Pediatric Diagnosis Paper Josh Hensley Ryan Hua Gary Pearson and Johnny Rider TAR Syndrome Etiology and Prevalence TAR syndrome is a genetic disorder which causes an absence of the radius in both ID: 419516
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Slide1
TAR Syndrome
Pediatric Diagnosis Paper
Josh Hensley, Ryan Hua, Gary Pearson, and
Johnny RiderSlide2
TAR SyndromeSlide3
Etiology and Prevalence
TAR syndrome is a genetic disorder which causes an absence of the radius in both
forearms
O
ther
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 earsSlide4
Etiology and Prevalence Cont.
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 anomaliesSlide5
Description of Taylor
11 years old
Loves to dance and host sleepovers
Middle class family
Mother is a Registered Nurse
Father is a high school principal
Two older brothers and one older sister
Lives in
Riverton, Utah
Homeschooled all her life
Very involved in
church and with extended familySlide6
How TAR Syndrome Affects Performance
Note: Adapted on-suite in home
Restricted
ROM in both upper extremities
Difficulties completing ADL’s such as:
Showering- Has adapted shower made personally for her
Dressing- Can’t dress self or tie shoes
Personal Device Care- Prosthetic leg
Personal Hygiene-
Unable to Brush
hair, brushing teeth is difficult w/out AE
Toileting- Can not wipe self.
Donning
and doffing clothes is very difficult. She can not button her
pants.Slide7
Effects On Performance Continued
Public
restrooms pose a problem
No bidet
Turning on faucet
Toilet hygiene
Going up and down stairs with her prosthetic
leg
High-intensity activities such as sports
Carrying a backpack/school suppliesSlide8
Assessment tools
Canadian Occupational Performance Model
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
Self-careBathing, Dressing, ToiletingSlide9
PEDISlide10
OA Model/Compensatory FOR
OA Model
Her condition does not allow for remediation
Best to alter task, person, and environment
Taylor prefers to have the quickest fix possible to become
independent and wants more adaptive equipmentSlide11
Intervention Approaches
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.Slide12
Taylor’s Prosthetics Used To DanceSlide13
What activities can be implemented to promote higher level functioning?
Soccer (Taylor’s goal)
Self-esteem-part
of team, leadership skills, and a sense of involvement
Psychosocial aspects
Physical
health
b
enefits
and overall well-being
Functional mobility, balance, and ambulation. These can be
generalizable to her everyday lifeSlide14
Activities to promote higher level functioning continued
Self-Care
Adaptive
e
quipment education
Reaching aids
Mounted
wall
h
ook (self dressing)Zipper pulls
Buttoning aids
Tissue
wand
or portable
b
idet
Toileting
Pratice in public/school
restrooms since
she will be going
to public school next yearSlide15
What is developmentally appropriate and functionally desired for Taylor?
Body image
Psychosocial development
Self-esteem
Coordination and motor controlSlide16
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.) BiomechanicalSlide17
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 syndromeSlide18
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 PalsySlide19
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-syndrome-20130312
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.