Ehlers-Danlos Syndrome

Overview of Diagnosis:
Ehlers-Danlos Syndrome (EDS) is a genetically and clinically heterogeneous group of inherited
connective tissue disorders characterized by hypermobility of the joints as well as
hyperextensibility and fragility of the skin (Gjunta. PH.D. et al., 1999). This diagnosis has six
different subtypes; classic, hypermobility, vascular, kyphoscoliosis, arthrochalasia and
dermatosparaxis. There are a few types of EDS that are considered the other types, because
they are so rare and not well defined. These types are known as V, VIII, IX, X, and XI (Gjunta.
PH.D. et al., 1999).
The classic type shows diagnosis criteria of skin hyper extensibility, widened atrophic scars, and
joint hypermobility. This type causes easy bruising to the skin and makes healing very
problematic for patients when they have an open wound. Occupational Therapy can do some
wound management techniques; such as proper cushions on wheelchairs when the patient is
sitting too much. Occupational Therapy will then contact nursing for an assessment on the
wound. Patients will also be prone to hip dislocations that can cause delays in development.
Occupational therapy can work on pain management and adaptive equipment with a patient
when dealing with a hip dislocation. The hypermobility type is one of the most common types of
EDS; this type causes chronic joint pain and loose, unstable joints. Vascular type is the most
severe form of EDS. Patients diagnosed with this type acquire a very high chance of blood
vessels and organs on the inside of the body rupturing. This type also causes loose joints,
specifically in the fingers and toes. The kyphoscoliosis type is the most uncommon of EDS, this
leads to scoliosis of the spine, which OT would work on postural control techniques. People
with kyphoscoliosis have very fragile and easily damaged eyes. Arthrochalasia type is a very rare
condition. This type can cause the patient to experience dislocations of both hips, which can
cause a delay in motor skills. Occupational Therapy can assess the coordination, strength, and
energy levels of the patient with delays in motor skills. Skin gets very stretchy and is very prone
to bruising. Most people with this type experience early-onset arthritis and have an increased risk
of bone loss and fractures. Occupational Therapy can help with adaptive equipment, and work
simplification techniques for arthritis treatment. Bone-loss and fractures are mainly treated in OT
by splinting. The dermatosparaxis type is also very rare and leads to extremely fragile, sagging
skin.
Prognosis depends on which type of EDS specified. There are eleven different sub-types to this
diagnosis which show different levels of complications however, some are less severe than
others. For example; an individual with vascular type is more severe than an individual with
dermatosparaxis type. Most patients with EDS will have a normal lifespan. There is no cure at
this time however; there is many ways to treat this disorder.
Ehlers-Danlos Syndrome can affect anyone who has some sort of genetic link within his/her
family. This disease is something patients are born with. The most efficient way to find out if
someone has this diagnosis is to complete a good physical exam with a detailed family history
background. Other ways to determine a diagnosis would be DNA tests, urine tests, skin biopsy,
and a heart ultrasound.
Statistics of Diagnosis:

The classical and hypermobile type account for more than 90% of cases,(Hagberg et al.,2004)
but it is not established which is most common (Proske et al.,2006). The vascular type is the
third-most common and may affect 1 in 250,000 people worldwide. The kyphoscoliosis,
arthrochalasia, and dermatosparaxis types are rare (Hagberg et al.,2004). Approximately 30 cases
of the arthrochalasia type, 60 cases of kyphoscoliosis type, and 12 cases of the dermatosparaxis
types have been reported worldwide. The hypermobility type is associated with the most
debilitating musculoskeletal manifestations,(Stanitski et al., 2000) and joint pain is reported by
100% of patients (Rombaut et al. 2010). In an evaluation of patients with hypermobile and
classical EDS, 52% of patients had scoliosis (Stanitski et al., 2000). Curves were minimal to
moderate, and no patient had a curve >50 degrees. Substantial back or neck pain was present in
82% of patients with scoliosis and in 71% of patients without spinal deformity (Eric, D. Shirley,
MD., et. al., 2012).
Role of Occupational Therapy in Treatment:
Ehlers-Danlos Syndrome has so many various types of conditions that Occupational Therapists
can help with treatment in so many ways. The main treatment idea for a patient with this
disorder would be pain management. Pain management is extremely important in order for
patients to ease the pain experienced within the joints of the body. Occupational Therapy can
teach different techniques in order to manage pain. Splinting is a way to immobilize joints,
provide self-help devices to decrease the amount of stretching, and teach proper positioning to
decrease the forces that cause pain when not sitting in the proper position. Environmental
modifications in the home such as, railings and moving furniture, as this will decrease the risk of
falls which could lead to dislocations. Educating the family and patient with resources that are
available to them, this will help the patient understand the condition better, also will help with
self-management. Splints would be very beneficial for this population because of the joint
instability although, splinting can be difficult with some patients because of how fragile there
skin can be. Occupational Therapists have to be aware of this critical information in order to
avoid skin irritations. The use of assistive devices will also help this population to decrease the
stress in there joints. Some assistive devices such as; reachers, walkers, splints, sock aids, longhandle equipment, jar openers, and utensils with extended handles will help.

