| 1. |
- Arzoo, Pakeeza Shaiq, et al.
(author)
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WNT10A Mutations Account for 1/4 of Population- Based Isolated Oligodontia and Show Phenotypic Correlations
- 2014
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In: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 164:2, s. 353-359
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Journal article (peer-reviewed)abstract
- A large proportion (>50%) of patients with isolated oligodontia were recently reported with WNT10A mutations. We have analyzed a population-based cohort of 102 individuals diagnosed with non-syndromic oligodontia and a mean of 8.2 missing teeth. The cohort included 94 families and screening of WNT10A identified that 26 probands (27.7%) had at least one WNT10A variant. When we included the MSX1, PAX9, AXIN2, EDA, EDAR, and EDARADD genes, 38.3% of probands were positive for a mutation. Biallelic WNT10A mutations were strongly associated with a larger number of missing teeth (11.09) when compared to both monoallelic WNT10 mutations (6.82) and the group without mutations in WNT10A, MSX1, PAX9, AXIN2, EDA, EDAR, or EDARADD (7.77). Genotype-phenotype analysis of individuals with WNT10A mutations showed that premolars were the most common missing teeth. Furthermore, biallelic WNT10A mutations were associated with absence of maxillary and mandibular molars as well as mandibular central incisors. Maxillary central incisors were always present. Thus, our study indicates that WNT10A mutations are associated with both the type and numbers of missing teeth. Furthermore, we show that this population-based cohort of isolated oligodontia had a considerably lower frequency of mutated WNT10A alleles and a lower mean number of missing teeth when compared to patients recruited from dental specialist centers. (c) 2013 Wiley Periodicals, Inc.
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| 2. |
- Bergendal, Birgitta, et al.
(author)
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Isolated Oligodontia Associated With Mutations in EDARADD, AXIN2, MSX1, and PAX9 Genes
- 2011
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In: American Journal of Medical Genetics Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 155:7, s. 1616-1622
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Journal article (peer-reviewed)abstract
- Oligodontia is defined as the congenital lack of six or more permanent teeth, excluding third molars. Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. Here we define the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes, and the novel candidate gene EDARADD in a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia. Mutation screening was performed using denaturing gradient gel electrophoresis and DNA sequence analysis. Analyses of the coding sequences of the six genes showed sequence alterations predicted to be damaging or potentially damaging in ten of 93 probands (10.8%). Mutations were identified in the EDARADD (n = 1), AXIN2 (n = 3), MSX1 (n = 2), and PAX9 (n = 4) genes, respectively. None of the 10 probands with mutations had other self-reported symptoms from ectodermal tissues. The oral parameters were similar when comparing individuals with and without mutations but a family history of oligodontia was three times more frequent for probands with mutations. EDARADD mutations have previously been reported in a few families segregating hypohidrotic ectodermal dysplasia and this is, to our knowledge, the first report of an EDARADD mutation associated with isolated oligodontia.
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| 3. |
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| 4. |
- Faulks, Denise, et al.
(author)
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Using the International Classification of Functioning, Disability and Health (ICF) to describe children referred to special care or paediatric dental services
- 2013
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In: PLOS ONE. - : Public Library of Science. - 1932-6203. ; 8:4
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Journal article (peer-reviewed)abstract
- Children in dentistry are traditionally described in terms of medical diagnosis and prevalence of oral disease. This approach gives little information regarding a child's capacity to maintain oral health or regarding the social determinants of oral health. The biopsychosocial approach, embodied in the International Classification of Functioning, Disability and Health - Child and Youth version (ICF-CY) (WHO), provides a wider picture of a child's real-life experience, but practical tools for the application of this model are lacking. This article describes the preliminary empirical study necessary for development of such a tool - an ICF-CY Core Set for Oral Health. An ICF-CY questionnaire was used to identify the medical, functional, social and environmental context of 218 children and adolescents referred to special care or paediatric dental services in France, Sweden, Argentina and Ireland (mean age 8 years ± 3.6 yrs). International Classification of Disease (ICD-10) diagnoses included disorders of the nervous system (26.1%), Down syndrome (22.0%), mental retardation (17.0%), autistic disorders (16.1%), and dental anxiety alone (11.0%). The most frequently impaired items in the ICF Body functions domain were 'Intellectual functions', 'High-level cognitive functions', and 'Attention functions'. In the Activities and Participation domain, participation restriction was frequently reported for 25 items including 'Handling stress', 'Caring for body parts', 'Looking after one's health' and 'Speaking'. In the Environment domain, facilitating items included 'Support of friends', 'Attitude of friends' and 'Support of immediate family'. One item was reported as an environmental barrier - 'Societal attitudes'. The ICF-CY can be used to highlight common profiles of functioning, activities, participation and environment shared by children in relation to oral health, despite widely differing medical, social and geographical contexts. The results of this empirical study might be used to develop an ICF-CY Core Set for Oral Health - a holistic but practical tool for clinical and epidemiological use.
