Pediatric Limb Deficiency

Ramona M.Okumura, C.P./L.P.

Clinical Prosthetist
Senior Lecturer, Division of Prosthetics Orthotics
Department of Rehabilitation Medicine
School of Medicine
University of Washington
Introduction
 small number born with or acquiring a limb deficiency
 vast majority have no known etiology
 child’s changing developmental capabilities continuously
alter the team treatment plan
 must keep the doors open for long-term goals and yet
provide for optimal functioning
 successful outcome depends on treatment of the whole
family
 very pleasant clients which usually do very well in a
healthy family unit
Objectives

 Be able to classify Limb Deficiencies

 Identify particular management issues
 Know how often to review the prescription as the
child grows
 Predict a functional outcome
Epidemiology
 Incidence estimated at 4 per 10,000 births
 Congenital 60% to Acquired 40%
 Male : Female
 Congenital 1.2:1
 Acquired 3:2
 Left : Right
 2:1 in unilateral UE Transverse Deficiency
Epidemiology
Common presentations
Unilateral transverse
deficiency of the
forearm middle third
 Epidemiology
Common presentations
Unilateral
conversion by
ankle
disarticulation
for longitudinal
fibular
deficiency
 Embryology

 Limbs form 4-7 weeks gestation

 Proximal to distal in sequence
 Upper limb develops slightly ahead of the
lower limb
 Simultaneously with organ development
 Associated with Radial deficiency
Etiology of
Congenital Deficiencies

 Environmental
 Genetic
Environmental Etiology
 precise origin unknown in the majority of
cases
Environmental Etiology
 precise origin unknown
 Speculate Vascular causes particularly some
kind of Thromboembolism
Environmental Etiology
 precise origin unknown
 Speculate Vascular/Thromboembolism
 Mechanical: Amniotic Bands or Streeter’s
dysplasia in which multiple limbs are
involved
Environmental Etiology
 precise origin unknown
 Speculate Vascular/Thromboembolism
 Mechanical: Amniotic Bands
 Maternal:
 diabetes mellitus
 intrauterine infection
Environmental Etiology
 precise origin unknown
 Speculate Vascular/Thromboembolism
 Mechanical: Amniotic Bands
 Maternal causes
 Pharmaceutical:
 Thalidomide only proven drug
 Others suspected, no convincing evidence
Genetic Etiology
Chromosomal: ex.
Turner’s
syndrome XXX
Genetic Etiology
Single Gene
 Autosomal
Dominant:
Longitudinal tibial
deficiency
Genetic Etiology
Single Gene
 Autosomal
Dominant
 Autosomal
Recessive: TAR
Thrombocytopenia
Absent Radius
Etiology of
Acquired Deficiencies
Trauma 67%
especially trains and
lawn mowers
Etiology of
Acquired Deficiencies
 Disease 33%
majority caused by
malignancy,
particularly 12-21
years of age
Etiology of
Acquired Deficiencies
Surgical conversion
for congenital limb
deficiency
Classification of
Congenital Limb Deficiency
International Organization for
Standardization (ISO)
restricted to skeletal radiological deficiency
ISO Classification of
Congenital Limb Deficiency
Transverse deficiency:
no skeletal elements present distally
 Name the level of the portion of the limb
involved (Upper Arm)
 State the portion where the absence occurs
(“middle third” or “total”)
ISO Classification of
Congenital Limb Deficiency
Left Transverse
deficiency:
 Forearm
 middle third
ISO Classification of
Congenital Limb Deficiency
Longitudinal deficiency:
skeletal elements present axially or distally
 Name the bones involved
 State partial or total absence
ISO Classification of
Congenital Limb Deficiency
Right Longitudinal
deficiency:
 Fibula total
 Tarsals partial
 Rays 3,4,5 total
Frantz and O’Rahilly Classification
Congenital Limb Deficiency

 terminal or intercalary
 transverse or paraxial
 complete or incomplete
 additional terms
 amelia total absence of the limb involved
 hemimelia partial absence of the limb involved
 phocomelia absence of the long bones
Classification of
Acquired Limb Deficiency
Through long bones
 Upper Extremity
 Transradial
= Below Elbow (BE)
 Transhumeral = Above Elbow (AE)

 Lower Extremity
 Transtibial
= Below Knee (BK)
 Transfemoral = Above Knee (AK)

 Limb Salvage and Turnplasty (Van Ness)

