Impairment and activity limitation associated with epiphyseal dysplasia in children

To develop a profile of impairment and activity limitation among children with epiphyseal dysplasia (ED) and to identify the relationship between these 2 domains.

Cross-sectional study.

Acute, pediatric academic and health sciences center.

Eleven subjects with multiple epiphyseal dysplasia (MED) and 17 subjects with spondyloepiphyseal dysplasia (SED), with a mean age of 12.9 years.

Not applicable. Main outcome measures Anthropometric indexes of growth and nutrition, joint range of motion (ROM) and alignment, muscle strength, pain, and activity limitation.

Subjects with SED had significantly shorter stature than the reference population (P<.01). Seventy-three percent of participants with MED and 77% of those with SED were above average or overweight for their height (P<.01). Both groups presented with moderate to severe joint ROM impairment, with greater lower-extremity involvement. Subjects with SED had worse outcomes with respect to overall ROM and alignment impairments (P<.01), particularly in their upper extremities (P<.01), than subjects with MED. Significant overall muscle weakness was noted in all subjects (z=-1.81; P<.01). Ninety-four percent of subjects with SED reported pain with activity, compared with 64% of those with MED (P=.04), although pain intensity did not differ between groups. Fifty percent of subjects had undergone orthopedic surgery. Mild activity limitation was reported by all subjects (mean score, 87.7+/-18.83). Significant correlations were identified between height for age and strength (r=.50) and pain and activity limitation (r=-.50).

Despite moderate to severe impairments, all subjects reported surprisingly mild activity limitation. A positive correlation was identified between pain and activity limitation. This study also identified and described patterns of muscle weakness, pain, and nutritional concerns not previously reported in the ED literature.