Background: Disorders of sex development (DSD) may be associated with adverse psychosocial and psychosexual outcomes in adults. However, there is a paucity of information on health-related quality of life outcomes in parents and young children with DSD.
Objective: To evaluate the use of parent-reported outcome (PRO) questionnaires that can be routinely used in the outpatient setting to assess the impact of DSD on parents and children.
Methods: Previously validated DSD-sensitive and generic PRO items were combined to develop a Parent Self-Report questionnaire and a Parent Proxy-Report questionnaire for children under 7 years of age. Questionnaires were completed by parents of 65 children attending DSD and endocrine clinics at one tertiary paediatric hospital in Scotland.
Results: Ninety-four questionnaires were completed. Mothers of children with DSD reported significantly greater 'Future concerns' (median SDS -0.3; IQR -1.0- 0.2) than parents of children with other endocrine conditions (median SDS 1.2; IQR 0.6-1.7), P<0.01. Similarly, fathers of children with DSD report greater 'Future concerns' (median SDS -1.3; IQR -3.10.2) than parents of children with other endocrine conditions (median SDS 0.5; IQR 0.2-0.9), P<0.01. Mothers of children with DSD also reported a greater degree of apprehension when 'Talking to others' about their child's condition (median SDS 0.19, IQR -0.6-1.0 versus median SDS 0.7, IQR 0.04-1.3), P=0.03. There was no significant difference in symptoms of psychological distress, as assessed via the PHQ-4 scale, between parents of children with DSD (median PHQ-4 score median 0; IQR 0.0-2.0) and endocrine conditions (median PHQ-4 score 0; IQR 0.0-2.0), P>0.05. Time to completion of both questionnaires was less than 10 minutes and questionnaire acceptability was 100% amongst parents.
Conclusion: The use of brief PRO tools in parents and young children with DSD is an acceptable practice and can be routinely used in the outpatient setting to assess and monitor parent and patient needs. DSD was associated with greater parental concerns over the child's future than other endocrine conditions and highlights opportunities for targeted intervention.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology