At the present time there is no specific treatment that can undo the genetic pattern seen in people affected by chromosome 15q duplications. Although the fundamental genetic differences cannot be reversed, therapies are available to help address many of the symptoms associated with dup15q syndrome. Physical, occupational, and speech therapy along with special education techniques can stimulate children with dup15q syndrome to develop to their full potential.
In terms of medical management of the symptoms associated with dup15q syndrome, families should be aware that individuals with chromosome 15 duplications may tolerate medications differently and may be more sensitive to side effects for some classes of medications, such as the selective serotonin reuptake inhibitors (SSRIs). These medications should be used with caution and any new medication should be instituted in a controlled setting, with slow titration up to the expected therapeutic dose, and with a clear idea of the expected outcome for the treatment. This includes supplements.
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.
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.
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
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.