Dental care and oral health in Aagenaes syndrome/lymphedema cholestasis syndrome 1.

UNLABELLED: Aagenaes syndrome/lymphedema cholestasis syndrome 1 (LCS1) is a rare genetic disorder characterized by neonatal cholestasis and lymphedema. The aim was to assess dental care and oral health in adults with LCS1. Fifteen (9M, 6F) individuals diagnosed with LCS1, aged 19-59 years participated. The study evaluated salivary secretion rate, dental radiographs, intraoral photos and included a questionnaire. Eight (53%) had regular dental checkups. Three had received subsidized dental care. Seven (47%) had two or more subjective symptoms of xerostomia. Three (20%) had a decreased stimulated salivary secretion rate below 0.7 mL/minute. Seven (47%) had dentin caries. Marginal periodontitis was found in all six patients above 35 years of age, but not before that age. Thirteen (87%) had tooth discoloration, which was extensive in three (20%). CONCLUSION: Several patients with LCS1 have problems with periodontitis and tooth discoloration. Frequent dental checkups are therefore recommended.

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.

Oral health-related quality-of-life and mental health in individuals with chronic obstructive pulmonary disease (COPD).

OBJECTIVES: To investigate the association between oral health, oral health-related quality-of-life (OHRQoL) and mental health-related quality-of-life (QoL) in persons with chronic obstructive pulmonary disease (COPD) with respect to demographic, social and clinical oral health variables. MATERIALS AND METHODS: One hundred participants were included in a cross-sectional study at a hospital in Norway. Data were collected via the Oral Health Impact Profile (OHIP-14), the SF-36v2 Health Survey Mental Component (MCS), other self-reported factors, an interview and a clinical examination. Multiple regression analyses were performed. The Regional Committee for Medical and Health Research Ethics approved the study. RESULTS. Higher education (p < 0.01), being a smoker (p < 0.05) and experience of oral health problems (p < 0.001) were significantly associated with oral health-related quality-of-life (OHRQoL). Furthermore, those with feelings of dry mouth (p < 0.05) and impaired OHRQoL (p < 0.001) experienced more mental health problems. CONCLUSIONS: This study demonstrated that oral health and personal factors are related to mental health-related QoL and OHRQoL in individuals with COPD. This finding shows the need to focus on oral care.

Taurodontism: A minor diagnostic criterion in Laurence-Moon/Bardet-Biedl syndromes.

OBJECTIVE: The objective of the study was to present the prevalence of taurodontism in the permanent dentition in individuals with Laurence-Moon/Bardet-Biedl syndromes (LM/BBS). METHODS AND PARTICIPANTS: Thirty-nine individuals were studied, which comprises the whole population of known LM/BBS patients in Norway. Data were collected retrospectively. Panoramic radiographs (OPG) were evaluated to document taurodontism. RESULTS: Taurodontism was found in 82.9% of the individuals with LM/BBS. The second mandibular molars had the highest (72.3%) prevalence of taurodontism and the first mandibular molars the lowest (58.2%). CONCLUSION: This study suggests that taurodontism should be included as a minor diagnostic criterion for the Laurence-Moon/Bardet-Biedl syndromes (LM/BBS).

Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome.

Although the relationship between Quality of Life (QoL) and obstructive sleep apnea (OSA) has been reported in several studies, little is known about this relationship among individuals affected with Treacher Collins syndrome (TCS). The aim of this study was to examine the associations between obstructive sleep and QoL in TCS patients. Thirty-six individuals with TCS (8-75 years) were invited to participate in expanded medical examinations, including a sleep study, polysomnography, as well as to respond to questionnaires about health related Health-related quality of life (HRQoL). Twenty-three (64 %) responded to the invitation, but four were later excluded due to additional diagnoses or unconfirmed TCS, and four were below 12 years and excluded due to different scoring rules for sleep and respiratory disturbances in young children and adults. The remaining group comprised 15 adults and adolescents with TCS, 5 male (33 %) and 10 female (66 %). The participants were between 12 and 75 years of age (mean 38.6, SD 18.5). Obstructive sleep was found in 87 % of the patients and several sleep apnea parameters, among these wake time after sleep, subjective snoring and mean saturation, were associated with poorer HRQoL. OSA appears to account for reduced HRQoL in adolescents and adults with TCS.

