Cervical Spine Disorders : Craniovertebral instability

Overview

At all ages people with Down syndrome are at increased risk for neurological problems caused by cervical spine disorders. In childhood, craniovertebral instability is the predominant issue, occurring in 7– 27% of children with Down syndrome. Symptomatic instability only occurs in 1-2%, but potentially devastating consequences are well documented.

There is no good evidence that asymptomatic individuals are more at risk of cervical spine injury than the general population. Those with Down syndrome should not be barred from any sporting activities unless there are symptoms or signs to suggest instability .Clinical screening criteria have been developed by the British Gymnastics Association for specialised sports such as trampolining.

Identifying those at risk is not straightforward. Routine X ray screening is not recommended as X rays have poor predictive value and can be difficult to interpret.

Emphasis is therefore on recognizing potential warning symptoms of craniovertebral instability, including

• change in gait or use of arms or hands,

• change in bowel or bladder function,

• neck pain,

• stiff neck,

• head tilt,

• how the child positions his or her head,

• change in general function, or weakness.

Clinicians should be aware of signs and symptoms such as:

• Easy fatigability;

• Difficulties in walking;

• Abnormal gait;

• Neck pain;

• Torticollis or head tilt;

• Incoordination and clumsiness;

• Sensory deficits;

• Spasticity;

• Hyper-reflexia;

• Clonus;

• Extensor-plantar reflex;

• Other upper motor neuron and posterior column signs and symptoms.

Symptomatic AAI is an emergency and requires prompt referral to acute services.

Anaesthetists and ambulance personnel should take into account that unconscious children with Down syndrome may be at increased risk of cervical spine injury, especially if they have warning signs of potential craniovertebral instability. Pre-operative X rays in asymptomatic children are not indicated.

Last updated: April 2024 Dr Richard Harrison