LESCH- NYHAN PEPSI 1

PEPSI Screening
Nathalie Cervantes
Edu 220-1001

INTRODUCTION

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Many teachers encounter students from different walks of life that each bring
about a different experience. Each unique student also serves to test a teacher's ability
to handle diversity. The students that pose the biggest test to teachers are those with
different disabilities. Students with disabilities force a teacher to utilize each aspect of
their training and education to come up with a plan to best provide an educational
atmosphere for the child with the disability. However, it is children with rare disabilities
that truly force a teacher to not only utilize their experience and education, but also
their resources to identify what will best serve the educational needs of the student.
Rare disabilities need to be researched along with the physical, emotional,
philosophical, social, and intellectual developments in order to properly educate the
student. The following case study will analyze each area of development for a student
with the rare syndrome known as Lesch Nyhan Syndrome. This student in this case
study is a 14 year old, Hispanic, male in the 8th grade. For identification purposes, the
student will be referred to as Radio. Radio is approximately 5'4" and weighs 95 pounds.
He has had all of his teeth surgically removed due to self-mutilation of lips and fingers.
This is common with Lesch-Nyhan Syndrome and will be discussed in a later section.
Radio is non-mobile and in a wheelchair. His arms and legs are Kept in restraints as
per doctor order and strapped into the wheelchair at all times for his own protection. He
also wears a helmet during transitions and a surgical face mask at all times to prevent
him from spitting on other people.
PHYSICAL DEVELOPMENT
Lesch-Nyhan Syndrome (LNS) is extremely rare for example, "in a country the
size of the United Kingdom, population 56 million, only 4 new cases will occur each
year." (McCarthy, 2004) LNS is a deficit of the "enzyme of purine metabolism

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Hypoxanthine-Guanine Phosphoribosyl Transferase (HPRT)." (McCarthy, 2004) The
deficit causes neurological damage that result in a variety of issues. LNS also occurs in
males because the it is an "X chromosome linked recessive disorder" (Nyhan et al,
1967). Although it occurs in males, "transmission always occurred through the female"
(Nyhan, 2004). "In the baby, the clinical signs are developmental delay, hypotonia,
irritability, feeding difficulties and 'sand' or orange crystals in the diaper." (McCarthy,
2004) As the child gets older, some symptoms include crying and self-mutilating of the
lips and fingers through biting. Initially some children may be misdiagnosed with
cerebral palsy because of developmental delays. "Persons with LND wear restraints
and other protective devices most of the time, invariably suffer from severe motor
abnormalities, and sometimes receive anxiolytic or other medications to reduce their
risk of self-injury" (David, 2005). As they get older, patients also have issues
maintaining an appropriate weight due to vitamin deficiencies. Patients also have spinal
cord degeneration. They are unable to "walk or even sit without support" (Nyhan,
2004). Patients with LND often have renal failure, are prone to kidney stones, and loss
of bowel function. The child also experiences excessive muscle tension that leads to
spontaneous spams. Those same muscle spasms debilitate their speech muscles and
other muscles that are essential for digestion. Many patients also have problems
sleeping and can develop sleep apnoea. As they grow into puberty the HPRT
deficiency causes their testes to decrease in size and lose function, known as testicular
atrophy. In addition to testicular atrophy, many LNS patients may also experience
severe acid reflux and hernias. The life expectancy of LND patients is in the mid-forties,
however many die prior to that age because of other complications such as renal failure
and "respiratory failure." (McCarthy, 2004) Additionally, patients may also have

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complication from severe acid reflux and vomiting. Some may even die from
accidentally swallowing vomit.
Radio does show some of the physical attributes of Lesch-Nyhan Syndrome.
Radio is constantly having muscle spasms as because of that is kept strapped into his
wheelchair at all times. He also has to eat pureed food because he has no teeth. He
has a limited vocabulary and can typically say words that are one syllable. When
changing his soiled diapers, occasionally crystals can be spotted. Radio also cries
frequently. The charts on page eleven compare Radio's height and weight to that of an
average 14-year-old boy. All data was gathered from the Centers for Disease and
Control Prevention published in 2000.
EMOTIONAL/BEHAVIORAL DEVELOPMENT
Parents of children with or without disabilities are curious as to what to expect in the
behavioral and emotional development of their child. Parents of children with
disabilities
become far more curious because they must plan for the care of their child far beyond
the child reaching an adult age. "Mental retardation of severe degree is considered in
nearly all published reports to be the cardinal feature of the Lesch-Nyhan syndrome"
(Scherzer, 1969). In addition to mental retardation, patients also experience significant
emotional and behavioral developmental consequences. Lesch-Nyhan Syndrome is a
metabolism disorder; however "this was the first example of a well-defined disorder of
metabolism in which there was a recognizable pattern of abnormal behavior." (Nyhan
2004) One of the major concerns for LNS patients is that they inflict self-harm and selfmutilation. This type of behavior "occurs in 85% of cases... [and] can start at any time,
on average at 3 years." (McCarthy, 2004) Some of the self-inflicted harm can include

