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Osteogenesis imperfecta: profiles of motor development as assessed by a postal questionnaire
R H Engelbert1, C S Uiterwaal, V A Gulmans
1Department of Paediatric Physical Therapy, University Medical Centre, Wilhelmina Children's Hospital, Utrecht, The Netherlands. R.Engelbert@wkz.azu.nl
Insights
Osteogenesis imperfecta (OI) severity significantly impacts motor milestone development. While intramedullary rodding didn't affect motor skills in OI types I and IV, its effect in type III remains uncertain.
Area of Science:
- Pediatrics
- Orthopedics
- Developmental Biology
Background:
- Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by fragile bones.
- Motor milestones are crucial indicators of healthy development in children.
- Understanding developmental trajectories in OI is essential for timely interventions.
Purpose of the Study:
- To investigate the age and sequence of motor milestone achievement in different types of osteogenesis imperfecta.
- To compare motor development in OI patients with healthy population reference values.
- To assess the influence of intramedullary rodding on motor development in OI.
Main Methods:
- A questionnaire was sent to parents of 98 OI patients regarding motor milestone achievement.
- Data were collected from health care records and classified into static and dynamic milestones.
- Disease severity was classified using the Sillence criteria; intramedullary rodding data were also recorded.
Main Results:
- OI type I showed delays comparable to the 95th percentile of healthy children.
- OI type III exhibited significant delays in all motor milestones, with discrepancies between static and dynamic development.
- OI type IV showed developmental delays after achieving 'sitting without support'.
- Intramedullary rodding in lower extremities did not influence motor development in OI types I and IV.
Conclusions:
- Disease severity in osteogenesis imperfecta significantly affects the timing and order of motor milestone acquisition.
- Intramedullary rodding of the lower extremities showed no impact on motor development in OI types I and IV.
- The effect of intramedullary rodding on motor development in OI type III requires further investigation.
Unlabelled:
This study was performed to achieve more detailed information regarding the age and sequence in the development of motor milestones in the different types of osteogenesis imperfecta (OI). The parents of 98 patients with a diagnosis of OI were sent a questionnaire regarding the age at which patients achieved motor milestones. All patients were attending the outpatient clinic for children with OI at the Wilhelmina Children's Hospital. The motor milestones were classified into static motor milestones and dynamic motor milestones and all data were checked with health care records. The age of development of motor milestones was compared to reference values of the healthy population. The severity of the disease was classified according to Sillence based on clinical, genetic and radiological data. The age of intramedullary rodding of the first nail in the lower and upper extremity and the localisation was noted. A total of 76 parents responded to the 98 questionnaires (78%). In OI type I, a delay exists in achieving motor milestones, comparable to the 95th percentile of the normal population. In type III, the development of all motor milestones was significantly delayed compared to types I and IV with a discrepancy between static and dynamic milestones. In OI type IV, a retardation in motor development developed after the milestone 'sitting without support' was achieved. Motor development in types I and IV was not influenced by intramedullary rodding of the lower extremities, since rodding was rarely performed before the milestone 'unsupported standing' was achieved. In type III, the influence of intramedullary rodding on the age of achieving motor milestones remains questionable.
Conclusion:
The severity of osteogenesis imperfecta has a large influence on the age and sequence in the development of motor milestones. No influence of intramedullary rodding of the lower extremities on motor development was found in osteogenesis imperfecta types I and IV, whereas the influence in type III remains questionable.
