Oral health-related quality of life in children with osteogenesis imperfecta.

PURPOSE: Osteogenesis imperfecta (OI) results from mutations in the genes involved in the modification or biosynthesis of collagen. This study aimed to assess the oral health-related quality of life (OHRQoL) in children with OI. METHODOLOGY: Participants were recruited from a highly specialised OI centre for children. The Child Oral-Health Impact Profile-Short Form (COHIP-SF) was used, adding demographic and qualitative questions. Children aged 8-16 years participated between January and October 2019. Statistical analysis was carried out. A higher COHIP-SF score indicates better OHRQoL (maximum score, 76). RESULTS: One hundred and six (106) children participated (44 female, mean age 11.93 years). COHIP-SF median score was 59. Children reporting mild OI (n = 55) had higher median scores (62) compared to severe OI (n = 7) with median scores of 55 (P = 0.087). When comparing mixed (< 12 years, n = 46) and permanent dentition (≥ 12, n = 60), no significant difference in OHRQoL was seen (P = 0.977). There was no significant difference between severities for each COHIP-SF domain. Limited data on the presence of dentinogenesis imperfecta did not impact overall score (P = 0.109), but was significant in the oral-health domain (P = 0.033). QUALITATIVE: Common themes were the need for braces, discolouration, pain and function. CONCLUSION: This study confirmed that children with OI have dental concerns in areas including oral health, functional well-being and socio-emotional well-being. This was related to severity of OI.

Availability of less invasive prenatal, perinatal and paediatric autopsy will improve uptake rates: a mixed-methods study with bereaved parents.

OBJECTIVE: To investigate whether less invasive methods of autopsy would be acceptable to bereaved parents and likely to increase uptake. DESIGN: Mixed methods study. SETTING: Bereaved parents recruited prospectively across seven hospitals in England and retrospectively through four parent support organisations. SAMPLE: Eight hundred and fifty-nine surveys and 20 interviews with bereaved parents. METHODS: Cross-sectional survey and qualitative semi-structured telephone interviews. MAIN OUTCOME MEASURES: Likely uptake, preferences, factors impacting decision-making, views on different autopsy methods. RESULTS: Overall, 90.5% of participants indicated that they would consent to some form of less invasive autopsy [either minimally invasive autopsy (MIA), non-invasive autopsy (NIA) or both]; 53.8% would consent to standard autopsy, 74.3% to MIA and 77.3% to NIA. Regarding parental preferences, 45.5% preferred MIA, 30.8% preferred NIA and 14.3% preferred standard autopsy. Participants who indicated they would decline standard autopsy but would consent to a less invasive option were significantly more likely to have a lower educational level (odds ratio 0.49; 95% CI 0.35-0.70; P = 0.000062). Qualitative findings suggest that parents value NIA because of the lack of any incision and MIA is considered a good compromise as it enables tissue sampling while easing the parental burden associated with consenting to standard autopsy. CONCLUSION: Less invasive methods of autopsy are acceptable alternatives for bereaved parents, and if offered, are likely to increase uptake and improve parental experience. Further health economic, validation and implementation studies are now required to assess the viability of offering these in routine widespread clinical care. TWEETABLE ABSTRACT: Mixed methods UK study finds less invasive methods of autopsy are acceptable alternatives for bereaved parents, and if offered, are likely to increase uptake and improve parental experience.