A standard set of outcome measures for the comprehensive assessment of oral health and occlusion in individuals with osteogenesis imperfecta.

BACKGROUND: Osteogenesis imperfecta (OI) is a group of inherited connective tissue disorders of varying severity characterized by bone fragility. The primary objective of this international multidisciplinary collaboration initiative was to reach a consensus for a standardized set of clinician and patient-reported outcome measures, as well as associated measuring instruments for dental care of individuals with OI, based on the aspects considered important by both experts and patients. This project is a subsequent to the Key4OI project initiated by the Care4BrittleBones foundation which aims to develop a standard set of outcome measures covering a large domain of factors affecting quality of life for people with OI. An international team of experts comprising orthodontists, pediatric dentists, oral and maxillofacial surgeons, and prosthetic dentists used a modified Delphi consensus process to select clinician-reported outcome measures (CROMs) and patient-reported outcome measures (PROMs) to evaluate oral health in individuals with OI. Important domains were identified through a literature review and by professional expertise (both CROMs and PROMs). In three focus groups of individuals with OI, important and relevant issues regarding dental health were identified. The input from the focus groups was used as the basis for the final set of outcome measures: the selected issues were attributed to relevant CROMs and, when appropriate, matched with validated questionnaires to establish the final PROMs which represented best the specific oral health-related concerns of individuals with OI. RESULTS: Consensus was reached on selected CROMs and PROMs for a standard set of outcome measures and measuring instruments of oral health in individuals with OI. CONCLUSIONS: Our project resulted in consensus statements for standardization oral health PROMs and CROMs in individuals with OI. This outcome set can improve the standard of care by incorporating recommendations of professionals involved in dental care of individuals with OI. Further, it can facilitate research and international research co-operation. In addition, the significant contribution of the focus groups highlights the relevance of dental and oral health-related problems of individuals with OI.

Reduced mesiodistal tooth dimension in individuals with osteogenesis imperfecta: a cross-sectional study.

OBJECTIVE: Osteogenesis imperfecta (OI) is a rare, hereditary disease affecting collagen type-1 in connective tissue. Collagen type-1 is a substantial component of dentine, and it is speculated, whether affected dentine could cause altered mesiodistal tooth dimension possibly affecting restorative treatment regimen. Therefore, the aim of the present study was to measure mesiodistal tooth dimensions in individuals with OI and compare them with healthy controls. MATERIALS AND METHODS: Fifty-seven individuals aged 20-77 years with OI type 1-4 were included and 70 control patients aged 11-34 years were drawn from an orthodontic database. Mesiodistal tooth dimensions of all tooth types, except third molars, were measured in mm (two decimals) on digital 3 D-models of the tooth-bearing arches. RESULTS: Multilevel mixed-effects linear regression analysis showed that mesiodistal tooth dimension on average was 0.17 mm (95% CI = (-0.33; -0.01)) reduced for the OI group compared to controls. The analysis revealed variation between tooth types; incisors and first premolars were most affected and molars minimally affected. CONCLUSIONS: The mesiodistal tooth dimension in individuals diagnosed with OI is significantly smaller compared to healthy controls, which should be taken into consideration in the restorative treatment planning of individuals with OI, although the magnitude of the deviation is relatively small. The results on mesiodistal tooth dimensions of the present controls may be used as a standard for comparisons in future studies on tooth dimensions.

Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults.

