Health Care Needs

Special Health Care Needs for Individuals with Chromosome 15q Duplications

Individuals with chromosome 15q11.2-13.1 duplication syndrome have special health care needs.

  • These individuals have a lifelong developmental disability.
  • They may need health and related services more than most individuals.
  • They may receive these services from various public and private agencies in the health, education, and social service sectors.
  • As a result of complex conditions and many different providers, families of affected individuals may need help in coordinating their care.

Practical tips for physicians, nurses and office staff to help ensure that medical office visits run smoothly

Anticipate Special Needs in Scheduling the Visit

Patients with dup15q may need more time to complete an exam and administer necessary treatments. Make sure families know about scheduling options for longer visits, and identify the patient as having a special health care needs for staff working in the scheduling system.

Some families will find it difficult to wait in a crowded waiting room due to their child’s sensory issues. Offer these families an alternate space when waiting times may be long.

Help Families Prepare for the Visit

Communicate what medical records might be needed with enough time for families to obtain them.

In the Exam Room

Use the family as experts.  Ask families for advice about how to approach their child before an exam or procedure. At the beginning of first office visit, ask the family whether their child is anxious during medical office visits and how they would like to manage their child’s anxiety. If a child is highly anxious, determine with the family what parts of an exam are critical and what can be deferred to another visit. Determine whether medication might be helpful, especially when future medical or dental procedures may be required.

Write it down

Recognize that parents of children with dup15q may be occupied in managing their child’s behavior during an office visit and may not be able to fully attend to you. Use written plans for care and provide information on recommended medical treatments in writing.

What’s missing?

Ask questions about the impact of your patient’s condition on the family and assess the support systems in place. Encourage the family to discuss other facets of their child’s life, including in-home care, education, recreation and socialization. Connect families to community resources that may help decrease stress and promote better health.

Help Coordinate Care

Families are often overwhelmed with the responsibility for coordinating their child’s care. You can help ensure continuity of care by working to improve timely communication with a child’s medical specialists. You can also help families make sense of multiple recommendations from different providers. 

Additional Resources:

The National Center of Medical Home Initiatives for Children with Special Needs provides support to physicians, families, and other medical and non-medical providers who care for children with special needs.

American Academy of Pediatrics
National Center of Medical Home Initiatives for Children with Special Needs
141 Northwest Point Blvd
Elk Grove Village, IL 60007
website: www.medicalhomeinfo.org

The Institute for Family-Centered Care provides leadership to advance the understanding and practice of patient- and family-centered care in hospitals and other health care settings.

Institute for Family-Centered Care
7900 Wisconsin Avenue, Suite 405
Bethesda, Maryland 20814
phone: 301-652-0281
email: institute@ipfcc.org
website: www.familycenteredcare.org