International Encyclopedia of Rehabilitation

Agenesis and Amputation

Jean-Michel Bruandet
Médecin-chef du CRRF Marc Sautelet, Villeneuve-d'Ascq, APF

What is an amputation? What is an agenesis?

Amputation refers to the total or partial absence of any part of an extremity. In the strict sense, amputation refers to the surgical intervention which results in an "amputation".

Limb agenesis, commonly referred to as a 'congenital' amputation, is a developmental anomaly that occurs during the embryonic stage; children with agenesis show skeletal deformities in both upper and lower extremities that are visible at birth.

What are the causes?

Agenesis

Deformities can either occur in an idiopathic form or be due to an embryonic condition (embryopathy): rubella during pregnancy, drug intoxication (thalidomide), etc.

Acquired amputations

It is important to make a distinction between amputations occurring because of an accident and amputations resulting from medical conditions.

Accidental amputations

Children and adults with amputations show varying levels of amputation even though surgeons do whatever is possible to perform amputations at the right level in order to ensure the best functional conditions when fitting prosthesis. In cases of multi-traumas, amputations must be performed as early as possible and to the lowest possible level.

Condition-Related Amputations

Several conditions may lead to an amputation.

Arterite of the lower limb is reported as one of the most important causes of amputation (nearly half of the amputations are performed on lower limbs). This condition normally affects about one woman for ten men, except in diabetic individuals for which the male/female ratio is virtually identical.

Infections (septic injuries): amputations due to an infection are usually caused by open fractures (fractures with an open wound). Indications for amputation are never diagnosed in emergency. They are rather meant to determine at best the length of the stump required to ensure good functioning with prosthesis, and avoid risks of relapse suppurations for the patient.

Tumors: amputations due to a tumor, which are relatively rare when the tumor is benign, are sometimes critical in cases of malignant tumors. Amputations are always performed on the bone segment overlying the affected area. Tumors causing these amputations—whether they are osteosarcomas, chondrosarcomas, or Ewing's sarcomas, etc. — occur in both children and adults.

What are the recommended treatments and management strategies?

There is no doubt that indication for treatment significantly varies according to the cause of amputation or agenesis, from the level of agenesis or amputation, through associated trophic and morphological disorders, to the overall condition of the child or adult.

Treatments following congenital amputations

Congenital amputations or limb agenesis

Occurrences of deformities cause anxiety to the family and are important concerns from the time the child is born. Implications of such deformities are hardly seen in the familial environment and require an accurate analysis of the child's functional deficit, coping skills, and long-term care plan.

Upper limb amputations

Hand, forearm, and arm amputations require the placement of a cosmetic prosthesis made from polyvinylchloride as early as possible, that is to say 3 to 4 weeks after birth, which immediately enables the restoration of the symmetric image of both upper limbs and facilitates all their defence, balance, and span grip responses by reproducing a normal body image.

Functional prostheses are only indicated for children older than 2 or 3 years old. These prostheses comprise an adjustable socket that fits over the stump. Since the last decade myoelectric prostheses, which are powered by the myogenic activity of the agonistic and antagonistic muscles of the residual forearm, have enabled finger flexion and extension movements with grip in children as early as age three or four. This should be done after checking whether myoelectric sensors are functioning properly and developing a training program adapted to the child's needs.

A child before an arm prosthesisA child after an arm prosthesis

Lower limb amputations

Congenital amputations with total resection at specific levels are far less common in lower limbs than in upper limbs. Most often, these amputations are performed on children with partial agenesis in parts of the foot, fibula or even tibia.

Lower limb prostheses must look as similar to the residual limb as possible, with a total-contact socket fitting over the extremity and the sides of the stump and adhering to it. Prostheses must provide a cosmetic aspect to the leg and thigh. They are usually made from solid synthetic material (polyester or tubular material covered with foam), and comprise foam articulated feet and knees with a physiological joint shape.

Future of the congenital amputee children in adulthood

Whether they occur on upper or lower limbs, congenital amputations in adults are prone to the same treatment indications as children.

Following acquired amputations

Traumatic amputations

Following an accident injury, the upper or lower limb amputation performed must be done in order to save the most part of the limb.