References

Zeitoun, J., Lefvre, J.,H., Parades, V. d., Sjourn, C., Sobhani, I., Coffin, B., & Hamonet, C.
(2013). Functional digestive symptoms and quality of life in patients with ehlers-danlos
syndromes: Results of a national cohort study on 134 patients. PLoS One, 8(11)
doi:http://dx.doi.org/10.1371/journal.pone.0080321

Giunta, C., Superti-Furga, A., Spranger, S., Cole, W. G., & Steinmann, B. (1999). Ehlers-danlos
syndrome type VII: Clinical features and molecular defects. Journal of Bone and Joint
Surgery, 81(2), 225-38. Retrieved from http://search.proquest.com/docview/205087037?
accountid=40780

Schalkwijk, J., PhD., Zweers, M. C., PhD., Steijlen, P. M., M.D., Dean, W. B., B.A., Taylor, G.,
B.A., van Vlijmen, Ivonne M, MSc, . . . Bristow, J., M.D. (2001). A recessive form of the
ehlers-danlos syndrome caused by tenascin-X deficiency. The New England Journal of
Medicine, 345(16), 1167-1175.

Eric D. Shirley, MD, Marlene DeMaio, MD, CAPT MC USN, Joanne Bodurtha, MD, MPH.
(2012). Ehlers-Danlos Syndrome in Orthopaedics: Etiology, Diagnosis, and Treatment
Implications. Sports Health.394-403.Retrieved from
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3435946/

Pediatric Diagnosis Assignment

Part 2-Case study
Kari Situm
Ehlers-Danlos Syndrome Case Study
Liam is a 5 year old Caucasian boy, born on August 5th 2009. Liam was born with Ehlers-Danlos
Syndrome type III. His mothers pregnancy ended with an unexplained complication when her
water broke in the 37th week of pregnancy. Liams mother first noticed that there was something
wrong with Liam when his shoulder joints made it difficult to pick him up when he was on the
floor. She was fearful that she was going to hurt him by picking him up under his arms. At 9
months old Liam started cruising around furniture, when doing this he would lose balance and
fall face first into the carpet. This caused Liam to have difficulty when wanting to get from one
place to the other. Liam was referred to Occupational Therapy services at the age of 10 months to
work on strengthening techniques of his upper extremities. At 17 months old Liam began
walking and would fall frequently as there house has hardwood floors throughout both floors.
Liams mother said that putting shoes on Liam in the house didnt help because he would trip
over them. Liam also has difficulty sleeping at night due to joint pain. Mother stated Liam rated
his pain as moderate on the pain scale. His mom said they have tried heating pads at night to help
him get to sleep. Liam loves being active; however his diagnosis makes that very difficult to
engage in active play activities with other children. He can only stand for short periods because
his knees will buckle forcing him to fall to the floor. Mother states that Liam is having difficulty
holding toothbrush to brush his teeth. He cannot hold onto it and brush at the same time. Liam is
currently in preschool and is demonstrating difficulty holding his pencil while in preschool.
Mothers goal for Liam is that he will achieve proper grasp holding a pencil before he starts
kindergarten in the Fall.
Liam has one brother who is 3 years older than him. Liam was born in Grand Forks, ND. His
parents have been married for 10 years. His mother works full-time as a hair stylist and his
father works full-time as an Engineer. Liams family currently attends United Lutheran Church.
Liam is currently in the preschool program at United Lutheran Church. He loves all of his
buddies that he gets to play with every day. He complains of not being able to participate in
most of the activities because of his illness. Liams family loves going camping in the summer
months. His favorite activity at the lake is swimming because he states he has no pain when in
the water. Liam is very creative and loves finger painting with his mother. Liams parents are
very supportive and are willing to try anything that will help their son with the day to day
challenges that they are faced with. Referral was made to OT to work on joint pain, joint
stability, balance, postural control, and pencil grasp.

