pediatric limb deficiency ramona m.okumura, c.p./l.p. clinical prosthetist senior lecturer, division...

Pediatric Limb Deficiency

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

Clinical ProsthetistClinical Prosthetist

Senior Lecturer, Division of Prosthetics OrthoticsSenior Lecturer, Division of Prosthetics Orthotics

Department of Rehabilitation MedicineDepartment of Rehabilitation Medicine

School of MedicineSchool of Medicine

University of WashingtonUniversity of Washington

IntroductionIntroduction small number born with or acquiring a limb deficiencysmall number born with or acquiring a limb deficiency vast majority have no known etiologyvast majority have no known etiology child’s changing developmental capabilities continuously child’s changing developmental capabilities continuously

alter the team treatment planalter the team treatment plan must keep the doors open for long-term goals and yet must keep the doors open for long-term goals and yet

provide for optimal functioningprovide for optimal functioning successful outcome depends on treatment of the whole successful outcome depends on treatment of the whole

family family very pleasant clients which usually do very well in a very pleasant clients which usually do very well in a

healthy family unithealthy family unit

ObjectivesObjectives

Be able to classify Limb DeficienciesBe able to classify Limb Deficiencies Identify particular management issuesIdentify particular management issues Know how often to review the prescription as the Know how often to review the prescription as the

child growschild grows Predict a functional outcomePredict a functional outcome

EpidemiologyEpidemiology

Incidence estimated at 4 per 10,000 birthsIncidence estimated at 4 per 10,000 births Congenital 60% to Acquired 40%Congenital 60% to Acquired 40% Male : FemaleMale : Female

Congenital 1.2:1Congenital 1.2:1 Acquired 3:2Acquired 3:2

Left : Right Left : Right 2:1 in unilateral UE Transverse Deficiency2:1 in unilateral UE Transverse Deficiency

EpidemiologyCommon presentationsEpidemiologyCommon presentations

Unilateral transverse Unilateral transverse deficiency of the deficiency of the forearm middle thirdforearm middle third

Epidemiology Common presentationsEpidemiology Common presentations

Unilateral Unilateral conversion by conversion by ankle ankle disarticulation for disarticulation for longitudinal longitudinal fibular deficiencyfibular deficiency

EmbryologyEmbryology

Limbs form 4-7 weeks gestationLimbs form 4-7 weeks gestation Proximal to distal in sequenceProximal to distal in sequence Upper limb develops slightly ahead of the Upper limb develops slightly ahead of the

lower limblower limb Simultaneously with organ developmentSimultaneously with organ development Associated with Radial deficiencyAssociated with Radial deficiency

Etiology ofCongenital DeficienciesEtiology ofCongenital Deficiencies

EnvironmentalEnvironmental GeneticGenetic

Environmental EtiologyEnvironmental Etiology

precise origin unknown in the majority of precise origin unknown in the majority of casescases

Environmental EtiologyEnvironmental Etiology

precise origin unknownprecise origin unknown Speculate Vascular causes particularly some Speculate Vascular causes particularly some

kind of Thromboembolismkind of Thromboembolism

Environmental EtiologyEnvironmental Etiology

precise origin unknownprecise origin unknown Speculate Vascular/ThromboembolismSpeculate Vascular/Thromboembolism Mechanical: Amniotic Bands or Streeter’s Mechanical: Amniotic Bands or Streeter’s

dysplasia in which multiple limbs are dysplasia in which multiple limbs are involvedinvolved

Environmental EtiologyEnvironmental Etiology

precise origin unknownprecise origin unknown Speculate Vascular/ThromboembolismSpeculate Vascular/Thromboembolism Mechanical: Amniotic BandsMechanical: Amniotic Bands Maternal: Maternal:

diabetes mellitusdiabetes mellitus intrauterine infectionintrauterine infection

Environmental EtiologyEnvironmental Etiology

precise origin unknownprecise origin unknown Speculate Vascular/ThromboembolismSpeculate Vascular/Thromboembolism Mechanical: Amniotic BandsMechanical: Amniotic Bands Maternal causesMaternal causes Pharmaceutical:Pharmaceutical:

