The oral cavity is lined with epithelium derived from the ectoderm. The development of structures derived from this cell layer is similar to the development of extra-oral structures derived from epithelium. Tooth development is extensively studied in mammals and represents a common pattern for the development of ectodermal placodes deployed in diverse types of epithelium organogenesis, such as salivary glands, mammary glands, sweat glands, limb buds, and more [1]. 

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 DBS is roughly synonymous with behaviour management, which is an outdated concept.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.

A visit to the dental clinic may be challenging for a child with Downs syndrome due to medical and oral health problems as well as communication problems.

Aim: The aim of the present study was to explore how parents of children with Down syndrome describe their child’s needs in the dental health care setting.

Method: In a online survey concerning parental experiences with dental health care in Sweden, free comments were analysed with content analysis. By answering the survey, parents consented to participate. Ethical approval was obtained by from the Regional Ethics Committee for Human Research at Linköping University, Sweden.

Result: The analyse resulted in five categories: “Need for continuity of care in dental health care”; “Need for dental health care professionals to have knowledge and expertise in caring for children with Down syndrome and other disabilities”; “Need for dental health care professionals to use a caring approach with children with Down syndrome”; “Need for the child with Down syndrome to be prepared to participate in their dental health care visit” “Need for the child with Down syndrome to be given the same rights as typically developing children”.

Conclusion: To support children with Down syndrome in an optimal way, dental health care needs to be tailored to meet the child’s unique needs. When visiting dental health care services, children with Downs syndrome need continuity, and they need to meet professionals who have a caring approach and knowledge and experience of children with Down syndrome.

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.

A visit to the dental clinic may be challenging for a child with Down syndrome due to medical and oral health problems as well as communication problems. The aim of the present study was to explore how parents of children with Down syndrome describe their child's needs in the dental health care setting. In a survey concerning parental experiences with dental health care in Sweden, free comments were analysed with content analysis and resulted in five categories: "Need for continuity of care in dental health care"; "Need for dental health care professionals to have knowledge and expertise in caring for children with Down syndrome and other disabilities"; "Need for dental health care professionals to use a caring approach with children with Down syndrome"; "Need for the child with Down syndrome to be prepared to participate in their dental health care visit" and "Need for the child with Down syndrome to be given the same rights as typically developing children". To support children with Down syndrome in an optimal way, dental health care needs to be tailored to meet the child's unique needs. In addition, dental health care professionals need knowledge of and expertise in the care of children with Down syndrome.

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.

AIM: To describe parental perceptions of general health, oral health and received dental health care in Swedish children with Down syndrome (DS).

METHODS: Online questionnaire, quantitative data analysis (Chi-square test).

RESULTS: Parents of 101 children with DS (52 boys, 49 girls, mean age: 9.6 years) participated. Seventy percent rated their child's general health and 74% their child's oral health as good or very good. Parents, who rated their child's oral health as poor (8%), also reported that dental procedures were difficult. Children received dental care at general (55%) and specialist clinics (53%). Ninety-four percent of parents of children receiving specialist dental health care were satisfied compared to 70% of parents with children in general clinics. The parents most valued characteristics of dental professionals were patience (63%) and their ability to engage the child (68%). Parents wanted multidisciplinary collaboration.

CONCLUSION: Most parents rated their child's general and oral health as good or very good. Children with poor oral health were also reported to have difficulties coping with dental procedures. Parents wanted dental care to be tailored to meet their child's unique needs. They wanted dental professionals to have knowledge about children with a need for special care. Lastly, they requested multidisciplinary collaboration.

Background

The UN Convention on the Rights of the Child gives all children right to the highest standard of services for treatment and rehabilitation. For children with disabilities, sedation and general anaesthesia (GA) are often indicated for dental treatment; however, accessibility to this varies. The International Classification of Functioning, Disability and Health – Child and Youth version (ICF-CY) enables a biopsychosocial description of children undergoing dental treatment.

Aim

To investigate conscious sedation and GA in children with complex disabilities and manifest caries and analyse how caries, child functioning, and dental service organisation relate to dental GA (DGA), comparing Argentina, France, and Sweden using the ICF-CY.

Design

Quantitative, cross-sectional; data collected through structured interviews, observation, and dental records.

Results

Sedation and DGA were common. Children with limitations in interpersonal interactions and relationships were more likely to have had DGA (OR: 5.3, P = 0.015). Level of caries experience was strongly correlated with experience of DGA. There were significant differences between countries regarding caries prevalence, sedation, DGA, and functional and environmental factors.