Plan of Care:
Patients Name: Liam Michaels
Scheduled visits per week: 2 days a week/45 min sessions
Projected date to terminate services: 9 months
Referred to: Skilled Occupational Therapy Services

Goals for patient

Long term goals:
1.) Liam will independently print his name using dynamic tripod grasp in 6 months, while
maintaining optimal postural control sitting at the table within 6 months.
2.) Liam will have minimal pain while participating during play with his brother at home,
within 4 months.
3.) Liam will maintain his balance for 10-15 minutes standing while finger painting, within 6
months.
4.) Liam will demonstrate a decrease in falls by 75%, within 7 months.

Short term goals:

1.) Liam will independently trace his name using dynamic tripod grasp maintaining optimal
postural control 50% of the time within 3 months.
2.) Caregiver will implement home pain management program to increase comfort at night,
as needed.
3.) Liam will maintain his balance for 3-5 minutes while completing a puzzle sitting at the
table, within 1 month.
4.) Liam will make grippe socks to wear at home 50 % of the time, in order to avoid falls.

Treatment Activities

Activity 1: Liam will make personalized gripper socks with OTA.

Steps:

Pt. will gather supplies

Pt. will come up with ideas/pictures he would like to put on the socks
Pt. will pick out colors he would like to use
Pt. will apply paint to bottom of socks
Purpose of Activity: to decrease the amount of falls while at home when walking on
hardwood floors.
Items needed: table and chair appropriate height for Liam, socks, craft paint, pictures,
good lighting

Activity 2: Using model magic for pencil grasp

Steps:

Pt. will gather supplies

Pt. will pick what color model magic to use
Pt. will play with model magic
Pt will wrap model magic around pencil
Pt. will place hand on pencil to develop the correct grasp
Pt will press firmly on the model magic to imprint correct model magic form for formed
grasp on pencil

Purpose of Activity: to develop the correct pencil grasp for writing skills.
Items Needed: table and chair appropriate height for Liam, pencil, model magic
Activity 3: Pt. will wear a weighted hot pack on joints while playing operation.
Steps:

Pt. will gather supplies

Pt will set up operation game
Pt will cover skin with towel
Pt will apply hot pack to left elbow joint
Pt will play operation with OTA
Pt. will switch hot pack to right elbow
Pt. will continue to play operation until game is over

Purpose of activity: To decrease pain in joints, and to work on fine motor skills to develop
correct pencil grasp and strengthening to increase grasp when brushing teeth.

Items needed: table and chair appropriate height for Liam, towel, hot pack, operation game
Activity 4: Prone on therapy ball while playing Connect Four.
Steps:

Pt. will gather supplies

Pt. will lay prone on therapy ball
Pt. will take one piece at a time
Walk out using hands toward connect four game
Place first piece and walk backwards using hands to grab next piece
Pt will continue process until game is finished

Purpose of Activity: to increase strength and balance

Items Needed: open space, good lighting, and therapy ball, connect four game.
Activity 5: Liam and OTA will play mancala with pom-poms, using close pins to pick them up.
Steps:

Pt. will gather supplies

Pt. will set up game
Pt will play game using correct pincer grasp to grab pom-poms while using close
pins
Pt will complete game

Purpose of Activity: to work on strengthening for fine motor skills

Items needed: table and chair appropriate height for Liam, mancala game, pom-poms,
and close pins

Kari Situm OTAS/11/26/2014