Pediatric Acquired Upper and Lower Limb Deficiency

Disease/Disorder

Definition

Acquired upper and lower limb amputations in children are described using similar nomenclature as adult amputations, based on the level of limb loss. In the upper extremity, levels from proximal to distal include shoulder disarticulation, transhumeral (above elbow), elbow disarticulation, transradial (below elbow), wrist disarticulation, and partial hand. Lower extremity amputations (proximal-distal) include hemipelvectomy, hip disarticulation, transfemoral (above knee), knee disarticulation, transtibial (below knee), ankle disarticulation, and partial foot.

Etiology

Acquired amputations in children have a wide variety of causes. Traumatic causes of limb loss in children include severing injuries, crush injuries, blast injuries (i.e., from explosives), or burns. Children are also susceptible to illness-related causes, such as tumors, vascular etiologies (i.e., thrombosis due to infectious disease or frostbite), and complications from infections (i.e., extensive necrosis). Some acquired amputations are a result of surgical conversions of congenital limb deficiencies, such as ablation of a foot in a child with proximal femoral focal deficiency. Distal sites are at the highest risk for acquired amputations. The average age of acquired amputation is 6.18 years. Males are three times more likely than females to have an acquired amputation. A limb being caught between objects is the leading cause of all amputations with finger amputations being the most common presentation. Other common traumatic amputation mechanisms include limbs caught in machinery such as powered lawn mowers, motor vehicle collisions, gunshot wounds and off-road transport.¹ The majority of serious injuries with resulting amputation occur to the lower limb, and most children with acquired limb deficiency have involvement of only one limb. Osteosarcoma is the most common etiology in children over 10 years old and Ewing sarcoma occurs in children under 10 years old.

Epidemiology including risk factors and primary prevention

Since trauma is the most common cause of acquired amputations, prevention is key. In rural areas, children sustain amputations from lawnmowers, farm equipment, and high-tension wire injuries. In the 1-4 year-old group, household injuries and lawnmowers pose the greatest risks. Older children are more commonly injured by car or motorcycle crashes, burns, gunshot wounds, or power tools. Propeller injuries from boats also occur. Internationally, blast injuries as a result of landmines remains a significant source of limb loss. Public awareness and political activism for removal of existing land mines and banning the manufacture of mines would reduce injuries to children, who are now the primary victims.²

Multiple national organizations are attempting to design policy and inform the public on gun safety and child access to firearms to prevent gunshot wounds.³ Catastrophic injuries to children resulting in major morbidity or mortality may be more than 70% preventable.² Access to pediatric acute care through general acute care hospitals or children’s hospitals is available within a one hour drive of most counties in the United States, though the expansion of easily accessible pediatric care including those with trauma capabilities is necessary for prompt evaluation of injury and potentially minimizing limb loss.⁴

In addition to trauma, childhood cancers such as osteosarcoma and Ewing’s sarcoma cause a large burden of lower limb acquired amputation. Access to adequate pediatric care (including specialists such as oncologists, orthopedic surgeons, and physiatrists) and early detection of cancer may help prevent morbidity and complications of lower limb amputation.⁵

Patho-anatomy/physiology

Limb salvage versus definitive amputation depends on the nature of the injury and the integrity of the remaining structures. Careful consideration of potential prosthetic fit, vascular supply, innervation, skin integrity, and musculature of the residual limb must be considered. Ideally, the patient would be managed by an orthopedic, vascular, and/or plastic surgeon. Pediatric rehabilitation physicians should be consulted for functional considerations of surgery type and to get involved early for long term management of a prosthetic and residual limb. When amputation is warranted, the surgical team should aim to conserve as much of the viable physis as possible to allow for bone development in a growing child.^2,6 When forming the stump of the residual limb, surgeons may choose to anchor distal antagonistic muscles together at the end as a myoplasty or anchor distal muscles directly to the bone through myodesis. Following acute amputation care, the residual limb should be monitored for signs of contraction and rigid dressings should be considered for prevention and overall protection of the limb. Once the wound has healed, a shrinker should be used to form the limb and prepare for a more appropriately fitting prosthetic.⁶

Disease progression including natural history, disease phases or stages, disease trajectory (clinical features and presentation over time)

• New Onset/Acute: Acute acquired amputations in children may present challenges to wound healing from irregular residual limbs or presence of skin grafts. Immediate postoperative prosthetic fitting may be appropriate in children old enough to understand and cooperate with weight-bearing restrictions. Many children have post-operative surgical and neuropathic pain. Prosthetic fitting and functional prognosis may correlate with the mechanism of injury; a transverse amputation may be easier to close and shape compared to a limb that was crushed or one with significant skin necrosis and gangrene seen in cases of sepsis-related vascular compromise. Stump shrinkers and rigid dressings are necessary to prepare the residual limb for prosthesis and prevent contracture that may inhibit future ambulation.⁷
• Sub-acute: Psychological adjustment to disability can be a challenge, and patients should be monitored for signs and symptoms of depression or post-traumatic stress disorder.
• Chronic/Stable: Once wound healing is complete, options for a prosthetic device should be discussed with the patient and family. A prosthetist experienced with pediatric patients can aid in the fabrication of an appropriate device.

