Short Stature and Distinct Growth Characteristics in Angelman Syndrome
Authors' conclusion
AS patients demonstrate specific growth pattern with deceleration during childhood and adolescence, resulting in significantly decreased final height compared to normal population, and even lower among deletion subgroup, which could be attributed to reduced IGF1 levels. We propose adding short stature to the clinical criteria and developing adjusted growth curves for AS population.
Study context
- Population
- Individuals with Angelman syndrome followed at the angelman syndrome (AS) National Clinic; 46 males280 data points
- Participants
- 88 individuals
- Exposure
- Deletion vs non-deletion subtype; AS patients vs general population
- Deletionn = 54
- Outcome
- Final height SDS
- Follow-up
- Final height
Methodological detailssingle national clinic, medical file review
- Single national clinic
- Medical file review
Main finding
As reported in the abstract
Deletion
−1.67
± 1.3
Non-deletion
−0.65
± 0.96
P = 0.03
- Final height SDS of whole cohort, significantly lower vs general population (p < 0.001)
- −1.23 ± 1.26
Observational data: associations, not effects.
Further findings
- IGF-1 SDS vs general population — Deletion
- −0.70 ± 1.44
- IGF-1 SDS vs general population — IGF-1 SDS of whole cohort, significantly decreased vs general population (p = 0.04)
- −0.55 ± 1.61
- IGF-1 SDS vs general population — Deletion: lower IGF-1 SDS (p = 0.01)
- −0.70 ± 1.44
Height SDS: final height vs preschool period
- Final height SDS vs preschool height SDS, significantly lower (p = 0.007)
- −1.32 vs. −0.47
Final height SDS of patients vs parents
- ∆final-height SDS, patients significantly lower than parents (p = 0.002)
- 0.94 ± 0.99
Original publication
Short Stature and Distinct Growth Characteristics in Angelman Syndrome. Horm Res Paediatr. Published 16 October 2023. doi:10.
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