SEPTEMBER 14TH, 2017
TUBEROUS SCLEROSIS
SARAH KUISMI
(Children Neurology Foundation, 2017)
Symptoms of Tuberous Sclerosis
WHAT IS IT?
DEFINITION
According to Tuberous Sclerosis Alliance (2017) Tuberous
Sclerosis Complex or TSC, is a rare genetic disorder that
causes benign tumors to form in common organs of the
body. They documented that organs most often affected
include: brain, eyes, kidneys, skin and lungs. This disorder
is often associated with developmental delays,
intellectual disabilities, and Autism Spectrum Disorder
(Tuberous Sclerosis Alliance, 2017). Mayo Clinic (2017)
stated that these tumors, depending on their place in the
body and size, can have a greater effect. Tumors can
restrict blood flow, cause cardiac issues and can block
areas of vision, all of which disrupt normal function in
daily life (Mayo Clinic, 2017).
CAUSES & RISK FACTORS
Mayo Clinic (2017) concluded that
children have a 50% chance of inheriting
the disorder if one of the parents has
Tuberous Sclerosis. They further discussed
other factors influencing the development
of the disorder include new mutations of
disorder carrying genes, TSC1 and TSC2.
They found these genes normally prevent
cells from growing too fast (Mayo Clinic,
2017).
PROGRESSION & SYMPTOMS
Mayo Clinic (2017) noted symptoms of
Tuberous Sclerosis depend upon where
the non-cancerous or benign tumors are
inside the body. Common symptoms
range from skin abnormalities, seizures,
developmental delays, behavioral
problems, communication and social
interaction problems as well as kidney,
lung, heart and eye issues as a result of
the tumors (Mayo Clinic, 2017). Tuberous
Sclerosis Alliance reports most people
diagnosed with TSC can live independently
and participate in all daily occupations.
They further reported, in others, there is a
strong impact on the individual’s quality of
life despite TSC having no cure, an
individual can live a normal life span
(Tuberous Sclerosis Alliance, 2017).
Though their quality of life is impaired,
Individuals can seek treatment by using
medication, early interventions,
controlling seizures, occupational and
psychological therapy, and surgery (Mayo
Clinic, 2017).
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 STATISTICS
 According to Tuberous Sclerosis
Complex International (2013) TSC
is the #1 genetic cause of epilepsy
and Autism.
 TSC is more common than Lou
Gehrig’s Disease (Tuberous
Sclerosis Complex International,
2013).
 Mayo Clinic (2017) found TSC
affects more than 1 million people
world-wide, 50,000 of which are in
the U.S.
(Genetics 4 Medics, 2017) Genes affected by  One in every 6,000 Births is a child
Tuberous Sclerosis born with TSC (Mayo Clinic, 2017).
 Tuberous Sclerosis Complex
International concluded seizures
ROLE OF OCCUPATIONAL THERAPY occur in 85% of those with TSC.
The role of occupational therapy in Tuberous Sclerosis is
 TSC affects everyone differently
lacking research. However, the occupational therapy
(Tuberous Sclerosis Alliance,
practitioner can intervene with symptoms such as
2017).
seizures and the lingering effects of brain tumors.
 TSC International determined 45-
Occupational therapy practitioners intervene with aid in
60% have intellectual disabilities.
occupations, especially activities of daily living (ADL’s)
 Every 20 minutes a child with
such as dressing and social participation. These areas can
Tuberous Sclerosis is born
be addresses by practitioners through the use of
(Tuberous Sclerosis Complex
adaptive equipment or education of public
International, 2017).
transportation. Demers, Gelinas and Carret (2016) found
that involving the child in the evaluation process can be  TSC International argued 80% of
the most beneficial to the child in classifying any deficits. those diagnosed with TSC
Identifying the deficits in a child’s daily life is crucial in experience kidney problems, 90%
order to improve the child’s quality of life (Demers, will develop dental pits and over
Gélinas & Carret, 2016). Fayed and Kerr (2009) found 95% of people will experience skin
that similar issues were further inhibited by seizures the lesions.
children diagnosed with Tuberous Sclerosis experience.  No symptoms are the same
Occupational therapists used the COPM to identify areas between two people (Mayo Clinic,
of deficit within these children (Fayed & Kerr, 2009). 2017).
Furthermore, children can benefit from occupational  It is impossible to predict the
therapy intervention in all areas of occupation. These severity of symptoms in an
interventions can range from preventative methods to individual (Tuberous Sclerosis
re-education of neuropathways to engage ADL’s , social Alliance, 2017).
participation and otherdesired occupations. References upon request

References:
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Children Neurology Foundation. (2017). Tuberous Sclerosis Complex. Retrieved September 26, 2017,
from http://www.childneurologyfoundation.org/disorders/tuberous-sclerosis-complexDemers,
C., Gélinas, I., & Carret, A. (2016). Activities of daily living in survivors of childhood brain
tumor. The American Journal of Occupational Therapy, 70(1), 1-8.
doi:http://dx.doi.org.nctproxy.mnpals.net/10.5014/ajot.2016.014993
Fayed, N., & Kerr, E. N. (2009). Identifying occupational issues among children with intractable
epilepsy: Individualized versus norm-referenced approaches. The Canadian Journal of
Occupational Therapy, 76(2), 90-7. Retrieved from
http://nctproxy.mnpals.net/login?url=https://search-proquest-
com.nctproxy.mnpals.net/docview/212945768?accountid=40780
Genetics 4 Medics. (2017, April 23). Tuberous Sclerosis. Retrieved September 26, 2017, from
http://genetics4medics.com/tuberous-sclerosis.html Mayo Clinic. (2017). Tuberous Sclerosis.
Retrieved from http://www.sclerosituberosa.org/home
Tuberous Sclerosis Alliance. (2017). What is Tuberous Sclerosis Complex? Retrieved from
http://www.tsalliance.org/about-tsc/how-is-tsc-diagnosed/
Tuberous Sclerosis Complex International. (2013). 2017 Worldwide Events. Retrieved from
http://www.tscinternational.org/pages.aspx?content=11