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severe biting of the lips and fingers. This type of behavior is also "compulsive and
distressing and appears to be biologically driven." (McCarthy, 2004) Some of this
distressing behavior can be managed by using good communication, relaxation
techniques and consistent caretaker relationships. Patients with LNS respond better
when the people who they are used to
being taken care of are consistent not only with their expectations and the way they
treat the child but also the people are consistent and there are no frequent changes in
who is taking care of them. According to McCarthy, a study done in 2003 revealed that
biting of the lips and fingers was the most common self-mutilation at approximately
53%. However, "48% had oral or facial damage, 25% damage to the hands, and 42%
had some or all of their teeth removed." (McCarthy,2004) The harm and injury these
patients experience is not only on themselves, they are also prone to injure others
around them, however they do not enjoy this. Many LNS patients are severely
depressed and should be medicated. In addition to depression, LNS patients also show
signs of stress. Their speech impediments and spasms are stress induced.
Although Radio can communicate some things, he is considered non-verbal. He
may only speak limited single-syllable words and has a hard time remembering things.
You can clearly tell when he is happy or sad. He cries often and you can tell he is sad
when he does. At times when Radio is upset, you can tell what triggered the emotion,
however he often cries for no obvious reason. He is able to recognize the need to
respond with appropriate terms for personal care such as indicating his diaper needing
to be changed, responding when someone sneezes with "Bless you" or saying "Excuse
me" following a burp. Radio also has a personality similar to that of a fourteen-year-old
boy with no developmental syndromes. For example, Radio is particularly attracted to

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females, if his arms are not fully strapped down and a female walks past him, he will
touch her buttocks. He will only do this with females. When he does this, he typically
smiles and does not show any signs of it being an uncontrollable spasm. Radio also
openly and distinctly expresses which caretakers he is partial to. When Mr. Bonnet,
commonly known as Coach Mo, walks into the room Radio immediately recognizes him
and starts repeatedly calling out to him saying, "Mo!" He continues to do this until Mr.
Bonnet greets him. Radio currently has a vocabulary of 100 words as determined by
direct observation. Information in the following chart was gathered from McGraw Hill,
HigherEd.
Radio has his pleasant moments when he is happy; he also shows signs of
depression as stated above with the frequent crying. He also inflicts self-harm upon
himself and has to be securely strapped at all times. He has arm and leg restraints as
well as a seatbelt on his wheel chair. When the class is practicing motor exercises on
the mat, he is also strapped to the mat. The most significant behavior that Radio
exhibits is his muscle spasm. Knowing that muscle spasms are stress induced can be a
great tool to educators. For one, educators and support staff can work together to be
properly trained on relaxation techniques to use in order to help Radio stay calm.
Identifying and avoiding situations that cause Radio stress can also be helpful. In
addition to avoiding stressful situations, knowing when a situation will cause Radio
stress and proactively working on relaxation techniques around the time those
situations arise can minimize unavoidable stress. With respect to Radio's inappropriate
behavior towards females, making sure that his arms are properly restrained when a
female is nearby could be helpful. Research indicates that LNS patients should be
encouraged to use natural restraints such as sitting on their arms or hands. Training

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Radio on this can be beneficial as it allows him to develop a new set of behaviors and
begin to learn self-control.
PHILOSOPHICAL/MORAL DEVELOPMENT
LNS patients have significant developmental impediments but also have areas in
which they can develop quite well. Although LNS patients each exhibit a multitude of
behaviors that some would consider inappropriate or reckless, many of the behaviors
they exhibit are uncontrollable but not without remorse. They understand that while they
cannot control their behaviors, their behaviors are unacceptable. "Many psychologists
think that in children, the seeds of moral values are emotional, not intellectual"
(Kantrowitz & Namuth, 1991). Children with LNS can clearly demonstrate emotions
such as happiness, sadness, excitement, etc. Their emotional development aids their
development with moral values. Moral values do not only include a sense of what is
acceptable and what is not, but also how they will act towards and with others. LNS
patients clearly know right from wrong. The same way that an LNS patient would hurt
his or her-self, they would also hurt another. However, their mobility is impaired and the
impact is not as great. "When the child is successful in hurting another, he displays
considerable remorse, just as he does when he succeeds in hurting himself. These
patients are compulsively driven to behave in ways that they do not at all enjoy"
(Nyhan, 2004).
Radio clearly exhibits a sense of right and wrong. When he performs an act,
which is unacceptable such as inappropriately touching a female, he understands that
the behavior is inappropriate. When Radio touches a girl's buttocks, he will not make
eye contact, he blushes, and smiles.. Radio also spits frequently. He has to wear a
surgical facemask at all times to prevent from spitting on other people. When he spits