Specific secondary or associated conditions and complications

The most common complication in a skeletally immature child is bony overgrowth, or spiking. Bony overgrowth can occur in 5-50% of children and is usually in children with amputations acquired before the age of twelve. This occurs at the terminal end of the residual limb and risk is increased if the amputation is through the metaphysis. Initially, it presents as swelling, warmth, tenderness, or poor socket fit. If untreated, it can cause skin penetration.⁵ Overgrowth most commonly occurs in the humerus, followed by fibula, tibia, and femur. Numerous surgical revisions may be required secondary to the consequences of osseous overgrowth. Osseous overgrowth can be reduced by capping the stump with autologous material from the injured limb as compared to resection and revision or the use of plastic caps.⁶ Terminal overgrowth warrants surgical intervention if there is skin ulceration, persistent pain, and/or an ill-fitting prosthesis as a result. There is a high recurrence rate even after surgical resection in younger children. Leg length inequality or tibia-fibula synostosis can lead to varus deformity. Phantom limb sensation (PLS) and phantom limb pain (PLP) also occur in children at variable rates depending on the mechanism, age at limb loss, and location. The prevalence of PLP due to congenitally-related amputation is lower than the prevalence due to a traumatic amputation and cancer-related amputations.^8,9 In those with traumatic amputation, PLP is higher after a lower limb loss than after an upper limb loss.^8,10 Prevention of neuroma formation and PLP includes proximal division of peripheral nerves as well as implantation of nerves into more proximal tissues.⁶

Essentials Of Assessment

History

A comprehensive history should include the cause of limb loss, surgical history, and level of injury. Documentation of a developmental assessment, understanding previous and current functional status, and identifying comorbidities such as vision, cognitive, or hearing impairments is important. The child’s hobbies and recreational interests should be elicited, including parent and child goals for resuming these activities. Assistive devices should be provided to allow participation in desired activities. In the case of acquired amputation due to tumor, it is important to understand whether limb salvage procedures were attempted prior to the amputation.⁸

Physical examination

Range of motion of the joints of the residual limb must be assessed, as well as strength of muscles crossing those joints. The provider should take note of any contracture that may have occurred in the healing process post-operatively or interim during rehabilitation. Residual limb length and discrepancy of limb lengths relative to an intact contralateral limb should be monitored, as well as joint alignment with the contralateral lower extremity. The residual limb should be evaluated for tenderness or swelling. Skin integrity should be assessed, with special attention given to pressure intolerant portions of the residual limb. It is important to provide a comprehensive evaluation to avoid missing concurrent injuries, even if the limb loss is the most obvious.

Functional assessment

During assessment of mobility status in a child with a lower extremity limb loss, it is important to evaluate appropriateness of current prosthetic and assistive devices. Self-care skills should be assessed at a developmentally appropriate level. There may be special equipment for the child with upper extremity limb loss to assist with activities of daily living (ADLs). Cognitive assessment for both a typical and developmentally delayed child is critical to prescribing an appropriate prosthetic device and guiding therapy goals. WeeFIM is used to measure functional outcomes. K-levels are used in adult lower extremity amputees to guide prosthetic prescriptions, and this scale can be helpful for a clinician to think about appropriate prosthesis prescribing in older children or adolescents. Comorbid injury/disability and potential desire to return to higher-level activities such as sports should be considered when determining appropriate prosthetic type.

Imaging

After acquired limb loss, x-rays, CT scans, and MRI scans are useful to determine the integrity of the remaining structures in the residual limb. X-ray can characterize bony overgrowth in a child with remote acquired limb loss. Ultrasound may help identify areas of infection or neuromas in children experiencing residual limb pain.¹¹

Early predictions of outcomes

Cognitive status, age at the time of limb loss, social support, and level of amputation contribute to the determination of ultimate functional status.

Environmental

Home set-up is important for prosthetic and assistive device planning. Knowing about the child’s environment, leisure activities, and community set-up is important to choose an appropriate prosthesis. Prostheses should be selected that will help the child achieve their functional, leisure, and vocational goals.