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.

Bilateral multilocular radiolucencies of the mandible are the main feature of cherubism (OMIM #118400), a rare autosomal dominant disorder primarily affecting the jaw. Typically, symmetrical swelling of the lower face is evident from around three years of age and increases until puberty. The underlying radiolucent lesions consist of vascular fibrotic stroma with scattered multinuclear giant cells. By age 30 years the facial contours are often unremarkable. Missing and displaced teeth as well as premature tooth loss are characteristic. Diagnosis rests upon a combination of clinical, radiographic, histological and molecular findings. SH3BP2 is currently the only gene known to be associated with cherubism. This cross-sectional study describes oral manifestations, quality of life and results of mutation analysis of SH3BP2 in 11 females and 13 males ages five to 84 years with cherubism. One individual with molecularly confirmed Noonan syndrome was excluded from the cohort. Standard statistical tools were used to analyze quality of life data. Mutation analysis was positive in all 22 familial and negative in both sporadic cases. Disease manifestations in mutation carriers varied from none to severe. Although intra-familial variability was marked, we found no evidence of non-penetrance, and females were on average more severely affected than males. Dental sequelae were pronounced; adults lacked a mean of 13 teeth (range 2-28), 13 of 17 individuals aged 16 years and older had removable or fixed dentures and five had dental implants; implant survival rate was 79%. In spite of pronounced disease manifestations and dental sequelae, adult quality of life was good.

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

BACKGROUND: 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. METHODS: 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 IA. In accordance with the VEDE scoring system, tooth wear was also evaluated clinically. Whole saliva was collected. RESULTS: 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 IA 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, IA; r = 0.82, p < 0.001) and saliva secretion (VEDE; r = 0.46, p = 0.001, IA; 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 IA 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 IA (p < 0.001). The only factor significantly associated with tooth wear in the control group was age. CONCLUSIONS: 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.

Consensus statement on standard of care for congenital myopathies.

Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee's recommendations for symptom assessments and therapeutic interventions. It is the committee's goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.

Dental implants in patients with Ehlers-Danlos syndrome: a case series study.

Ehlers-Danlos syndrome (EDS) encompasses six types of hereditary connective tissue disorders, with skin hyperextensibility, joint hypermobility, and connective tissue fragility as the main findings. Oral health is also affected, sometimes including periodontitis and tooth loss. This is the first report on dental implant treatment for patients with hypermobility or classic EDS. Five female patients aged 19 to 68 years who tolerated treatment under local anesthesia and did not require bone augmentation were enrolled in the study and received 16 implants. They were observed for 2 to 12 years. No implants were lost, bone loss was minimal, and all patients were pleased with the treatment outcomes.

Salivary flow rate and oral findings in Prader-Willi syndrome: a case-control study.

BACKGROUND. Prader-Willi syndrome (PWS) is a rare complex multisystemic genetic disorder. AIM. The objective of this study was to provide a systematic assessment of whole saliva secretion and oral manifestations associated with PWS. DESIGN. Fifty individuals (5-40 years) with PWS and an age- and sex-matched control group were included. Whole saliva was collected. All participants underwent an anamnestic interview. Radiological and dental clinical examinations were carried out to identify hypodontia, dental caries, enamel defects and gingival inflammation. RESULTS. Mean whole salivary flow rate was 0.12 ± 0.11 mL/min in the study group compared with 0.32 ± 0.20 mL/min in the control group (P < 0.001). Hypodontia was significantly more common in PWS (P < 0.001), and dental caries in the age group >19 years was significantly lower in PWS (P = 0.04) compared with the controls. There was no significant difference in the prevalence of dental caries in the primary dentition or in the frequency of enamel defects in the permanent dentition between the two groups. Median Gingival Index was significantly higher in the Prader-Willi group compared with the controls (P = 0.02). CONCLUSIONS. Low salivary flow is a consistent finding in PWS. Nevertheless, despite dry mouth and dietary challenges, dental caries is not increased in Norwegian individuals with PWS.

Drooling: are botulinum toxin injections into the major salivary glands a good treatment option?

