What Is the Treatment for Kabuki Syndrome?

Treatment for Kabuki syndrome varies depending on the patient's cluster of problems as well as what resources and strategies are available at the time. Since this disorder often involves developmental delays in several areas, treatment usually has multiple parts. Speech therapy, physical therapy, and sensory therapy are all common components of Kabuki syndrome treatment. Later in life, individuals with this disorder may require occupational therapy as well. In certain cases, medications and surgeries can be part of a treatment plan as well.

One of the most important parts of Kabuki syndrome treatment is early identification. Once a diagnosis has been made, it becomes much easier to identify health problems associated with this congenital disorder. Given the rarity of this particular problem, identification is not always easy. Early intervention, including learning assistance and parental support, can vastly improve the life of a child with this particular disorder.

Many health problems are associated with Kabuki syndrome, though these do not appear in all cases. Hearing loss, urinary tract anomalies, and heart defects are all commonly associated with this disorder. People who have this disorder also often get ear infections as young children. These problems are typically treated individually with therapies appropriate to the problem in question, although children with many problems may require special considerations.

Kabuki syndrome often results in developmental delays and speech problems. Speech therapy for this syndrome often aims to correct problems with articulation and resonance that are caused by physical abnormalities and poor motor coordination. Abnormal prosody is also common, and strategies for improving communication in this area often need to be tailored specifically to this disorder, as speech patterns for children with Kabuki syndrome are often unique and do not always improve over time.

Treatment for the physical coordination elements of Kabuki syndrome involves strengthening the muscles and improving coordination through practice and games. This disorder also often causes problems with intellectual development, although some people with this syndrome do possess what is considered normal intelligence. Many children require a type of therapy called sensory therapy, which helps the child deal with sensations that he or she may find unpleasant or may be completely unable to stand. Sensory therapy is often based almost entirely in games designed to increase exposure and improve responses through practice.

Each individual child may need slightly different treatment for Kabuki syndrome, but one of the major hidden aspects of treatment is training for parents. Family treatments are necessary because so much of the treatment of the child occurs in the home. Childhood illnesses can cause significant stress on a family, so it is important that the entire family unit is receives support to ensure that stress does not cause lapses in treatment of the child.