Validation and comparison of 2D grading scales and 3D volumetric measurements for outcome assessment of bone-grafted alveolar clefts in children.

BACKGROUND: Several methods have been proposed to assess outcome of bone-grafted alveolar clefts on cone beam computed tomography (CBCT), but so far these methods have not been compared and clinically validated. OBJECTIVES: To validate and compare methods for outcome assessment of bone-grafted clefts with CBCT and provide recommendations for follow-up. METHODS: In this observational follow-up study, two grading scales (Suomalainen; Liu) and the volumetric bone fill (BF) were used to assess the outcome of 23 autogenous bone-grafted unilateral alveolar clefts. The mean age at bone grafting was 9 years. The volumetric BF was assessed in five vertical sections. The bone-grafted cleft outcome was based on a binary coding (success or regraft) on a clinical multidisciplinary expert consensus meeting. Grading scales and volumetric assessment were compared in relation to the bone-grafted cleft outcome (success or regraft). Reliability for the different outcome variables was analyzed with intra-class correlation and by calculating kappa values. LIMITATIONS: The study had a limited sample size. Clinical CBCT acquisitions had a varying tube current and exposure time. RESULTS: Volumetric 3D measurements allowed for outcome assessment of bone-grafted alveolar clefts with high reliability and validity. The two grading scales showed highly reliable outcomes, yet the validity was high for the Suomalainen grading scale but low for the Liu grading scale. CONCLUSIONS: Volumetric 3D measurement as well as the Suomalainen grading can be recommended for outcome assessment of the bone-grafted cleft. Yet, one must always make a patient-specific assessment if there is a need to regraft.

A CBCT Based Assessment of Canine Eruption and Development Following Alveolar Bone Grafting in Patients Born With Unilateral Cleft lip and/or Palate.

To three-dimensionally assess and visualize the eruption path and development of the maxillary canine following alveolar bone grafting in patients born with cleft lip and palate. A further objective of this analysis was to assess how the presence of the lateral incisor impacts the eruption path of the canine.Observational follow-up study.Stockholm Craniofacial Team, Karolinska University Hospital, Sweden.Thirty children born with non-syndromic unilateral cleft lip with or without palate were consecutively included.CBCT scans of the maxilla were taken six months before and six months after the alveolar bone-grafting surgery for each patient.Canine eruption (angulation and vertical movement) and canine development (length and volume).There was a significant difference pre- and post-operatively of the canine angulation between the cleft and non-cleft sides. The mean angulation on the cleft side was 14.7° (SD = 11.1°) while on the non-cleft side, it was 4.9° (SD = 9.2°). No significant differences were noted between cleft-side and non-cleft side canines in terms of amount of vertical eruption and volumetric development. Absence of the lateral incisor did not significantly contribute to either canine angulation or its vertical eruption on the cleft-side.Higher angulation of the canine on the cleft side indicates a higher risk of future canine impaction. Presence or absence of the lateral incisor did not significantly affect canine angulation or its vertical eruption. Increased age and children born with total cleft lip and palate imply a higher risk of angulated canines on the cleft side.

Comparing oral health-related quality of life, oral function and orofacial aesthetics among a group of adolescents with and without malocclusions.

OBJECTIVE: The aim was to analyze how malocclusion relates to perception of oral health-related quality of life (OHRQOL), oral function and orofacial aesthetics among a group of adolescents in Sweden. MATERIAL AND METHODS: Thirty patients with a need for orthodontic treatment (IOTN-DHC grade 4 and 5) and 30 patients with normal occlusion (IOTN-DHC grade 1), aged 13-17 years, were included in the study. A questionnaire containing three parts was used; The Oral Health Impact Profile (OHIP-S14), Jaw Functional Limitational scale (JFLS-20) and Orofacial Aesthetic scale (OES). Malocclusions, orthodontic treatment need and confounders, such as earlier dental treatment and temporomandibular disorders, were registered. RESULTS: Adolescents with malocclusions were more often embarrassed by their mouth and teeth compared to controls (p < .05). Aesthetically, adolescents with malocclusions were more negatively affected by the appearance of the mouth and teeth as well as the over-all facial appearance (p < .05). CONCLUSIONS: Malocclusions clearly affects the adolescents with need for orthodontic treatment in this study. It influences their OHRQOL in the psychosocial impact dimension. Aesthetically they perceive their oral and facial appearance as worse compared to controls. Although embarrassed and unpleased with their oral appearance they still rate themselves as having a good oral health with low jaw function limitations.

Dental age, agenesis, and morphological anomalies in individuals with Van der Woude syndrome and isolated cleft palate.

