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Notes From the Medical Director

Congenital Limb Deficienciesand Ac uired Amputations7,n Child ood,Doug~asG,ith,mthe remaining portion has not formed

Limb loss is, however, especially devastat-ing whenever it happens to a child. Some-times, limb loss in children results frombirth defects, cancer or severe infections. Inother cases, a traumatic injury from a lawnmower or traffic accident is the reason.Limb loss deeply affects the child and hisor her brothers and sisters. It is especiallydifficult for the parents. Everyone becomesinvolved in issues concerning surgery,recovery and rehabilitation. The goal of thisthree-part series is to provide insights aboutcongenital limb deficiencies and acquiredamputations in childhood that will behelpful to parents, children and pediatrichealthcare professionals.

There are two main categories of limbloss in children: congenital limb deficiencyand acquired amputations. A congenitallimb deficiency is present at birth. It caninvolve either the upper or lower limb.Unfortunately, there are also rare instanceswhen multiple limb deficiencies occur.Though congenital deficiencies can bethe complete absence of a limb, morecommonly, part of the limb is missing and

normally. Sometimes, surgery is performedto straighten the limb or to address limblength inequality. At other times, surgerymay be recommended to reshape thelimb to enhance prosthetic fi t and improveprosthetic use. Surgery is much morecommonly recommended for lower-limbcongenital deficiencies than for thoseinvolving the upper limbs.

In the upper limb, congenital deficien-rie s most frequently involve the hand.Fortunately, a child can retain quite a bitof function with an upper-limb deficiency,even if a large part of the limb is missingand there are major deformities. It's rareto perform upper-limb surgery early in thechild's life. It may take time to determinewhether the child can effectively grasp andmanipulate objects with the involved limb.Rudimentary digits, even if unable to physi-cally grasp objects, may be able to controlswitches and sensors to enhance prostheticuse. We try to save any parts of the upperlimb that may have functionality.

In the lower limbs, minor deficienciesmay not need much treatment at all. Theymay, however, indicate a subtle but moreserious involvement of the leg, hip or eventhe spine. A child with even minor toe orfoot deficiencies should have a full ortho-pedic evaluation of his or her extremitiesand spine.

Lower-limb congenital deficienciesare evaluated to determine their ability towithstand the forces of weightbearing andwalking and to assess the comparativelengths of each leg. Surgery may be neces-sary to modify the residual limb for a

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Notes From the Medical DirectorIrosthesis so that it will tolerate weight-bearing and walking. Congenital defi-ciencies often lead to complex surgicaldecision-making, prosthetic fitting, andrehabilitation that are as unique as thedeficiencies themselves. Most of ten, deci-sions are not rushed into and are madeonly after much thoughtful discussion, athorough understanding of all of the issues,and several evaluations to assess the limb'spotential growth and function.

I continue to be amazed by the persever-ance, ability and strength of these youngindividuals and their families. I believe thatthe noted 17th century French academicJean De La Bryere was certainly correctwhen he stated, 'Qut of difficulties growmiracles."CongenitalLimbDeficienciesPreventing birth defects has been themission of the March of Dimes since itsinception in 1938. President FranklinRoosevelt, himself a polio victim, foundedthe National Foundation for Infantile Paraly-sis in 1938 to find a cure for this deadlydisease. Later that year, a radia announcerurged listeners to send dimes to the WhiteHouse to pay forresearch to find a cure forpolio. Thisuras the beginning of the Marchof Dimes. Here, in the 21st century, its Website, www mch ofdim es.co m, providesvaluable information on pregnancy, babies,folk acid, premature births, birth defects,and other issues pertaining to children andtheir famif es. In addition, data collected bythe March of Dimes helps us put congenitallimb deficiencies in perspective.

Birth defectscan happen anywherein the body, and any birth defect can beheartbreaking. About 150,000 babies areborn with som e farm of birth defect eachyear in the United States- a ratio of oneout of every 28 newborns, according tothe Mach of Dimes. While this is a largenumber, it includes the full range of birthdefects, including those involving the heart,kidneys, other internal organs, spine andthe external muscuIo-skeletal systems. Thecauses of 60 to 70 percent of these birthdefects are unknown.