There are several treatment options available for drooling; botulinum toxin injections into the major salivary glands are one. There is no consensus as to how many and which glands should be injected. A research project on this topic was terminated because of adverse effects. Individual results and the adverse effects are described and discussed in this article. Six individuals with cerebral palsy were randomly allocated to 2 treatment groups, with five individuals receiving ultrasound-guided injections to parotid and submandibular glands and one receiving injections to the submandibular glands only. Reduction of observed drooling was registered in 3, while 4 patients reported subjective improvement (Visual Analog Scale). Two participants reported adverse effects, including dysphagia, dysarthria, and increased salivary viscosity. Injections with botulinum toxin can be a useful treatment option but there is a risk of adverse effects. Multidisciplinary evaluation and informed discussions with patients/caregivers are important factors in the decision-making process.

Dental developmental disturbances in 50 individuals with the 22q11.2 deletion syndrome; relation to medical conditions?

OBJECTIVE: The aims of the study were to examine tooth and enamel disturbances in individuals with 22q11.2 deletion syndrome and to analyze associations with medical conditions, birth characteristics and blood values of calcium and PTH. MATERIALS AND METHODS: Fifty individuals participated in the study (27 females, median age 10 years, range 1.5-44). Congenital absence of teeth was studied on orthopantomograms; 1148 teeth were examined, both clinically and radiologically, and enamel hypomineralizations and hypoplasias were recorded. Medical history and findings were recorded as part of a larger study on the manifestations of 22q11.2-deletion syndrome in Norway. RESULTS: Tooth agenesis was observed in 15% of study participants. Sixty-six percent of the participants and 26.0% of teeth presented with enamel disturbances. Of these, 12 individuals (24.0%) and 215 teeth (18.7%) had hypomineralizations and four individuals (8.0%) and 86 teeth (7.5%) had hypoplasias. Seventeen participants (34.0%) presented with both types of disturbance, but rarely in the same tooth. Only two teeth (0.17%) had both types of disturbance. Hypomineralizations were twice as frequent in permanent as in primary teeth. No correlations were found to medical conditions, except that participants with congenital cardiac anomalies presented with fewer total enamel disturbances and hypomineralizations in permanent teeth than those without. CONCLUSIONS: Enamel disturbances were frequently seen. There were more hypomineralizations than hypoplasias. Hypoparathyroidism and/or hypocalcemia are not clear etiological factors for enamel disturbances and there were no major correlations between medical conditions and enamel disturbances.

Orofacial dysfunction in individuals with Prader-Willi syndrome assessed with NOT-S.

OBJECTIVE: The objective of the study was to evaluate orofacial dysfunction in individuals with Prader-Willi syndrome (PWS) and compare it with a healthy reference group. METHODS AND MATERIALS: The Nordic Orofacial Test-Screening (NOT-S) protocol was used for evaluation of orofacial function in 45 (23 Male, 22 Female) individuals with PWS, aged 19.8 ± 9.5 years, and a reference group of 40 (18 M, 22 F) healthy individuals, aged 24.0 ± 16.3 years. RESULTS: The NOT-S score was markedly higher for the individuals with PWS than for the healthy reference group (3.9 ± 2.1 vs 0.3 ± 0.5, p < 0.001). The most common domains of dysfunction in individuals with PWS were Oral motor function (60.0%), Habits (55.6%), Face at rest (53.3%), Speech (44.4%), Drooling (44.4%) and Breathing (42.2%). CONCLUSIONS: Eighty-seven per cent of the participants with PWS demonstrated dysfunction in two or more domains, particularly in the domains Oral motor function, Habits and Face at rest.

Consensus statement on standard of care for congenital muscular dystrophies.

Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.

Oral findings in adults with osteogenesis imperfecta.

This paper describes oral findings in an adult population with osteogenesis imperfecta (OI) in Norway (n=94). All participants underwent a structured interview and an oral examination. Panoramic radiographs were analyzed. The findings were compared with data from other Nordic epidemiological studies. Seventeen individuals (19%) had clinical signs of dentinogenesis imperfecta (DI). Persons with OI had twice as many missing teeth as the general population, and the number of endodontically treated teeth was higher than in the general population. All persons in the study had an acceptable state of tooth tissue loss. Almost all (97%) of the participants in the study group visited a dentist or a dental hygienist regularly. The results of the study indicated a low prevalence of clinical DI compared with previous reported studies. Oral health was not as good in the population with OI when compared with the general population, although daily oral health habits were good and dental visits were regular.