Osteogenesis imperfecta (OI) is a disease causing bone fragility; however, it potentially affects all organs with a high content of collagen, including ears, teeth, and eyes. The study is cross-sectional and compares non-skeletal characteristics in adults with OI that clinicians should be aware of when caring for patients with OI. INTRODUCTION: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. The skeletal fragility is pronounced; however, OI leads to a number of extra-skeletal symptoms related to the ubiquity of collagen type 1 throughout the human body. The vast majority of knowledge is derived from studies performed in the pediatric population. Thus, we aimed to investigate the nature and prevalence of ophthalmologic, odontologic, and otologic phenotypes in an adult population with OI. METHODS: The study population comprises 85 Danish OI patients (age 44.9 ± 15.9 years). Fifty-eight patients had OI type I, 12 OI type III, and 15 OI type IV according to the classification by Sillence. Audiometric evaluations and dental examinations were performed in 62 and 73 patients, respectively. Ophthalmologic investigations were performed in 64 patients, including measurements of the central corneal thickness. RESULTS: All patients, except two, had corneal thickness below the normal reference value. Patients with OI type I and patients with a quantitative collagen defect had thinner corneas compared to patients with OI type III and other patients with a qualitative collagen defect. One patient in this cohort was diagnosed with and treated for acute glaucoma. Dentinogenesis imperfecta was diagnosed in one fourth of the patients, based on clinical and radiographic findings. This condition was predominately seen in patients with moderate to severe OI. Hearing loss requiring treatment was found in 15 of 62 patients, of whom three were untreated. The most prevalent type of hearing loss (HL) was sensorineural hearing loss, whereas conductive HL was solely seen in patients with OI type III. The patients with the most severe degrees of HL were patients with mild forms of OI. Age was associated with increased HL. CONCLUSION: Although significant health problems outside the skeleton are frequent in adult patients with OI, the patients are not consistently monitored and treated for their symptoms. Clinicians treating adult patients with OI should be aware of non-skeletal health issues and consider including regular interdisciplinary check-ups in the management plan for adult OI patients.

Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia.

AIM: Morphological deviations in the upper cervical spine and craniofacial morphology in patients with X-linked hypohidrotic ectodermal dysplasia (XLHED) were compared to non-syndromic controls. METHODS: All children and adolescents with genetically verified XLHED, registered at the Resource Centres for Oral Health in Rare Diseases, who met the inclusion criteria, were included. The group thus comprised 15 XLHED patients (3 girls and 12 boys, aged 8-16 years, mean 11.2 years). The control group comprised 22 non-syndromic pre-orthodontic children (14 girls and 8 boys aged 9-16 years, mean 11.9 years) with agenesis of one tooth, neutral occlusion and normal craniofacial morphology. The craniofacial and upper spine morphology was analysed on lateral cephalograms by standard methods. Differences between XLHED patients and controls were tested and adjusted for age and gender by multiple regression analyses. RESULTS: Morphological deviations in the upper spine occur significantly more often in XLHED patients compared to controls (60 vs. 9.1%; p < 0.01). The cranial base angle (n-s-ar, p < 0.05), sagittal jaw relationship (ss-n-pg, p < 0.001), maxillary inclination (NSL/NL, p < 0.001) and mandibular inclination (NSL/ML, p < 0.01) were significantly smaller in XLHED patients compared to controls. The mandibular prognathia (s-n-pg) was significantly larger in XLHED patients compared to controls (p < 0.05). CONCLUSIONS: The upper spine and the craniofacial morphology were different in XLHED patients compared to controls. The results of this study may contribute to a further understanding of the craniofacial and spinal phenotypic spectrum in patients with XLHED and thus have implications for diagnosis and treatment planning of these patients.

Temporomandibular disorders and psychosocial status in osteogenesis imperfecta - a cross-sectional study.

BACKGROUND: Osteogenesis Imperfecta (OI) is characterized by a number of deviations in the orofacial region. The aims of the present study were to investigate the occurrence of temporomandibular disorders, to evaluate the psychosocial status, and to assess the dental occlusion in a population of adult OI patients. METHODS: Participants (n = 75) were classified with mild OI, type I (n = 56), or moderate-severe OI, type III and IV (n = 19). OI patients were examined according to the Research Diagnostic Criteria for Temporomandibular Disorders (axis I and II). RESULTS: Temporomandibular disorders and functional limitations in the orofacial region were rare and did not differ between patients with mild and moderate-severe OI (P > 0.050). No significant differences between Graded Chronic Pain Scale grades 0, 1, and 2 were found in mild OI vs. moderate-severe OI (P > 0.160). Few patients (16%) had signs of depression, but close to half (48%) had signs of somatization. Patients with moderate-severe OI had a lower mean number of teeth compared to patients with mild OI (P <  0.050). In general, malocclusions were prevalent, and mandibular overjet and posterior cross-bite were found more often in moderate-severe OI compared with mild (P <  0.050). CONCLUSIONS: Patients with moderate-severe OI had more malocclusions than patients with mild OI. The psychosocial status of OI patients was remarkably healthy considering the severity of this disabling systemic disorder. The bodily pain complaints frequently reported in OI patients were not largely reflected in the orofacial area as painful temporomandibular disorders.