OBJECTIVES: To analyse the differences between dental age and chronological age and dental anomalies in individuals with Van der Woude syndrome (VWS) and compare with non-syndromic cleft palate (NSCP) and non-cleft controls. MATERIALS AND METHODS: In total, 204 oral panoramic radiographs (118 girls and 86 boys) consisting of 51 VWS patients (age x̅ = 8.17 ± 1.34 years), 51 NSCP patients (age x̅ = 8.09 ± 1.41 years), and 102 normative non-cleft children (age x̅ = 8.62 ± 1.24 years) were collected. Dental stages were assessed by the Demirjian method, with the local dental maturity index as reference. Dental anomalies including agenesis were investigated. Statistical differences were determined by One-way ANOVA and regression. Repeatability was calculated by an intra-class correlation test and 95% confidence interval. RESULTS: The difference between dental age and chronological age of the VWS group (0.12 years) and the NSCP group (0.09 years) was significantly lower than the non-cleft group (0.40 years) (P = 0.002). There was no significant difference between the VWS and NSCP groups (P = 0.885). Hypodontia was more prevalent in both the VWS group (37.25%, P = 0.0001) and the NSCP group (19.60%, P = 0.035) compared with the non-cleft group (5.88%). The odds for hypodontia in the VWS group were approximately double compared with the NSCP group. In VWS patients, the most commonly missing teeth were the permanent second premolars and the maxillary permanent laterals incisors. Peg-shaped teeth had a prevalence of 13.70% in VWS patients. CONCLUSIONS: In VWS and NSCP patients compared with non-cleft children, the difference in dental age compared with chronological age decreased. Hypodontia occurs at a high prevalence in VWS and NSCP patients compared with non-cleft children.

Reliability and Predictive Validity of Dental Arch Relationships Using the 5-Year-Olds' Index and the GOSLON Yardstick to Determine Facial Growth.

AIMS: To determine reliability and predictive validity of the 5-year-olds'(5YO) Index and GOSLON Yardstick in 119 patients born with unilateral cleft lip and palate at 5, 7/8, 10, 15/16, and 19 years. METHODS: Five hundred thirty-four dental study models were appraised by 2 teams in 2 centers, twice in each center. Intrateam and interteam reliability in scoring the models was calculated using κ. Dental arch prediction rates were calculated as the proportion of models remaining in the same category (good-scores 1 and 2; fair-score 3; poor-scores 4 and 5) over time. RESULTS: Intrateam and interteam κ statistics ranged from 0.74 to 0.89 and from 0.74 to 0.81, respectively. The 5YO Index and GOSLON Yardstick at 5 years produced almost identical results. The prediction rate of 19-year-old (n = 106) outcome was >80% for those in groups 1 and 2 at 5 years, while for those in groups 4 and 5 prediction was poor (<40%). Prediction of groups 4 and 5 remained poor until 10 years when it increased to 77%. At 15/16 years prediction rate was 93% for those in groups 4 and 5. Prediction of cases in group 3 was very poor at all ages. CONCLUSIONS: These results question the predictive value of "poor" dental arch relationships before 10 years of age. However, the predictive value of "good" dental arch relationship scores over time is good in all age groups. This has implications for audit policies to predict facial growth outcomes.

Taurodontism in the first permanent molars in Van der Woude syndrome compared to isolated cleft palate.

OBJECTIVES: To analyse prevalence, pattern, and severity of taurodontism in individuals with Van der Woude syndrome (VWS) exhibiting cleft palate and compare with aged-matched non-syndromic cleft palate (NSCP) and non-cleft controls. MATERIALS AND METHODS: One hundred and seventy-eight dental panoramic tomographs (DPTs) (105 girls and 73 boys) consisting of 42 VWS patients (x¯=8.55±1.02 years), 42 NSCP patients (x¯=8.59±1.02 years), and 94 normative non-cleft children (x¯=8.79±1.16 years) were assessed and their first permanent molars evaluated. Measurement 3 of the taurodontism index developed by Shifman and Chanannel with the Tulensalo modification was used. Prevalence, pattern, and severity were compared between groups. Statistical differences were determined by one-way analysis of variance and Fisher test. Repeatability was calculated by Cohens Kappa test. RESULTS: The prevalence of taurodontic molars was 59.5% in VWS, 45.2% in NSCP, and 26.6% in non-cleft controls. The prevalence and severity of taurodontism in VWS and NSCP were significantly higher than in non-cleft children in all first permanent molars. There was no significant difference in prevalence and severity between VWS and NSCP. The odds for having taurodontism in the VWS group was approximately double compared to the NSCP group. Most of the taurodontic molars showed hypotaurodontism and taurodontism occurred bilaterally more frequently than unilaterally. CONCLUSION: This study shows a higher prevalence of taurodontism in VWS and NSCP. Most taurodontic molars are hypotaurodontic and most occur bilaterally.

Validation of reported dentoalveolar relationships in the Swedish Quality Registry for Cleft Lip and Palate.