Classification of
Acquired Limb Deficiency
Through the joint:
Name the joint + “Disarticulation”
 Upper Extremity: Wrist Disarticulation, etc.
 Lower Extremity: Ankle Disarticulation,
etc.
Clinical Principles
Treatment goals
 Healthy body
image
 Maintain choice for
prosthetic options
 Optimal function
Clinical Principles
General considerations

 Team approach
 Developmental focus
 Return appointments
 3-4months to eval prosthetic fit & function
 Annually for team to assess developmental
needs
Clinical Principles
Psychosocial Support
 Clients need to meet others with similar
presentations
 Guilt and associated familial problems
 Give child control and decision making
opportunities
 Genetic counseling should be provided to
both the child and parents
Clinical Principles
Surgical Planning
 Timing for
congenital
conversions
Clinical Principles
Surgical Planning
 Timing
 Growth plate
considerations
Clinical Principles
Surgical Planning
 Timing
 Growth plate
considerations
 Overgrowth with
long bone
transections
Clinical Principles
Surgical Planning
 Timing
 Growth plate
considerations
 Overgrowth
 Planning for
multiple surgical
procedures
Clinical Principles OT and PT
 When infants, we must train parents
and caregivers
 Children need minimal “training”
instead need opportunity
Clinical Principles
Prosthetic designs
 Endoskeletal vs. exoskeletal
 Flexible vs. rigid
 Growth adjustable designs
 Socks when applicable can allow for growth
 For unilateral deficiencies, legs are used,
but arms often rejected
 Recreation
Clinical Principles
LE Prosthetic Considerations
Wearing guidelines
 Fit when pull the
stand and cruising
(9-12 months)
Clinical Principles
LE Prosthetic Considerations
Foot/Ankle
 Toddler gait
 Lacks heel strike
 Wide base of support
Clinical Principles
LE Prosthetic Considerations
Child’s gait
 more normal gait
 benefit from
dynamic foot/ankle
Clinical Principles
LE Prosthetic Considerations
Knee
 Toddler has
fixed/locked knee
 Some centers
experimenting with
a free knee
Clinical Principles
LE Prosthetic Considerations
Knee
 Toddler has
fixed/locked knee
 At 3 y.o. temporary
reduction of Knee
ROM while learning
Clinical Principles
LE Prosthetic Considerations
Hip
 uses alignment
stability
Clinical Principles
UE Prosthetic Considerations
Wearing guidelines
 3 mos for supine grasp
 “Fit when sit”
 Best before 12 mos.
 Common periods for
rejection
 Unilaterals functional
without prosthesis, but
more receptive learners
than adults
Clinical Principles
UE Prosthetic Considerations
Grasp
 Passive as an infant for
gross grasp
Clinical Principles
UE Prosthetic Considerations
Grasp
 Active when
developmentally
“ready” and able to
“understand” grasping
function (18-24
months)
Clinical Principles
UE Prosthetic Considerations
Grasp
 Electric switch control
can provide active
control at an earlier
age
Clinical Principles
UE Prosthetic Considerations
Elbow
 Fixed for sitting
balance as an infant
Clinical Principles
UE Prosthetic Considerations
Elbow
 Fixed as an infant
 Passive friction for
toddler
 Active locking at 3
years old
Clinical Principles
UE Prosthetic Considerations
High level
prosthetic function
poor substitute
and often rejected
Special Case Discussion
Proximal Femoral
Focal Deficiency
(PFFD)
 Aitken A or B
Special Case Discussion
Proximal Femoral
Focal Deficiency
(PFFD)
 Aitken A or B
 Aitken C or D
Special Case Discussion
Longitudinal fibular
deficiency
 Normal foot
with stable ankle,
centralization surgery
 AFO
 Shoe Lifts/Lengthening
Special Case Discussion
Longitudinal fibular
deficiency
 Abnormal foot
 Ankle disarticulation
conversion
for a Prosthesis
Special Case Discussion
Septicemia/Purpura
Fulminans
 Skin management
 Overgrowth
Special Case Discussion
Radial Deficiency
 Associated pathologies
 genetics
Special Case Discussion
Tibial Deficiency
 Surgical conversion
 genetics
Special Case Discussion
 Bilateral upper
extremity
Special Case Discussion
 Bilateral upper
extremity
 Bilateral lower
extremity
Special Case Discussion
High Level
Quadramembral
Deficiencies

 FUNCTION