Social role and social support system

It is important to gauge the family’s acceptance of a prosthetic device prior to prescribing one, as well as their willingness to have their child participate in therapy and return for follow-up visits with the physician and prosthetist. Without parental support, it is unlikely that a child will become a functional prosthetic user.¹² Quality of life studies show children do well with daily activities but there is a decline in scores for high-level activities and sports depending on functional level. Amongst those with lower limb amputation, race/ethnicity, gender, and income level do correlate with different levels of functional mobility, endurance, and quality of life measures. White men and those with higher income levels generally perform better than men of color, white women, and lower income counterparts.¹³

Professional issues

In children with tumors and severe trauma, the decision between limb salvage procedures versus early amputation can be controversial.

Rehabilitation Management and Treatments

Available or current treatment guidelines

Surgical guidelines differ for pediatric acquired limb loss in comparison to those for adults, including preserving as much length as possible, maintaining integrity of growth plates, choosing disarticulation rather than transosseous amputation, keeping the knee joint, and stabilizing proximal portions of the limb. A multidisciplinary team including pediatric physiatry, physical therapy, and occupational therapy is important during the decision-making process for surgical intervention and may help with determining functional coping strategies for patients undergoing surgery.

Prosthetic replacement for growth is indicated for children with extremity amputations annually for the first 5 years of life, every 2 years from ages 5-12 years, and then every 5 years. Components must be evaluated for age-appropriateness, considering comfort, weight, durability, cosmesis, and function, as well as maintenance availability.

Patients with multiple and/or bilateral lower extremity limb loss may require a wheelchair for long distances or when their prosthesis is requiring repair. Adaptive or gait aids may be required for maximal function after upper or lower extremity amputation, respectively. Children with multiple high-level amputations may choose these alternatives to function without prostheses. The majority of children with single limb loss show adequate psychosocial adjustment and can participate in most age-appropriate activities with trained use of their prosthetic. Intensive therapy is not typically required.  Regular monitoring of prosthetic fit, skin integrity, and bony overgrowth is important to prevent complications.

The choice to attempt limb salvage versus amputation is without firm guidelines, with most research based on osteosarcoma patients rather than those with traumatic causes of limb loss. Studies have found similar mortality and long-term outcomes for both salvage and amputation, but limb salvage may potentially lead to additional procedures as well as higher rates of complications such as infection, deconditioning, or contractures. Patients with an endoprosthesis require more restrictions, like avoiding contact sports, which the patient may not be compliant with, resulting in further complications. Limb sparing techniques vary. Examples include arthrodesis, arthroplasty, free flaps, and rotationplasty.^14,15

At different disease stages

Recommendations for prosthetic fitting for children with acquired amputations are similar to those for congenital limb deficiency.

Younger children have an easier time adapting to new hand dominance. Children as young as 5 years of age may be independent with donning lower limb prostheses. Wear time of the prosthetic device is related to comfort, appearance, and ease of repair; it also correlates with parents’ ratings of satisfaction.² Unsatisfied patients often have less independence and more disability.

Coordination of care

Care of children with acquired amputations is ideally interdisciplinary, with coordination between surgical and rehabilitation providers. A multidisciplinary team can include physiatry, orthopedics, a prosthetist, physical therapist, and an occupational therapist. Additional services from psychology, child life, and recreational therapists are extremely helpful members of the care team when available.

Patient & family education

Families should understand weight control in order to optimize prosthesis use and mobility. Body temperature regulation can be disrupted due to loss of body surface area. Children with multiple and/or high levels of amputation may become febrile more easily or have higher fevers. There may be an increase in flushing or sweating due to decreased skin surface area to dispel heat.

Parents should be taught how and when to assist their child. Therapists can work with families to establish a home program for range of motion, strengthening, and function. Parents should encourage prosthetic use and problem solving through trial and error. The prosthesis should be incorporated into regular play.

Emotional support is essential for children with acquired limb amputations in an age appropriate manner. Special populations, such as burn patients, have significant psychological burden, body dysmorphia, post-traumatic stress disorder (PTSD) and other concomitant mental health issues that require intentional long-term management.¹⁶ Equally important is psychological support for parents of those children. Children younger than six may benefit from using dolls or puppets to help them understand the changes taking place in their bodies. Older children may benefit from contact with peers who have limb loss or participation in sports programs. Cognitive behavioral therapy has proven useful in children experiencing depression, anxiety, or PTSD as a result of limb loss.⁶

Financial burden of amputation

Aside from the psychosocial and physical impact of limb loss, the financial impacts are significant. The costs of hospital stays, rehabilitation, and prosthetic and assistive devices differ between etiology of limb loss.  Analyses found the cost of acute care stays for traumatic amputations have ranged from $20,000 to $50,000, depending on the frequency of debridement and revision. Firearm-related injuries were found to have higher length of stays and more frequent surgeries attributing to overall higher costs. With the recommended schedule for prosthetic replacements, lower limb prostheses may end up costing approximately $100,000 by the time the child is 18 years old.¹⁷ In addition, supplemental prostheses for hobbies and other interests are not typically covered by insurance due to a perception that these are purely recreational and not medically necessary.

