Dental Features of an Irish Patient Cohort with Ectodermal Dysplasia and Resultant Impact on Their Quality of Life A Mixed Methods Study

Abstract

Aims: This study involved two principal aims. Firstly, to investigate and explore children's and parents perception of life with Ectodermal Dysplasia (ED) and resultant impacts on Oral Health Related Quality of Life (OHRQoL). Secondly to record the thoughts of a number of ED patients who have undergone dental treatment as adolescents to obtain their insights into the adolescent phase of living with ED. Methods: The quantitative section involved (N=22) children and their parents and a matched age and gender control group who were asked to complete identical questionnaires. All children and parents were asked to fill the short forms of the Child Perception Questionnaire (CPQ8-10), (CPQ11-14), and the Parental-Caregiver Perception Questionnaire (PPQ). Clinical assessments and examinations for all participants were completed by the main researcher. The descriptive qualitative study involved a structured focus group discussion of a sample of adults affected by Ectodermal Dysplasia who had undergone dental rehabilitations. A topic guide was formulated by experienced clinicians and researchers to cover all related aspects of the condition in a series of open-ended questions. A cross sectional thematic analysis approach was followed in data analysis using MAXQDA software. Results: In the final sample, (72.7%, N= 16) of the children were male in gender and the majority (86.3%, N= 19) were Caucasian in ethnicity. The mean age of children was 12.5 years. The control group had the same demographic data in terms of age and gender apart from the fact that they were all Caucasian. A total of 22 pairs of children and parents and matched controls completed all questionnaires for the age groups, 8-10 and 11-14 years. A Wilcoxon rank test was used to compare the values between participants within each group (P < 0.05). Children with Ectodermal Dysplasia CPQ total scores were higher than their controls for both age groups, which reflected worse (OHRQoL) (CPQ = 40.1 , P= .078, and CPQ = 75.3 , P = .036) respectively. A statistically significant difference was also identified for the oral symptoms, functional limitation and emotional well-being domain scores in the older age group (11-14 years). Parents of the children with ED reported higher scores than parents of healthy children. In addition, the younger ED group parents reported higher scores than their children (8-10 years) in the oral symptoms and functional limitation domains and the differences were statistically significant (P = .04 and P = .04 respectively). In the older age group (11-14 years) the children reported higher scores than their parents, with no statistical difference observed between groups. A Spearman s correlation test reported a weak to very weak relationship between childrens and parents perceptions for both age groups, with no statistically significant correlation reported in any domain. The qualitative study analysis identified four main themes; the meaning of health, challenges of living with ED, impact of ED on Quality of Life (QoL) and managing the impacts of ED. Participants highlighted the life experience of living with ED from childhood to adulthood with emphasis on the emotional and psychosocial challenges experienced by them. Challenges from dental, dermatological and ophthalmological features of the condition had been reported, with greatest impacts reported from the dental features of the condition. All contributors described the requirement for adaptation to the features of the condition by becoming experts in self in order to overcome challenges posed in the absence of formal medical guidance and peer support. The impact of their dental features and subsequent management were the most important aspects for all participants because of their impact of function, appearance and self-esteem. Management of the dental challenges resulted in decreased levels of anxiety and improved their mental health. Long-term multidisciplinary treatment was deemed as being fundamental in the future management of dental, dermatological and ophthalmological features of the condition. Conclusions: Ectodermal Dysplasia had a profound influence in the oral health-related quality of life (OHRQoL) of children and their families. Children as they developed reported higher scores than their parents, however, limited agreement was observed between childrens and parents perceptions in OHRQoL. In addition, ED features had social, emotional, and physical impacts on this population from childhood to adulthood, and adaptation on a number of levels was required. Their dental features had the greatest overall impact on this cohort and it is management by healthcare professionals greatly improved their outlook. This was in contrast to other classic features of ED which were managed in a less cohesive manner.