Transcript TAR Syndrome

TAR Syndrome
Pediatric Diagnosis Paper
Josh Hensley, Ryan Hua, Gary Pearson, and Johnny Rider
TAR Syndrome
Etiology and Prevalence
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TAR syndrome is a genetic disorder which causes an absence of the
radius in both forearms
Other bones may be missing/abnormally formed but the thumb is present
Shortage of blood cells which are involved in clotting
Can result in easy bruising and frequent nosebleeds
Severe hemorrhaging can occur in the brain especially during the first
year of life and can be life threatening
Hemorrhaging can lead to intellectual disabilities
Short stature, smaller jaw bone, more prominent forehead, and lower set
ears
Etiology and Prevalence Cont.
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RBM8A is the gene that causes TAR
syndrome
TAR syndrome is a rare disorder
affecting less than 1 in 100,000
individuals
Autosomal recessive pattern which is
inherited, both copies of the genes
are altered
40% die in infancy
Additional impairments may include:
lower body anomalies, intolerance to
cow milk, renal and cardiac
anomalies
Description of Taylor
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11 years old
Loves to dance and host sleepovers
Middle class family
o Mother is a Registered Nurse
o Father is a high school principal
o Two older brothers and one older
sister
Lives in Riverton, Utah
Homeschooled all her life
Very involved in church and with
extended family
How TAR Syndrome Affects
Performance
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Note: Adapted on-suite in home
Restricted ROM in both upper extremities
Difficulties completing ADL’s such as:
o Showering- Has adapted shower made personally for her
o Dressing- Can’t dress self or tie shoes
o Personal Device Care- Prosthetic leg
o Personal Hygiene- Unable to Brush hair, brushing teeth is difficult
w/out AE
o Toileting- Can not wipe self. Donning and doffing clothes is very
difficult. She can not button her pants.
Effects On Performance
Continued
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Public restrooms pose a problem
o No bidet
o Turning on faucet
o Toilet hygiene
Going up and down stairs with her prosthetic leg
High-intensity activities such as sports
Carrying a backpack/school supplies
Assessment tools
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Canadian Occupational Performance Model
o To figure out Taylor’s priorities as well as her family’s
priorities and goals which include as soccer, independence
and attending public school
Occupational Analysis on Taylor playing soccer (vestibular
balance and equilibrium)
Pediatric Evaluation of Disability Inventory
o Self-care
 Bathing, Dressing, Toileting
PEDI
OA Model/Compensatory FOR
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OA Model
o Her condition does not
allow for remediation
o Best to alter task,
person, and environment
o Taylor prefers to have
the quickest fix possible
to become independent
and wants more adaptive
equipment
Intervention Approaches
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Modification- Remediation is not likely and
therefore modification is the quickest and
easiest approach to enable Taylor to become
as independent as possible.
Restore/Create- due to her prosthetic leg,
vestibular equilibrium is needed for proper
balance.
Taylor’s Prosthetics Used To
Dance
What activities can be
implemented to promote
higher level functioning?
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Soccer (Taylor’s goal)
o Self-esteem-part of team, leadership skills, and a
sense of involvement
o Psychosocial aspects
o Physical health benefits and overall well-being
o Functional mobility, balance, and ambulation. These
can be generalizable to her everyday life
Activities to promote higher
level functioning continued
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Self-Care
o Adaptive equipment education
 Reaching aids
 Mounted wall hook (self dressing)
 Zipper pulls
 Buttoning aids
 Tissue wand or portable bidet
o Toileting
 Pratice in public/school restrooms since she will be going to
public school next year
What is developmentally
appropriate and functionally
desired for Taylor?
• Body image
• Psychosocial development
• Self-esteem
• Coordination and motor control
TAR Syndrome Questions
1) What would be the least effective model of practice/frame of reference to
use for a child with TAR syndrome?
A.) Compensatory
B.) Psychosocial
C.) Dynamical Systems
D.) Biomechanical
TAR Syndrome Questions Cont.
3) What musculoskeletal abnormalities are NOT typically present with TAR
syndrome?
A.) Absent thumbs
B.) Short in stature
C.) Underdevelopment of upper and lower limbs
D.) Small lower jaw (mandible)
E.) All of the above are typically present in TAR syndrome
TAR Syndrome Questions Cont.
3) Occupational therapy for children/adolescents with TAR syndrome most
closely aligns with treatment for which of the following?
A.) Muscular Dystrophy
B.) Limb deficiencies
C.) ASD
D.) Cerebral Palsy
References
Hall, J. G. (1987). Thrombocytopenia and absent radius (TAR) syndrome. Journal of Medical Genetics, 24, 79-83. Retrieved
from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049893/pdf/jmedgene00076-0015.pdf
Hussey, S. M., & O’Brien, J. C. (2012). Introduction to Occupational Therapy. St. Louis, MO: Elsevier.
Thrombocytopenia absent radius syndrome. (2011). Retrieved on November 8, 2013 from
http://www.health24.com/medical/genetics/genes-and-disease/thrombocytopenia-absent-radius-syndrome20130312
Thrombocytopenia-absent radius syndrome. (2013). Retrieved on November 9, 2013 from
http://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome
Vroman, K. (2010). In Transition to adulthood: the occupations and performance skills of adolescents. In J. Case-Smith &
J.C. O’Brien (6th Ed.), Occupational therapy for children (pp. 84-107). Maryland Heights, MO: Mosby Inc.