Emerging/unique interventions

There are advances in surgical techniques for amputee patients. In adults, surgical innovations such as targeted muscle reinnervation (TMR) for the prevention of neuroma formation and PLP,¹⁸ targeted nerve implantation (TNI), regenerated peripheral nerve index (RPNI), and surgical sensory implants are being investigated. Other techniques include research in intracortical microstimulation (ICMS) and osseointegration of prostheses into bone. Osseointegration may be beneficial for children who cannot tolerate traditional socket prostheses and may provide greater range of motion. Virtual reality has also been used to optimize function and use of prosthesis. TMR and TNI have been explored to help with terminal neuroma pain.

Translation into practice: practice “pearls”/performance improvement in practice (PIPs)/changes in clinical practice behaviors and skills

Early prosthetic prescriptions can help increase patient acceptance and functional use of the device. Sockets can accommodate circumferential growth more easily by adding one or several inner socket layers that can be removed, also known as onion skinning. SACH feet are lightweight and durable. Anterior foot alignment promotes stability. Exoskeletal shanks are used for increased durability in younger children. Children can tolerate more distal loading of residual limbs than adults. Alignment of the lower limb prosthesis is usually abducted and flexed for infants and wide based with external hip rotation for toddlers to most closely mimic typical gait in these very young children.

Cutting Edge/Emerging and Unique Concepts and Practice

Myoelectric devices for the upper extremity are being used in younger amputees. As new components are developed and prostheses become more lightweight, they may be more adaptable to pediatric patients with limb loss. Tridimensional (3D) printing is becoming more widely used as a cost effective option for upper extremity amputations.¹⁹ However, quality evidence to support functional outcomes is lacking.²⁰ Computer aided designs are starting to be incorporated for prosthesis fabrication. Brain-computer interfaces through the use of electroencephalograms and even implanted sensors may allow for encoding and control of more complex prosthetic movements in the future.²¹ Functional outcomes for pediatric amputation continue to be evaluated, with some validated examples including ABILHAND-Kids as a way of assessing children with upper-limb deficiency.²²

Gaps in the Evidence-Based Knowledge

Early amputation versus limb-sparing procedures remains controversial in relation to functional outcomes. While studied in adults, there is insufficient evidence for functional improvement through the use of weight-supported training (i.e., partial body weight support training) in pediatric patients.²³  Interosseous integration and the use of brain machine interfaces to control prostheses are new interventions that have not been explored in the pediatric population. Chronic pain and PLP incidence in adults who had pediatric limb loss is an important indicator of long-term quality of life.²⁴ Community-based gait performance measures for K-level assessment, validated outcome tools including those for long-term adult function, and other functional scales for pediatric patients are needed.²⁵