A radiological study on intra- and extra-cranial calcifications in adults with X-linked hypophosphatemia and associations with other mineralizing enthesopathies and childhood medical treatment.

OBJECTIVES: 1) The objective of this study was to explore radiological signs of intracranial and nuchal ligament calcifications in adult patients with X-linked hypophosphatemia (XLH) compared with controls and 2) to correlate signs of cranial calcifications in XLH patients with the presence of other extra-cranial enthesopathies, with the severity of skeletal XLH impact and with medical treatment during childhood. SETTING AND SAMPLE POPULATION: Lateral and postero-anterior cephalograms from 36 adult XLH patients and 49 adult controls and X-rays from spine, pelvis, knees and ankles from 31 of the 36 XLH patients. METHODS: Radiological signs of intracranial and nuchal ligament calcifications in XLH patients were compared with controls by Fischer's exact test. In XLH patients, the presence of cranial calcifications was correlated with the presence of other enthesopathies, with the severity of skeletal XLH impact and with medical treatment by Fischer's exact or chi-squared test. RESULTS: Six (17%) XLH patients revealed major signs of intracranial calcifications. Nuchal ligament calcifications were common in XLH patients compared with controls (p = 0.018). Enthesopathy was present at 0-24 sites per XLH patient (median 2). Intracranial calcifications trended to correlate positively with vertebral enthesopathies (p = 0.059). Nuchal calcifications correlated positively with the severity of skeletal XLH impact (p = 0.040). Vertebral enthesopathies correlated negatively with medical treatment (p = 0.008). CONCLUSION: More XLH patients than controls showed nuchal ligament calcifications, and some XLH patients showed intracranial calcifications. Severely affected XLH patients often had nuchal ligament calcifications. Medically treated XLH patients had few vertebral enthesopathies.

Morphological characteristics of frontal sinus and nasal bone focusing on bone resorption and apposition in hypophosphatemic rickets.

OBJECTIVES: To characterize the size and the morphology of the frontal sinus (i.e., structure evolved by bone resorption) and the nasal bone (i.e., structure evolved by bone formation) in adults with hypophosphatemic rickets (HR) compared with controls. SETTING AND SAMPLE POPULATION: Thirty-six patients with HR (12 males and 24 females) aged 21-74 years were included. The control group comprised 49 healthy individuals (23 males and 26 females) aged 20-79 years. MATERIAL AND METHODS: Profile cephalograms were obtained and the following measurements were included: height and width of the frontal sinus; length, width, and area of the nasal bone. The morphology of the nasal bone was assessed. Linear regression analyses were used to compare HR patients with controls. RESULTS: In HR patients, the size of the frontal sinus was unaffected (p = 0.406 to p = 0.862). The proximal width of the nasal bone, and the ratio between the proximal width and the axial length of the nasal bone were increased in HR patients (p < 0.05). CONCLUSIONS: The size of the frontal sinus was unaffected, indicating a normal ability of bone resorption within the bone. The morphology of the nasal bone was abnormal indicating a disturbance in bone formation during growth. The disturbances in nasal bone modeling were mainly expressed in the proximal part supported by structures of cartilaginous origin.

Periapical and endodontic status of permanent teeth in patients with hypophosphatemic rickets.

Hypophosphatemic rickets (HR) is a rare hereditary disease in which dental problems in terms of spontaneous periapical infections are frequently reported. Most previous reports have been based on a small number of HR patients and have been published before the disease could be confirmed genetically. The aim of the present study was to describe the periapical and endodontic status of permanent teeth in patients with genetically and/or biochemically confirmed HR. The patients were recruited from a medical study on HR patients. The patients underwent a dental examination including a digital panoramic radiograph, which was scored for endodontically affected teeth (i.e. teeth with periapical radiolucencies and/or endodontically treated teeth). A total of 52 patients (age range: 5·7-74·5 years; 17 males and 35 females) were included. HR patients were characterised by a high number of endodontically affected teeth (mean: 4·2; s.d.: 5·0). The number of affected teeth rose significantly with age (P < 0·01), and no statistically significant gender difference was found. The relative distribution of endodontically affected teeth in the three tooth groups (incisors and canines, premolars, and molars) varied according to age. In the youngest age group, only incisors and canines were affected, while the relative proportion of affected premolars and molars increased with age. Endodontically affected teeth are common in HR patients, and the number of affected teeth increased significantly with age. Hence, the need for endodontic treatment among HR patients is comprehensive.