Detection of Hemizygous Chromosomal Copy Number Variants in Williams-Beuren Syndrome (WBS) by Duplex Quantitative PCR Array: An Unusual Type of WBS Genetic Defect.

We have developed a dual probe quantitative PCR (qPCR) mini array enabling a more accurate analysis of the relationship between copy number variants (CNVs) and other genomic features in specific areas. We used it to map hemizygous microdeletion on human chromosome 7 around the elastin gene (ELN), which is the molecular basis of the Williams-Beuren syndrome (WBS). In two WBS patients, the haploid content of the elastin gene was ascertained previously by the fluorescence in-situ hybridization (FISH). Our dual-color qPCR assay used this information to normalize for DNA content in all tests. We mapped the extent of the deleted area using 10 loci spanning over 4 Mb. A border region containing the GTF2I gene, usually deleted in most cases, was found about 10 times amplified in both patients, suggesting an unusual type of the WBS genetic defect. This 10-WBS-loci-specific qPCR assay could be an affirmative diagnostic tool alternative to FISH. Due to low cost, it could be used as a screening test that would not only facilitate research on CNVs, but also allow early diagnosis of the disease, as well-timed diagnosis would benefit WBS children with earlier proper health-care measures.

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.

We report on a family with three stillborn males, three affected males who were small for gestational age and died within 8 months, and one male who died at age 5 years. This boy had cone-shaped teeth and oligoodontia. He had serious bacterial infections and inflammatory bowel disease. Mutations in the NF-kappaB essential modulator (NEMO) gene have recently been shown to be the cause of a group of ectodermal dysplasia and immunodeficiency disorders (EDA-ID). Analysis of the NEMO gene revealed a nucleotide change in the consensus sequence of the splicing donor site of exon 6 IVS6 + 5G --> A(1027 + 5G --> A), which has not previously been described in EDA-ID. RT-PCR analysis of fibroblast RNA from an aborted affected male fetus demonstrated a skipping of exons 4, 5, and 6 which resulted in a truncated protein of about 35 kDa revealed by NEMO antibody. The skipping of exons 4, 5, and 6 did not affect the ORF of the C-terminal of NEMO encoded by exons 7, 8, 9, and 10, which contains a coiled-coil motif (CC2), a leucin-zipper (LZ), and a zinc finger motif (ZF) sub-domains of NEMO. IkappaBalpha degradation was strongly impaired in the fetal fibroblasts, suggesting an impaired NF-kappaB signaling. One healthy carrier had a completely skewed X-inactivation pattern with the normal X active, whereas the two other carriers had a random X-inactivation pattern. This family may represent a new phenotype within the EDA-ID disorders. From the heterogeneity in X-inactivation phenotype, we conclude that this mutation is not deleterious enough to be lethal for peripheral blood cells.

Neurocranial morphology and growth in Williams syndrome.

Williams syndrome (WS) is a rare congenital neurodevelopmental disorder with distinctive facial features, cardiovascular abnormalities, short stature, mental retardation, and behaviour and cognitive characteristics. The aim of this study was to describe the neurocranial morphology and growth in a group of 62 individuals with WS. The neurocranium was analysed on lateral cephalograms and comparisons were made with neurocranial standards from longitudinal data derived from the Oslo University Craniofacial Growth Archive. The size and morphology of the neurocranium in WS subjects differed from controls. Females as a group showed greater differences than males. The posterior cranial base length was shorter in both WS males and females, and the anterior cranial base length was shorter in WS females whereas it was close to normal in the WS male group. The cranial base angle was, however, not different from the control groups. A flattening was seen in the superior aspect of the parietal bone in both WS males and females. In the posterior part of the neurocranium, the prominence of the occipital bone was larger than in the control groups, which was also reflected in a larger total length of the neurocranium. The thickness of the frontal and occipital bones was considerably greater than in the control group. The deviant size and morphology of the neurocranium in WS subjects was already established in the youngest age group and maintained throughout the observation period. The growth pattern of the neurocranium in WS subjects seemed to be similar to that of the control groups, except in a few individuals.