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 3-4 months 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