Soft-tissue and dentoskeletal profile changes associated with mandibular setback osteotomy.

The aims of the present retrospective cephalometry study were (1) to describe the interrelationships of the soft-tissue and dentoskeletal profiles after total mandibular setback osteotomies and (2) to detect whether there were any cephalometric variables that could contribute to an accurate prediction of the surgical effect on the soft-tissue profile. The presurgical and postsurgical lateral cephalograms of 50 consecutively treated patients (37 females and 13 males) were used; these patients had received combined orthodontic-surgical management of mandibular prognathism by means of a bilateral vertical ramus osteotomy with an extraoral approach. At the time of surgery, their ages ranged from 17 to 41 years. Lateral cephalograms with the teeth in habitual occlusion taken before and approximately 1 year after surgery were available for all patients. A computerized cephalometric appraisal, named profile analysis, was developed and used, including variables corresponding to sagittal and vertical relationships of skeletal and soft-tissue profiles, incisal relationships, soft-tissue thickness, and lip morphology. The statistical elaboration of the data was made by means of paired t test, Pearson's product-moment coefficient correlation, and multiple regression analyses. The assessment of the results disclosed that considerable facial changes and improvement took place after the surgical procedure. The skeletal and soft-tissue facial profiles were straightened and the posture of the lips was improved. The normal incisal relationship achieved became influential on the soft tissues overlying both incisors and led to a better lip competence and posture. Posterior movement at points B and Po was accompanied by reductions ranging from 91% to 103% of the corresponding soft tissues. The presence of both significant correlation coefficients (p less than 0.05) and high r square values (greater than 0.70) in the multiple regression analysis for the osseous tissue variables N-B and N-Po, alone or together with the overjet and S-N-B angle, respectively, reflected their high prediction value with regard to the sagittal relationship of the lower lip, its thickness, and the soft-tissue thickness at the chin area. The findings of Pearson's product-moment coefficient correlation also indicated that the operative changes of the thickness of the upper lip, the lower lip, and the soft tissue at the chin region are influenced by the initial preoperative thickness of the area.

[Soft tissue and dentoskeletal profile changes associated with mandibular advancement osteotomy]. / Metaboles tou prophil ton malthakon iston kai tes odontoskeletikes perioches meta apo osteotomia gia diorthose opisthognathismou tes kato gnathou.

The aims of the present cephalometric study were to describe the profile interrelationships between soft and dentoskeletal tissues following mandibular advancement osteotomies, and to detect, if there were any cephalometric variables, that could contribute to an accurate prediction of the surgical effect on the profile. The presurgical and postsurgical lateral cephalograms of 14 consecutive patients (ten females and four males) who received combined orthodontic-surgical management of their mandibular retrognathism by means of a bilateral sagittal split osteotomy, and whose age at the time of surgery ranged from 16 to 41 years, were used. Lateral cephalograms with the teeth in centric occlusion taken before operation and one year after surgery were available for all patients. A computerized cephalometric appraisal was used, including variables corresponding to the sagittal and vertical relationships of skeletal and soft tissue profile, incisal relationships, soft tissue thickness and lip morphology. The statistical elaboration of the data was made by means of paired t-test, Pearson's product-moment coefficient of correlation and multiple regression analyses. Assessment of the results revealed that considerable facial changes and improvement took place following both operations. The skeletal and soft tissue facial profile was straightened and the posture of the lower lip was improved. Anterior movement at points B and Po was accompanied by changes at the corresponding soft tissue landmarks ranging from 59 to 122 percent. The changes of soft tissue pogonion, inferior labial sulcus and labrale inferius were found to correspond with 104, 122 and 75 percent of the movement of the skeletal landmark pogonion, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)