OBJECTIVES: The present study validated data that had been reported to the Swedish Quality Registry for Cleft Lip and Palate (CLP) under new requirements from 2016, when use of the 5-year-old (5YO) and the Modified Huddart and Bodenham (MHB) indices for rating occlusion in children born with unilateral CLP (UCLP) was introduced. MATERIALS AND METHODS: The sample included blinded study casts (n = 97) and photos (n = 4) of 5-year-old children who had been born with UCLP in 2009-2011 and were enrolled at one of six cleft centres in Sweden. Fourteen orthodontists from the centres assessed the patients (n = 101) using the 5YO and the MHB indices. Median 5YO and MHB scores of the 14 assessments were compared with original registry data (n = 61). Each centre devised code keys to protect the identities of their patients in the registry. RESULTS: Interrater agreement among the 14 orthodontists was good for the 5YO index (quadratic-weighted kappa: 0.72-0.92) and the MHB index (intraclass correlation coefficient: 0.991-0.994). Comparisons of median 5YOs for each identifiable child with their registry data (n = 61) found total agreement for 70.5 per cent. Comparisons between median MHBs and registry data showed very good or good agreement in 93.4 per cent of the cases. LIMITATIONS: Two teams lost their code keys, which reduced the sample to 61 patients. CONCLUSIONS: The dentoalveolar outcome data in the CLP registry was trustworthy. There was good agreement among the Swedish cleft teams assessing the 5YO and MHB indices in children born with UCLP at age 5 years.

Mean GOSLON Yardstick Scores After 3 Different Treatment Protocols-A Long-term Study of Patients With Unilateral Cleft Lip and Palate.

OBJECTIVES: (1) To evaluate dental arch relationships, with the Great Ormond Street, London and Oslo (GOSLON) Yardstick, of participants with Unilateral cleft lip and palate (UCLP) and treated with 1-stage palatal closure with 3 different surgical protocols (2) to compare the mean GOSLON ratings with other CLP centers. DESIGN: Retrospective study of medical charts and dental models. SETTING: Karolinska University Hospital, Stockholm, Sweden. PARTICIPANTS: Eighty-seven patients with UCLP operated with 1-stage palatal repair. Thirty-five were operated with Veau-Wardill-Kilner (VWK) technique 1975 to 1986, 31 with minimal incision technique (MIT) from 1987 to 1997, and 21 according to MIT with muscle reconstruction (MITmr) 1998 to 2004. INTERVENTIONS: Dental casts at ages 5 (n = 87), 7 to 8 (n = 27), 10 (n = 81), 16 (n = 61), and 19 (n = 35) years were rated by 10 assessors with the GOSLON Yardstick. Information of other interventions was retrieved from patients' charts. MAIN OUTCOME MEASURES: Mean GOSLON ratings. RESULTS: A total of 82% of the participants were rated as having excellent to satisfactory outcome. Weighted κ statistics for the 10 assessors was good for inter-rater agreement and good/very good for intra-rater agreement. CONCLUSIONS: The mean GOSLON score in the Stockholm overall material at age 10 was 2.67. The VWK technique resulted in a greater need of orthognathic surgery than the MIT ( P < .01). The MITmr did not produce better dental arch relationships than MIT at age 5 ( P < .05). The best dental arch relationships were found in the MIT group at 10 years, mean 2.58, which is not significantly different from other centers with excellent outcome except Gothenburg and Vienna.

Dental age comparison in patients born with unilateral cleft lip and palate to a control sample using Demirjian and Willems methods.

Objectives: To determine and compare the differences in dental age (DA) and chronological age (CA) of Demirjian and Willems methods in 9- to 11-year-old Caucasian boys and girls born with non-syndromic unilateral cleft lip and palate (NSUCLP) to an age-matched control group. Analysis of the results is undertaken to determine whether there are differences between gender, groups, and methods. Materials and methods: Dental panoramic tomograph (DPT) of 108 children with NSUCLP aged from 8.79 to 10.99 years (x¯=10.05 ±â€Š 0.36) were compared to 107 control children. Age, gender, and group were blinded during examination. The Demirjian and Willems methods were used by both authors to visually examine the radiographs. Differences between DA and CA were determined with a repeated two-way ANOVA. Results: Inter-examiner reliability was good (ICC ≈ 0.75). For each of the methods used, the mean DA/CA difference was greater in the control group than in the NSUCLP group (P = 0.011). The control group's Demirjian mean DA/CA difference was 1.08 years and Willems mean was 0.46 years, compared to the NSUCLP group's Demirjian mean DA/CA difference 0.83 years and Willems mean 0.22 years. Only the Willems method determined a statistically significant gender difference (P = 0.000). Conclusions: The null hypothesis was rejected. Willem's method as compared to Demirjian's displayed greater accuracy in estimating CA. Both methods overestimated CA but detected DA delay in NSUCLP children compared to the control group. However, the methods were inconsistent in estimating gender CA.

