Through the accidents of birth or tragedies of nature some children must face a life with limb deficiencies. They deserve the support of an understanding and loving family, a knowledgeable health care system, and an accepting society. As physicians, we have a responsibility to help the family understand the particular needs of this child, to develop a health care system that efficiently brings to him current medical knowledge and treatment, and to be his champion to society so these special needs are recognized and respected. The family with a new limb deficient child turns for help to the pediatrician who can give them the support they deserve if his knowledge base and understanding are adequate.
CLASSIFICATION AND NOMENCLATURE
The most utilitarian classification has two basic categories: congenital limb deficiencies and acquired limb deficiencies.
Congenital limb deficiencies
Some congenital amputations are part of a particular genetic syndrome: trisomies syndromes (such as 13 or 18); autosomal dominant syndromes (such as brachydactyly fibular agenesis syndrome); autosomal recessive syndromes (such as thrombocytopenia - absent - radius - [TAR] syndrome).1 Other congenital amputations are acquired during gestation, either due to amniotic bands such as Streeter's dysplasia, or due to maternal ingestion of toxic chemicals, such as thalidomide which may cause disastrous phocomelia. Certainly a careful family history and a history of maternal drug ingestion or toxic chemical exposure particularly during the first trimester is indicated if we are to gain more knowledge of the etiologies of this preventable type of limb deficiency. One study found 1 1 drug products per patient ingested during the prenatal period.2 A recent epidemiological survey of pediatric amputees concluded that "there were no lower extremity single limb deficiencies that were not part of a syndrome."1 The opposite is generally true in upper limb congenital amputation. The most common congenital amputation is a spontaneous isolated left below elbow amputation in a girl (Figure 1).
Acquired limb deficiencies
Trauma is an important etiology of disease in children. In recent months, a lawn mower accident resulted in a partial foot amputation and a dirt motor bike accident resulted in a below the knee amputation. In children with malignant neoplasia of the limbs, surgical amputation with its potential for cure is another cause of limb deficiency. Osteogenic sarcoma in the préadolescent or adolescent frequently occurs about the knee and is treated by above knee amputation or hip disarticulation.
Figure 1. A four-year-old girl born with a left below elbow amputation (A). She wears a Munster-type below elbow prosthesis with CAPP hand and figure of 8 suspension. It is somewhat short and well worn in appearance (B). She wears it during waking hours and uses it lor all naturai functions (C). She was fitted at six months of age.
The nomenclature used for further classification has caused confusion. Certainly distinguishing the upper extremity from the lower extremity presents no problems and there is general agreement that the absent part is named - a child with a radial club hand has absence of part or all of the radius, usually some of the lateral digits and marked radial dislocation of the hand on radially bowed forearm. One approach is based on tradition. The radial club hand has been well described as have the proximal femoral focal deficiencies (PFFD), an intercalary defect. Another corresponds to the terminology used for the appropriate replacement prosthesis; a partial foot amputee, a below knee amputee, a shoulder disarticulation amputee, etc. A more rigorous classification divides limb deficiencies into longitudinal and transverse, intercalary or terminal.3 Partial deficiencies are referred to as hemimelias (hemi, half [L]; melia, limb [Gr.]) or meromelias (mero, part [Gr.]). Thus the radial club hand becomes a "terminal longitudinal radial meromelia", rather cumbersome in speech. Since the role of language is to communicate simply and accurately, some knowledge of each of these terminologies is indicated, but the form used depends upon the listener: to the prosthetist, a partial hand; to the orthopaedist, a lobster claw hand; rarely a central terminal longitudinal carpal meromelia.
Figure 2. This 10-year-old boy was born with a fibrosarcoma that was cured by right hemipelvectomy at five days of age (A). He was fitted with a pylon-prosthesis at nine months and is now wearing a Canadian-type hip disarticulation prosthesis with SACH foot (B). Although he has been a behavior problem in school, he continues to improve. His mother is exhausted by his activity level. This prosthesis is clean and new but he received it on the day of the photograph. From past experience, in a few months it will show the ravages of heavy use.
THE CHILDREN'S AMPUTEE CLINIC
The majority of limb deficient patients should be treated in a multidisciplinary amputee clinic. Our clinic is staffed with an orthopaedist, physiatrist, a nurse coordinator, a prosthetist, an occupational therapist, a physical therapist and a psychologically-trained social worker. The organization of the clinic is important so care can be given efficiently and effectively. All members of the team do not necessarily see the patient each visit, but may see the patient frequently at other times when their expertise alone is required. All are available when needed and supported by other professionals such as a hand surgeon, geneticist, psychologist or psychiatrist, etc. A clinic which is stably staffed is positive and supportive to the child and his family. During the clinic, discussion between families is also helpful. We also have formed an amputee camp where adolescent amputees can socialize and discuss their problems with a member of the clinic staff or with each other under the guidance of a trained discussion leader familiar with the problems of amputees.4 For the family with a newborn limb deficient child, early introduction to the clinic is helpful so that parental apprehension and the child's future can be discussed openly in a constructive way. This should be done despite the fact that beyond setting up an infant stimulation program no definitive treatment may be indicated at the time. It is very easy to postpone this discussion, since limb function really doesn't become a major problem until the child is old enough to sit.
