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Motor milestones in children with diastrophic dysplasia
M M Crockett1, M F Carten, O Hurko
1Department of Orthopaedic Surgery, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA.
Insights
Children with diastrophic dysplasia (DD) experience significant delays in motor development, reaching milestones like walking much later than their peers. This study provides reference data for motor delays in children with DD.
Area of Science:
- Pediatrics
- Genetics
- Developmental Biology
Background:
- Diastrophic dysplasia (DD) is an autosomal recessive skeletal disorder.
- Children with DD exhibit short-limbed short stature and various deformities.
- Growth and motor developmental delays are characteristic of DD.
Purpose of the Study:
- To quantify motor developmental delays in children with diastrophic dysplasia.
- To establish preliminary reference standards for motor milestone attainment in DD.
- To assess the ability of individuals with DD to perform daily living and recreational tasks.
Main Methods:
- Retrospective questionnaire data collection from 25 individuals with DD.
- Calculation of means and standard deviations for motor milestone attainment times.
- Presentation of milestone data with percentile values and task performance percentages.
Main Results:
- Children with DD demonstrate significantly longer mean times to achieve motor milestones compared to unaffected children.
- Specific milestone data: rollover (5.2 months), sit unsupported (8.3 months), pull to stand (13.5 months), walk (24.4 months).
- Tabulated data on the percentage of individuals performing daily living and recreational tasks.
Conclusions:
- The study provides valuable preliminary reference standards for motor milestone attainment in children with DD.
- These findings highlight the extent of motor developmental delays in DD.
- The data can aid clinicians and researchers in evaluating and supporting children with this condition.
Abstract:
Diastrophic dysplasia (DD), an autosomal recessive skeletal dysplasia, results in short-limbed short stature, generalized joint dysplasia, and spinal, hand, foot, and ear deformities. Children with DD experience both growth and 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 attainment and are presented with minimum, maximum, 25th, 50th, 75th, and 90th percentile values. Percentages of individuals who could perform daily living and recreational tasks were tabulated. The mean times to milestone attainment for children with DD are all significantly longer than published means for 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 should be useful as preliminary reference standards for motor milestone attainment in children with DD.
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