AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature

Background: Pathogenic variants in AXIN2 have been associated with tooth agenesis, colon polyps, and colon cancer. Given the rare nature of this phenotype, we set out to collect additional genotypic and phenotypic information. Methods: Data were collected via a structured questionnaire. Sequencing was performed in these patients mostly due to diagnostic purpose. A little more than half of the AXIN2 variant carriers were identified by NGS; other six were family members. Results: Here, we report 13 individuals with a heterozygous AXIN2 pathogenic/likely pathogenic variant who have a variable expression of oligodontia-colorectal cancer syndrome (OMIM 608615) or oligodontia-cancer predisposition syndrome (ORPHA 300576). Three individuals from one family also had cleft palate, which might represent a new clinical feature of AXIN2 phenotype, also given the fact that AXIN2 polymorphisms have been found in association with oral clefting in population studies. AXIN2 has already been added to multigene cancer panel tests; further research should be conducted to determine whether it should be added to cleft lip/palate multigene panels. Conclusion: More clarity about oligodontia-colorectal cancer syndrome, about the variable expression, and associated cancer risks is needed to improve clinical management and to establish guidelines for surveillance. We collected information about the surveillance that was advised, which might support clinical management of these patients.</p

Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?

Abstract Background Prader-Willi syndrome (PWS) is the most common genetic human obesity syndrome and is characterized by hypotonia, endocrine disturbances, hyperphagia, obesity and mild mental retardation. Oral abnormalities, such as decreased salivary flow rates and extreme tooth wear, have also been described. Studies have shown a significant increase in reflux symptoms in individuals with obstuctive sleep apnoea syndrome and increased BMI, both of which are typical findings in PWS. Gastro-oesophageal reflux disease (GORD) has been identified in some individuals with PWS and is a significant intrinsic factor in dental tooth wear. The aim of this study was therefore to estimate the prevalence of GORD in adults and children and to evaluate a possible correlation between GORD and tooth wear in adults with PWS. They were all registered at the TAKO-centre. Results Twenty-nine individuals, 17 adults with a mean age of 32.6 years (range 18–48) and 12 children with a mean age of 8.8 years (range 3–17), agreed to undergo 24-hour oesophageal pH monitoring, and 90% of those enrolled managed to complete the examination. Four children and eleven adults were diagnosed with pathological gastro-oesophageal reflux, which is defined as acid exposure (pH less than 4) more than 3.6 or 4.3 percent of the time, respectively. Manometry performed in the adult group showed a pathologically high lower oesophageal sphincter pressure in four of the five individuals who had normal oesophageal pH values (pH under 4 less than 4.3% of the time). The two groups (reflux and non-reflux) were well balanced according to BMI, genotype, tooth grinding and hyposalivation. However, twice as many individuals in the reflux group as in the non-reflux group reported high consumption of acidic foods and drinks. Increased tooth wear was significantly correlated with GORD in the two groups (reflux n=6 and non-reflux n=6). Conclusions The prevalence of gastro-oesophageal reflux is high in individuals with PWS. Tooth wear was strongly associated with GORD and acidic drinks, and both may be important aetiological factors underlying the extreme tooth wear in this group. Our data suggest a need for routine screening for GORD and dental wear in young individuals with Prader-Willi syndrome

Barriers and factors influencing communication between dental professionals and Child Welfare Services in their everyday work

Background Among various health professionals, general dental professionals (GDPs) screen children frequently, giving them a unique opportunity to act upon suspicion of child maltreatment. The dental team has received considerable attention regarding safeguarding children. Aim The aims of this study were to explore whether GDPs have mutual collaboration and communication with the Child Welfare Services (CWS), and potential barriers for reporting child maltreatment. Design An electronically pre‐coded questionnaire was sent to all GDPs (n = 131) in the Public Dental Health Service (PDHS) in Oslo. Frequency distributions and statistical analysis were carried out by chi‐squared statistics and multivariate logistic regression analysis. Results The response rate was 75%. Ninety per cent of GDPs had received requests from CWS to provide a child's dental chart. General dental professionals reported child maltreatment frequently (71%), but CWS only gave feedback in 55% of the cases. Uncertainty was the most common reason for not reporting and 33% of the GDPs had chosen not to send a report despite suspicion. Using guidelines increased frequency of reporting (OR 3.6). Conclusions Mutual collaboration and communication should be improved in the task of safeguarding children. Uncertainty and lack of guidelines may act as barriers for not reporting to the CWS

Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia—a comparative study

Purpose The relationship between quality of life, psychological distress, and orofacial syndromes in children and adolescents has been reported in several studies. However, little is known about differences in psychological distress and quality of life among adults with different orofacial conditions. Therefore, the aims of this study were to examine and compare these factors among three groups of adults affected by Treacher Collins syndrome (TCS), cherubism, and oligodontia/ectodermal dysplasia (ED). Methods We included 11 individuals with TCS (mean age 46.9, SD 12.9 years), 15 with cherubism (mean age 50.3, SD 16.8 years), and 49 with oligodontia/ED (mean age 30.7, SD 15.6 years). The respondents completed questionnaires related to psychological distress and quality of life. Results The oligodontia/ED group had a significantly higher level of anxiety and worse mental health-related quality of life than both the TCS and cherubism groups. Adults with TCS reported the highest level of depression, and the lowest levels of overall quality of life, well-being, and physical health-related quality of life. The cherubism group displayed the best overall quality of life, well-being, and mental health. Conclusions Psychological distress and quality of life differed in various orofacial conditions. This study provided insight into these aspects that may contribute to improved care. This article is distributed under the terms of the Creative Commons Attribution License which Permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited

Severe tooth wear in Prader-Willi syndrome. A case–control study

<p>Abstract</p> <p>Background</p> <p>Prader-Willi syndrome (PWS) is a rare complex multsystemic genetic disorder characterized by severe neonatal hypotonia, endocrine disturbances, hyperphagia and obesity, mild mental retardation, learning disabilities, facial dysmorphology and oral abnormalities. The purpose of the present study was to explore the prevalence of tooth wear and possible risk factors in individuals with Prader-Willi syndrome.</p> <p>Methods</p> <p>Forty-nine individuals (6-40 years) with PWS and an age- and sex-matched control group were included. Tooth wear was evaluated from dental casts and intraoral photographs and rated by four examiners using the Visual Erosion Dental Examination (VEDE) scoring system and the individual tooth wear index I_A. In accordance with the VEDE scoring system, tooth wear was also evaluated clinically. Whole saliva was collected.</p> <p>Results</p> <p>Mean VEDE score was 1.70 ± 1.44 in the PWS group and 0.46 ± 0.36 in the control group (p < 0.001). Median I_A was 7.50 (2.60-30.70) in the PWS group and 2.60 (0.90-4.70) among controls (p < 0.001). In the PWS group tooth wear correlated significantly with age (VEDE; r = 0.79, p < 0.001, I_A; r = 0.82, p < 0.001) and saliva secretion (VEDE; r = 0.46, p = 0.001, I_A; r = 0.43, p = 0.002). Tooth grinding was also associated with tooth wear in the PWS group, as indicated by the mean VEDE 2.67 ± 1.62 in grinders and 1.14 ± 0.97 in non-grinders (p = 0.001) and median I_A values 25.70 (5.48-68.55) in grinders and 5.70 (1.60-9.10) in non-grinders (p = 0.003). Multivariate linear regression analysis was performed with tooth wear as the dependent variable and PWS (yes/no), age, tooth grinding and saliva secretion as independent variables. PWS (yes/no), age and tooth grinding retained a significant association with tooth wear, VEDE (p < 0.001) and log I_A (p < 0.001). The only factor significantly associated with tooth wear in the control group was age.</p> <p>Conclusions</p> <p>Our study provides evidence that tooth wear, in terms of both erosion and attrition, is a severe problem in Prader-Willi syndrome. There is therefore considerable need for prosthodontic rehabilitation in young adults with PWS.</p

A comparison of the prevalence of dry mouth and other symptoms using two different versions of the Edmonton Symptom Assessment System on an inpatient palliative care unit.

BACKGROUND: Symptom assessment is key to effective symptom management and palliative care for patients with advanced cancer. Symptom prevalence and severity estimates vary widely, possibly dependent on the assessment tool used. Are symptoms specifically asked about or must the patients add them as additional symptoms? This study compared the prevalence and severity of patient-reported symptoms in two different versions of a multi-symptom assessment tool. In one version, three symptoms dry mouth, constipation, sleep problems were among those systematically assessed, while in the other, these symptoms had to be added as an Other problem. METHODS: This retrospective cross-sectional study included adult patients with advanced cancer at an inpatient palliative care unit. Data were collected from two versions of the Edmonton Symptom Assessment System (ESAS): modified (ESAS-m) listed 11 symptoms and revised (ESAS-r) listed 9 and allowed patients to add one Other problem. Seven similar symptoms were listed in both versions. RESULTS: In 2013, 184 patients completed ESAS-m, and in 2017, 156 completed ESAS-r. Prevalence and severity of symptoms listed in both versions did not differ. In ESAS-m, 83% reported dry mouth, 73% constipation, and 71% sleep problems, but on ESAS-r, these symptoms were reported by only 3%, 15% and &lt; 1%, respectively. Although ESAS-r severity scores for these three symptoms were higher than on ESAS-m, differences did not reach statistical significance. CONCLUSION: We identified significant differences in patient symptom reporting based on whether symptoms like dry mouth, obstipation and sleep problems were specifically assessed or had to be added by patients as an Other problem

Experiences of daily life and oral rehabilitation in oligodontia - a qualitative study.