Correlation between the modified Huddart and Bodenham index and the GOSLON yardstick for assessing occlusal characteristics at 5 and 10 years of age in individuals born with unilateral cleft lip and palate.

BACKGROUND: The Great Ormond Street, London and Oslo, Norway (GOSLON) yardstick and the modified Huddart and Bodenham (MHB) index are two indices for evaluating study models to discern the effects of treatment in individuals born with unilateral cleft lip and palate (UCLP). GOSLON is a tool for ranking study models based on their sagittal, vertical, and transversal planes that requires calibration of the examiners. MHB is a tool for scoring the arch constriction between the jaws for each tooth pair, with scores ranging from +1 to -3. AIM: Our study aimed to identify the degree of correlation between the GOSLON and MHB indices and to compare inter- and intra-examiner reliability. MATERIAL: The study scored 107 study models of 76 children aged 5 (n = 50) and 10 (n = 57) years using the MHB and GOSLON indices. RESULTS: We found a very high intra- and inter-examiner reliability (>0.90) for the MHB and the GOSLON indices as well as a moderate to high negative correlation between the two. Among 5-year-olds, the relationship between the MHB and the GOSLON was linear, while among 10-year-olds, GOSLON Groups 2 and 4 occurred most frequently, with a corresponding wide range in MHB. CONCLUSION: Standardization of maxillary arch constriction measurements following CLP treatment would help evaluation of treatment outcome and make comparability between studies possible. We found a moderate to high correlation between GOSLON and MHB. Both indices showed very good intra- and inter-examiner reliability. MHB is a more sensitive system compared to GOSLON, with a greater range of scoring (40 grades) than GOSLON (five categories).

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.

Mutations in interferon regulatory factor 6 (IRF6) account for ∼70% of cases of Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate. In 8 of 45 VWS-affected families lacking a mutation in IRF6, we found coding mutations in grainyhead-like 3 (GRHL3). According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations. In mouse, all embryos lacking Grhl3 exhibited abnormal oral periderm and 17% developed a cleft palate. Analysis of the oral phenotype of double heterozygote (Irf6(+/-);Grhl3(+/-)) murine embryos failed to detect epistasis between the two genes, suggesting that they function in separate but convergent pathways during palatogenesis. Taken together, our data demonstrated that mutations in two genes, IRF6 and GRHL3, can lead to nearly identical phenotypes of orofacial cleft. They supported the hypotheses that both genes are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS.

The prevalence of various dental characteristics in the primary and mixed dentition in patients born with non-syndromic unilateral cleft lip with or without cleft palate.

This retrospective study was carried out on consecutively collected dental casts, x-rays, and photos of 129 Swedish children who had been born with non-syndromic unilateral (U) cleft lip (CL), cleft lip and alveolus (CLA), or cleft lip and palate (CLP). The following dental characteristics were investigated in the primary and permanent dentitions: 1. the presence, eruption, position, and shape of the lateral incisor; 2. the prevalence of rotation and enamel hypoplasia of the permanent central incisor; 3. the occurrence of hypodontia outside the cleft region; and 4. the transition from the primary to the succeeding permanent lateral incisor in the cleft region. Patients with clefts involving the palate (UCLP) exhibited a high frequency of hypodontia. In patients with clefts, which did not include the palate, malformed lateral incisors were a common finding. In the primary and permanent dentition, the lateral incisor had erupted distal to the cleft in 31.8 and 24.8 per cent of the UCLA and UCLP patients, respectively. No significant pattern was seen regarding the transition from the primary to the succeeding permanent lateral incisor (P = 0.15). The central incisor was rotated in 55 per cent of the patients and this positional deviation was particularly frequent in cases where the lateral incisor was missing in the premaxilla (P < 0.05). Hypodontia outside the cleft region was recorded in 15.5 per cent of the patients. Patients with UCLP had more often crossbite than patients with a UCL or a UCLA phenotype (P < 0.001).

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.

The interferon regulatory factor 6 gene (IRF6) has been identified as the major Van der Woude (VWS) syndrome and popliteal pterygium (PPS) syndrome gene with mutations in the majority of the kindreds. We have studied altogether 17 kindreds from Sweden, Finland, Norway, Thailand and Singapore, and report here 10 mutations, six of them previously unseen. In two kindreds, we could document de novo mutations, both of them changing a codon for a glutamine residue to a stop. No mutation could be detected in the four VWS kindreds from Finland, suggesting a founder effect for a mutation in an atypical noncoding position. Our findings demonstrate that several distinct mutations occur in the Swedish population, and confirm the general notion of a broad spectrum of IRF6 mutations underlying the VWS/PPS phenotypes.