Decision Support for Parents Receiving Information About Child's Rare Disease (DSD DST)

The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g., should there be surgery? what kind? when?) are not obvious. While there have been large advances in diagnostic assessments like genetic and endocrine testing, the tests do not always show what caused the DSD. And, even when the tests do reveal an explanation for the DSD, knowing what happened genetically or hormonally does not usually lead to a single "correct" treatment plan. Instead, it is likely that there are different acceptable treatment options - and parents will need to make decisions based, in part, on their personal preferences, values, and cultural background. Adding more stress to the situation is knowledge that many of the decisions that need to be made by parents early in a child's life are irreversible and exert life-long consequences for the child and the family.

To support parents becoming actively involved in making such decisions, and to reduce the likelihood of future worry and regret about decisions that have been made, the investigators will create a decision support tool (DST). The DST will help educate families about typical and atypical sex development of the body, the process by which DSD are diagnosed (especially how to interpret genetic test results), and possible relationships between diagnostic/genetic testing, decisions about care, and known consequences of those decisions on their child and entire family. The DST will be used by parents of young children together with their child's health care provider.

The investigators will bring together a network of researchers, health care providers, representatives of patient support and advocacy organizations, and parents of children with DSD to share their experiences. Participants of this network will be involved at each stage of creating the DST, revising it, and putting it into practice. At the end of this project, the investigators will have a fully formed DST that will be available for parents to use with their child's healthcare team as they are first learning their child may have a DSD.

Study Overview

• Status: Completed
• Conditions: Congenital Adrenal Hyperplasia; Hypospadias; Disorder of Sex Development; Intersex Conditions

• Study Type: Observational
• Enrollment (Actual): 63

Contacts and Locations

Study Locations

• United States
  • California
    • Los Angeles, California, United States, 90095
      • University of California Los Angeles
  • Michigan
    • Ann Arbor, Michigan, United States, 48104
      • University of Michigan
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19122
      • Temple University
  • Washington
    • Seattle, Washington, United States, 98105
      • Seattle Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

DSD

Description

Inclusion Criteria:

• Must be a parent/caregiver of a patient who is newborn through 5 years old (i.e., 5.9 yrs).
• Patient clinical diagnosis of ambiguous genitalia (eg, 46,XX,Prader 2+; proximal hypospadias with uni/bilateral undescended testes) or sex chromosomes discordant with genital phenotype.
• Condition must be newly ascertained where decisions regarding surgical procedures (internal or external genitalia), diagnostic testing, and/or other aspects of clinical management have yet to be made.

Exclusion Criteria:

• Turner syndrome, Klinefelter syndrome, bladder or cloacal exstrophy.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Usual Care; After obtaining consent, we will audio-record standard clinical consultations with specialists represented on the DSD team. These appointments will not utilize the Decision Support Tool. A qualitative analysis of these recordings will assess quality assurance and provide guidance for the development of the Decision Support Tool.
Use of Decision Support Tool; After obtaining consent, we will audio-record standard clinical consultations with specialists represented on the DSD team. These appointments will utilize the Decision Support Tool (DST). A qualitative analysis of these recordings will assess the practicality of use and possible benefits of the DST's implementation.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
In-clinic communications	To assess characteristics of communications between parents/caregivers of young children with DSD and the children's healthcare providers by audio-recording standard-of-care appointments at DSD clinic.	2.5 years

Collaborators and Investigators

• Sponsor: University of Michigan
• Collaborators: Patient-Centered Outcomes Research Institute; University of California, Los Angeles; Seattle Children's Hospital; Temple University; Virginia Commonwealth University
• Investigators: Principal Investigator: David E Sandberg, PhD, University of Michigan

Study record dates

Study Major Dates

• Study Start: June 1, 2013
• Primary Completion (Actual): May 1, 2016
• Study Completion (Actual): December 1, 2017

Study Registration Dates

• First Submitted: May 30, 2013
• First Submitted That Met QC Criteria: June 11, 2013
• First Posted (Estimate): June 12, 2013

Study Record Updates

• Last Update Posted (Actual): February 20, 2018
• Last Update Submitted That Met QC Criteria: February 19, 2018
• Last Verified: February 1, 2018

More Information

Terms related to this study

• Keywords: hypospadias; decision support tool; disorder of sex development; intersex; 46,XX congenital adrenal hyperplasia
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Endocrine System Diseases; Disease Attributes; Gonadal Disorders; Urogenital Abnormalities; Congenital Abnormalities; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Adrenal Gland Diseases; Steroid Metabolism, Inborn Errors; Penile Diseases; Hyperplasia; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Hypospadias; Rare Diseases; Disorders of Sex Development
• Other Study ID Numbers: 1360; 13-PAF00134 (Other Identifier: University of Michigan); HUM72007 (Other Identifier: University of Michigan)