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Pediatric Diagnosis Case Study Part II


Tay-Sachs Case Study
Gavin was born on March 21, 2014 to his parents Nathan and Sophia. His parents are of the
Ashkenazi Jew decent, of the Jewish faith and have one other child, Elizabeth, besides Gavin that
is three years old. Gavin, his sister, and his parents live on the outskirts, 15 miles north of
Rochester, Minnesota. Gavins mom, Sophia, works part-time at the local hotel as the front desk
receptionist and his father, Nathan is a full-time carpenter. Around six months old Gavin started
to smile less, loose head control, and was uninterested in reaching for his toys. Gavins parents
were concerned when he started to regress and loose his milestones he had already achieved, like
sitting up independently, for example. His parents brought Gavin in for a check-up and the
doctors were concerned. The doctors ran some tests and later diagnosed Gavin with Tay-Sachs
disease at the age of eight months. Gavins parents were devastated and were unaware they were
carriers of the Tay-Sachs disease. Their first child, who is now three, was tested after Gavin was
diagnosed and they found out she does not have the disease but she is a carrier.
After Gavins diagnosis, Gavin started showing more and more symptoms of this disease.
Gavins parents noticed his vision reflexes were changing. His parents brought him to an eye
doctor and they found an eye abnormality that is called a cherry-red spot and it is located on the
macula of the eye. The eye doctor said that Gavin would start to lose his vision in the next year.
Gavin was a content baby considering the rapid progression of this disease. He enjoyed being
surrounded by his family members and he liked it when his sister would play with him. Gavin
was able to drink from a bottle with few complications up until he was eleven months old. He
would get upset when it came to feeding time and he would often choke and aspirate his milk.
This led to another doctor visit which then led to the need of surgery to place a feeding tube.
Gavins parents encouraged him to try and drink from the bottle as much as he could tolerate
before putting the remaining milk into this feeding tube. The feeding tube helped Gavin get the
nutrition he needed but it required high maintenance and a set feeding schedule.
When Gavin was one year old he started to have seizures. His parents got him medication from
his doctor to help control Gavins seizures. Gavins parents felt helpless when all they could do
was make sure Gavin was safe while the seizure took its course. Once Gavins seizures got under
control Gavin started to lose his overall muscle function and had very low muscle tone. Gavin
was unable to sit independently let alone stand independently. Gavin required special equipment
and adapted chairs to provide that support for him while sitting.
Gavin was referred to skilled occupational therapy due to his diagnosis of the Tay-Sachs disease.
Gavins parents hope is that through skilled occupational therapy services Gavin will be made as
comfortable as possible for the duration of his short life. Occupational therapy professionals will
perform a home environment evaluation to determine how they can make Gavins living space
safe and functional for him. Skilled occupational therapy professionals will help facilitate
Gavins muscles for as long as they are still functioning and work on his sitting posture,

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crawling, and eventually walking skills. Skilled occupational therapist professionals will also
recommend necessary adaptive equipment for Gavin to use to enhance his quality of life.
Gavins Plan of Care
Patients Name: Gavin Smith
Referred To: Occupational Therapy
Scheduled visits per week: 1-2 days/30 minutes per visit until next evaluation
Projected Date to Terminate Services: Re-evaluation at 3 months
Goals:
Long Term Goals:
1. Pt will independently sit in an upright position while playing with toys without any
support in 3 months.
2. Pt will independently hold onto bottle while sitting in a slight upright position in 2
months.
3. Pt will crawl with stand by assist.
Short Term Goals:
1. Pt will independently hold his head up during tummy time activities for up to two
minutes.
2. Pt will sit upright with moderate support while playing with an age appropriate toy for
5 minutes.
3. Pt will tolerate being in a quadruped position for 2 minutes while playing in order to
work on core muscles and get WB through all extremities.
Treatment Activities
Activity 1: Sensory Board Tummy Time
Steps:

Make or purchase a sensory board


Have Pt lay prone on a blanket on carpeted floor
Have caregiver or therapist get down on the floor too, to make tummy time more
enjoyable for Pt
Place sensory board in front of Pt and allow Pt to explore the sensory board

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Allow Pt to play with and explore the sensory board for 5-10 minutes

Purpose: This activity will help strengthen the patients neck muscles and help increase head
control. It will also allow the sensory input and possibly introduce new textures to the Pt. It will
also help to increase the development of fine motor skills.
Materials: Sensory Board, blanket, and a carpeted floor
Activity 2: Basket Play
Steps:

Find a small basket or storage container that the Pt will comfortably fit in
Set the child in the basket and offer various toys to the Pt
Allow Pt to sit and play for around 10 minutes
Observe the Pts posture while engaging in play

Purpose: This activity will allow the Pt moderate support while sitting in the basket/container. By
placing the toys in front of the Pt will encourage bilateral coordination and crossing of the
midline.
Materials: age appropriate toys, basket/container, hard flat surface
Activity 3: Pillow crawl
Steps:

Set out at least 6 standard sized pillows in a 2 by 3 pattern on the floor


Set a fun attention grabbing toy at one end of the pillows
Have the Pt start at the opposite end and encourage him to crawl to the toy
If Pt successfully completes this activity once, have Pt do it a second time

Purpose: This activity will strengthen the Pts core, arms, and legs and assist in the development
of crawling. The pillows also provide the Pt with sensory input.
Materials: 6 standard sized pillows, flat surface, and a fun attention grabbing toy
Activity 4: Pull to stand
Steps:

Set a toy on an elevated surface


Attract Pts attention
Encourage Pt to pull to stand independently
Assist if Pt has difficulties

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Purpose: This activity will encourage the Pt to pull to stand which will lead to cruising and
eventually walking. This activity will also strengthen the Pts core, arm, and leg muscles.
Materials: elevated surface (ex: couch), flat surface, and toy
Activity 5: Oral motor activity
Steps:

Obtain some play pretend food


Practice reaching for the play food and pretend to eat it
Say mmm and lick your lips while playing with pretend food and have Pt mimic your
actions

Purpose: This activity will strengthen oral motor muscles that will help with feeding and eating.
Materials: Play food and a carpeted floor to sit on