Prosthetic equipment is adjusted to the shape of the stump and can be fitted as soon as the stump is healed. This technique is used to reduce the implications of amputation for the amputee, both in terms of behaviors and abilities to cope with functional limitations in activities of daily living, as well as in motor or occupational activities.

In upper limbs, equipment with restoring or cosmetic polyvinylchloride prostheses restores body image and gives a symmetric aspect to the limbs. Fitting is performed as soon as possible. Introduction of a mechanical, and potentially myoeletric prosthesis should always be planned properly. It is achieved in relation to the motor gains progressively acquired and, in the case of a myoelectric prosthesis, to the muscular activity potentials and the absence of trophic disorders in the forearm.

Functional prostheses can be adjusted to different tools. They are designed to enable the amputee to perform activities of all kinds, such as woodworking, painting, driving, welding, etc.

Cosmetic prostheses are most often used to provide figurative characteristics enabling traumatic amputees to be morphologically normal.

In lower limbs, traumatic leg or thigh amputations often result in significant scars, and sometimes even in secondary bone deformities or painful neuromas located at the terminal part of the stump.

The aim of lower limb equipment is to achieve the optimal functional efficacy.

A person before a leg prosthesisA person after a leg prosthesis

There is a strong indication for the use of prosthetic equipment for the leg or thigh with total-contact socket and physiological knee joint, combined with a polyester or tubular-type prosthesis covered in foam and an articulated foot or SACH foot. When fitting does not allow adhesion of muscles at the stump level and requires the addition of a thigh lacer or pelvic band to provide support, it must be limited to indications denying the use of total-contact prostheses.

Amputations resulting from vascular conditions (arterite)

While in individuals with traumatic or infectious condition-related amputations, equipment is typically fitted as early as possible, or immediately, individuals with arterite must be more careful when resuming walking with their prosthetic equipment due to the often-defective vascularization and fragility of the stump skin.

Prosthetic equipment is always possible when using a total-contact socket. Knee joints or feet, if present, must be light and sufficiently functional. Prostheses are made of tubular material covered with foam in order to reduce their weight.

Tumor-related amputations

The healing period of the stump seems more difficult in cases of tumor-related amputations, and osteomyoplasty (surgical intervention aiming at shaping the stump in the most adequate manner possible) is rarely performed. Trophic care with rehabilitation using massages and muscle toning exercises are critical.

Equipment fitted following the resection of a tumor in upper limbs encompasses placement of prostheses identical to the ones that are fitted in cases of trauma-related or even congenital amputations. However, each type of prostheses is goal-specific: to provide better cosmetic characteristics in the case of restoring prostheses; to enhance functional efficacy in the case of mechanical upper limb prostheses, cable-controlled or even myoelectric prostheses, and to support gait abilities in lower limbs. Rehabilitation is achieved over a long period, combining monitoring of the overall trophicity, and assessment of muscular tone, general condition, as well as overall muscular and orthopaedic attributes.

Internal prostheses such as endoprostheses bring about an undeniable success when indication is possible, and are most often performed in lower limbs with the placement of a prosthetic knee. Tubular rods attached to the lower part of the femur and the highest part of the tibia, are meant to preserve the muscle mass.

Conclusions

Whether amputations are congenital, trauma-related, linked to vascular conditions or tumors, the ultimate goal of the care plan should be to recreate functional abilities as early as possible or motor abilities with morphological symmetry and reintegration of body image. Any agenesis or amputation requires the assessment of the muscular and osteoarticular capacities in parts of limbs that are above the agenesis or amputation level.

Psychological responses are always closely related to the accidental event or the sudden onset of the medical, vascular or oncologic condition (tumor).

Today, prosthetic equipment is more specific and encompasses total-contact sockets, lighter material, more reliable technical features with the use of myoelectric hands, and functional lower limb prostheses. Surgical techniques for endoprosthesis placement are increasingly used in cases of amputations related to oncologic conditions.

It is important to differentiate congenital amputations, with which children seem to cope more easily, and adjustment or coping difficulties in cases of traumas or acquired oncologic conditions.

Source

Association des paralysés de France. 1996. Déficiences motrices et handicaps, Aspects sociaux, psychologiques, médicaux, techniques et législatifs, troubles associés. Paris : Association des paralysés de France. 505 p. Used with permission.

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