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Oral symptoms and oral health-related quality of life of individuals with x-linked hypophosphatemia.

ABSTRACT: BACKGROUND:The primary purpose of this study was to collect data on the oral health-related quality of life (OHRQoL) of individuals with x-linked hypophosphatemia (XLH). It was also designed to gather information on the period of diagnosis, oral symptoms, orthodontic therapy, and satisfaction with dental care and the healthcare system. METHODS:A questionnaire was developed to evaluate the OHRQoL consisting of open-ended questions and the standardised German version of the Oral Health Impact Profile-14 (OHIP-14). RESULTS:The questionnaires from 43 participants were analysed, including 32 females (74.41%) and 11 males (25.59%). The mean OHIP-14 total score for the combined genders was 10.30 points (range: 0-37 points). For the combined genders, the mean period of time that elapsed between the first signs of the illness and the diagnosis was 5.52?years (range: 0-49?years). In total, 77.50% of the participants described oral symptoms, such as tooth mineralisation defects (n?=?26), abscess or fistula formation (n?=?21), dysgnathia (n?=?9) and temporomandibular dysfunction (n?=?2). The correlation between the participants' satisfaction with the healthcare system and the OHIP-14 values was weak (-?0.21), and it was not statistically significant (p?=?0.199). CONCLUSIONS:The majority of the study participants reported oral involvement in the context of XLH, especially dental hard tissue mineralisation disorders, abscess formation and fistula formation. Those individuals affected by XLH with oral manifestations exhibited a tendency toward a worse OHRQoL than those without oral symptoms. In Germany, the OHIP-14 scores for these XLH patients were worse than those values that were obtained from the general population.

SUBMITTER: Hanisch M

PROVIDER: S-EPMC6431058 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Oral symptoms and oral health-related quality of life of individuals with x-linked hypophosphatemia.

Hanisch Marcel M Bohner Lauren L Sabandal Martin M I MMI Kleinheinz Johannes J Jung Susanne S

Head & face medicine 20190323 1

<h4>Background</h4>The primary purpose of this study was to collect data on the oral health-related quality of life (OHRQoL) of individuals with x-linked hypophosphatemia (XLH). It was also designed to gather information on the period of diagnosis, oral symptoms, orthodontic therapy, and satisfaction with dental care and the healthcare system.<h4>Methods</h4>A questionnaire was developed to evaluate the OHRQoL consisting of open-ended questions and the standardised German version of the Oral Hea ...[more]

PMID: 30904023

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Project description:OBJECTIVES:To integrate items from two widely used oral health-related quality of life (OHRQoL) questionnaires, the General Oral Health Assessment Index (GOHAI) and the Oral Impacts on Daily Performances (OIDP), as well as culturally-specific items of the Oral Health Impact Profile (OHIP) into a four-dimensional OHRQoL model consisting of Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact. METHODS:Subjects came from an ancillary study of the Dimensions of Oral Health-Related Quality of Life Project (N=267 patients, mean age±SD: 54.0±17.2years, 58% women.) Patients filled in the original 49 items of OHIP and 22 additional OHRQoL items in a cross-sectional study. These additional items consisted of 7 culturally specific OHIP items and 15 GOHAI or OIDP items with unique content not covered in OHIP-49. Before data collection, three experts hypothesized to which of the four OHRQoL dimensions these items belong. Hypotheses were tested in correlation analyses between the 22 items and the four dimension scores that were derived from OHIP-49. RESULTS:Five of the 22 items did not provide sufficient information to which dimension they belong. In 16 of the remaining 17 items, the pattern of correlation coefficients fitted experts' a priori hypotheses. Acceptance of 16 of the 17 hypotheses was interpreted as evidence that additional (not in OHIP-49 contained) OHRQoL items can be assigned to Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact. CONCLUSION:Items of three OHRQoL instruments can be integrated into a dimensional OHRQoL model consisting of Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact. CLINICAL SIGNIFICANCE:Oral Function, Orofacial Pain, Orofacial Appearance, and Psychosocial Impact can serve as a simple and clinically appealing set of oral health-related quality of life (OHRQoL) dimensions and therefore provide an opportunity for simpler, but psychometrically improved OHRQoL measurement in the future.

Project description:X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and deficiency of renal tubular phosphate transport in humans. XLH is caused by the inactivation of mutations within the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene and follows an X-dominant transmission. It has an estimated frequency of 1 case per 20,000, and over 300 distinct pathogenic variations have been reported that result in an excess of fibroblast growth factor 23 (FGF23) in the serum. Increased levels of FGF23 lead to renal phosphate loss, decreased serum 1,25-dihydroxyvitamin D, and increased metabolism of 1,25-dihydoxyvitamin D, resulting in hypophosphatemia. Major clinical manifestations include rickets, bone deformities, and growth retardation that develop during childhood, and osteomalacia-related fractures or pseudo-fractures, degenerative osteoarthritis, enthesopathy, dental anomalies, and hearing loss during adulthood, which can affect quality of life. In addition, fatigue is also a common symptom in patients with XLH, who experience decreased motion, muscle weakness, and pain, contributing to altered quality of life. The clinical and biomedical characteristics of XLH are extensively defined in bone tissue since skeletal deformations and mineralization defects are the most evident effects of high FGF23 and low serum phosphate levels. However, despite the muscular symptoms that XLH causes, very few reports are available on the effects of FGF23 and phosphate in muscle tissue. Given the close relationship between bones and skeletal muscles, studying the effects of FGF23 and phosphate on muscle could provide additional opportunities to understand the interactions between these two important compartments of the body. By describing the current literature on XLH and skeletal muscle dysfunctions, the purpose of this review is to highlight future areas of research that could contribute to a better understanding of XLH muscular disability and its management.

Project description:Several measures of oral health-related quality of life have been developed for children. The most frequently used are the Child Perceptions Questionnaire (CPQ), the Child Oral Impacts on Daily Performances (C-OIDP) and the Child Oral Health Impact Profile (COHIP). The aim of this study was to assess the methodological quality of the development and testing of these three measures.A systematic search strategy was used to identify eligible studies published up to December 2012, using both MEDLINE and Web of Science. Titles and abstracts were read independently by two investigators and full papers retrieved where the inclusion criteria were met. Data were extracted by two teams of two investigators using a piloted protocol. The data were used to describe the development of the measures and their use against existing criteria. The methodological quality and measurement properties of the measures were assessed using standards proposed by the Consensus-based Standards for the Selection of Health Measurement Instruments (COSMIN) group.The search strategy yielded 653 papers, of which 417 were duplicates. Following analysis of the abstracts, 119 papers met the inclusion criteria. The majority of papers reported cross-sectional studies (n?=?117) with three of longitudinal design. Fifteen studies which had used the original version of the measures in their original language were included in the COSMIN analysis. The most frequently used measure was the CPQ. Reliability and construct validity appear to be adequate for all three measures. Children were not fully involved in item generation which may compromise their content validity. Internal consistency was measured using classic test theory with no evidence of modern psychometric techniques being used to test unidimensionality of the measures included in the COSMIN analysis.The three measures evaluated appear to be able to discriminate between groups. CPQ has been most widely tested and several versions are available. COHIP employed a rigorous development strategy but has been tested in fewer populations. C-OIDP is shorter and has been used successfully in epidemiological studies. Further testing using modern psychometric techniques such as item response theory is recommended. Future developments should also focus on the development of measures which can evaluate longitudinal change.

Dataset Information

Oral symptoms and oral health-related quality of life of individuals with x-linked hypophosphatemia.

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Oral symptoms and oral health-related quality of life of individuals with x-linked hypophosphatemia.

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