Today we're going to talk about pediatric limb deficiencies. I have no relevant disclosures. Today's learning objectives are to discuss the incidence, etiology, and classification of congenital limb deficiencies, terminology, common upper and lower limb deficiencies, interventions, prosthetic treatment, and adaptive equipment, therapy and training, and fitting timetable. So congenital deficiencies. Epidemiologic surveys have shown limb deficiencies to occur in the range from 5 to 9.7 per 10,000 live births with a ratio of 3 to 1 upper to lower extremities, usually identified on routine ultrasound. If a limb deficiency is detected, then a more detailed ultrasound can be ordered, as well as an amniocentesis or chordocentesis can be checked to look for different syndromes. Prenatal counseling is also beneficial. Congenital limb deficiency occurs as a result of failure of formation of part or all of the limb bud. Mesodermal formation of the limb occurs at 26 days gestation and continues with differentiation until 8 weeks gestation. The various limb segments develop in approximal to distal order so that the arm and forearm develop before the hand and the thigh and leg before the foot. Upper limb deficiencies are more commonly associated with other anomalies, particularly craniofacial, cardiac, and hematological disorders due to chronology of development during the first trimester. Bilateral deficiencies are more commonly seen with craniofacial abnormalities. Risk factors include maternal diabetes, including gestational diabetes. Smoking increases the risk of digit anomalies. Medications such as thalidomide, valproic acid, and calcium channel blockers. Maternal exposure to chemicals, for example agriculture. Uterine abnormalities. Also note, taking prenatal vitamins can help reduce the risk of limb deficiencies. Amnionic Ban Syndrome is associated with fibrous bands that may constrict the limbs. Postnatal problems such as gangrene from vascular emboli or a neonatal injury from vascular compromise secondary to umbilical catheters may require immediate amputation. Although these are not congenital, the clinical issues are more similar to congenital disorders than acquired. Many clinics still classify deficits by the FRANS classification system. This breaks it down into terminal and intercalary. Terminal stands for complete loss of the distal extremity, whereas intercalary absence of intermediate parts with preserved proximal and distal parts of the limb. These deficits are then further divided into longitudinal and horizontal deficits. The International Society for Prosthetic and Orthotics has adopted a definitive system for congenital deficiencies, breaking deficiencies down between transverse and longitudinal deficiency. A transverse deficiency has no distal remaining portions, whereas the longitudinal deficiency has distal portions. The transverse level is named after the segment beyond which there is no skeletal portion. Longitudinal deficiencies name the bones that are affected, beginning with the most proximal long bone. Any bone not named is presumed present and of normal form. The affected bone is designated as totally or partially absent. The approximate fraction of the limb in a transverse deficiency is estimated in thirds, while the longitudinal deficiencies are described as a partial or complete bone absence. Involved digits are then identified. Digit numbering proceeds from the radial or tibial side of the limb. Ray refers to the metacarpal or metatarsal and corresponding phalanges. Now we'll discuss acquired amputations. The terminology for upper extremity is shoulder disarticulation, transhumeral or an above elbow amputation, an elbow disarticulation, transradial below elbow amputation, wrist disarticulation, and partial hand. The lower extremity consists of translumbar, which is a hemicorpectomy, transpelvic or hemipelvectomy, hip disarticulation, transfemoral or above knee amputation, knee disarticulation, transtibial or below knee amputation, ankle disarticulation, for example a sign, void, or pyrigoph, and a partial foot, for example, Chopart or a Liz Frank amputation. Here is just a picture showing you in the pediatric population. The most common cause of acquired amputations are traumatic and due to disease processes. Trauma causes limb loss twice as often as disease. The most common traumatic injuries result from an automobile, motorcycle, and train accidents. Causes can also vary by regions to include farm accidents, lawnmower accidents, and high-tension wire injuries. In older children, vehicular burns, power tools, and gunshot wounds are the most frequent cause of limb loss. Boating accidents can also cause propeller injuries. In younger children ages 1 to 4, lawnmower or household accidents are frequent mechanisms of amputation. A single limb is involved in more than 90% of acquired amputations, of which 60% involves the leg. Male to female ratio is 3 to 1. Tumors are the most frequent cause of amputations due to disease in children. Highest incidence of malignancy is in ages 12 to 21. Most common are going to be osteogenic sarcoma, Ewing sarcoma, and the rare rhabdo sarcoma that are going to result in amputation. Definitive surgery for osteosarcoma depends on the site of the primary tumor and the presence of metastasis. Surgical removal of the affected bone and the surrounding soft tissue remains the treatment of choice, whether by amputation or a limb salvage procedure. Goal is to obtain tumor-free margins when removing a tumor. Limb salvage with an endoprosthesis can be offered to 90% of children with an osteosarcoma. Decision for treatment option is dependent upon aggressiveness of tumor, the stage, the responsiveness to neojunct therapy, and the likelihood of obtaining tumor-free margins. Chemotherapy has been proven to be a useful adjunctive therapy to surgery with a 60 to 