Early prosthetic fitting is now the rule. A plaster cast ("hard dressing") is now frequently used after surgical amputation and temporary and /or permanent prosthetic fitting is done at an early stage. Although chemotherapeutic treatment of a potentially residual tumor can cause changes in stump girth, we feel this can be accommodated and the psychological benefit outweighs the increased effort.
In upper extremity congenital single limb deficiencies, the infant should be fitted as soon as he can sit, making him accustomed to the prosthetic weight as well as its availability to him for bimanual function. A nonarticulated terminal device is used until the occupational therapist, who is responsible for training an upper extremity amputee, says his hand coordination warrants an articulating terminal device which will provide pinch (usually 12-16 months of age). We have been happy with the CAPP (California Amputee Prosthetics Project) terminal device. Later, the more classical Dorrance Hook may provide better function or an interchangeable cosmetic hand may provide a more acceptable appearance for some occasions in adolescence. Initially prosthetic prescriptions are kept simple and with the appropriate fabrication a prosthesis will last approximately two years during growth. Switched or myoelectric (EMG surface electrode) controlled powered prostheses are used for the high single arm amputees (such as those with a forequarter or shoulder disarticulation) or bilateral upper extremity amputees. In the latter group it is surprising how much foot function can be used since no prosthesis provides sensate skin which is paramount for a good dominant hand function.
Lower extremity amputees are usually fitted at 10 to 12 months, the age a child develops standing balance. Initially, prescriptions again must be simple and restricted because size limits the use of the more complicated friction controlled knees, etc. It is truly amazing how rapidly the young child learns to use his prosthesis under the guidance of a trained physical therapist. Sports are available to these children as they get older. It is amazing to watch the graceful single track skiers at Winter Park, Colorado. One of our above knee amputees was on a high school championship basketball team!
Judicious surgery has much to offer many of these children. Whenever possible, surgical amputation in a child should be through the joint, a disarticulation. A routine below knee amputation will frequently result in multiple revisions for bony overgrowth of the stump. Reconstruction can also be helpful where procedures are well established and of proven success; however, the temptation to undertake a multiple stage reconstruction procedure must be resisted when the results are difficult to predict and prosthetic solutions are functionally excellent. If surgery is done it must be carefully timed so that it does least to interfere with the growth and development of the child. Thus in a child with a severe unilateral PFFD who has a severely shortened leg, deficient hip joint, but normally appearing misplaced foot, early amputation of the foot through the ankle with preservation of the heel skin is important. Postponing this surgery beyond 9 months delays standing and increases the family's natural anxiety about ablative surgery. This allows a satisfactory prosthesis to be fit by the time the child is ready to stand. Later when the secondary ossifications at the knee have developed (age three to five), knee fusion will provide stability in the thigh segment and allow the child to use a more cosmetically acceptable prosthesis with improved alignment before he enters grade school. With the help of an understanding parent and teacher, who can satisfy the initial natural curiosity of the child's classmates, these children usually make a successful school adjustment. Surgical revision is rarely indicated in the upper extremities where all parts with sensate function should be preserved. The Kunkenberg reconstruction may be helpful for the rare child with bilateral amputation, at the wrist on one side, wrist or higher on the other side. By separating the radius and ulna, sensate pinch can be provided by the forearm.
I have great hope for the future of these limb-deficient children. They cannot be restored to normal in the foreseeable future, but they can become productive members of our society. In an age where handling information is the primary work and this information is manipulated and communicated electronically, even major upper extremity amelias (complete loss of the arms) can use a modified computer terminal at home. However as physicians, we must take a leading role in helping the limb deficient child obtain the social contact and acceptance that we all need as social animals.
1. Goldberg MJ, Baltoshesky LE, O'Toole D; The pediatric amputee, an epidemiologic survey. Onhop Rev 10(IO):49-54, 1981.
2. Doering PL, Stewart RB: The extent and character of drug consumption during pregnancy. JA MA 239(9):843-846, 1978.
3. Frantz CH, O'Rahilly R: Congenital skeletal limb deficiencies. J Bone Joint 5t/rg43A:l202-1224, 1961.
4. Clark M, McCloskey S, Anderson L: Camp-workshop for adolescent amputees. Inter-clinic Information Bulletin ll(pts 5 and 6): 1-6, 1977.