.

Setting: Department of Orthodontics, Hama University Dental School.

Patients: 32 patients with UCLP (22 boys, 10 girls; mean age = 10.53 ± 1.51 years).

Main outcome measure: Buccolingual and mesiodistal inclination of maxillary central incisors and canines were measured on both sides. Then, the cleft and non-cleft sides were compared using the Wilcoxon signed-rank test. Pearson's correlation was used to explore the association between the alveolar cleft width and cleft-adjacent U1 and U3 buccolingual and mesiodistal inclination.

Results: The cleft-adjacent central incisors were significantly inclined lingually and distally compared with their non-cleft antimeres (P = .003, P < .001, respectively). The cleft-adjacent canines were significantly inclined buccally and mesially compared with their non-cleft antimeres (P < .001, for both). A positive correlation was found between the buccolingual inclination of cleft-adjacent U1 and the alveolar cleft width (r = 0.49, P = .004).

Conclusions: Patients with UCLP demonstrated a significant lingual and distal inclination of cleft-adjacent U1 and a significant buccal and mesial inclination of cleft-adjacent U3. The buccolingual inclination of cleft-adjacent U1 tends to increase with increasing the alveolar cleft width; however, the correlation was weak.

Objective: This study was aimed at describing the level of stress and types of coping strategies used among Malay parents of children with cleft lip and/or palate (CL/P).

Design: Cross-sectional study.

Setting: A dental clinic and a general hospital.

Participants: Parents (N = 84) whose children were less than 12 years old with CL/P.

Methods: Socio-demographic data and clinical characteristics of CL/P were collected. Self-administered validated Malay versions of the stress scale from the Depressive, Anxiety and Stress Scale-42 (DASS-42) and COPE Inventory questionnaires were used. Descriptive statistics and Multivariate Analysis of Covariance were used for data analysis.

Results: The prevalence of stress among parents of children with CL/P was 21.4% [95% confidence interval (12.4, 30.4)]. The most common coping strategies were problem-focused (mean 58.15, standard deviation (SD) 7.75), followed by emotion-focused (mean 54.05, SD 4.78). The adjusted mean score for overall coping strategies was significantly different between stressed and non-stressed parents after adjustment for education, number of children, sex of child with CL/P, and cleft type [F (df) = 4.174 (3,74), P = .009]. There was a significant mean difference between stressed and non-stressed parents for avoidant coping strategies [P = .003]. Problem-focused and emotion-focused coping strategies did not differ after Bonferroni correction.

Conclusions: Around a fifth of parents caring for children with CL/P experienced stress and avoidant coping strategies were more common among stressed parents. Multi-disciplinary team care should provide social support to parents of children with CL/P.

Cleidocranial dysplasia (CCD) is a rare genetic condition that affects the bones and teeth. In our study, we presented three cases of CCD, including one with a new mutation and two with a family history. Case 1 had a unique heterozygous frameshift mutation (NM_001015051,c.762del, p.(Ser256Valfs*2)), while Case 2 and her brother (Case 3) had a common pathogenic missense mutation (NM_001015051,c.674G, p.Arg225Gln), which was also found in their father. The mutation in Case 1 was not reported before. Interestingly, the symptoms in Case 1, with the new mutation, were less severe than the other cases and the previous reports.

Objectives: To investigate cleft laterality dental arch relationship outcomes of children with non-syndromic complete unilateral cleft lip and palate (UCLP) in New Zealand.

Design: A retrospective nationwide study.

Settings: Virtual 3D orthodontic study models collected prior to undertaking secondary alveolar bone grafting.

Participants: A total of 104 patients with UCLP (L = 80: R = 24).

Outcome measures: Four calibrated assessors used the GOSLON Yardstick and 100 mm Visual Analogue Scale (VAS) to score the randomised models on 2 separate assessment sessions. Weighted Kappa were used to determine the intra/inter-rater reliability for the GOSLON and correlations for the VAS.

Results: Intra-rater reliability ranged from 0.57-0.88 (GOSLON) and 0.45-0.93 (VAS). Inter-rater reliability ranged from 0.62-0.86 (GOSLON) and 0.64-0.93 (VAS).GOSLON scores for the left UCLP were 31.2% for good/very good; 26.3% for fair; 42.5% for poor/very poor while the right UCLP scored 8.3% for good/very good; 37.5% for fair; 54.2% for poor/very poor. The mean VAS for left and right UCLP were 53.4 (sd 22.5) and 44.6 (sd 17.1) respectively. Neither the GOSLON nor VAS differences reached statistical significance (both P = .08).

Conclusions: From a clinical perspective right UCLP had worse dental arch relationship outcomes, however, these differences failed to reach statistical significance. Further studies using larger sample sizes are required to determine if cleft laterality is an important consideration when investigating UCLP dental arch outcomes.

Objective: To investigate speech development of children aged 5 and 10 years with repaired unilateral cleft lip and palate (UCLP) and identify speech characteristics when speech proficiency is not at 'peer level' at 10 years. Estimate how the number of speech therapy visits are related to speech proficiency at 10 years, and what factors are predictive of whether a child's speech proficiency at 10 years is at 'peer level' or not.