Specific birth defects involving the arms

or legs are called congenital limb deficien-cies. The overall rate of congenital limbdeficiencies is 0.3 to 1 per 1,000 live birthsin the United States -affecting an estimated1,500 to 4,500 children per year. Research-ers say 58.5 percent of all limb deficienciesin newborns involve the upper Iimb. Lessthan half involve the lav er limb.Amuchsmaller percentage of these children haveinvolvement of upper and lower limbs. L i ethe causes of all birth defects, the specificcauses of congenital limb deficiencies arefrequently unknown,

Genetic factors are sometimes involved.Each of us has about 25,000 genes, accord-ing to the latest research in the ongoingeffort to map the human genome.Anabnormality in just one gene can causeb ii h defects. Other birth defects appearto be caused by both genetic and envi-ronmental factors. Environmental factorsmight include drug or alcohol abuse during

pregnancy, infections, and exposure tocertain medications or chemicals. Whenbirth defects are linked to both genetic andenvironmental factors, we call it multiiacto-rial inheritance. Examples of these types ofbirth defects are a cleft lip or palate, equin-ovarus (commonly known as clubfoot),and some heart defects.While some limb deficiencies do havea genetic factor, it is not always easy tofigure out where the abnorm al gene camefrom.We generally think of genetic traitsas always being passed dow n from themother and father, but with limb deficien-cies this often is not the w e , Sometimes,genetic problems happen spontaneously.This is called a point mutation, when anabnormal gene occurs unique@ n theembryo. Neither parent has the geneticabnormality; literally, it just happens.

Once a person has such a genetic abnor-mality, even if it occurs spontaneously and

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Notes From the Medical Directorhas never occurred before in either side ofthe family, it is now in that person's DNA.Some genetic abnormalities can be passedon to future generations, but it's importantto note that others are not. While the defectmay be in a person's DNA, it does notautomatically mean that a limb deficiencywill be passed on to future generations.Counseling with a geneticist can help deter-mine if a risk is present.

Scientists believe that in most cases nooutside agent is to blame and the cause ofthe genetic mutation simply isn't known.Limb development begins in the fourthweek of gestation and is nearly completeby the eighth week. If an outside agent,such as a hazardous chemical or medica-tion, is involved in transforming a specificgene or affecting limb development,exposure would occur within four to sixweeks after conception, a time whenmost women are not aware that they'repregnant.Several toxins, medications and evenvitamins are indeed known to affect limbdevelopment. The most notorious isthalidomide, a medication prescribed inthe 1950s and early 1960s to help relievenausea in early pregnancy. This led to anumber of children, mostly in Europe, whowere born with very short upper limbs,often with the hands attached up near theshoulders. These children frequently hadsevere deficiencies in their legs as well.In very high doses, retinoic acid (Vita-min A) may affect limb development.Isotretinoin,which is closely related toVitamin A, is used by some as a treatmentfor severe acne. Isotretioin (sold underseveral brand names, including Accutane)has been linked to birth defects and is notadvised for women who are pregnant orwho may become pregnant while takingthe medicine. In August, the US Food andDrug Administration (FDA) announced anew national registry with strict guidelinesto protect the unborn from side-effectsfrom Accutane and the generic forms ofisotretinoin. Under the program, a personmust enroll in the national iPLEDGEcomputerized registry, starting December31,2005, to receive Accutane or generic

versions of isotretinoin. In addition, doctorsmust register to continue prescribing thesedrugs, while pharmacists and wholesalersare required to register to continue ship-ping supplies.

Under the new FDA rules, all patientsseeking a prescription for Accutane orgeneric isotretinoin must sign a documentinforming them of the risks. Women ofchildbearing age also must undergo twotests in a doctor 's office or laboratory toensure that they aren't pregnant before theinitial prescription and monthly pregnancytests before each refill. The physician mustenter the pregnancy test results into theiPLEDGE system. The patients are thenrequired to buy their pills within sevendays of these tests. They also must agreeto use two forms of birth control whileusing Accutane and register in iPLEDGE, inaddition to the doctor's initial registration,to report that they're doing so. Pharma-cists must check the iPLEDGE databasebefore filling a prescription to ensurethese patients have followed all the rules.Accutane's manufacturer, Hoffman-LaRoche, and generic manufacturers are tomonitor drugstores and wholesalers forcompliance and have agreed to cut off sup-plies to violators.

