Parents’ perceptions of oral health, general health and dental health care for children with Down syndrome in Sweden

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

Management of oral secretions in neurological disease.

Sialorrhoea is a common and problematic symptom that arises from a range of neurological conditions associated with bulbar or facial muscle dysfunction. Drooling can significantly affect quality of life due to both physical complications such as oral chapping, and psychological complications such as embarrassment and social isolation. Thicker, tenacious oral and pharyngeal secretions may result from the drying management approach to sialorrhoea. The management of sialorrhoea in neurological diseases depends on the underlying pathology and severity of symptoms. Interventions include anticholinergic drugs, salivary gland-targeted radiotherapy, salivary gland botulinum toxin and surgical approaches. The management of thick secretions involves mainly conservative measures such as pineapple juice as a lytic agent, cough assist, saline nebulisers and suctioning or mucolytic drugs like carbocisteine. Despite a current lack of evidence and variable practice, management of sialorrhoea should form a part of the multidisciplinary approach needed for long-term neurological conditions

Molecular pathway-based classification of ectodermal dysplasias: first five-yearly update

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