Information needs and health status in adolescents and young adults with differences of sex development or sex chromosome aneuploidies

Abstract

When and how to provide condition-related information to adolescents and young adults (AYAs) with differences of sex development or sex chromosome aneuploidies (DSDs or SCAs) is largely based on anecdotal experience and lacks informed guidance. For AYAs with a DSD or SCA, having accurate information is critical for attaining optimal adjustment and well-being, participating in decision making related to treatment options, and transitioning successfully to adult health care, yet prior studies have focused exclusively on parental perspectives and not on the views of adolescents themselves. The objective of this study was to describe unmet information needs in AYAs with a DSD or SCA and examine associations with perceived global health. Participants were recruited from specialty clinics at Children's Hospital of Philadelphia (n=20) and Children's Hospital Colorado (n=60). AYAs ages 12-21 years with a DSD or SCA and a parent completed a survey assessing perceived information needs across 20 topics, importance of those topics, and global health using the PROMIS Pediatric Global Health questionnaire (PGH-7). AYAs had diagnoses of Klinefelter syndrome (41%), Turner syndrome (25%), and DSD (26%) and were 16.7 years (SD=2.56) and 44% female. Parent participants were primarily mothers (81%). AYAs perceived that 48.09% of their information needs were unmet (SD=25.18, range: 0-100). Parents perceived that 55.31% of AYAs' information needs were unmet (SD=27.46 range: 5-100). AYAs and parents across conditions reported unmet needs related to information about transition to adult health care, financial support for medical care, and how the condition might affect the AYA's health in the future. While AYA-reported PGH-7 scores were not associated with percentage of AYA unmet information needs, parent-reported PGH-7 scores were (r=-.46, p<.001), such that lower parent-reported global health was associated with higher percentage of AYA unmet information needs. On average, parents and AYAs perceived that half of AYAs' information needs were unmet, and a higher percentage of AYA unmet information needs was associated with lower perceived global health. The frequency of unmet needs in this sample of AYAs reflects an opportunity for improvement in clinical care. Future research is needed to understand how education to children and AYAs unfolds as they mature and to develop strategies to address the information needs of AYAs with a DSD or SCA, promote well-being, and facilitate AYA engagement in their own health care.