EPSE 513 Amanda Schulkowsky Lesch-Nyhan Syndrome Cause/Prevalence Lesch-Nyhan Syndrome (LNS) is caused by an enzyme deficiency at birth that

is responsible for breaking down uric acid in the body. The body then has a build-up of uric acid that causes severe mental and physical disabilities. LNS is an X-linked recessive syndrome, meaning that females are carriers and the symptoms present themselves in male offspring. However, there has been seven reported cases of LNS in females around the world. It is a rare disease, occurring in 1 out of 380,000 males. Most with this syndrome live up to 40 years old and usually die from kidney failure, pneumonia, or asphyxiation from the muscles being too weak to support breathing. Physical Characteristics LNS is first suspected in infants when an orange sand substance (uric acid crystals) is found in the diaper. This finding combined with poor muscle tone usually is significant enough for a diagnosis. The first sign that poor muscle tone is an issue is when infants are unable to hold their head up on their own at the appropriate developmental age. The poor muscle tone leads to a general delay in growth. People affected with this disorder are usually wheel chair bound. They may also have scarring due to frequent biting of the lips and fingertips. The buildup of uric acid in the body overtime will most likely cause swelling at the joints.

Figure 1. The buildup of uric acid in the joints. Taken from Badash, M. (2011). Lesch-Nyhan Syndrome http://www.med.nyu.edu/content?ChunkIID=22829

Educational Challenges Physical Health Gout and kidney stones are a common problem associated with LNS. Foods that are high in purines (a chemical that raises uric acid levels in the body) should be avoided. These foods are: mussels, yeast, sardines, sweetbreads, bacon, liver, salmon, and turkey. Due to the compulsive self-injurious behaviours of LNS, the child with this syndrome will need close monitoring of open wounds especially to the fingertips and lips to prevent

EPSE 513 Amanda Schulkowsky bacterial infections from occurring. There is most likely going to be pain associated with the self-injurious behaviours. If the child is acting out, it is important to make sure that the there all possibilities of pain have been ruled out such as sores around the mouth from lip biting. Doctors often recommend teething gels for this pain and may also suggest a combination of acetaminophen and ibuprofen for any other pain. Make sure to consult with the childs medical team before administering any medications for pain. Many people with LNS have been taught to ask for restraint equipment during times of high stress so they do not cause damage to themselves. Restraints used are often soft Velcro wrists cuffs that are attached to the wheelchair. It has been reported that these individuals actually feel calmer when restrained. However, this protocol must only be put in place upon agreement with the medical team and caregivers of the individual. Cognitive Development More often than not there is a cognitive impairment in individuals with LNS. Previous cases of LNS indicate a wide range of intellectual functioning from moderate learning disability to low average intelligence. However, testing results should be used lightly as it is difficult to test the intelligence of someone with LNS due to motor impairments. The majority of most LNS show the most weakness with understanding long verbal directions, multi-step reasoning, and working memory. Most children have also shown a slow acquisition of new skills. A teacher with this student will most likely need to modify the curricular material. Teachers have had success with finding out the students interests and relate the curricular material to the interests as LNS individuals have been able to describe their interests in detail (e.g. scores of their favourite sports team) Language/Communication Development Speech problems have been present in all individuals with LNS called dysarthria which is an impairment in the motor nerves that control speech. While these individuals develop language and are able to communicate their wants and needs, it can often be hard to understand their speech. Therefore it is critical that the student learn augmentative and alternative communication (AAC) strategies as soon as possible. This will mean working in conjunction with a Speech and Language Pathologist (SLP) who can do an assessment of the abilities and limitations of the student so an AAC system can be recommended with the individuals wants and needs included. Sensory Issues There are no known sensory issues present in individuals with LNS. Motor Impairment Muscle development is abnormal resulting in dystonia where the muscles contract involuntarily. Many individuals cannot walk and end up confined to a wheelchair. Any classroom would have to accommodate these individuals with wheelchair access and a full-time aide to help with personal care around toileting and eating. Even though the student with LNS will most likely be confined to a wheelchair, it is important that the teacher include motor stimulation activities throughout the day that

EPSE 513 Amanda Schulkowsky will help with independence. Depending on the level of motor impairment, an LNS student can learn to operate his wheelchair through the use of switches. Switches can also be used for operating toys, music players, AAC systems, and other electronic devices. Social Emotional/Behavioural Development Many individuals with LNS are not only aggressive towards themselves but also aggressive towards their caregivers in the form of biting, spitting, and head butting. Caregivers have found that the occurrence of verbal and physical outbursts happen when the individual is in pain or stressed. Teachers will need to rule out any sources of pain by following the pain management protocol set out by the medical team. Students with LNS can also be taught to communicate when they are pain through their AAC device or other form of communication such as pictures or symbols. Teachers should recognize the signs of physical outbursts before it happens (e.g. facial twitching) and try to encourage the student to communicate his distress. As mentioned before, this emphasizes the need for introducing an AAC system as soon as possible to not only help relieve discomfort and attend to basic needs, but to allow the LNS individual to develop relationships with others. Other Individuals with LNS will most likely be prescribed medication to help with the absorption of uric acid. The most common medication is allopurinal. There are many other ailments that are co-morbid with LNS such as anxiety, depression, sleep disturbances, and renal failure which will also require medication. Common medications for individuals with LNS to be taking are diazepam, fluoxetine, haloperidol, phenobarbital, and melatonin. Teachers need to be aware that this medication may need to be administered during the day. References Badash, M. (2011). Lesch-Nyhan Syndrome. Retrieved from http://www.med.nyu.edu/content?ChunkIID=22829 Baker, P. (2009, June 5). Lesch-Nyhan Syndrome Philip Baker [Video file]. Retrieved from http://www.youtube.com/watch?v=8yDdvc5HKJM Lesch-Nyhan Disease International Study Group. (2011). Retrieved from http://www.lesch-nyhan.org/en/ Preston, R. (2007). An error in the code. New Yorker, 83(23), 30-36. Purine Metabolic Patients Association. (2002). Caring for Children with Lesch-Nyhan Disease. Retrieved from http://www.pumpa.org.uk/Lesch_Nyhan_Disease.pdf