Musculoskeletal Disorders

Premature degenerative bone and joint disease in adults with DS is reported in the orthopaedic literature [Dacre and Huskisson, 1988; Olive et al., 1988]. Pain and limitation of movement related to degenerative osteoarthritis is a common concern in our population. Among the middle-aged DS adults, osteoarthritis of the spine is reported in 22% (4/18); none have osteoarthritis of other joints. In the elderly group, 40% (8/20) have osteoarthritis of the spine with five of these eight having osteoarthritis in other joints.

The radiological presentation of spinal osteoarthritis in DS adults is similar to that reported in other geriatric patients, although the symptoms appear to occur at a younger age among patients with DS [Tangerud et al., 1990]. Joint laxity is the attributable cause for early degenerative bone disease, but other factors may also be important.
Common symptoms related to spinal degeneration—paraesthesias, numbness, weakness, and pain—may go unreported in less communicative adults with DS [Voskuhl and Hinton, 1990].

Carpal tunnel disease occurs frequently among DS adults and needs to be con-sidered in the differential diagnosis [Christensen et al., 1998]. To detect spinal degeneration, yearly clinical evaluations require careful neurological examinations assessing for changes in sensation, ambulation, continence, spine mobility, selective muscle atrophy, as well as deep-tendon reflexes. Early loss of ambulation among elderly DS adults is attributable to osteoarthritis as well as Alzheimer disease.

Diagnostic investigations are indicated, since symptoms related to osteoarthritis are treatable [Taylor et al., 1991]. Fractures that are secondary to osteoporosis and trauma are common in our population. In the elderly group, 11/20 have a history of long-bone fractures, 6/20 have fractures of other bones, and 6/20 have documented collapse of vertebral bodies. Paraplegia stemming from a compression fracture of the spine is reported in one middleaged resident who was injured after jumping out a window.