Kabuki Syndrome Health Article

Treatment and management

There is no cure for Kabuki syndrome. Treatment of the syndrome is variable and centers on correcting the different manifestations of the condition and on strategies to improve the overall functioning and quality of life of the affected individual.

For children with heart defects, surgical repair is often necessary. This may take place shortly after birth if the heart abnormality is life threatening, but often physicians will prefer to attempt a repair once the child has grown older and the heart is more mature. For children who experience seizures, lifelong treatment with anti-seizure medications is often necessary.

Children with Kabuki syndrome often have difficulties feeding, either because of mouth abnormalities or because of poor digestion. In some cases, a tube that enters into the stomach is surgically placed in the abdomen, and specially designed nutritional liquids are administered through the tube directly into the stomach.

People with Kabuki syndrome are at higher risk for a variety of infections, most often involving the ears and the lungs. In cases such as these, antibiotics are given to treat the infection, and occasionally brief hospital stays are necessary. Most children recover from these infections with proper treatment.

Nearly half of people affected by Kabuki syndrome have some degree of hearing loss. In these individuals, formal hearing testing is recommended to determine if they might benefit from a hearing-aid device. A hearing aid is a small mechanical device that sits behind the ear and amplifies sound into the ear of the affected individual. Occasionally, hearing loss in individuals with Kabuki syndrome is severe, approaching total hearing loss. In these cases, early and formal education using American Sign Language as well as involvement with the hearing-impaired community, schools, and enrichment programs is appropriate.

Children with Kabuki syndrome should be seen regularly by a team of health care professionals, including a primary care provider, medical geneticist familiar with the condition, gastroenterologist, and neurologist. After growth development is advanced enough (usually late adolescence or early adulthood), consultation with a reconstructive surgeon may be of use to repair physical abnormalities that are particularly debilitating.

During early development and progressing into young adulthood, children with Kabuki syndrome should be educated and trained in behavioral and mechanical methods to adapt to any disabilities. This program is usually initiated and overseen by a team of health care professionals including a pediatrician, physical therapist, and occupational therapist. A counselor specially trained to deal with issues of disabilities in children is often helpful is assessing problem areas and encouraging healthy development of self-esteem. Support groups and community organizations for people with disabilities often prove useful to the affected individuals and their families, and specially equipped enrichment programs should be sought. Further, because many children with Kabuki syndrome have poor speech development, a consultation and regular session with a speech therapist is appropriate.

Prognosis

The abilities of children with Kabuki syndrome vary greatly. Most children with the condition have a mild to moderate intellectual impairment. Some children will be able to follow a regular education curriculum, while others will require adaptations or modifications to their schoolwork. Many older children may learn to read at a functional level.

The prognosis of children with Kabuki syndrome depends on the severity of the symptoms and the extent to which the appropriate treatments are available. Most of the medical issues regarding heart, kidney or intestinal abnormalities arise early in the child's life and are improved with medical treatment. Since Kabuki syndrome was discovered relatively recently, very little is known regarding the average life span of individuals affected with the condition, however, present data on Kabuki syndrome does not point to a shortened life span.

BOOKS

Behrman, R.E., ed. Nelson Textbook of Pediatrics. Philadelphia: W.B. Saunders, 2000.

PERIODICALS

Kawame, H. "Phenotypic Spectrum and Management Issues in Kabuki Syndrome." Journal of Pediatrics 134 (April 1999): 480-485.

Mhanni, A.A., and A.E. Chudley. "Genetic Landmarks Through Philately—Kabuki Theater and Kabuki Syndrome." Clinical Genetics 56 (August 1999): 116-117.

ORGANIZATIONS

CardioFacioCutaneous Support Network. 157 Alder Ave., McKee City, NJ 08232. (609) 646-5606.

Kabuki Syndrome Network. 168 Newshaw Lane, Hadfield, Glossop, SK13 2AY. UK 01457 860110. <http://www.ksn-support.org.uk>.

National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518 or (800) 999-6673. Fax: (203) 746-6481. <http://www.rarediseases.org>.

WEBSITES

"Entry 147920: Kabuki Syndrome." OMIM—Online Mendelian Inheritance in Man. <http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147920>.

Oren Traub, MD, PhD