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on others, staff tries to redirect him to blow kisses. When he spits on someone else and
staff says no, he immediately begins to blow kisses and shows signs of remorse. In the
same fashion when he touches a female's buttocks and is told no, he will also begin to
blow kisses. Radio clearly understands what is appropriate and what is not. Using a
method of redirection with Radio is definitely effective. Because staff is consistent with
expressing what is appropriate and what is not and asks that Radio blow kisses
instead, he also knows what to expect. The challenge with Radio is not his lack of
moral knowledge, but getting him to make better moral choices. It is good that he
recognizes what is right and wrong when he does something inappropriate, however
staff is currently trying to work with Radio so that he learns not to do the undesired
behavior. Staff uses positive reinforcement and redirection to encourage this in Radio.
SOCIAL DEVELOPMENT
LNS patients not only have developmental barriers but those same barriers can
lead to other difficulties. LNS patients have a severe lack of motor skills. They have
little to no muscles in their mouth and can say very few and limited words. The limited
words that they do know come across with a "slurring of speech sounds" (Nyhan,
2004). As a result, they are unable to communicate on a regular basis with others.
Because LNS also causes self-mutilation and harm, patients are restrained at all times.
Even in an environment where social interaction would be encouraged, patients with
LNS would be unable to participate with others as they cannot be left unrestrained. The
"LN[S] behavioral phenotype extends beyond self-injury to include aggression and
other behavioral abnormalities" (David, 2005). As they get upset easily, they may also
lash out and act aggressively towards others easily. From moral development also
comes the notion of "learning how to interact" (Boulton-Lewis et al, 2011). This means

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that patients with LNS must learn to interact with others even though they may not
necessarily have significant contact with other people. The people who are used to
interacting with LNS patients are aware of their own unique personalities. "Patients with
LN[S] have been described as engaging, curious, good humored,manipulative,
obstinate, irritable, apologetic, and distractible" (David, 2005).
Currently, Radio is in a self-contained classroom. While there are other students
in the classroom, Radio does not get to play and socialize with other children. He is
constantly restrained and has limited speech and as a result cannot hold a
conversation with others. He also has frequent and uncontrollable muscle spasms and
outbursts of injury towards himself and others. Radio, if left unrestrained, will hit others.
Radio also constantly spits. Holding any sort of social interaction with people other than
the ones who are accustomed to interacting and working with him is highly difficult.
When Radio does interact with new people he shows excitement. Average children, are
able to freely interact with a multitude of peers in a variety of scenarios, it is important
to bring that element to children with Lesch-Nyhan Syndrome.
INTELLECTUAL/ACADEMIC DEVELOPMENT
There are several stages to literacy and they include the "pre-reading, or Stage
0 (ages birth to 6 years and prior to first grade), refers to emergent literacy during
which students are exposed to print, learn graphemes, and memorize labels and signs
in the environment" (Skebo etal, 2013). By the time a normal child reaches "Stage 3
(ages 10-12 years; fourth through eighth grades), incorporates the transition from
learning to read to reading to learn. In this stage, students are able to use reading as a
tool for learning new information" (Skebo et al, 2013). Achild with LNS is unable to read
at the appropriate level for his or her age range. They do not have the cognitive

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function or the muscle strength to formulate words. Patients with LNS have "impairment
of temporal lobe orientation and recognition memory, severe impairment of auditory
divided attention and free recall on word list learning and moderately severe
impairment on tests of reasoning and intelligence" (McCarthy, 2004). Patients with LNS
as a result have a short attention span, have difficulty learning vocabulary words, and
may have trouble with their memory.
Radio shows significant developmental delays in his intelligence. Radio is
approximately at a Stage 0 in literacy. He is unable to read and comprehend books.
Many of the stories told to Radio focus on building his vocabulary with small words and
include mostly pictures. Many times, it can be difficult to continue to expand his
vocabulary as he has a short attention span. As a tool, an iPad is used. With the iPad,
Radio's attention span seems to improve slightly. Although his attention span improves
he has difficulty maneuvering on the iPad, but does enjoy it. The iPad is utilized to
encourage Radio to draw shapes and refine his sensory motor skills. Staff engages
Radio with flash cards to test his knowledge on vocabulary. Staff also utilizes flash
cards to communicate with Radio. He has flash cards for when he likes something or
does not. If staff is unable to tell what Radio is feeling they may ask him, "Do you feel
bad?" while holding up a flashcard with a sad face. If Radio is not feeling well, he will
say yes. If something else is bothering him, he will say no. A challenge that is
constantly present for staff is that Radio has a severe and rare developmental
syndrome. Staff could be more proactive about educating Radio instead of simply
watching over him. Staff at times can be complacent and can seem to focus on making
sure that Radio spends his time at school entertained and in a pleasant mood. If he is
feeling tired or is uncooperative, they tend to not push him too much and not work on