Thalidomide only proven drugThalidomide only proven drug Others suspected, no convincing evidenceOthers suspected, no convincing evidence

Genetic EtiologyGenetic Etiology

Chromosomal: ex. Chromosomal: ex. Turner’s Turner’s syndrome XXXsyndrome XXX

Genetic EtiologyGenetic Etiology

Single GeneSingle Gene Autosomal Autosomal

Dominant: Dominant: Longitudinal tibial Longitudinal tibial deficiencydeficiency

Genetic EtiologyGenetic Etiology

Single GeneSingle Gene Autosomal Autosomal

DominantDominant Autosomal Autosomal

Recessive: TARRecessive: TAR TThrombocytopenia hrombocytopenia AAbsent bsent RRadiusadius

Etiology ofAcquired DeficienciesEtiology ofAcquired DeficienciesTrauma 67%Trauma 67%

especially trains and especially trains and lawn mowerslawn mowers

Etiology ofAcquired DeficienciesEtiology ofAcquired Deficiencies DiseaseDisease 33%33%

majority caused by majority caused by malignancy, malignancy, particularly 12-21 particularly 12-21 years of ageyears of age

Etiology ofAcquired DeficienciesEtiology ofAcquired DeficienciesSurgical conversionSurgical conversion

for congenital limb for congenital limb deficiencydeficiency

Classification ofCongenital Limb DeficiencyClassification ofCongenital Limb Deficiency

International Organization for International Organization for Standardization (ISO)Standardization (ISO)

restricted to restricted to skeletal radiologicalskeletal radiological deficiency deficiency

ISO Classification ofCongenital Limb DeficiencyISO Classification ofCongenital Limb Deficiency

Transverse deficiency:Transverse deficiency:

no skeletal elements present distallyno skeletal elements present distally Name the level of the portion of the limb Name the level of the portion of the limb

involved (Upper Arm)involved (Upper Arm) State the portion where the absence occurs State the portion where the absence occurs

(“middle third” or “total”)(“middle third” or “total”)

ISO Classification ofCongenital Limb DeficiencyISO Classification ofCongenital Limb DeficiencyLeft Transverse Left Transverse

deficiency:deficiency: ForearmForearm middle thirdmiddle third

ISO Classification ofCongenital Limb DeficiencyISO Classification ofCongenital Limb Deficiency

Longitudinal deficiency:Longitudinal deficiency:skeletal elements present axially or distallyskeletal elements present axially or distally Name the bones involvedName the bones involved State partial or total absenceState partial or total absence

ISO Classification ofCongenital Limb DeficiencyISO Classification ofCongenital Limb DeficiencyRight Longitudinal Right Longitudinal

deficiency:deficiency: Fibula totalFibula total Tarsals partialTarsals partial Rays 3,4,5 totalRays 3,4,5 total

Frantz and O’Rahilly Classification Congenital Limb DeficiencyFrantz and O’Rahilly Classification Congenital Limb Deficiency

terminal or intercalaryterminal or intercalary transverse or paraxialtransverse or paraxial complete or incompletecomplete or incomplete additional termsadditional terms

amelia total absence of the limb involvedamelia total absence of the limb involved hemimelia partial absence of the limb involvedhemimelia partial absence of the limb involved phocomelia absence of the long bonesphocomelia absence of the long bones

Classification ofAcquired Limb DeficiencyClassification ofAcquired Limb DeficiencyThrough long bonesThrough long bones Upper ExtremityUpper Extremity

Transradial = Below Elbow (BE)Transradial = Below Elbow (BE) Transhumeral = Above Elbow (AE)Transhumeral = Above Elbow (AE)

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

Limb Salvage and Turnplasty (Van Ness)Limb Salvage and Turnplasty (Van Ness)

Classification ofAcquired Limb DeficiencyClassification ofAcquired Limb DeficiencyThrough the joint:Through the joint:

Name the joint + “Disarticulation”Name the joint + “Disarticulation” Upper Extremity: Wrist Disarticulation, Upper Extremity: Wrist Disarticulation,

etc.etc. Lower Extremity: Ankle Disarticulation, Lower Extremity: Ankle Disarticulation,

etc.etc.

