When Small Children Face Big Medical Decisions

Faculty Contact: David Sandberg, Ph.D.

Disorders of Sex Development (DSD) is a superordinate term encompassing congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical (estimated at 0.1% -- 0.5% of live births). When a child with DSD is born, stressors for parents include the need to: gather complex and highly technical medical information; cope with frequently drawn-out diagnostic testing; make decisions about gender assignment, anticipate reconstructive genital surgery, and manage the strains on marital, family and other social relationships. It is in this context, while many parents are experiencing depressed mood and anxiety, and the usual social supports are perceived as inaccessible, that parents are called upon to make decisions having permanent and pervasive developmental consequences for the child. Therefore, the consensus statement on the management of DSD calls for care to be delivered by a multidisciplinary team of specialists that emphasizes dependable communication with parents of young children and encourages family participation in decision-making.  However, evidence-based tools to support the delivery of family-centered care and facilitate shared-decision making are, as yet, unavailable.

This proposal delivers a decision support tool (DST) to prepare parents to become fully involved in management decisions and could be an exemplar for other DSTs, especially related to rare diseases. This proposal promotes PCORI goals by assisting parents to better understand the biological basis of DSD and the importance of their family and cultural preferences in shaping treatment decisions.

Specific aims: 
  • Aim 1: Establish a reproducible framework for collaborations among pediatric specialists, the medical home and patient stakeholders in the development of a DST.
  • Aim 2: Deliver a DST that enhances parents’ understanding of the origins of DSD and its comprehensive evaluation – including genetic testing, and medical/surgical management approaches; informs parents where decision-points exist; outlines all viable treatment options with potential risks and benefits  – including gender assignment, genital reconstruction, and preferences regarding disclosure of incidental genetic findings. 
  • Aim 3: Assess the ways in which the DST results influence parent (a) decision making regarding clinical management and (b) satisfaction with decision-making processes.
Research topic & methods: 
The project will use a mixed-methods approach and will proceed in four phases : (1) DST Development; (2) Assess Usual Care; (3) Incorporate DST into Practice at three U.S. sites (University of Michigan, UCLA, and Seattle’s Children Hospital) and (4) Analysis of Parent-Provider Communications.
Funding information:
This project is funded by PCORI#1360.


For more information, please contact:
David Sandberg, Ph.D.
Child Health Evaluation & Research (CHEAR) Unit
University of Michigan, Division of General Pediatrics
300 N. Ingalls St.
Ann Arbor, MI 48109-5456
Telephone: 734-615-1958; Fax: 734-264-2599
Email: dsandber[at]med.umich[dot]edu