Chapter 2 TREATMENT GUIDELINES

As stated in Chapter 1 INTRODUCTION, the following guidelines represent an idealized treatment scenario; not all health care professionals can achieve what is described below given the real constraints of the institutions in which they function. Health care professionals are encouraged to spend their energies on developing local and networked systems that consistently provide patient-centered care (see the section called “Definition of Patient-Centered Care for DSDs”) rather than attempting to reproduce exactly what is outlined below.

MULTIDISCIPLINARY TEAM APPROACH

The multidisciplinary team can play a critical role in creating a climate of commitment to the health and welfare of children born with DSDs, as well as to their families.[Chase2002] It can make possible the provision of excellent care that has as its goal the long-term physical and psychological well-being of individuals with DSDs and of their families.[Brown2005] Although many children born with DSDs are healthy and require little medical management, having families connected with multidisciplinary teams as early as possible may ensure that familiar, expert care givers will be available when psychological, surgical, or medical needs do arise. Additionally, the challenges brought on by the environment of a developing child and family will require ongoing assessment and possible changes to established treatment goals.

Integrated team care allows focus on psychosocial concerns while providing continuity of care in fields that may at some point be needed (e.g., gynecology). It also allows substantial learning among team members and provides a critical mass of families useful for providing local peer support.

In many major medical centers, the multidisciplinary clinic model is just beginning to be used for DSDs. Presently this model is being used effectively for craniofacial anomalies[Chin1990 Tindlund1997 Shah1980] as well as other conditions like pediatric diabetes.[Gelfand2004 Kaufman1999 Lowes1997] Those attempting to establish multidisciplinary teams and clinics for the management of DSDs may look to colleagues working with similar teams and clinics for ideas and personnel. Such colleagues can provide invaluable advice about arranging space and meetings, obtaining reimbursement for multidisciplinary care, and fostering peer support. To state the obvious: Having a team in place does not mean the group is truly functioning as a team. Only through regular communication about cases, outreach, new findings, etc., can a team become more than the sum of its parts.

TEAM COMPOSITION

The issues surrounding DSDs are multidimensional requiring cooperation from a number of disciplines in order to provide effective diagnosis, treatment, and support. A multidisciplinary DSD team typically consists of members from each of the following disciplines (in alphabetical order):

  • Child Psychology/Psychiatry

  • Genetics and Genetic Counseling

  • Gynecology

  • Nursing

  • Pediatric Endocrinology

  • Pediatric Urology

  • Social Work

  • and others as needed.

See Table 2.1 “Division of responsibilities” for the division of responsibilities among team members.

Table 2.1. DIVISION OF RESPONSIBILITIES

SPECIALTY (alphabetical order)

RESPONSIBILITIES

Child Psychology and/or Child Psychiatry

Diagnosis and management of mental health needs of child; formal evaluations of child’s cognitive status to assess child’s ability to participate in decision-making; referral for mental health needs of parents; assessment of parent/child relationship and facilitation of healthy parent/child relationship.

Genetics and Genetic Counseling

Diagnosis of genetic etiologies; genetic counseling of parents, mature child, and other concerned family members.

Nursing and Social Work

Coordinate care and provide practical help to patients and parents. Provide educational help and connect families with resources and support services. Keep team apprised of special concerns of the family. If they have the specific training and experience, they may also supplement the mental health services provided by the team’s psychologists and psychiatrists.

Pediatric Endocrinology

Diagnosis and management of endocrine disorders, including those involving development of secondary sex characteristics, fertility, and adrenal and pituitary function.

Pediatric Gynecology

Assessment of female sexual anatomy. May work with urologist when surgery is considered.

Pediatric Urology

Diagnosis and management of urologic concerns; provision of surgical services when necessary and requested. (Note that at some institutions general pediatric surgeons provide surgical care.)

others as needed

For example: Parents may occasionally need and want professional adult mental health services, especially in moments of crisis. If there are language differences, a trained medical interpreter will be needed (see When English is not the Family’s First Language). The team may also need to consult with a clinical ethicist, especially when opinions differ regarding what constitutes the child’s best interests. Some teams have also found it useful to have a biochemist as a regular member.

TEAM OBJECTIVES

The goals of the team include the following.

  1. Provide integrated care for patients, including initial support to parents.

  2. Develop and implement an integrated consultation system and multidisciplinary clinic with regular case conferences.

  3. Provide continuing education for team members regarding DSD issues through regular meetings and in-service programs (e.g., journal club, guest presentations, grand rounds).

  4. Implement long-term follow-up of patients and their families to evaluate outcomes, to ensure quality care, and to advance team learning.

  5. Connect with and educate community pediatricians and other health care professionals.

  6. Reach out to parents and adults with DSDs to grow a local peer support network.

TEAM LEADER, TEAM COORDINATOR, AND TEAM LIAISON

The efforts of team members need to be managed in a timely, organized, and consistent manner. To ensure this, it is often useful to designate individuals to play the following roles:

  • Team Leader The team leader, a physician, functions as the formal institutional head of the team; he or she assembles the team and oversees the team’s efforts.

  • Team Coordinator The team coordinator, often a nurse practitioner or social worker, keeps team members connected (including by organizing consultations, case conferences, and team educational opportunities) and ensures timeliness and continuity in case management.

  • Team Liaison The team liaison (sometimes a nurse practitioner, social worker, genetic counselor, or psychologist) serves as the point person for the family, ensuring that parents are kept informed of all care and treatment options and linking the family with resources and support services.

These roles need not be mutually exclusive or divided in precisely this way. Some teams find that the work of the liaison is best shared by the leader (a physician) and the coordinator (e.g., a social worker), having the leader function as the liaison for major consultations (e.g., the initial meeting with the parents) and the coordinator function as liaison for routine care.