1. Lesch Nyhan Syndrome and Self-Injurious Behavior
Alexa Pereira

2. 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

3. 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.

4. 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

5. 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

6. 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.

7. Example of self mutilated lip

8. 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!

9. 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

10. 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

11. Management of self injurious behavior

12. 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

13. 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

14. 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

15. 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

16. 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.

17. 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
htm.

18. 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

19. 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