Health-Related Quality of Life: A Pediatric Clinical and Research Tool

This project is now completed.

Background:
Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. The birth of a child with a DSD can create a crisis for the newborn's family and health care providers. Decisions about gender assignment, genital surgeries, and strategies to minimize stigma often are made quickly and under pressure. Clinical management of patients with DSD, based primarily on studies of biological influences on psychosexual development, has become controversial. Recent anecdotal reports of harm to patients and calls for immediate changes in the model of care appear to be influencing practice; however, there are no measurement tools to evaluate the effects of these changes on patients' (or families') quality of life. Health-related quality of life (HRQoL) measures are well-suited to address this problem because they address the effects of a condition and its treatment on subjectively-experienced physical, social, and emotional functioning of the individual and family.

Objectives:

1. Develop HRQoL measures sensitive to the issues and challenges of DSD during the formative developmental stages of infancy and early childhood.
2. Develop validated parent-proxy report and parent self-report HRQoL questionnaires that focus on issues specific to, and shared by young patients with DSDs and their families, which are not otherwise covered by generic HRQoL measures.
3. Through the availability of these questionnaires, help health care providers improve the care and treatment of patients with DSD and their families. Specifically:
   1. identify specific areas of patient and family need; 
   2. measure the effects of medical and surgical interventions on patient/family functioning;
   3. provide empirical evidence to guide clinical management;
   4. address gaps in understanding of the psychosocial and psychosexuall development in patients with DSD
4. Obtain information regarding the child's HRQoL from care providers outside of the home, e.g. teachers.

Research Topics & Methods:

1. Families meeting the eligibility criteria will be identified via chart review after permission has been obtained from the IRBs at 12 U.S. Medical centers.
2. After providing informed consent, parents will be asked to complete the parent proxy HRQoL measure and the parent/caregiver self-report version, along with a number of additional questionnaires. Questionnaires are completed online via a password-protected website.
3. For those children attending daycare, preschool, or kindergarten, parents are asked to provide a release of information to, and contact information for, the teacher/provider.
4. Teachers/providers will then be contacted and, after reviewing and signing the informed consent, will be asked to complete the Teacher/Daycare Provider version of the Parent/Caregiver HRQoL questionnaire and return them by business-reply envelope.
5. Review of medical and surgical charts will be conducted at each site for the children of participating families to characterize their medical/health status.

Data collection for this project is complete and questionnaire construction (including assessment of reliability of validity) is ongoing.

Funder:
This project is funded by the NIH R01 HD053637.