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Tay-Sachs Disease
Overview of Diagnosis:
Tay-Sachs disease is a rare and usually fatal autosomal recessive neurodegenerative disorder
in which there is a deficiency or absence of the enzyme hexosaminidase A (Hex A) as a
result of a mutation in the Hex A gene found on chromosome 15 (Richards & Schub, 2013).
As a result of Tay-Sachs disease the nervous and pulmonary systems progressively
deteriorate. There are three forms of Tay-Sachs disease including infantile, juvenile, and
adult (Richards & Schub, 2013). In infantile Tay-Sachs disease symptoms appear around the
age of three to six months. Symptoms include eye abnormality, called a cherry-red spot that
is located on the macula of the eye, vision and hearing loss, loss of the ability to chew and
swallow, seizures, intellectual and developmental disabilities, and paralysis (Richards &
Schub, 2013). Once these symptoms are present the life expectancy after the diagnosis for
an infant is between the age of two and four years old. If an infant has Tay-Sachs they will
look like a healthy newborn baby until around the age of three to six months. After around
six months the infant will start to lose milestones that they have achieved up to the time of
the initial diagnoses. Once the child is diagnosed he or she will begin to lose muscle mass
and the muscles will deteriorate during the next and last few years of their lives. The childs
appearance will start to change. They will have little to no facial expressions, they do not
smile anymore, their eyes are sometimes halfway shut and they spend most of their time
gazing. Their face may also show signs of abnormalities and be more oval shaped and their
foreheads are often wider. Children with Tay-Sachs disease will lose their vision between the
ages of one and two. Once paralysis sets in the infant is not going to meet milestones such as
holding their bottle, lying prone on extended or flexed elbows, crawling, creeping, walking,
and running (Richards & Schub, 2013).
For juvenile Tay-Sachs disease, symptoms are present between the ages of two and ten. The
progression in juvenile Tay-Sachs disease is slower than the infantile Tay-Sachs disease. The
symptoms are similar to infantile Tay-Sachs disease and life expectancy is around two to
four years after the initial diagnosis. It is rare for an adult to get adult-onset Tay-Sachs
disease and it is usually not as harmful as the infantile and juvenile onsets. The adult-onset
usually occurs during the twenties or early thirties and these patients can live to be sixty to
eighty years of age (Richards & Schub, 2013).
Males and females are equally affected by the Tay-Sachs disease. There is not currently a
cure for Tay-Sachs disease, but there are treatments and medications that can help with
symptoms management. Tay-Sachs disease is caused by a genetic mutation and is inherited
from a persons parents. Genetic testing and counseling are recommended for couples who
are planning to have children or who are already pregnant and are at high risk for the disease
(Richards & Schub, 2013). Prenatal testing of the fetus is another option for parents who are
carriers. Another option is pre-implantation genetic diagnosis, with this process the womans
eggs are harvested for in-vitro fertilization and from there the embryo can be tested and the
healthy embryo can be selected for implantation. Spouse selection is another way to prevent
Tay-Sachs disease in the Jewish population. These possible spouses are given blood tests to
see if they have the Tay-Sachs gene or not and then they are given a six-digit personal

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identification number that they will use to see if their possible companion is a carrier
(Ainsworth, 2011). In order to get this gene both parents have to be carriers. If both parents
are carriers there is a twenty five percent chance that the child will get the disease (Richards
& Schub, 2013).
Statistics of Diagnosis:
A numerically much larger group of people affected by Tay-Sachs disease, however, are the
world's Ashkenazi Jews, those descended from the medieval Jewish communities along the
Rhine in Germany. Today Israel and the United States are home to most Ashkenazi Jews
(Ainsworth, 2011). About one in every twenty seven Jews in the United States is a carrier of
the Tay-Sachs disease. One in 320,000 newborns are born with Tay-Sachs in the general
population of the United States. About one in 4,000 births among Ashkenazi Jews are born
with Tay-Sachs disease. This disease is also prevalent among French Canadians, and the
Cajun population in the United States.
Role of Occupational Therapy in Treatment of Diagnosis:
Providing good, supportive care and treating the symptoms as they arise is the only way to
treat Tay-Sachs; there is no way to treat the disease itself (Davidson, 2006). Occupational
Therapists would help treat vision loss, difficulties with chewing and swallowing, seizures,
intellectual and developmental disabilities, and paralysis. For the loss of vision occupational
therapists would modify the patients environment by contrasting colors around the patients
house so they can see where different objects are located, remove any possible hazards,
mark buttons or switches with raised up puffy paint, and place safety pins on clothing and
create a color coordinated system. For vision there is also adaptive equipment available
including magnifying computer programs that can be used for reading, clipping finger nails,
doing schoolwork and work tasks. Occupational therapists could also recommend using
different utensils, plates, and cups to make it easier for the individual to eat independently.
For difficulties with chewing and swallowing occupational therapists can treat obvious
motor deficits, teach the patient how to properly use utensils and facilitate the patients
posture. When occupational therapists look at posture they make sure the patient is sitting
upright and that the pelvis is in a slight anterior pelvic tilt. If the patient cannot sit upright on
his or her own and are in a wheelchair, occupational therapists will make sure the wheelchair
fits the individual properly and that it can be adjusted so the patient can sit up and do various
activities (Nath, 2014).
Occupational therapy can help with seizures by making the patients environment safe.
Some ways a kitchen can be adapted are to cook with a microwave verses a stove that could
have an open flame, carpet the kitchen floor and use plastic containers rather than glass.
Some adaptations for the bathroom may include installing a temperature controlling device,
carpet the bathroom floor and make sure the bathroom door is not locked. Occupational
therapists can give advice to people on how to create a safe environment and help them
adapt to any possible risky areas in the home and also by ensuring the patient is safe when
they leave their home. When the patient leaves their home make sure they have a card with
them that states their name, address and phone number so that contact to the patients family