Amputations ResultingFrom Traumatic InjuriesandDiseaseThe second main category of limb loss inchildren is acquired childhood amputa-tions. Acquired amputations can be theresult of cancer, trauma or severe infec-tions, There are also unique abnormalitiesof blood vessels or nerves in children thatcan result in acquired amputations. Oneabnormality of the blood vessels is calledsevere hemangiomas. Another example isan abnormality of the nerves that causescongenital insensitivity to pain. In thiscondition, a child does not have feelingin his or her feet and an amputation maybe required after repeated trauma, ulcersand infections. While these a re congenitalproblems, the amputations are consideredacquired because they happen later inlife and result from complications of thedisease.Acquired am putations in childrenrequire surgical procedures, rehabilita-tion and prosthetic fitting that are verysimilar to those for adults,with one majorexception: The ch id will continue togrow. UnfortunateIy, it's not always easyto predict whether the residual l i b willgrow and change proportionally to theother side. This can. lead to the need formany modifications and adjustments of thech'1d's prosthesis- ar more, in fact, thanthose required for a full-grown adult. Thechild" prosthetic device may need to belengthened and the socket changed morefrequently because of growth factors,

Injuries are the leading cause of deathand disability in children after infancy.Disabling injuries resulting from lawnmowers, traffic accidents, fireworks, powertools, farm equipment, gunshot wounds,or axes or hatchets can require amputa-tioa Less common, but not unheard of, aretrauma injuries involving train accidents,horseback riding, ropes or netting, chains,sharp metal, doors, vehicle fan belts, glass,meat slicers and escalators that result inamputation.It's difficult to find any national figuresfor the number of childhood amputationsresulting from traum a that occur each year,

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but looking at regional findings providessom e insights. I took part in a study of74 children admitted to a Seattle traumacenter over a 10-year period for amputa-tion or salvage injuries. Boys sustain theseinjuries much more often than girls-70percent vs. 30 percent - and , surprisingly,one-third of all of these injuries occurred tochildren under the age of 5. The two maincauses of amputation in children werelawn mowers and crush injuries.While the causes of the injuries in ourstudy varied, certain findings were strik-ing. Lawn mowers were the single mostcommon cause of injuries and accountedfor nearly half of the injuries to young chil-dren. Those under age 5 sustained nearlyone-third (32 percent) o f all the injuries inthis research study, with more than half (57percent) resulting in am putation. Nearlyhalf (46 percent) of these injuries were dueto lawn mow er accidents.

Researchers in Minnesota had somesimilar findings. There were 256 am puta-tions in 235 children at a Minneapolishospital between 1980 and 2000. Traumaticamputation was caused by lawn mowersin most (69) of those cases, followedby farm machinery (57), motor vehicleaccidents (881, trains (20), and miscel-laneous mechanisms (51). Fity-four of thechildren with lawn mower amputations-78 percent -were age 5 or under. Most ofthe amputations (165) involved the lowerextremity.The circum stances involving lawnmower injuries are frequently misunder-stood. The majority of lawn mower injuriesI see in the Pacific Northwest involveriding lawn mow ers. Frequently, a child,who is sitting on the lap of m om, dad or agrandparent, falls off and the blade strikesan arm or leg. Many adults think that itwill be fun for the child to ride on their lapwhile they're mowing the lawn and theydon't realize the danger. After an accidentoccurs, they're devastated. At other times,the child is playing in the yard while theriding mower is in operation and the childruns up behind or in front of it and gets hit.The operator often can't hear the child overthe noise of the mower. The safest thing is

to never have a child ride in your lap whileyou are mowing the lawn and to neverallow children to play in the yard whileyou're mowing. I believe that these injuriesare preventable.

Pediatric limb deficiencies and amputa-tion affect us all profoundly. We wonderhow God could allow this to happen to achild. I do not believe that we will ever beable to understand the reasons why, but Iam continually amazed by the resilienceand determination of all who are touchedby these courageous young individuals.I"Neuerdoes aman know theforce that is in him tillsomemishy affectionorgrief hashumanried the soul."

AcknowledgementPortions of this column were edited fromthe Atlas of Amputations and Limb Defi-ciencies, edited by DouglasG. Smith, MD,John W. Michael, MEd, CPO, and John H,Bowker,MD (Chapter 61 by John R. Fisk,MD, and Douglas G. Smith, MD, Chapter 63by Joan E. Edelstein,MA, PT, and Chapter64 by Donald R. Cumrnings, CP, LP).ReferencesThe Journal of Trauma, "Pediatric amputa-tion injuries: etiologyl cost and outcome,"by Trautwein LC, Smith DG, R i a P.1996; 41:831-838.The American Jou rnal of Bone an d JointSurgery, "Demographics of traumaticamputations in children. Implications forprevention strategies," by R. Loder. 2004May; 86-A(5): 923-8.

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