Lesch Nyhan Syndrome Essay
Lesch Nyhan Syndrome
Lesch Nyhan Syndrome (LNS) was first reported in 1964 by Michael Lesch and William L. Nyhan. It is a rare disorder located on the x chromosome. It is a sex-linked trait, which means that it is passed from mother to son. This condition can be inherited or occur spontaneously as a result of a genetic mutation. It usually appears once in every 100,000 male births. Since the defective gene is recessive, females almost never exhibit symptoms of the disease. However, they can be carriers of the allele.
Lesch Nyhan is associated with an almost complete absence of the enzyme HGPRTase (hypoxanthene guanine phosphoribosil transferase). This is the enzyme that recycles hypoxanthen and guanine, which are two of the genetic building blocks. When this enzyme is not present, the hypoxanthen and guanine are converted into excessive uric acid. Children around four to six months old are usually diagnosed with LND when orange, sand like uric acid crystals are observed in their diapers. These crystals cause painful urination, arthritis and kidney stones as they build up in various areas of the body.
LNS had many symptoms. Affected people manifest developmental delays, seizures, spacticiy, speech impairment and moderate retardation. The victims usually fall within a 40-80 IQ range. By four years of age the children usually start to exhibit the most well-known symptom of Lesch Nyhan; self-mutilization. The patients begin practicing physical mutilization and hurting themselves through indirect emotional injuries. These behaviors seem to grow as the children get older and become more physically capable of inflicting self-injury and more mentally capable of thinking up new ways to hurt themselves.
Early forms of self-mutilization include biting of the tongue and cheeks, gouging the nose and eyes, rubbing various body parts raw, and banging the head, arms, and legs on things. Another realm of abnormal behavior associated with LNS is manifested as indirect or emotional self-injury. Individuals with these symptoms are compelled to hurt and abuse themselves and the people they care for most. They lash out at parents, teachers and aides. A few examples of this behavior include kicking and head butting as they are being dressed or bathed, cursing without provocation, spitting, vomiting or spilling drinks on care providers. After performing these behaviors, the individual will apologize profusely, only to repeat the offending behavior shortly thereafter.
Scientists have come to recognize this behavior as indirect attempts of self-injury. These aggressive actions cause others to become angry, and lead to either punishment or guilty feelings in the offender. In any case, these actions can be regarded not as attempt to hurt the other person but to indirectly hurt themselves as they suffer the consequences. For example, one LN boy was known to enjoy going to the movies. Nevertheless, when he was offered an invitation, he could not resist the compulsion to answer negatively. In this was he was able to deny himself a chance to have fun.
There is no known cure or treatment for LNS. Physicians can only treat symptoms of the underlying disease. One of the outstanding treatments is Allopurinol therapy. A
10-800mg dosage is administered daily. The medicine inhibits the activity of xanthene oxidase, consequently decreasing the level of uric acid. This prevents the muscular and skeletal symptoms. Kidney stones, which usually accompany the presence of “sandy urine” can be treated with lithotripsy. Other symptoms can be treated with the drugs carbidopa, leveodopa, haloperidol or phenobarbitol. There is no standard treatment for the neurological symptoms of LN.
Generally, the most appropriate approach to dealing with LNS patients is to use restraining devices. The implementation of these devices forms a different scenario for LND patients, as opposed to patients exhibiting other types of self-injuring behavior. This is primarily because people with Lesch Nyhan want the restraints to be used. They don’t want to hurt themselves, but they know that they unavoidably will if they are left unrestrained. They become very upset and fearful when left unprotected.
Restraints are typically restrictive, but in LNS cases well-made protective devices are actually enabling. They reduce the stress and fear of the individual that they will hurt themselves. This allows the patient to focus their energy on doing something more constructive. Patients who don’t need the devices all the time can learn to request them when they start feeling stress, and become more likely to inflict injury. It is important that the victim trust in their care provider’s ability to keep them safe. When they lose trust, their increased stress level will result in a higher frequency and intensity of self-injury. It is an ongoing struggle to make restraining devices that actually work, and not just provide another implement for the patient to hurt themselves with.
Another way to regulate behaviors is called selective ignoring. The caretakers act as if the hurtful behaviors are not happening, and go about business as usual. They make no verbal recognition of any wrongful behaviors on the part of the victim. For example, if in the middle of a reading lesson a boy curses and spits at his teacher, the instructor should continue the lesson as if nothing has happened. They shouldn’t show facial expressions of disapproval, retreat, or even reassure the patient that everything is ok. There should certainly be no punishment. Any response tends to increase the unwanted behaviors, but if they are completely ignored behaviors may decrease. When there are no negative consequences, wrong behaviors lose their potential to be self-injuring.
Another measure that is taken with the more destructive Lesch Nyhan patients is to have their teeth filed or removed. This is to insure that they won’t bite off their lips and tongue. Many LN individuals are blind because they have gouged out their eyes with their fingers. Their arms and legs must be restrained to prevent this. Also, their nails have to be clipped to the nub so that they can’t be used to scratch themselves.
There are several ongoing medical research projects regarding Lesch Nyhan patients. One of these studies, conducted by Jeffery A. Carmen, tested the use of biofeedback in trusting the self-mutilating symptoms of LNS. He wanted to see how effective biofeedback equipment was in controlling the mutilating behavior of the subject. Biofeedback is a technique where someone seeks to consciously regulate an involuntary body function, such as blood pressure or heart rate, by using an instrument to monitor the function and signal any changes in it. Dr. Carmen built an electromyographic (EMG) monitor and custom designed relay box that could either be hooked up to a video game or a tape player. They attached this apparatus to a small boy with LN. he eventually learned how to control the sudden high levels of muscle tension which were causing him to self-inflict pain. Another study was proposed to continue the research that was begun in this experiment.
Subjects occasionally experience periods of remission. However, unless they are undergoing allopurinol therapy, they typically don’t survive past the age four. With therapy, the symptoms of LN become less pronounced after the patient get older than ten or twelve years. Lesch Nyhan victims can live into their twenties, where they often die from an infection or kidney failure.