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| 5. |
- Mac Giolla Phadraig, Caoimhin, et al.
(author)
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Behaviour support in dentistry: A Delphi study to agree terminology in behaviour management
- 2024
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In: Community Dentistry and Oral Epidemiology. - : John Wiley & Sons. - 0301-5661 .- 1600-0528. ; 52:4, s. 550-571
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Journal article (peer-reviewed)abstract
- Objectives: Dental behaviour support (DBS) describes all specific techniques practiced to support patients in their experience of professional oral healthcare. DBS is roughly synonymous with behaviour management, which is an outdated concept. There is no agreed terminology to specify the techniques used to support patients who receive dental care. This lack of specificity may lead to imprecision in describing, understanding, teaching, evaluating and implementing behaviour support techniques in dentistry. Therefore, this e-Delphi study aimed to develop a list of agreed labels and descriptions of DBS techniques used in dentistry and sort them according to underlying principles of behaviour.Methods: Following a registered protocol, a modified e-Delphi study was applied over two rounds with a final consensus meeting. The threshold of consensus was set a priori at 75%. Agreed techniques were then categorized by four coders, according to behavioural learning theory, to sort techniques according to their mechanism of action.Results: The panel (n = 35) agreed on 42 DBS techniques from a total of 63 candidate labels and descriptions. Complete agreement was achieved regarding all labels and descriptions, while agreement was not achieved regarding distinctiveness for 17 techniques. In exploring underlying principles of learning, it became clear that multiple and differing principles may apply depending on the specific context and procedure in which the technique may be applied.Discussion: Experts agreed on what each DBS technique is, what label to use, and their description, but were less likely to agree on what distinguishes one technique from another. All techniques were describable but not comprehensively categorizable according to principles of learning. While objective consistency was not attained, greater clarity and consistency now exists. The resulting list of agreed terminology marks a significant foundation for future efforts towards understanding DBS techniques in research, education and clinical care.
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| 6. |
- Norderyd, Johanna, 1958-
(author)
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Defect root cementum of primary teeth in children with x-linked hypophosphatemia
- 2019
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Conference paper (peer-reviewed)abstract
- Defect root cementum of primary teeth in children with x-linked hypophosphatemiaNorderyd J. National Oral disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden and CHILD research group, Swedish Institute for Disability Research, School of Health and Welfare, Jönköping University, Jönköping, Sweden.Background X-linked hypophosphatemia (XLH) is a rare disorder where low phosphate levels affect the mineralisation of bone and teeth. The main and well-known dental complications are pulpal infections and abscesses attributed to large pulpal chambers and defective dentine. Increased risk for periodontal disease has also been described and recently, defect root cementum was suggested as a likely aetiology behind periodontal attachment loss in adults with XLH (Biosse Duplan et al 2017). However, no reports describing root cementum defects in primary teeth in children with XLH has to this date been published. The National Oral Disability Centre for Rare Disorders in Jönköping, Sweden, receives many consultations about patients where dental complications are part of a rare syndrome and XLH is one of those. Aim The aim of this project was to search the National Oral Disability Centre’s consultations about XLH and retrospectively check for root cementum defects described in histological analyses of extracted primary teeth. Results Ten children with confirmed XLH were identified among the consultations to the centre from different parts of Sweden during 2004 to 2018. Five of these children had had a primary tooth sent for biopsy diagnosis. In one analysis, the oldest, the root cementum is not mentioned. The other four biopsy diagnoses describe teeth with globular dentin, typical for XLH, and they also reveal aplastic and/or hypoplastic root cementum.Conclusions - XLH can be added to the list of diagnoses where hypoplastic root cementum in primary teeth may be part of the syndrome. - In addition to the well-known risk for dental abscesses due to defect dentine, children with XLH may also have an increased risk for early periodontal problems because of dysplastic root cementum. - Preventive measures should focus both on keeping the enamel intact and on periodontal health. - Even when the XLH diagnosis is already medically and/or genetically verified, there is a value for individuals with XLH to have an extracted or lost primary or permanent tooth sent for biopsy diagnoses of dentin as well as root cementum.
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| 7. |
- Norderyd, Johanna, 1958-, et al.
(author)
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Hypoplastic root cementum and premature loss of primary teeth in Coffin–Lowry syndrome : a case report
- 2012
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In: International Journal of Paediatric Dentistry. - 0960-7439 .- 1365-263X. ; 22:2, s. 154-156
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Journal article (peer-reviewed)abstract
- Background. Coffin–Lowry syndrome (CLS) is a rare genetic disorder. The syndrome presents with psychomotor retardation, short stature, skeletal deformations, digit abnormalities, and distinctive facial features. Oral and dental findings in CLS are common and they include thick prominent lips, high palate, midline lingual furrow, hypodontia, microdontia, delayed eruption, and early tooth loss. Only one earlier case suggesting hypoplastic root cementum as cause for primary loss of teeth in CLS has been published.Case Report. This case describes a 3-year-old boy with premature loss of primary incisors without preceding root resorption. In addition to the dental findings, the boy had several general signs and symptoms and the dental findings together with the other characteristics led to the clinical diagnosis of CLS, which later was genetically verified. Histological analysis of an extracted primary incisor showed hypoplastic root cementum.Conclusion. Hypoplastic root cementum may explain early tooth loss in CLS. As early loss of primary teeth is rare, especially when there is no previous root resorption, the individual is likely to seek dental care. Thus, the dentist may play an important role in assisting in the diagnosing of CLS.
