Kari Storhaug

Temporomandibular Joint Involvement and Dental Occlusion in a Group of Adults with Rheumatoid Arthritis

The temporomandibular joint (TMJ) and dental occlusion were investigated clinically and radiographically in 59 patients aged 23-83 (mean, 58) years with general joint disease. Forty-nine had rheumatoid arthritis (RA), mostly of long duration. The patients were divided into four groups by type of dentition. Radiographic TMJ abnormality was found in about 4 of 5 patients with RA, in both the dentate and the edentulous group. The abnormality was mainly destructive with productive signs, but in the edentulous group erosive and asymmetrical changes occurred more often. Almost complete restriction of the condylar translation and severely restricted mouth opening (less than or equal to 30 mm) rarely occurred, although the translatory motion was restricted in several patients. Many of these had a satisfactory mouth opening (greater than 40 mm). Occlusal changes-various degrees of anterior bite opening-were reported by about one fourth of both the dentate patients and the complete denture wearers. One patient had occlusal contact on the second molars only. Anterior bite opening occurred only in patients with radiographic TMJ abnormality, including 5 of the 6 patients with complete mandibular head destruction.

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‐κB 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. IκBα degradation was strongly impaired in the fetal fibroblasts, suggesting an impaired NF‐κB 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.

Dental characteristics in Williams syndrome: a clinical and radiographic evaluation

Williams syndrome is a rare congenital syndrome with distinctive craniofacial features, cardiovascular abnormalities, and behavior characteristics including mental retardation. The dental abnormalities have received scant attention in previous literature. The aim of this study was to describe dental characteristics in individuals with Williams syndrome. In a group of 41 individuals more than 10 years of age, 40.5% had agenesis of one or more permanent teeth and 11.9% had agenesis of 6 permanent teeth or more. The mesio-distal and labio-lingual dimensions of permanent tooth crowns were measured on 31 dental study casts from individuals older than 12 years. The mesio-distal and labio-lingual dimensions were significantly smaller compared with a reference sample. An analysis of tooth morphology was performed on the same dental study casts revealing altered tooth morphology. A high proportion of maxillary and mandibular incisors was tapered or screwdriver shaped. An evaluation of taurodontism on mandibular permanent molars was performed using a metric crown-body/root ratio. However, most of the molars rated as being taurodontic had short or extremely short total tooth lengths and could thus be rated taurodontic without meeting the classical definition. The results of this study indicate that although there is variation in dental development in individuals with Williams syndrome, agenesis of permanent teeth in combination with aberrations in tooth size and morphology may affect dental esthetics and complicate orthodontic and prosthodontic treatment.

Caries experience in disabled pre-school children

The parents of 436 disabled pre-school children were interviewed about habits and problems relevant to dental health. The children, who represented 10 different disabling conditions, were examined and dmft registered. The purpose was to study the relationship between different background variables and caries experience. The dmft score was analyzed in accordance with several sociocultural, medical, and habitual variables, using a multiple classification analysis (MCA). The number of daily carbohydrate intakes, duration of use of nursing bottle, family income, and diagnosis were the variables with the strongest association with dmft. Children with congenital heart disease, asthma, and cystic fibrosis had a considerably higher adjusted dmft than the other diagnostic groups. The proportion of children with caries experience was higher in the present survey than in groups of Norwegian children of corresponding age.

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.

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.

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

Abstract 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

Abstract 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.

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.

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.