Development of a decision support tool in pediatric Differences/Disorders of Sex Development

https://doi.org/10.1016/j.sempedsurg.2019.150838Get rights and content

Abstract

Decisions about how best to clinically care for young children born with Disorders of Sex Development (DSD) can be challenging because some decisions are irreversible, have lasting physical and mental health effects, and are frequently made before the affected person is able to participate in decision-making. This multi-stage study involved (1) the development of a web-based decision support tool (DST) for parents of infants or young children and the clinicians caring for them; (2) the assessment of communications and decision making between DSD specialists and parents both before and after introduction of the DST; and (3) interviews with a broad range of stakeholders regarding optimizing the DST and integrating it into usual care. Experience over the course of the 3 stages of this research suggests the need for further refinement of the DST to increase acceptability to all stakeholder groups, the necessity to address misperceptions by providers that they are already accomplishing all aspects of SDM in regular care without a DST and misunderstandings by parents that decisions are unnecessary because only a single option is apparent, and to better incorporate the tool into regular clinic workflow.

Introduction

Shared decision-making (SDM) has been promoted in healthcare by a number of professional societies and advocacy groups.1,2 The objective of SDM is to help patients (or their surrogates) make informed, preference-based clinical management choices among several relevant options.3 SDM does not imply that providers and patients must have equal responsibility for the final decision.4 Rather, SDM combines healthcare providers' expert knowledge and patients' (or surrogates') rights to make healthcare decisions with full information; it requires the involvement of both healthcare providers and the patients/caregivers, with bidirectional information exchange, mutual deliberation on treatment options, and agreement on treatment plans.5,6

In the context of SDM, decision support tools (DSTs) have evolved as a widely accepted approach to improve patients’ and surrogate decision-makers’ understanding of treatment-related information, promote informed decision making consistent with patient values and preferences, and minimize decision-related stress.7,8 However, few DSTs have been developed to assist parents and clinicians navigate complex decisions, in particular elective surgical decisions, about a child's care.

DSD is an umbrella term encompassing congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical.9 They are most commonly diagnosed at birth because of visible genital differences or because of discordance between prenatal genetic testing and the child's genital phenotype. Dependent on the definition of DSD applied, the estimated incidence is as high as 1% of all live births.10

Although conditions encompassed by the term DSD are diverse in terms of pathophysiology, they share overlapping features shown to exert profound effects on family adjustment, parenting, and emerging self-concept of the affected person. Decisions faced by families and healthcare providers on behalf of newborns and young children with DSD may include gender of rearing; if, how, and when to talk to others (e.g., extended family, close friends, the child him/herself, and siblings) about the DSD; contacting peer support and/or advocacy organizations; pros and cons of next-generation genetic sequencing; surgery (genital and/or gonadal) and its timing; and others.11,12

Clinical management decisions (some, largely irreversible) are commonly made in the first year of life, a time when parents can feel intense emotional distress and struggle with learning about their child's medical condition and its implications. Anxiety-driven decisions often reflect perceptions of a limited range of options with inadequately-weighed risk and benefit potentials.13, 14, 15, 16, 17, 18 Often, the “right” decisions about best courses of action are not always obvious. While major advances in diagnostic assessment (e.g., genetic testing) have occurred, results do not always reveal the cause of the DSD. Even when the tests uncover the responsible genetic variation, that knowledge does not commonly lead to a single “correct” treatment plan as a diagnosis (even a molecular genetic diagnosis) may suggest a number of different clinical management options – each of which may be associated with a positive outcome.19,20 Additionally, many treatment options are considered not only elective, but also controversial.21, 22, 23, 24

With the assistance of the child's healthcare providers and others, parents need to make decisions based on their knowledge of all options and associated risks and benefits of each and modulated by personal and family preferences, values, and religion/culture.25,26 However, parents often do not recognize that there are decisions to be made, nor that they play important roles in the SDM process. For example, a qualitative study of parental experiences revealed that many parents viewed genital surgery to "normalize" their child's sexual anatomy as an obvious and necessary clinical management component; i.e., for them, there was no point at which any decisions needed to be made regarding genital surgery.27 Additionally, former patients and healthcare advocates complain that parents are provided inadequate information with which to make decisions for their child. Research corroborates the claim that parents have often not heard of DSD conditions before their child's birth and typically do not perceive that treatment choices exist; instead, many assumed the diagnosis implied a single, specific treatment path.27

As some former patients, patient advocacy, and human rights organizations complain that families are not provided adequate information, nor sufficient professional and peer support necessary to make informed decisions, the overall objective of this project was to develop a DST for healthcare specialists and parents to navigate complex and contentious clinical management decisions on behalf of their young children. More specifically, this research set out to: (1) determine the content and delivery format for a DST desired by key stakeholders (i.e., parents of affected children, affected adults, patient advocates, pediatric endocrinologists, geneticists, gynecologists, psychologists, urologists/surgeons, ethicists, counselors, and others); (2) assess the quality of communications between providers and parents, both before and after introducing the DST into regular care; and (3) determine what is needed to fully integrate the DST into routine clinical management from the perspective of all stakeholders. Also evaluated were what specific characteristics of the DST and the healthcare system affect its likelihood for implementation.

Section snippets

Methods

Aligned with the three objectives, this project proceeded in three phases: DST development, examining provider-family communication during clinic visits, and identifying opportunities and barriers to DST implementation.

The DST

The web-based DST (“DSD Support Tool: A Guide for Parents”; no longer online) presented educational content and supported interactive involvement and data collection. The DST opened with an introductory module, seen by all users, which conveyed basic information about DSD and social support, including considerations for sharing information about the child's medical condition with family and close friends (see Fig. 1 for a list of all modules). Basic information was presented to all users, with

Discussion

Decision aids and support tools are commonly found in adult healthcare and have been shown, in systematic reviews, to reduce decisional conflict stemming from perceptions of inadequate information and lack of clarity about personal values, to increase the proportion of individuals who assume an active role in decision making, and to reduce the proportion of those who remain undecided after their use.33 The DST for DSD is novel in that it was designed specifically for the surrogate-decision

Acknowledgment

We thank the parents of children with DSD and their healthcare providers who permitted us to study the deeply personal process of decision making. We also thank all those, who as representatives of a wide variety of key stakeholder groups in DSD care, shared their experiences and suggestions for the development of the DST. Research reported in this article was funded through a Patient-Centered Outcomes Research Institute (PCORI) Award (1360). The statements in this work are solely the

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