70% survival rate. Therapy is important to improve functional outcomes, whether it be physical therapy or occupational therapy or in most cases both. Infectious emboli from meningococcysemia may auto amputate limbs or digits. Pneumococcal septicemia also can produce puripura fulminans, characterized by acute onset of rapidly progressive hemorrhagic necrosis of the skin in thrombosis. The principle of childhood amputation surgery guides one to optimal function. The goal is to conserve all limb length as possible is true for children as well as adults. A disarticulation preserves the epiphyseal growth plate and ensures longitudinal growth. Disarticulations also avoid the development of terminal overgrowth of new bone. You also want to try to preserve the knee joint whenever possible. You want to stabilize and normalize proximal portions of the limb. Terminal growth at the end of the transected bone is the most common complication following amputation in children. Overgrowth can also occur in congenital anomalies such as amniotic band syndrome. Terminal overgrowth occurs most frequently in the humerus followed by the fibula, tibia, and femur. It can be very painful causing discomfort with prosthesis fit requiring frequent socket modifications. The terminal overgrowth can pierce the skin requiring surgical revision. Unfortunately the problem is likely to reoccur until the child reaches skeletal maturity. Children with congenital limb deficiencies do experience phantom sensation though it is not painful. Children with congenital limb deficiencies are less likely to experience phantom sensations than those with acquired amputations. Of note phantom limb pain rarely occurs in children under 10 but it is reported in teenagers. Now we are going to talk about common upper limb deficiencies. An upper limb prosthesis does not replace the sensory function of a hand. It is best used as a mechanical tool. Acceptance of a prosthesis is variable. Frequently the exposed skin of a deficient limb is preferable to an encased limb. Digital deficiencies they are common but rarely present in isolation. Amniotic band syndrome presents with digital constriction banding and other anomalies are also present such as lower limb amputation in utero. Etiology such as Mobius and Pullen syndromes result in digital deformities are associated with more serious underlying issues. Mobius syndrome often affects cranial nerve six and seven which compromises the child's ability to visually track swallow and communicate whereas Pullen syndrome involves partial absence or ipsilateral pectoralis muscle from the hand anomalies and a hypoplastic chest. Surgery is more likely to occur if the thumb is absent. Another finger may be used as a thumb to create oppositional grasp. Partial hand deficiencies are quite common and are often treated as wrist disarticulation level limb. Nubbins are very small underdeveloped vestigial digits. They are rarely problematic or require surgical removal. Transverse deficiencies of the forearm. A transverse deficiency of the upper third of the forearm is the most common upper limb deficiency. The longer the residual limb the easier it is to fit a prosthesis as there is more surface area to distribute the forces. Rarely do these require surgical intervention. Elbow disarticulation can be challenging to fit a prosthesis due to lack of room to fit prosthetic components and maintain humeral length equality. A transhumeral deficiency is most common to get terminal overgrowth. It becomes increasingly difficult to restore the function of the anatomical arm as the level of deficiency reaches the shoulder or higher. Children with remnant humeri have the ability to use these segments in their activities. Often the axilla will be used to assist these individuals to grasp and manipulate objects. Many of these prosthesis require a degree of body movement to operate the mechanical components. Most of this excursion is not present in a shoulder disarticulation level as glenohumeral flexion no longer exists as a source of control input. Radial deficiencies are seen in the following diseases. Manconi anemia, thrombocytopenia, an absent radius or tar, Holt-Oram syndrome, vader or vertebral defects in perforate anus, tracheoesophageal fistula and renal defects, and Robert syndrome. Ulnar deficiencies are associated more with the MSK conditions than systemic conditions such as Cornelia de Lange syndrome, ulnar mammary syndrome, and ulnar fibula dysplasia. Central Ray syndrome or lobster claw is a form of ectodactyly. It can occur with more ulnar than radial digits are present or can present as two longer and thicker digits. Functional ability varies depending on the degree of the deformity. Reconstruction surgery may be recommended if the child lacks oppositional capabilities that a thumb usually offers. Longitudinal deficiencies of the humerus are often associated with deficiencies of the radius and ulna. If to be fitted with prosthesis will likely require some externally powered components. As stated previously, prosthetic treatment for the upper extremity is not as straightforward as one may think. The inability to provide or restore the function of the human arm and hand poses great challenges to individuals with partial or complete limb loss. The higher the limb absence, the less likely that a child will find a prosthesis useful enough to wear it regularly. For example, transradial patients are more likely to wear their prosthesis than transhumeral patients and transhumeral patients are more likely than shoulder disarticulate patients. So acceptance of the prosthesis is definitely a complex issue so you got to take into account the level of limb, presence of other complicating medical conditions, the comfort and usefulness of the prosthesis, and acceptance of the limb deficiency by the family. Goals of early intervention and training