Managing KS

Check out these items that help make life a bit easier.

Transitioning from childhood dependence to adulthood independence is something that all of us must eventually tackle. Included are stories from parents of young adults with Kabuki syndrome and some of those young adults themselves.

A comprehensive summary of Kabuki Syndrome, including diagnosis, clinical description, differential diagnosis, management, genetic counseling, molecular genetics, and resources. Compiled and submitted to GeneReviews by Dr. Margaret Adam and Dr. Mark Hannibal from the University of Washington and Dr. Louanne Hudgins from Stanford University. It has been formatted by KSN into a handy pdf file for easy donwnload.

Although most individuals with Kabuki are ambulatory, there are a few who are not. Also, some individuals who are mobile may not have the endurance for long walks. As a result, some parents find it useful to own a stroller for their youth/adult children. Here are a few options that are used by our families.

An indepth look at developing and implementing a transition plan for our children.

A clinical geneticist should be an integral part of the child's medical team.

A family-friendly printable package of information.

A few ideas to incorporate therapy swings in your home.

Numerous bike options.

Dyscerne, a European Network of Centers of Expertise for Dysmorphology have developed a Clinical Guideline for the Management of Kabuki Syndrome. It has been developed for profesionals and families to aid in the coordinated management of a multiple anomaly syndrome. The guideline includes "criteria for diagnosis, protocols for review and screening, and information on management at different life-stages."