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his word list or other educational needs. For long term sustainability with Radio's
educational development, it would be best to work on a routine of education daily.
PHYSICAL DEVELOPMENT GRAPH

EMOTIONAL/BEHAVIORAL DEVELOPMENT GRAPH

RECOMMENDATIONS/ CONCLUSION

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Recommendations for Physical development ensure that the child receive
anxiolytic or other medications to reduce their risk of self-injury. Recommendation for
his Emotional and Behavioral development Parents should avoid stressful situations,
they should know when a situation will cause Radio stress and proactively working on
relaxation techniques around the time those situations arise can minimize unavoidable
stress.Recommendation for Philosophical and Moral Development the parents and the
teacher is to use the redirection method.In order to improve his Social Development
recommendation for his development is working in partnership with traditional students
and having them read a story to Radio so that he has interaction with other children
and it is in a controlled environment. Recommendation for the patients Intellectual and
Academical Development is for the parent and teacher to focus on building the patients
vocabulary with small words and include pictures.
Overall, Lesch-Nyhan Syndrome is an extremely rare developmental disease
that impact several aspects of a child's development. It impacts primarily the purine
metabolism in a patient, however can lead to renal failure, respiratory failure, severe
acid reflux, uncontrollable muscle spasms, self-mutilation and harm, and severe mental
retardation. Patients with LNS die at young ages although they are expected to live into
their forties. Their quality of life is limited as they spend most of their time restrained.
For several patients, self-mutilation is common. They are kept restrained into their
wheelchairs or beds at all times. Although they do inflict harm on themselves and
others, they do not want to but they cannot control themselves. They are also unable to
properly communicate and have limited vocabulary and speech. Even with all of their
delays, LNS patients seem to have a strong sense of emotions. They also suffer from
depression and cry out often.

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The case study done on Radio, a 14 year old male with LNS, revealed that his
development was consistent what that of a typical LNS patient but below that of an
average student. Although he has developmental delays, he has clear and distinct likes
and dislikes. The team that works with him on a regular basis is aware of his needs and
could implement some minor changes that would benefit the development of Radio.

REFERENCES

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Boulton-Lewis, G., Brownlee, J., Walker, S., Cobb-Moore, C., & Johansson, E. (2011).
Moral and social development: Teachers' knowledge of children's learning and
teaching strategies in the early years. Australasian Journal Of Early Childhood,
36(4), 6-14.
David J, S., Julianna, W., Stephen M, M., Jonathan, Y., Juan G, P., William L, N., & ...
James C, H. (2005). Behavioral aspects of LeschNyhan disease and its
variants. Developmental Medicine & Child Neurology, 47(10), 673-677.
Kantrowitz, B. B., & Namuth, T. T. (1991). The good, the bad, and the difference. (Cover
story). Newsweek, 11 7(22), 48.
McCarthy, G. (2004). Medical Diagnosis, Management and Treatment of Lesch Nyhan
Disease.Nucleosides, Nucleotides & Nucleic Acids, 23(8/9), 1147-1152.
doi:10.1081/NCN-200027395.
Nyhan, W. (2005). Lesch-Nyhan Disease. Journal Of The History Of The
Neurosciences, 14(1), 1-10. doi:10.1080/096470490512490.
Nyhan, W. L. (2008). Lesch-Nyhan Disease. Nucleosides, Nucleotides & Nucleic Acids,
27(6/7), 559-563. doi:10.1080/15257770802135745.
Scherzer, A. L., & Ilson, J. B. (1969). Normal Intelligence in the Lesch-Nyhan
Syndrome.
Pediatrics, 44(1), 116.
Skebo, C. M., Lewis, B. A., Freebairn, L. A., Tag, J., Ciesla, A., Stein, C. M., & ...
Marinellie, S.(2013). Reading Skills of Students With Speech Sound Disorders
at Three Stages of Literacy Development. Language, Speech & Hearing
Services In Schools, 44(4), 360-373. doi:10.1044/0161-1461(2013/12-0015)

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Stall, J. N., Hawley, D. A., Hagen, M. C., Bull, M. J., & Hattab, E. M. (2010). Posterior
column degeneration in the cervical/thoracic spinal cord in Lesch-Nyhan
syndrome (LNS): a casereport Scientific correspondence Scientific
correspondence. Neuropathology & Applied Neurobiology, 36(7), 680-684.
doi:10.1111/.1365-2990.2010.01125.x