Limb deficiency in childhood Limb deficiency in childhood

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Dr Adrienne Epps and Dr Jenny Ault
Senior Staff Specialists
Limb Deficiency Clinic
Rehabilitation Department
The Children’s Hospital at Westmead

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Smith DG, Michael JW, Bowker JH (eds). Atlas of Amputations and Limb Deficiencies: Surgical, Prosthetic, and Rehabilitation Principles (3rd ed.). Rosemont, Il: American Academy of Orthopaedic Surgeons, 2004.

What is limb deficiency in childhood?

Limb deficiency is the absence of all or part of a limb. It can be very disturbing and a great shock to parents, causing a sense of loss and anxiety about the future. Children, however, show a remarkable capacity to adapt and often surprise their parents and others at their ability to find ways around challenging situations.

There are two major types of limb deficiency:

Transverse deficiency refers to amputation or failure to form the distal portion of the limb, such as a missing hand or foot. The most common congenital limb deficiency affecting the upper limb is a transverse deficiency through the forearm, described as a transradial deficiency or below-elbow deficiency, with only rudimentary finger nubbins present at the end of the limb where the hand would have been.

Longitudinal deficiency is the failure of a bone segment along the length of the limb to grow. Usually some toes or fingers are missing on the affected side of the foot or hand. In the lower limbs the most common deficiency is a longitudinal deficiency of the fibula resulting in a short leg with angular deformity of the lower part of the leg and the ankle, instability of the knee, and absence of one or two toes on the side of the foot.

Limb deficiency may be congenital (existing from birth) or acquired (ie amputation).

Congenital limb deficiency refers to the complete or partial absence of the whole or part of a limb due to failure of formation of the limb or loss of a portion of the limb during pregnancy and intra-uterine growth of the unborn child. It may be caused by an interruption to growth of the limb in utero, or part of a syndrome or genetic condition. There are rare syndromes which have limb defects as part of the spectrum of anomalies, or exposure to a toxin or medication (for example Thalidomide) early in the pregnancy may interrupt the growth of a limb.

Acquired limb deficiency or amputation is not as common as congenital limb deficiency in children. Frequent causes of trauma are hands or feet caught in machinery, or motor vehicle and lawn mower injuries. Severe infections and interruptions to the blood supply to limbs (eg meningococcal septicaemia) can cause multiple limb loss. Bone or soft tissue tumours may require amputation as a life-saving measure along with other cancer treatment. Phantom pain can occur after amputation in children and may require treatment.

The purpose of treatment is to improve a child’s function, eg to grip and manipulate objects for play and self-care, to walk and run, and to participate in day-to-day and classroom and playground activities.

Treatment may be through the following:

There are limb clinics at most major children’s hospitals, which are usually run by rehabilitation medical specialists. Allied health support services (physiotherapy, occupational therapy, social work) are available, as well as prosthetists, orthopaedics specialists, genetics specialists and hand surgeons. The paediatric rehabilitation specialist assesses the overall needs of the child and family and coordinates the team involved in the care of the child.

Sometimes surgical treatment is required to improve function, correct angular deformity, provide better joint stability or allow easier prosthetic fitting. One particular surgical intervention offered to improve hand function when the thumb is absent is the pollicisation procedure. This aims to reposition the index finger into the position of the thumb to allow opposition, which improves the general grasping function of the hand.

Coping with a limb difference can be extremely challenging for the child and family. Early support and access to information is critical for parents and extended family. Emotional support may be required at times of transition, such as starting school, moving from primary to high school or to a new school, and in early adolescence when body image issues and identity become increasingly important.

Encouraging a culture of inclusion and acceptance of differences and non-tolerance of bullying or social exclusion is critical. For NSW public schools, see the anti-bullying policy.

For more information Download: Prostheses and adaptive equipment in childhood (.pdf 64kB) to learn more.