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| 8. |
- Norderyd, Johanna, 1958-, et al.
(author)
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Oral health, medical diagnoses, and functioning profiles in children with disabilities receiving paediatric specialist dental care – a study using the ICF-CY
- 2015
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In: Disability and Rehabilitation. - : Taylor & Francis. - 0963-8288 .- 1464-5165. ; 37:16-17, s. 1431-1438
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Journal article (peer-reviewed)abstract
- Purpose: To describe 0-16-year-old children with disabilities receiving paediatric specialist dental care from a biopsychosocial perspective, with focus on relationship between oral health, medical diagnosis, and functioning.Method: A questionnaire with an International Classification of Functioning, Disability and Health - Children and Youth version (ICF-CY) Checklist for Oral Health was completed using structured interview, direct observation, and information from dental records. Descriptive data analysis was performed together with principle component analysis to calculate factors of functioning used in cluster analysis in order to present functioning profiles.Results: Ninety-nine children with at least one major medical diagnosis were included. Twenty had previous caries experience. Two factors of functioning were calculated, labelled "Physical ability" and "Intellectual ability, communication, and behaviour". Based on functioning profiles three clusters were determined. There were no statistically significant differences in caries experience between medical diagnoses or clusters.Conclusion: It was possible to identify profiles of functioning in children with disabilities receiving specialist dental care. Despite complex disabilities, the children had good oral health. Neither medical diagnosis nor functioning was found to have a clear relationship with oral health. To understand the environmental context leading to high-quality oral health, further studies of dental management in relation to medical and oral diagnoses and child functioning are needed.
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| 9. |
- Norderyd, Johanna, 1958-, et al.
(author)
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Special Olympics – tandvårdens bidrag till bättre oral hälsa hos personer med intellektuell funktionsnedsättning
- 2023
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In: Aktuel Nordisk Odontologi. - : Universitetsforlaget. - 1902-3545 .- 2058-7538. ; 48:1, s. 172-185
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Journal article (peer-reviewed)abstract
- Globalt är den orala hälsan hos personer med intellektuell funktionsnedsättning sämre än för hela befolkningen. Munhälsoproblem hos en person med intellektuell funktionsnedsättning kan dessutom medföra större konsekvenser och försämrad livskvalitet. Special Olympics har sedan 1968 samlat över 5,5 miljoner tävlande med intellektuell funktionsnedsättning från hela världen. Sverige har ordnat två evenemang. Special Olympics har ett parallellt hälsoprogram där tandvård (Special Smiles) ingår. Tandvårdsvolontärer erbjuder de tävlande deltagarna en enkel munhälsoundersökning, munhygieninstruktion, information samt rekommendationer om oral hälsa. Förebyggande tandvård för personer med intellektuell funktionsnedsättning behöver individanpassas och tandvården måste samverka med andra verksamheter för att nå alla. Special Olympics, som även bidrar till att öka tandvårdsvolontärernas kompetens, är ett bra exempel på sådant arbete.
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| 10. |
- Peschel, Nicolai, et al.
(author)
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Molecular Pathway-Based Classification of Ectodermal Dysplasias : First Five-Yearly Update
- 2022
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In: Genes. - : MDPI. - 2073-4425. ; 13:12
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Journal article (peer-reviewed)abstract
- To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. For this purpose, we searched the databases PubMed and OMIM for the term “ectodermal dysplasia”, referring mainly to changes in the last 5 years. We also tried to obtain information about those diseases on which the last scientific report appeared more than 15 years ago by contacting the authors of the most recent publication. A group of experts, composed of researchers who attended the 8th International Conference on Ectodermal Dysplasias and additional members of the previous classification panel, reviewed the proposed amendments and agreed on a final table listing all 49 currently known ectodermal dysplasias for which the molecular genetic basis has been clarified, including 15 new entities. A newly reported ectodermal dysplasia, linked to the gene LRP6, is described here in more detail. These ectodermal dysplasias, in the strict sense, should be distinguished from syndromes with features of ectodermal dysplasia that are related to genes extraneous to the currently known pathways involved in ectodermal development. The latter group consists of 34 syndromes which had been placed on the previous list of ectodermal dysplasias, but most if not all of them could actually be classified elsewhere. This update should streamline the classification of ectodermal dysplasias, provide guidance to the correct diagnosis of rare disease entities, and facilitate the identification of individuals who could benefit from novel treatment options.
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