Self-injury in Lesch-Nyhan disease

Abstract

Parents of 40 patients with Lesch-Nyhan disease completed a questionnaire detailing developmental history, life course, management, medication, factors influencing variability and topography of self-injury. Several conclusions were reached. Characteristics: Biting was the predominant form, perhaps only because of the difficulty of preventing it. There was considerable variability in self-injury which was strongly related to stress rather than to operant influences. Even though patients could not inhibit self-injury they could predict it and request restraints. Aggression against others was as prevalent as self-injury.

Management: Stress reduction, teeth extraction, and physical restraint were the most commonly used management techniques. Behavior modification was of limited efficacy. Benzodiazepines were the most commonly used medications for controlling self-injury.

Outcome: The severity of self-injury did not change over years. Age of onset was a predictor of outcome. The earlier the age of onset the worse the self-injury eventually became. The discussion describes research strategies, suggests dimensions along which self-injury can be classified, and highlights behavior not commonly described in patients with Lesch-Nyhan disease.