References

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2. Herring JA, Birch JG, eds. The Child with a Limb Deficiency. American Academy of Orthopaedic Surgeons; 1998.
3. Orantes C, Chan HK, Walter D, Chavez S, Ugalde IT. Pediatric firearm injury epidemiology at a level 1 trauma center from 2019 to 2021: including time of the COVID-19 pandemic. Inj Epidemiol. 2023;10(Suppl 1):41. doi:10.1186/s40621-023-00448-3
4. Chien AT, Pandey A, Lu S, et al. Pediatric Hospital Services Within a One-Hour Drive: A National Study. Pediatrics. 2020;146(5). doi:10.1542/peds.2020-1724
5. Horsch A, Gleichauf S, Lehner B, et al. Lower-Limb Amputation in Children and Adolescents-A Rare Encounter with Unique and Special Challenges. Children. 2022;9(7). doi:10.3390/children9071004
6. Khan MAA, Javed AA, Rao DJ, Corner JA, Rosenfield P. Pediatric Traumatic Limb Amputation: The Principles of Management and Optimal Residual Limb Lengths. World J Plast Surg. 2016;5(1):7-14. https://www.ncbi.nlm.nih.gov/pubmed/27308235
7. Khan MAA, Javed AA, Rao DJ, Corner JA, Rosenfield P. Pediatric Traumatic Limb Amputation: The Principles of Management and Optimal Residual Limb Lengths. World J Plast Surg. 2016;5(1):7-14. https://www.ncbi.nlm.nih.gov/pubmed/27308235
8. Melzack R, Israel R, Lacroix R, Schultz G. Phantom limbs in people with congenital limb deficiency or amputation in early childhood. Brain. 1997;120 ( Pt 9):1603-1620. doi:10.1093/brain/120.9.1603
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10. Poor Zamany Nejatkermany M, Modirian E, Soroush M, Masoumi M, Hosseini M. Phantom limb sensation (PLS) and phantom limb pain (PLP) among young landmine amputees. Iran J Child Neurol. 2016;10(3):42-47. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4928615/
11. Aydemir K, Demir Y, Güzelküçük Ü, Tezel K, Yilmaz B. Ultrasound Findings of Young and Traumatic Amputees With Lower Extremity Residual Limb Pain in Turkey. Am J Phys Med Rehabil. 2017;96(8):572-577. doi:10.1097/PHM.0000000000000687
12. Soldado F, Kozin SH. Bony overgrowth in children after amputation. J Pediatr Rehabil Med. 2009;2(3):235-239. doi:10.3233/PRM-2009-0089
13. Clemens SM, Kershaw KN, Bursac Z, Lee SP. Association of Race, Ethnicity, and Gender to Disparities in Functional Recovery and Social Health After Major Lower Limb Amputation: A Cross-sectional Pilot Study. Arch Phys Med Rehabil. 2024;105(2):208-216. doi:10.1016/j.apmr.2023.10.003
14. Robert RS, Ottaviani G, Huh WW, Palla S, Jaffe N. Psychosocial and functional outcomes in long-term survivors of osteosarcoma: a comparison of limb-salvage surgery and amputation. Pediatr Blood Cancer. 2010;54(7):990-999. doi:10.1002/pbc.22419
15. Berner JE, Dearden A, Magdum AA, et al. Safety of limb-salvaging surgery for sarcomas compromising major vessels: A 15-year single-centre outcomes study. J Plast Reconstr Aesthet Surg. 2021;74(9):2076-2084. doi:10.1016/j.bjps.2020.12.048
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19. Bhat AK, M V, Acharya AM. Functional Assessment of 3D Printed Prosthesis in Children with Congenital Hand Differences-A Prospective Observational Study. J Hand Surg Asian Pac Vol. 2021;26(4):535-544. doi:10.1142/S2424835521500508
20. Manero A, Smith P, Sparkman J, et al. Implementation of 3D Printing Technology in the Field of Prosthetics: Past, Present, and Future. Int J Environ Res Public Health. 2019;16(9). doi:10.3390/ijerph16091641
21. Al-Quraishi MS, Elamvazuthi I, Daud SA, Parasuraman S, Borboni A. EEG-Based Control for Upper and Lower Limb Exoskeletons and Prostheses: A Systematic Review. Sensors . 2018;18(10). doi:10.3390/s18103342
22. Della Bella G, Santecchia L, Luttazi P, et al. The use of ABILHAND-Kids in children with unilateral congenital below-elbow deficiencies and acquired amputation: An Italian cross-sectional study. Children (Basel). 2024;11(8):988. doi:10.3390/children11080988
23. Highsmith MJ, Andrews CR, Millman C, et al. Gait training interventions for lower extremity amputees: A systematic literature review. Technol Innov. 2016;18(2-3):99-113. doi:10.21300/18.2-3.2016.99
24. Döring K, Trost C, Hofer C, et al. How common are chronic residual limb pain, phantom pain, and back pain more than 20 years after lower limb amputation for malignant tumors? Clin Orthop Relat Res. 2021;479(9):2036-2044. doi:10.1097/CORR.0000000000001725
25. Koenig KD, Hall MJ, Gormley C, et al. Clinical outcomes measurement in pediatric lower limb prosthetics: A scoping review. J Pediatr Rehabil Med. 2024;17(2):147-165. doi:10.3233/PRM-230014

Original Version of the Topic

Ashlee M. Goldsmith, MD; Linda Michaud, MD. Pediatric acquired upper and lower limb deficiency. 9/20/2014.

Previous Revision(s) of the Topic

Talia Collier, MD, Gabrielle Nguyen, MD, Mariella Hillebrand, MD. Pediatric acquired upper and lower limb deficiency. 6/28/2018.

Mariella Hillebrand, MD, Talia Collier, MD. Pediatric Acquired Upper and Lower Limb Deficiency. 9/23/2021.

Author Disclosure

Glendaliz Bosques, MD
Nothing to Disclose

Jeremy Holden, DO
Nothing to Disclose