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can be made efficiently. It is also important for patients to be taught relaxation techniques
such as deep breathing, massage and meditation. These relaxation techniques will help
reduce stress that could possibly cause a seizure. Occupational therapists can also make
organized schedule boards to allow the patient to have daily routines that flow and do not
cause extra turbulence and stress (Sheikh, 2012).
Occupational therapists can treat patients with intellectual and developmental disabilities by
adapting their environments so that they can participate in all occupational performance
areas. These occupational performance areas include activities of daily living, instrumental
activities of dialing living, play, work, leisure, education, sleep and social participation.
Occupational therapists may recommend different assistive devices for their patients. These
assistive devices may include touch screen devices, motorized wheelchairs and voice output
devices. Assistive devices should reflect the patients personal abilities, areas of interests,
wants, and specific limitations (Yalon-Chamovitz, S., Selanikyo, E., & Artzi, N., et al.,
2010).
Occupational therapists play a significant role in the treatment of paralysis. Occupational
therapists will help individuals learn or relearn daily activities that they need for
independence. Occupational therapy will help the individual with paralysis increase strength
and functional mobility, provide optimal positioning positions and provide referrals to
resources in their community. They will offer treatment programs to help with dressing,
bathing, engaging in arts and crafts of choice and any other activities of interest to the
patient. Occupational therapists will also do home evaluations and make recommendations
for possible adaptations that can be made at home to ensure safety and independence
(Welke, 2014).
Occupational therapists will educate and support the family members and caregivers of
individuals with Tay-Sachs disease. Occupational therapists will teach the family and
caregivers different techniques for dealing with the changes that come along with this
disease. These techniques may be on feeding, dressing, toileting, bathing, eating and
hygiene. Occupational therapists will also make sure that the caregivers get care too so that
they can then give optimal care to the patient with Tay-Sachs.

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References
Ainsworth, S., (2011). Tay-Sachs disease -- a triumph from disaster. Practice Nurse, 41(3),
31- 32.
Davidson, T., (2006). Tay-Sachs Disease. Gale Encyclopedia of Childrens Heath: Infancy
through Adolescence.
Nath, S., (2014). Feeding Problems in Children with Autism. Retrieved from
http://www.iancommunity.org/ssc/feeding-problems-children-autism
Richards, S., & Schub, T. (2013). Tay-Sachs Disease. CINAHL Plus with Full Text,
EBSCOhost.
Sargeant, T. J., Drage, D. J., Wang, S., Apostolakis, A. A., Cox, T. M., & Cachn-Gonzlez,
M. (2012). Characterization of Inducible Models of Tay-Sachs and Related
Disease. Plos Genetics, 8(9), 1-15. doi:10.1371/journal.pgen.1002943
Sheikh, S., (2012). Epilepsy: Definition, Prevention and Role of Occupational Therapy
[PowerPoint slides]. Retrieved from
http://www.slideshare.net/betrayer1990/occupational-therapy-for-epilepsy-anoverview
Welke, K., (2014). Spinal Cord Injury. [PowerPoint slides]
Yalon-Chamovitz, S., Selanikyo, E., & Artzi, N., et al. (2010). Occupational Therapy and
Intellecutal and Developmental Disability Throughout the Life Cycle: Position Paper.
The Israeli Journal of Occupational Therapy. 19 (1)