Conclusions

Although caries experience and child functioning are important, dental health service organisation had the most impact on the incidence of DGA, and for the use of conscious sedation, for children with complex disabilities.

Introduction: Maintaining good oral health may be more important for children with disabilities than others, since problems with oral health may increase the impact of a disability, or the medical condition may increase the risk for poor oral health. In addition, the risk for oral health problems may be influenced by the functioning of the child. Functioning can also affect the child’s ability to cooperate in the dental setting, and how dental treatment is performed. A medical diagnosis alone does not provide enough information about a child’s functioning, nor oral health. Thus, there is a need for a holistic perspective of oral health and dental health care in children with disabilities. The International Classification of Functioning, Disability and Health - Children and Youth (ICF-CY) enables a structured assessment of the biopsychosocial consequences of a health condition.

Aim: The overall aim of this thesis was to investigate how biopsychosocial factors relate to oral health and specialist dental health care in children with disabilities in a Swedish, and an international context, with special focus on the experience of dental treatment under general anaesthesia (DGA).

Material and methods: The research was conducted using a quantitative, cross-sectional, comparative and descriptive design. An ICF-CY Checklist for Oral Health was completed with data from a structured interview with children 0-16 years old, referred for specialist dental health care, and their parents/carers. Additional information was retrieved from dental and medical records. Three groups were included in data analyses: one large international group of 218 children from Argentina, France, Ireland and Sweden; one large Swedish group with 99 children with complex disabilities; and one international group of children with disabilities and manifest dental caries from Argentina, France and Sweden.

Results: The ICF-CY Checklist for Oral Health identified both common and varying functional, social and environmental aspects relevant for oral health and oral health care in children who had been referred to specialist dental clinics in four countries. Swedish children with caries experience had been referred to a paediatric dental specialist clinic at a significantly older age than caries-free children. The medical diagnoses were not significantly related to dental caries or child functioning in the large Swedish group with complex disabilities and low caries prevalence, nor was there a significant relationship between dental caries and child functioning. Collinearity between dental caries and problems in the functioning factor ’Interpersonal interactions andrelationships’ was observed in the international group of children with disabilities and manifest dental caries. DGA sessions with combined medical and dental treatment were common in the large Swedish study group. Children with experience of DGA had more severe problems in intellectual functions than those without experience of DGA. Problems in interpersonal interactions and relationships increased, while problems with mobility decreased, the likelihood for children having had experience of DGA. On international group level, dmft/DMFT was significantly higher in children with the experience of DGA than in those without DGA experience, but looking at Argentina, France and Sweden separately, this was not true for the Swedish children. There were significant, international differences between the prevalence of dmft/DMFT, DGA and environmental barriers.

Conclusion: The biopsychosocial perspective, operationalised by the ICF-CY, contributes a holistic view on oral health and specialist dental health care in children with disabilities. In addition to certain differences, children with different health status from different countries share many functional and environmental aspects, important for oral health and dental health care. Early referral to a paediatric specialist dental clinic seemed favourable for oral health. The medical diagnosis was not related to child functioning or dental caries. Child functioning had a significant impact on DGA, and in children with disabilities and manifest dental caries, child functioning also had a correlation with caries. The dental caries burden was a stronger factor than functioning for the experience of DGA, however, dental health organisation and country context seemed to matter the most. Combining dental and medical procedures during the same GA session is good use of resources for both the individual and the society. To ensure children with complex disabilities to have the possibility of achieving equivalent good oral health as other children, DGA is one important factor.

Singleton-Merten syndrome (MIM 182250) is an autosomal dominant inherited disorder characterized by early onset periodontitis, root resorption, osteopenia, osteoporosis, and aortic valve or thoracic aorta calcification. The disorder can have significant intrafamilial phenotypic variability. Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G>A p.(Arg822Gln), in IFIH1 (interferon induced with helicase C domain 1), encoding MDA5 (Melanoma Differentiation-Associated protein 5). These data confirm the pathogenicity of IFIH1 c.2465G>A p.(Arg822Gln) for Singleton-Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder. In addition, we expand the Singleton-Merten phenotype by adding severe systemic lupus erythematosus (SLE) to the clinical picture. Investigations of known SLE genes as well as a single nucleotide polymorphism suggested to be involved in development of SLE were normal.