Lesch Nyhan Syndrome and Self-Injurious Behavior Alexa Pereira

Lesch Nyhan syndrome A rare X-linked recessively inherited disorder. Affects 1 in 380,000 births. First described in 1964 A disorder of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Lack of HGPRT causes a build up of uric acid in all body fluids This can lead to severe gout, kidney problems, poor muscle control and mental retardation. Jeong, Tae-Sung, Ji-Hyun Lee, Shin Kim, Ji-Hoon Kim, and Ruwaida G.H. Tootla. "A Preventative Approach to Oral Self-mutilation in Lesch-Nyhan Syndrome: A Case Report." Pediatric Dentistry

Lesch Nyhan syndrome continued… Gene mutation is usually carried my mother and passed onto her son. LNS is present at birth in males. Majority of people with LNS have severe intellectual and physical disabilities. Occurrence is rare in females.

Signs and Symptoms Neurologic dysfunction Cognitive and behavioral disturbances Self mutilation Delayed growth Initial symptoms to be observed: Presence of sand-like crystals of uric acid in the diapers of infants The crystals can form multiple tiny stones that cause blood in the urine and an increased risk of urinary tract infections. Leschnyhan.org

Nervous system impairment People with LNS have a decreased muscle tone (hypotonia). Babies with LNS are delayed in sitting up. Some never crawl or walk A Lack of speech Extrapyramidal involvement- involuntary muscle contractions are noticed. EX: Arching of the spine, loss of motor control, spasticity http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm.

Self-Mutilating Behavior Initially observed to be biting tongue and lips and can progress to finger biting and head banging. Usually begins at three years old Is apparent in 85% of males affected by LNS. www.dent.ucla.edu

Example of self mutilated lip

Treatment The symptoms caused by the build up of uric acid respond well to medication EX: Allopurinol- reduces level of uric acid in the blood. Intellectual deficits and self mutilating behavior do not respond well to medication THERE IS NO CURE!

Treatment Self-injurious behavior is managed by a combination of medical, physical and behavioral interventions. Self mutilation is reduced by using restraints 60% of people with LNS have their teeth extracted to prevent self mutilation. Full mouth extractions should be the last option. Cauwels, R.G.E.C., and L.C. Martens. "Self-mutilation Behaviour in Lesch-Nyhan Syndrome." Journal of Oral Pathology and Medicine

Management of self injurious behavior There are oral appliances that can be used to prevent self injurious behavior. Full mouth extractions are not the only options available for people with LNS. Recommended only for severe cases and if medical problems arise. Cauwels, R.G.E.C., and L.C. Martens. "Self-mutilation Behaviour in Lesch-Nyhan Syndrome." Journal of Oral Pathology and Medicine

Management of self injurious behavior www.ojrd.com

Options other than full mouth extractions Preventive treatment must be developed for each patient based on clinical findings. Removable appliances do not work well in cases where lateral jaw movements are present. An appliance that is cemented in usually works better, but makes oral hygiene more difficult. Croglio, David, Terrence Thines, Michael Fleischer, and Patrick Anders. "Self-Inflicted Oral Trauma: Report of Case." Special Care In Dentistry

Oral Appliances that prevent self injurious behavior Lip Bumper Prevents the lower lip from being drawn into the mouth. Orthodontic bands are cemented into the lower teeth and a modified lip bumper is inserted into the mouth and secured by using orthodontic ligature wires. Oral hygiene is not significantly compromised due to the appliance. In a clinical study, the lip bumper prevented injury to the lower lip. Periodic examination is essential. Saemundsson, Sigurour, Cand Odont, and Michael Roberts. "Oral Self-Injurious Behavior in the Developmentally Disabled: Review and a Case." Journal of Dentistry For Children

Oral Appliances continued… Mouthguard Made out of soft resin material Cemented into teeth Oral hygiene can be difficult Using a denture adhesive like Poligrip instead of cement can help with oral hygiene Bilateral biteblock Inexpensive Doesn’t require dental impression Removable Sheller, Barbara. "Self-Inflicted Oral Trauma: Report of Case." Special Care In Dentistry Jeong, Tae-Sung, Ji-Hyun Lee, Shin Kim, Ji-Hoon Kim, and Ruwaida G.H. Tootla. "A Preventative Approach to Oral Self-mutilation in Lesch-Nyhan Syndrome: A Case Report." Pediatric Dentistry

Oral appliances continued… Removable appliances do not work well in cases where heavy lateral jaw movements are present. Patient can move the appliance A modified bite-opening design may work well. EX: Mandibular cast-silver cap design It has acrylic bite blocks with an anterior bite opening of approximately 5mm. A combination of appliances may also work well. A mouthguard for the upper jaw and a lip bumper for the lower jaw. Mouthguard opens the bite while the lip bumper doesn’t allow the lip to be sucked in. Hallett, Kerrod B. "Neuropathological Chewing: A Dental Management Protocol and Treatment Appliances for Pediatric Patients." Special Care In Dentistry

Conclusion Everyone is different and therefore each patient should consult their health care provider and dental professional on a treatment that is best for them. New options are available and do have significant effects in reducing self mutilating behavior.

References Jeong, Tae-Sung, Ji-Hyun Lee, Shin Kim, Ji-Hoon Kim, and Ruwaida G.H. Tootla. "A Preventative Approach to Oral Self-mutilation in Lesch-Nyhan Syndrome: A Case Report." Pediatric Dentistry Leschnyhan.org www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan. htm. www.dent.ucla.edu

References Cauwels, R.G.E.C., and L.C. Martens. "Self- mutilation Behaviour in Lesch-Nyhan Syndrome." Journal of Oral Pathology and Medicine. Croglio, David, Terrence Thines, Michael Fleischer, and Patrick Anders. "Self-Inflicted Oral Trauma: Report of Case." Special Care In Dentistry Saemundsson, Sigurour, Cand Odont, and Michael Roberts. "Oral Self-Injurious Behavior in the Developmentally Disabled: Review and a Case." Journal of Dentistry For Children

References Sheller, Barbara. "Self-Inflicted Oral Trauma: Report of Case." Special Care In Dentistry Hallett, Kerrod B. "Neuropathological Chewing: A Dental Management Protocol and Treatment Appliances for Pediatric Patients." Special Care In Dentistry