revolve around achieving age-appropriate milestones. Children with upper limb differences usually meet their milestones at or around the same age as children with limb anomalies. You want to start fitting between three to six months of age. Early prosthetic fitting is designed to encourage bimanual tasks, establish a wearing pattern, increase overall independence, provide a symmetrical crawling, and reduce stump dependence or sensory dependence on the end of the residual limb. Early fitting does not guarantee acceptance. Typically, children younger than three years of age have therapy provided in the home. Prone positioning is important for encouraging trunk extension and mobility. As stated before, gross motor milestones are generally not delayed but may be affected by asymmetry opposed by unilateral upper limb deficiencies. The term that has been used to define the most common deficiency of the femur is proximal femoral focal deficiency. On the other hand, congenital short femur differs from PFFD by having the proximal aspect of the femur and intact ipsilateral acetabulum. Although the skeletal structures are quite variable, the clinical presentation for both are quite similar. The femoral section is shorter with a large mass of soft tissue, which includes musculature between the pelvis and the involved knee. Hip posture and stability is variable. All the limbs present with some degree of hip flexion, abduction, and external rotation of the hip. There are multiple surgical options for the congenitally short femur, including no surgery, adding an external fixator to the femur, and ankle disarticulation along with a knee arthrodesis or a rotationplasty. Here are just pictures. The first one is of PFFD, while the second one is a congenital short femur. A longitudinal deficiency of the tibia occurs in one in a million births. The clinical presentation of a longitudinal tibia deficiency may include a varus foot and lower leg, a short leg, and an unstable knee and ankle. The foot may have medial tarsals, metatarsals, and rays missing as well. Treatment options depend on complete versus partial tibia absence. A distal tibia bifurcation may add to the challenge of prosthetic fitting. When there is a complete absence of the tibia, the treatment of choice is a knee disarticulation. The fibula cannot sustain the weight of a mature adult, and the inability of the knee and ankle are too great for corrective measures. For a partial tibial deficiency, the length of the tibia is important. If the tibia segment is short, the surgeon creates a synostosis with the intact fibula in conjunctions with amputation of the foot. If the heel pad is retained, this will provide a walking surface for the child, providing stability without a prosthesis. The most common limb deficiency is the longitudinal deficiency of the fibula. The clinical presentation of the longitudinal deficiency of the fibula, which is completely absent fibula, generally has a foreshortened tibia section and frequently has ipsilateral femoral shortening. The tibia section appears shortened due to bowing of the tibia. Lateral tarsal and ray absences are often associated with this deficiency. Surgery occurs when the child is beginning to pull to stand and cruise. The most common treatment of complete fibular absence is a syme amputation. A few of the less common lower limb deficiencies include those resulting from amniotic band syndrome, central ray syndrome, Robert syndrome, and sacral agenesis. Here is just a picture of amniotic band syndrome. Commonly acquired lower limb amputations in children are a result of trauma, tumor, or infection. Traumatic lower limb amputations are more common than upper limb amputations. Lawnmower accidents often result in partial foot amputations. Train accidents are generally a result from teenagers trying to board a slow-moving train, often high or bilateral amputations as a result of the child being pulled under the wheels of the train. Motor vehicle and farming accidents present with varying amputation levels. Meningiococcemia and staphylococcal infections with the onset of puripura fulminans can be destructive and often leads to multiple limb amputations. Both osteogenic and oohing sarcoma are more prevalent in the lower limb than in the upper limb. Osteogenic sarcoma tends to have a better survival rate. Limb salvage techniques and endoprosthesis in conjunction with chemical and radiation therapies have often averted the need for amputation. Children tend to do well with lower limb prosthesis after requiring little or no formal gait training. Interventions in prosthesis vary depending on the deficiency. And like I said before, prosthesis is more accepted in lower limb amputations or deficiencies because it is required for children to walk and to be mobile. So fitting timetable. The goals in fitting a prosthesis at this young age is to allow for normal two-legged standing, provide a means for reciprocal gait development and to provide a normal appearance. The prosthesis should be a simple in design, allow for growth adjustment, suspend securely and be lightweight. Knee joints are usually added between three and five years of age. Usually the first prosthesis for a leg is gonna occur between nine and 10 months when a child is ready to pull to stand. Goal of physical therapy is develop a normal gait pattern including stride length, step length and philosophy. The focus is on functional goals. Play can be used as primary motivation for desired movements and activities. Each child must be assessed as an individual with consideration given to the child's age, physical abilities, interests and activities. That concludes the presentation. Listed are the resources that were used. Thank you for your time.

pediatric limb deficiencies

prosthetic treatment

adaptive equipment

early intervention

physical therapy

gait pattern