Motor milestones in children with diastrophic dysplasia

Diastrophic dysplasia (DD), an autosomal recessive skeletal dysplasia, resu lts in short-limbed short stature, generalized joint dysplasia, and spinal, hand, foot, and ear deformities. Children with DD experience both growth a nd motor developmental delays. To quantify the motor developmental delays, data on motor milestone attainment and other important characteristics were collected by retrospective questionnaire on 25 individuals with DD. Means and standard deviations were calculated for time to motor milestone attainm ent and are presented with minimum, maximum, 25th, 50th, 75th, and 90th per centile values. Percentages of individuals who could per-form daily living and recreational tasks were tabulated. The mean times to milestone attainme nt for children with DD are all significantly longer than published means f or nonaffected children. Notably, children with DD roll over at 5.2 +/- 2.2 months, sit unsupported at 8.3 +/- 2.3 months, pull up to a stand at 13.5 +/- 5.8 months, and walk at 24.4 +/- 9.2 months. The data presented here sh ould be useful as preliminary reference standards for motor milestone attai nment in children with DD.