Lesch-Nyhan Disease (April 1998)
What information do you have on Lesch-Nyhan Disease ?
The following information is from the Matheny Bulletin, v3 n, special issue, Fall 1993. Matheny School and Hospital, Peapack, NJ.
Lesch-Nyhan Disease (LND) is a rare and devastating genetic disorder characterized by severe dystonia, spasticity, speech impairment, renal disease, varying degrees of cognitive deficit, and the hallmark symptom, compulsive self-injury. Lesch Nyhan Disease was first reported by Michael Lesch, MD, and William L. Nyhan, MDPHD, in 1964 when they described two affected brothers. LND is a rare condition that is caused by a defective gene on the X chromosome. The condition can be inherited, or can occur spontaneously via a genetic mutation. Since the defective gene is recessive, females almost never exhibit the disease, but may be carriers. There are only two documented cases of females with LND in the world's literature and various mutations have been hypothesized for this rare occurrence. LND appears to be distributed evenly among races and geographic locales and occurs in approximately one of every 380,000 births. As a consequence there are only several hundred individuals with LND currently living in the United States.
LND is associated with a nearly complete absence of the enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRTase), which is normally used by the body to salvage purine derivatives, (hypoxanthine and quanine) for reuse in DNA and RNA synthesis. A lack of this enzyme means that these salvage pathways do not operate and so the body has to create more purines through biosynthesis to keep up with demand. This overproduction leads to a balanced increase in degradation the main product of which is uric acid which causes an excessive concentration within the body as a result.
By four years of age many of the affected children begin to exhibit the classic manifestation of LND, self-mutilation. The behaviors seem to escalate as the child grows and becomes more physically capable of inflicting self-injury, and he becomes more cognitively capable of conceiving new methods of self-injury. The self-mutilation seen in LND is generally quite severe and can lead to the loss of lips and fingers from biting, visual loss from rubbing the eyes, and any number of other injuries. It is hypothesized that the self-mutilation is related to neurotransmitter abnormalities, in particular derangements in serotonin or dopamine metabolism.
Early forms of self-injury include biting of the tongue and cheek, head banging, arm and leg banging, rubbing various body parts until raw, nose gouging, and eye gouging. In most cases some form of mechanical restraint becomes necessary to protect the individual from himself. Indeed, designing comfortable and functional restraints that do not become further instruments for self-injury is an ongoing challenge.
The most appropriate general purpose approach to dealing with Lesch-Nyhan self-injurious behaviors is to employ protective devices. The use of protective devices with LND is much different than the use of physical or chemical restraints in other instances of self-injurious behaviors. Individuals with LND desire the use of protective devices. They do not want to hurt themselves or others, but they know that they will if they are allowed to do so. They become extremely upset and fearful when left unrestrained or unprotected. While restraints are usually viewed as restrictive, in the case of LND, well-engineered protective devices are enabling. They reduce the stress and fear of self-injury and allow the individual to concentrate on constructive activity. Most individuals with LND can to varying degrees learn to direct the application of their protective devices. Those individuals who do not need the devices at all times can be taught to request them when they are feeling stress and are thus more likely to attempt self-injury. If the individual with LND loses trust in the care provider's ability to keep him safe, the increased stress will result in a higher frequency and intensity of self-injury.
In addition to the myriad forms of physical self-injury seen in LND, there is another realm of behavioral abnormality. This is discussed as aggressive behavior in much of the Lesch-Nyhan literature, but will be referred to as indirect self-injury or emotional self-injury here. Individuals with LND not only demonstrate a compulsion to injure themselves, they also compulsively attempt to injure or otherwise abuse others, including those they care for the most, such as parents, teachers, and aides. Examples are kicking and head butting while being dressed or bathed, cursing without provocation, spitting or vomiting on care providers, and spilling drinks. After performing these behaviors, the individual will characteristically apologize profusely, only to shortly thereafter repeat the behavior. We have come to recognize these behaviors as indirect attempts at self-injury. These aggressive behaviors cause others to become angry, which may lead to the perpetrator being punished, or minimally feeling guilty. In any case, this can be interpreted as a form of self-injury, as the intent may not be to harm the other person, but to suffer the consequences. Such emotional self-injury can be exceedingly subtle. For example, one boy was known to enjoy going to the movies but could not resist the compulsion to answer negatively to an invitation, thus denying himself a favored activity.
An approach that is often effective in dealing with "Lesch-Nyhan behaviors" is what we call selective ignoring. Assuming that the appropriate protective devices are in place, or that a hand over hand activity is being conducted, the goal is to act as if the"Lesch-Nyhan behaviors" are not happening, and to continue to conduct business as usual. At no time should there be any verbal recognition of any "Lesch-Nyhan behaviors." For example, if in the middle of an individual reading lesson the boy curses or spits at the teacher, the teacher should continue the lesson without any response to the behaviors. There should be no facial expressions of disapproval, no physical retreat, nor any reassurance such as "That's okay," and there certainly should be no punishment. Any response will tend to increase the unwanted behaviors, but if the behaviors are completely ignored, they may decrease. When there is no negative consequence to behavior such as cursing or spitting, the behavior tends to lose its self-injurious value. Even if the behavior persists, at least the educational process continues and desirable behaviors may be recognized and rewarded. So, even though the boy spits or curses during the reading lesson, he also may be reading some words correctly. The attempt at reading should be praised and encouragement given to continue.
Traditional academic programs and techniques are generally not very effective with students with LND. Frequently, the pressure to perform in a traditional educational atmosphere elicits "Lesch-Nyhan behaviors" to the point where the student is unable to function as part of a classroom. Instead, approaching academics in functional, real-life settings and activities has been more successful for it encourages active participation, self-direction, and choice-making that a traditional approach does not. Throughout this process, the student is acquiring skills that are necessary to live as independent a life as possible through activities that build self-esteem and lead to tangible successes. For example, a student can work on money skills in the grocery store and succeed by purchasing and carrying away items for use in another area of his program. A good indicator that this approach is beneficial is the number of goals and objectives achieved by students on a regular basis in the functional setting, where these same students were not achieving goals or objectives when the educational format was more traditional.
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