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Growth patterns in children with mucopolysaccharidosis I and II
Agnieszka Różdżyńska-Świątkowska1, Agnieszka Jurecka, Joachim Cieślik
1Anthropology Laboratory, the Children's Memorial Health Institute, Warsaw, Poland, agnieszka.rozdzynska@gmail.com.
Insights
Children with Mucopolysaccharidosis (MPS) types I and II show distinct growth patterns. Early growth is similar, but height differences emerge, reflecting disease severity and aiding therapy evaluation.
Area of Science:
- Pediatric endocrinology
- Genetics and developmental biology
- Metabolic disorders
Background:
- Mucopolysaccharidoses (MPS) are rare genetic disorders disrupting growth and development.
- MPS types I and II significantly impact children's physical development.
Purpose of the Study:
- To investigate and compare the general growth patterns of children diagnosed with MPS type I (Hurler syndrome) and MPS type II.
- To analyze anthropometric data and identify distinct growth trajectories in relation to disease severity.
Main Methods:
- Retrospective analysis of anthropometric data from 76 patients with MPS I and II.
- Plotting growth patterns onto Polish reference charts for comparison.
- Longitudinal analysis to track age-related changes in growth parameters.
Main Results:
- Infants with MPS I and II exhibited greater than average body length at birth.
- Growth patterns were similar across all MPS groups until 30 months of age.
- Significant divergence in growth patterns occurred post-30 months, with varying timelines for reaching below the 3rd percentile height based on MPS type and severity.
Conclusions:
- Growth patterns in MPS I and II are distinct and correlate with clinical disease severity.
- These growth differences can potentially aid in assessing the effectiveness of current MPS therapies.
Background:
Mucopolysaccharidosis (MPS) diseases lead to a profound disruption in normal mechanisms of growth and development. This study was undertaken to determine the general growth of children with MPS I and II.
Methods:
The anthropometric data of patients with MPS I and II (n=76) were retrospectively analyzed. The growth patterns of these patients were analyzed and then plotted onto Polish reference charts. Longitudinal analyses were performed to estimate age-related changes.
Results:
At the time of birth, the body length was greater than reference charts for all MPS groups (Hurler syndrome, P=0.006; attenuated MPS II, P=0.011; severe MPS II, P<0.001). The mean z-score values for every MPS group showed that until the 30th month of life, the growth patterns for all patients were similar. Afterwards, these growth patterns start to differ for individual groups. The body height below the 3rd percentile was achieved around the 30th month for boys with Hurler syndrome, between the 4th and 5th year for patients with severe MPS II and between the 7th and 8th year for patients with attenuated MPS II.
Conclusions:
The growth pattern differs between patients with MPS I and II. It reflects the clinical severity of MPS and may assist in the evaluation of clinical efficacy of available therapies.
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