Design: Longitudinal complete datasets from the Scandcleft project.

Participants: 320 children from nine cleft palate teams in five countries, operated on with one out of four surgical methods.

Interventions: Secondary velopharyngeal surgery (VP-surgery) and number of speech therapy visits (ST-visits), a proxy for speech intervention.

Main outcome measures: 'Peer level' of percentage of consonants correct (PCC, > 91%) and the composite score of velopharyngeal competence (VPC-Sum, 0-1).

Results: Speech proficiency improved, with only 23% of the participants at 'peer level' at 5 years, compared to 56% at 10 years. A poorer PCC score was the most sensitive marker for the 44% below 'peer level' at 10-year-of-age. The best predictor of 'peer level' speech proficiency at 10 years was speech proficiency at 5 years. A high number of ST-visits received did not improve the probability of achieving 'peer level' speech, and many children seemed to have received excessive amounts of ST-visits without substantial improvement.

Conclusions: It is important to strive for speech at 'peer level' before age 5. Criteria for speech therapy intervention and for methods used needs to be evidence-based.

Objectives: To evaluate the quantitative values of linear and angular facial anthropometrics in patients with unilateral cleft lip and palate (UCLP) and compare them with those of patients with bilateral cleft lip and palate (BCLP) using three-dimensional (3D) facial imaging.

Design: Retrospective, observational, and cross-sectional study.

Setting: Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP).

Patients/ participants: In total, 61 non-syndromic patients with CLP who underwent multidisciplinary treatment and rehabilitated with a prosthesis were enrolled and divided into those with UCLP (G1; n = 31) and those with BCLP (G2; n = 30).

Intervention: Facial images were captured using a 3D camera after landmarks were marked on each patient's face. The software evaluated linear and angular parameters. Statistical tests were applied. Significance was determined as P < 0.05.

Main outcome measurements: Overall, 22 linear and 13 angular measurements were evaluated.

Results: The nasal length (P = 0.08), middle third of the face (P = 0.06), base nose width (P < 0.001), nasal root width (P < 0.001), nasal tip angle (P = 0.018), philtrum width (P < 0.001), lower face width (P = 0.039) and midfacial depth (P = 0.040) were significantly higher in G2; the upper cutaneous lip height was significantly higher in G1. Sexual dimorphism was observed except for linear measurements (linear distance between the labiale superius and labiale inferius landmarks, nasal root width, and upper cutaneous lip length) and angular measurements.

Conclusions: G2 had a greater length and width of nose and nasal root, nasal tip angle, philtrum width, and lower face width, midfacial depth, and midface third than G1. These findings also revealed the presence of sexual dimorphism.

Objective: The purpose of this study was to determine the normal ranges for overjet in healthy infants under 12 months of age.

Design: A cross sectional study of consecutive patients below 12 months of age.

Setting: The study was conducted at a private practice in Tampa, FL that specializes in pediatric craniomaxillofacial disorders.

Patients: All patients under the age 12 months were considered for entry into the study. Patients were excluded if they had temporomandibular joint pathology, sleep disordered breathing, facial trauma, or were diagnosed with a craniofacial anomaly.

Interventions: Measures of overjet, defined as the distance between the anterior surfaces of the alveolar ridges when in centric relation, were obtained.

Main outcome measure: The primary study outcome was the overjet of the enrolled patients.

Results: A total of 152 infants were included in this study. Of these, 51 were female, and 40 were born prematurely (ranging from 32-37 weeks of gestation). In neonates below 1 month of age, the mean overjet was 2.25 mm (95% CI 1.31-3.19). Multivariate linear regression analysis showed overjet to significantly decrease with age, at a mean rate of approximately 0.1 mm per month (coefficient of -0.09, 95% CI -1.61 to -0.02, p = 0.01). When controlling for potential confounders, average overjet was not shown to vary significantly between the sexes, with prematurity, with race, or with primary diagnosis at presentation.

Conclusion: This paper establishes normative values for overjet in infants below 12 months of age.

Objective: Information regarding how caregivers cope when using presurgical infant orthopedic (PSIO) appliances is sparse. This study aimed to understand caregivers' perspectives and experiences with contemporary PSIO treatment.

Design: PSIO videos shared on the YouTube™ platform were used as the data source. Videos with caregivers were identified (n = 21) and portions with caregiver narratives were transcribed. This was followed by the application of a six-step thematic analysis as conceptualized by Braun and Clarke (2006, 2019).

Results: Two themes were identified from the caregiver narratives in the PSIO videos. The Family Journey theme included reaction to diagnosis, choice of center, burden of care, care commitment, coping, and testimonials. The Information theme included PSIO techniques and PSIO benefits.

Conclusion: Multifaceted challenges and coping strategies were described by caregivers during the PSIO phase. Caregivers remained committed to treatment despite the burden of care, were motivated by an understanding of the benefits of PSIO, and customized care based on their individual strengths and needs. Study results can help providers gain an understanding of what caregivers experience outside the clinical environment.