Lesch-Nyhan Syndrome
Figure 1: Inheritance pattern of LNS
When and how does it manifest?
Lesch-Nyahn is generally presented before six months of age, but the symptoms are chronic and will gradually present themselves through the child’s lifetime. The most predominant feature of LSN, presented almost 85% of cases, is self-mutilation (Nyhan, 2014). This symptom will likely present itself around the age of two and three years. It can also develop in infancy or later in childhood. This mutilation will often involve biting of the lips, fingers/hands, and repetitive banging of the head against hard objects. Other Symptoms include mild-moderate cognitive disability, renal failure, severe muscle spasms, and kidney stones.
Instructional Strategies/Tips
1) Some cases of LSN may have no cognitive disability and only physical disabilities and will be able to comprehend a normal curriculum and will only need a scribe.
2) Even if no cognitive symptoms are present, it is still possible that the student may have an outburst of self-mutilation. These outbursts have triggers such as frustration, and if the student has some sort of object, like a pillow, that they can take their frustration out on might prevent them from hurting themselves.
3) Some accommodations or modifications such as assignments on computers would allow the student to still participate in activities. In some cases, simply covering the child’s arm with a sock will stop them from trying to injure it.
Useful Websites
(1) https://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndrome
This website provides general overall information on LSN from a medical standpoint
(2) https://www.lesch-nyhan.eu/upload_documenti/5_LIFE%20EXPERIENCE.pdf
Although it isn’t a website, it is a case of a young boy with LNS and his experiences in school.
(3) https://www.newyorker.com/magazine/2007/08/13/an-error-in-the-code
This is an article about first recorded diagnosis of LNS as well as the current improvement on this syndrome.
This article covers an interview with the parents of a child with LNS, and some of the interesting methods they use to help their child.
(5) http://www.lesch-nyhan.eu/upload_libri_allegati/6_(im)possible%20life.pdf
Again, not a website, but a pdf of a short book about a mother her has a child with LNS. It is 45 pages and all of it truly goes in depth about the mother’s day-to-day life. Everything that there is to be said about the social effects of LNS can be found in this book.
This research showed a specific case of LSN in a young boy. This research also touches on the overall causes and symptoms of LSN.
This is a case study of a 1-year-old presenting the common self-mutilation symptom of Lesch-Nyhan (3) (3)http://ezproxy.lewisu.edu/login?url=http://search.ebscohost.com/login.aspx?direct=true&db=a9h&AN=26845948&site=ehost-live&scope=site
This is a case study of an individual who did not present any renal or self-mutilation symptoms.
Other Tips/Information
Individuals with LSN do not have any pain insensitivity, so the pain they induce is felt in full to them.
It is possible that an individual with LSN has no cognitive disability present, and if it is, it is only mild-moderate.
References
(1) Nyhan, William L, et al. “Lesch-Nyhan Syndrome.” GeneReviews® [Internet]., U.S. National Library of Medicine, 15 May 2014, www.ncbi.nlm.nih.gov/books/NBK1149/.
(2) Mohapatra, Satyakam; Sahoo, Alok “Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome.: EBSCOhost." 2016 Web. 28 Mar. 2018.
(3) Schiaffino, Alessandra. “LIFE EXPERIENCES: A BOY WITH LESCH-NYHAN SYNDROME AT SCHOOL" Lesch-nyhan.eu. 25 Jan. 2012. Web. 28 Mar. 2018. https://www.lesch-nyhan.eu/upload_documenti/5_LIFE%20EXPERIENCE.pdf
(4) Gupta, Mrinal, et al. "Lesch-Nyhan Syndrome: A Rare Disorder of Self-Mutilating Behavior." Our Dermatology Online / Nasza Dermatologia Online, vol. 5, no. 1, Jan. 2014, pp. 65-67. EBSCOhost, doi:10.7241/ourd.20141.17.
(5) Levart, Tanja Kersnik. "Rare Variant of Lesch–Nyhan Syndrome without Self-Mutilation or Nephrolithiasis." Pediatric Nephrology, vol. 22, no. 11, Nov. 2007, pp. 1975-1978. EBSCOhost, doi:10.1007/s00467-007-0566-3.
What is it?
Lesch-Nyhan Syndrome (LNS), also known as juvenile gout, is a rare inherited disorder that has both behavioral and neurological impacts, and typically is fatal by the first or second decade of life (Nyhan, 2014). LNS is almost exclusively found in males. This occurs due to the mode of its inheritance. LNS is inherited in an X-linked recessive manner (Nyhan, 2014). This means that the disorder is passed down through the X sex chromosome. Typically for a recessive disorder, both parents are required to have it in order for the kid to inherit it, but since it is X-linked, and males only have one X chromosome, males only need the mother to carry the disorder for them to have a 50% chance to inherit and express this disorder (shown visually in Figure 1)