Clinical PrinciplesTreatment goalsClinical PrinciplesTreatment goals

Healthy body Healthy body imageimage

Maintain choice for Maintain choice for prosthetic optionsprosthetic options

Optimal functionOptimal function

Clinical PrinciplesGeneral considerationsClinical PrinciplesGeneral considerations

Team approachTeam approach Developmental focusDevelopmental focus Return appointmentsReturn appointments

3-4 months to eval prosthetic fit & function3-4 months to eval prosthetic fit & function Annually for team to assess developmental Annually for team to assess developmental

needs needs

Clinical PrinciplesPsychosocial SupportClinical PrinciplesPsychosocial Support Clients need to meet others with similar Clients need to meet others with similar

presentationspresentations Guilt and associated familial problemsGuilt and associated familial problems Give child control and decision making Give child control and decision making

opportunitiesopportunities Genetic counseling should be provided to Genetic counseling should be provided to

both the child and parents both the child and parents

Clinical PrinciplesSurgical PlanningClinical PrinciplesSurgical Planning Timing for Timing for

congenital congenital conversionsconversions

Clinical PrinciplesSurgical PlanningClinical PrinciplesSurgical Planning TimingTiming Growth plate Growth plate

considerationsconsiderations

Clinical PrinciplesSurgical PlanningClinical PrinciplesSurgical Planning TimingTiming Growth plate Growth plate

considerationsconsiderations Overgrowth with Overgrowth with

long bone long bone transectionstransections

Clinical PrinciplesSurgical PlanningClinical PrinciplesSurgical Planning TimingTiming Growth plate Growth plate

considerationsconsiderations OvergrowthOvergrowth Planning for Planning for

multiple surgical multiple surgical proceduresprocedures

Clinical Principles OT and PTClinical Principles OT and PT

When infants, we must train parents When infants, we must train parents and caregiversand caregivers

Children need minimal “training” Children need minimal “training” instead need opportunityinstead need opportunity

Clinical Principles Prosthetic designsClinical Principles Prosthetic designs Endoskeletal vs. exoskeletalEndoskeletal vs. exoskeletal Flexible vs. rigidFlexible vs. rigid Growth adjustable designsGrowth adjustable designs Socks when applicable can allow for Socks when applicable can allow for

growthgrowth For unilateral deficiencies, legs are used, For unilateral deficiencies, legs are used,

but arms often rejectedbut arms often rejected RecreationRecreation

Clinical PrinciplesLE Prosthetic ConsiderationsClinical PrinciplesLE Prosthetic ConsiderationsWearing guidelinesWearing guidelines Fit when pull the Fit when pull the

stand and cruising stand and cruising (9-12 months)(9-12 months)

Clinical PrinciplesLE Prosthetic ConsiderationsClinical PrinciplesLE Prosthetic ConsiderationsFoot/AnkleFoot/Ankle Toddler gaitToddler gait

Lacks heel strikeLacks heel strike Wide base of supportWide base of support

Clinical PrinciplesLE Prosthetic ConsiderationsClinical PrinciplesLE Prosthetic ConsiderationsChild’s gaitChild’s gait more normal gaitmore normal gait benefit from benefit from

dynamic foot/ankledynamic foot/ankle

Clinical PrinciplesLE Prosthetic ConsiderationsClinical PrinciplesLE Prosthetic ConsiderationsKneeKnee

Toddler has Toddler has fixed/locked kneefixed/locked knee

Some centers Some centers experimenting with experimenting with a free kneea free knee

Clinical PrinciplesLE Prosthetic ConsiderationsClinical PrinciplesLE Prosthetic ConsiderationsKneeKnee

Toddler has Toddler has fixed/locked kneefixed/locked knee

At 3 y.o. temporary At 3 y.o. temporary reduction of Knee reduction of Knee ROM while learningROM while learning