Objective: Quantitative research indicate increased anxiety and poorer mental health related quality of life (QoL) in individuals with oligodontia (congenitally absence of six or more teeth). The aim of this qualitative study was to complement and explore the individuals’ experiences of life and oral rehabilitation, hopefully improving the care for these patients. Material and methods: Twelve participants (6 females, 6 males, aged 21-48) with oligodontia and experiences of comprehensive dental treatments, consented to participate in a semi-structured interview. The questions in the interview guide were based on previous research and clinical experience and included both open (i.e. how is your life?) and specific questions (i.e. do health care personnel know enough about your condition?). The interview transcripts were coded and analysed using a phenomenological method of analysis. The Regional Ethics Committee approved the study. Results: The following themes grew out of the data; “feeling of being different”, “the burden of treatment”, “shared decision-making”, “treatment increases self-esteem” and “use of coping strategies”. Psychological distress and reduced QoL seemed to be related to negative aspects of the themes, which covered unacceptable aesthetics, reduced orofacial function, the long-term process of oral rehabilitation, and negative experiences with healthcare services. The informants used problem focused and emotionally focused strategies to meet these challenges. Finalizing oral rehabilitation and shared decision making were positive aspects of the themes. Conclusion: All themes expressed by the participants were of importance for experienced QoL and psychological distress, and should be acknowledged by health care personnel when planning and performing treatment

Associations between ectodermal dysplasia, psychological distress and quality of life in a group of adults with oligodontia

Objective: The aim of this study was to assess demographics, self-reported signs of ectodermal dysplasia (problems with hair, nails, skin and sweat glands), present teeth, previous dental treatment, psychological distress and QoL in individuals with oligodontia, and to explore the associations between these factors. We also aimed to compare the level of psychological distress and QoL between the study group and normative samples. Methods: Forty-seven individuals with oligodontia registered at a resource centre in Norway were included in the study. The participants completed self-administered questionnaires on demographics, ED signs, dental treatments, psychological distress and QoL (overall, health-related- and oral health-related QoL). Relevant statistics (independent t-test, correlation analysis and hierarchical multiple regressions) were used. Results: Thirty-five participants reported ED signs. Forty-one participants had tooth replacements (nine had removable dentures). Sixteen had ≤10 present teeth, 13 perceived dry mouth and seven were unemployed. Persons with ≤10 present teeth had higher anxiety- and depression-scores than those having >10 present teeth. Unemployment, dry mouth and removable dentures indicated poor health-related- and oral health related QoL. Compared to a normative sample; the study group had significantly poorer mental health (MH)-related QoL, mean (SD); (51.1(8.2) versus 46.8(9.3), p < .001) and more anxiety, mean (SD); (4.5(3.1) versus 6.7(3.6), p < .001). ED signs and treatments were most important for psychological distress and MH related QoL (MCS), whereas demographic parameters were most important for the other QoL measures. Conclusions: The psychological burden of oligodontia is significant, emphasizing the importance of a holistic approach by caregivers

Associations between ectodermal dysplasia, psychological distress and quality of life in a group of adults with oligodontia

Objective: The aim of this study was to assess demographics, self-reported signs of ectodermal dysplasia (problems with hair, nails, skin and sweat glands), present teeth, previous dental treatment, psychological distress and QoL in individuals with oligodontia, and to explore the associations between these factors. We also aimed to compare the level of psychological distress and QoL between the study group and normative samples. Methods: Forty-seven individuals with oligodontia registered at a resource centre in Norway were included in the study. The participants completed self-administered questionnaires on demographics, ED signs, dental treatments, psychological distress and QoL (overall, health-related- and oral health-related QoL). Relevant statistics (independent t-test, correlation analysis and hierarchical multiple regressions) were used. Results: Thirty-five participants reported ED signs. Forty-one participants had tooth replacements (nine had removable dentures). Sixteen had ≤10 present teeth, 13 perceived dry mouth and seven were unemployed. Persons with ≤10 present teeth had higher anxiety- and depression-scores than those having >10 present teeth. Unemployment, dry mouth and removable dentures indicated poor health-related- and oral health related QoL. Compared to a normative sample; the study group had significantly poorer mental health (MH)-related QoL, mean (SD); (51.1(8.2) versus 46.8(9.3), p < .001) and more anxiety, mean (SD); (4.5(3.1) versus 6.7(3.6), p < .001). ED signs and treatments were most important for psychological distress and MH related QoL (MCS), whereas demographic parameters were most important for the other QoL measures. Conclusions: The psychological burden of oligodontia is significant, emphasizing the importance of a holistic approach by caregivers