Friday, October 7, 2011

Day #7-Atlantoaxial Instability (AAI) in children with Down Syndrome

I thought I would put some information about one of my biggest fears on here regarding things that are "common" with kiddos with Down syndrome...

AAI denotes increased mobility at the articulation of the first and second cervical vertebrae (atlantoaxial joint). The causes of AAI are not well understood but may include abnormalities of the ligaments that maintain the integrity of the articulation, bony abnormalities of the cervical vertebrae, or both.

In its mildest form, AAI is asymptomatic and is diagnosed using X-rays.....Symptomatic AAI results from subluxation (excessive slippage) that is severe enough to injure the spinal cord, or from dislocation at the atlantoaxial joint.

Approximately 15% of youth with DS have AAI. Almost all are asymptomatic. Some asymptomatic individuals who have normal X-rays initially will have abnormal X-rays later, and others with initially abnormal X-rays will have normal follow-up X-rays; the latter change is more common....

The neurologic manifestations of symptomatic AAI include easy fatiguability, difficulties in walking, abnormal gait, neck pain, limited neck mobility, torticollis (head tilt), incoordination and clumsiness, sensory deficits, spasticity, hyperreflexia...and {other spinal cord} signs and symptoms. Such signs and symptoms often remain relatively stable for months or years; occasionally they progress, rarely even to paraplegia, hemiplegia, quadriplegia, or death. Trauma rarely causes the initial appearance or the progression of these symptoms. Nearly all of the individuals who have experienced catastrophic injury to the spinal cord had weeks to years of preceding, less severe neurologic abnormalities....

Most importantly, symptomatic AAI is apparently rare in individuals with DS. In the pediatric age group, only 41 well-documented cases have been described in the published literature....

Asymptomatic AAI, which is common, has not been proven to be a significant risk factor for symptomatic AAI....

The efficacy of the intervention to prevent symptomatic AAI has never been tested. Sports trauma has not been an important cause of symptomatic AAI in the rare patients with this disorder; only 3 of the 41 reported pediatric cases had initial symptoms of AAI or worsening of symptoms after trauma during organized sports participation. Members of the SO Medical Advisory Committee think that more such sports-related injuries occur but that they are being overlooked because of a lack of information about the association of AAI and spinal cord injury among health care providers. This claim has not been substantiated with published research.

(information from http://ds-health.com/aai.htm)

So, what this information says to me is GET YOUR KID CHECKED!

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