Clinical PrinciplesLE Prosthetic ConsiderationsClinical PrinciplesLE Prosthetic ConsiderationsHip Hip uses alignment uses alignment

stabilitystability

Clinical PrinciplesUE Prosthetic ConsiderationsClinical PrinciplesUE Prosthetic ConsiderationsWearing guidelinesWearing guidelines 3 mos for supine grasp3 mos for supine grasp ““Fit when sit”Fit when sit” Best before 12 mos. Best before 12 mos. Common periods for Common periods for

rejectionrejection Unilaterals functional Unilaterals functional

without prosthesis, but without prosthesis, but more receptive learners more receptive learners than adultsthan adults

Clinical PrinciplesUE Prosthetic ConsiderationsClinical PrinciplesUE Prosthetic ConsiderationsGraspGrasp Passive as an infant Passive as an infant

for gross graspfor gross grasp

Clinical PrinciplesUE Prosthetic ConsiderationsClinical PrinciplesUE Prosthetic ConsiderationsGraspGrasp Active when Active when

developmentally developmentally “ready” and able to “ready” and able to “understand” grasping “understand” grasping function (18-24 function (18-24 months)months)

Clinical PrinciplesUE Prosthetic ConsiderationsClinical PrinciplesUE Prosthetic ConsiderationsGraspGrasp Electric switch control Electric switch control

can provide active can provide active control at an earlier control at an earlier ageage

Clinical PrinciplesUE Prosthetic ConsiderationsClinical PrinciplesUE Prosthetic ConsiderationsElbowElbow Fixed for sitting Fixed for sitting

balance as an infantbalance as an infant

Clinical PrinciplesUE Prosthetic ConsiderationsClinical PrinciplesUE Prosthetic ConsiderationsElbowElbow Fixed as an infantFixed as an infant Passive friction for Passive friction for

toddlertoddler Active locking at 3 Active locking at 3

years oldyears old

Clinical PrinciplesUE Prosthetic ConsiderationsClinical PrinciplesUE Prosthetic ConsiderationsHigh level High level

prosthetic function prosthetic function poor substitute poor substitute

and often rejectedand often rejected

Special Case DiscussionSpecial Case Discussion

Proximal Femoral Proximal Femoral Focal Deficiency Focal Deficiency (PFFD)(PFFD)

Aitken A or BAitken A or B

Special Case DiscussionSpecial Case Discussion

Proximal Femoral Proximal Femoral Focal Deficiency Focal Deficiency (PFFD)(PFFD)

Aitken A or BAitken A or B Aitken C or DAitken C or D

Special Case DiscussionSpecial Case Discussion

Longitudinal fibular Longitudinal fibular deficiencydeficiency

Normal foot Normal foot with stable ankle, with stable ankle, centralization surgerycentralization surgery AFOAFO Shoe Lifts/LengtheningShoe Lifts/Lengthening

Special Case DiscussionSpecial Case Discussion

Longitudinal fibular Longitudinal fibular deficiencydeficiency

Abnormal foot Abnormal foot Ankle disarticulation Ankle disarticulation

conversion conversion for a Prosthesisfor a Prosthesis

Special Case DiscussionSpecial Case Discussion

Septicemia/Purpura Septicemia/Purpura FulminansFulminans

Skin managementSkin management OvergrowthOvergrowth

Radial DeficiencyRadial Deficiency Associated pathologiesAssociated pathologies geneticsgenetics

Special Case DiscussionSpecial Case Discussion

Tibial DeficiencyTibial Deficiency Surgical conversionSurgical conversion geneticsgenetics

Special Case DiscussionSpecial Case Discussion

Bilateral upper Bilateral upper extremityextremity

Special Case DiscussionSpecial Case Discussion

Bilateral upper Bilateral upper extremityextremity

Bilateral lower Bilateral lower extremityextremity

Special Case DiscussionSpecial Case Discussion

Special Case DiscussionSpecial Case Discussion

High Level High Level Quadramembral Quadramembral DeficienciesDeficiencies

FUNCTIONFUNCTION