Treatment

At the present time, there is no specific treatment that can undo the genetic pattern seen in people with chromosome 15q11.2-13.1 duplication syndrome (dup15q).  Although the fundamental genetic differences cannot be reversed, therapies are available to help address many of the symptoms associated with dup15q.  Physical, occupational, and speech therapy along with special education techniques can help individuals with dup15q to develop to their full potential.

MEDICAL MANAGEMENT

Clinicians should be aware that individuals with chromosome 15q duplications may tolerate medications differently and may be more sensitive to side effects for some classes of medications. Thus, 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 endpoint as to what the expected outcome for treatment is. This includes nutritional and homeopathic supplements.

A group at the University of California at Davis, reported three families, which included five people with interstitial duplications of chromosome 15. The children had ADHD, PDD or autism. Three out of five were treated with methylphenidate (Ritalin) for their ADHD symptoms and responded well. One of these children had also been given a trial of adderall but did not respond as well so was placed back on methylphenidate. Risperidone had mixed effects - for one child it was beneficial and one responded poorly (no details given). Fluoxetine was not beneficial for any of the 3 children treated with it - two had aggressive behaviors and one was reported as not responding. In other clinical settings, fluoxetine and other SSRIs have been useful for treatment of irritability associated with compulsive behavior, but clinicians should be mindful that many children with duplications of chromosome 15 have mood instability which may need to be treated with a mood stabilizer before use of an SSRI. Although much research remains to be done, oxcarbazine may be more useful for mood stabilization than valproic acid.