Musculoskeletal Effects of Down Syndrome

Down syndrome is one of the most common genetic disorders. It affects about 1 in 800 births. Its primary affect is mental retardation and a number of physical abnormalities. The child may have special medical problems of the heart, stomach, eyes and other parts of the body. Some problems in Down syndrome involve the bones and joints (musculoskeletal system).  

Symptoms

Musculoskeletal effects

A child with Down syndrome may have weak muscle tone (hypotonia). He or she may also have ligaments that are too loose (ligament laxity). This leads to excessive joint flexibility. Associated findings include:  

• Developmental delays. A baby with Down syndrome will eventually reach the same growth milestones as other children. But he or she may be slow in learning to turn over, sit, stand, walk or do other physical activities.  
• Joint instability. Children with Down syndrome may have joints, such as the hip or knee, that slip out of place or become dislocated. Joint laxity in the neck may be excessive. This can lead to compression of the spinal cord.  

Down syndrome may also lead to other problems such as flat feet and bunions.

Risk Factors/Prevention

Early medical intervention. Getting early medical care and treatment (intervention) can improve the health of a child with Down syndrome and address some musculoskeletal problems. Children grow most rapidly during the first three years of life. Ask your pediatrician for a comprehensive medical evaluation as soon as your baby is born.  

Treatment Options

The doctor may recommend a special program of physical therapy, exercise or other activities. Early intervention can help a child with Down syndrome achieve developmental skills and build muscle tone and coordination. It can also give extra stimulation and encouragement to help the child achieve his or her full potential in life. Many children with Down syndrome go on to hold jobs and live independently well into middle age and beyond.  

Treating orthopaedic problems

Early diagnosis and treatment is also important for managing orthopaedic problems in children with Down syndrome. Some children may need splints or other devices for physical activity. Sometimes your doctor may refer you to a pediatric orthopaedist for specialized help or surgery.  

Neck instability

In some people with Down syndrome, the upper part of the spine (cervical) is abnormal under the base of the skull. Muscles are weak and ligaments may be looser than they should be. Potentially, this can cause bones (vertebrae) in the neck to press on the spinal cord, leading to an inability to coordinate muscle movement and weakness. Call the doctor if a child with Down syndrome shows progressive changes, such as:  

• Weakness, clumsiness and tripping  
• Walking with stiff legs  
• Having a stiff neck, neck pain and headaches  

The doctor may recommend taking X-rays of your child's neck to look for joint laxity. In some cases, a child may be kept out of contact sports or other activities that put stress on the neck, such as high jumping, diving, gymnastics and using a trampoline.

Staying active

For a number of reasons, children with Down syndrome may be less physically active; this can lead to weight gain and other problems. Encourage your child to stay active and eat a healthy diet as he or she grows into the teen years. Your doctor can help develop a well-rounded exercise routine, including aerobic activity, strength training and stretching exercises.  

Treatment Options: Surgical

Occasionally, a child with Down syndrome may need surgery to hold the bones in the neck together (spinal fusion).  

November 2004

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