ESPE Abstracts

Background: To aid assessment of parent-reported quality of life outcomes (PRO) in routine clinical setting in young children with a condition affecting sex development, a short questionnaire (PRO-CSD) that includes a parent-proxy report (PPR) and a parent-self-report measure (PSR) has been recently developed and requires further validation.

Methods: Parents of 98 boys with a median age of 2.9 yrs (range, 0.2,6.5) and median external masculinisation score (EMS) of 11 out of a maximum of 12 (4,12) were recruited. Group-construct validity was explored by examining the association of individual items in PRO-CSD with routinely collected variables that included surgical status, age, an integrated measure of multiple deprivation in Scotland (SIMD), EMS, reporting parent (mother vs father) and parental education. All comparisons were adjusted for multiple comparisons. In a subset of 41 parents, test/re-test validity was also assessed by calculating intra-class coefficients (ICC).

Results: On the PSR measure, the parents of boys with an EMS <10.5 were more concerned about the ‘appearance of their child’s genitalia’ compared to those with a score >10.5 (P = 0.01). An association with EMS was also observed in the questions on ‘future social concerns’ (P <0.01), ‘future relationships’ (P <0.01) and ‘stress on receiving the diagnosis’ (P = 0.03). A lower proportion of parents who had completed tertiary education (14/56 (25%)) reported ‘feeling stress fitting their child’s condition into the usual routines’ and 4/56 (7%) reported that the condition affected ‘how often they go out socially’ compared to the non-tertiary educated parents, with 20/42 (48%), P = 0.03 and 11/42 (26%), P = 0.02, respectively. Amongst parents of boys below 2 yrs old, 11/33 (33%) reported ‘feeling stressed managing the child’s behaviour during the clinic visit’ compared to 43/65 (66%) parents of boys older than 2 yrs (P <0.01). No differences were observed in the group comparison according to SIMD, surgery, and whether the reporting parent was a father or mother. No differences were observed when group comparisons were performed for the individual items in the PPR questionnaire. The median ICC for all 28 questions in the PSR and PPR was 0.7 (0.4, 0.9) with only one question in the domain of ‘gender concerns’ having an ICC below 0.5.

Conclusion: The current validation study of the PRO-CSD questionnaire confirms its utility for assessing health-related quality of life outcomes in young boys with any condition affecting sex development. Further studies are required to explore the use of this questionnaire in girls and in other languages.