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Updated: Aug 8, 2026
11:05
Behavioral Characterization of an Angelman Syndrome Mouse Model
Published on: October 20, 2023
Exaggerated T-wave alternans in children with Angelman syndrome
Eleonora Tamilia1,2, Navaneethakrishna Makaram1, Georgios Ntolkeras1,2
1Department of Pediatrics, Division of Newborn Medicine, Fetal-Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA.
Annals of the Child Neurology Society
|August 7, 2026
Summary
T-wave alternans (TWA) is elevated in children with Angelman syndrome (AS), indicating a potential cardiac abnormality. This ECG marker can help distinguish AS from typically developing children.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Angelman syndrome (AS) is a rare neurodevelopmental disorder.
- Ventricular fibrillation susceptibility can be assessed using T-wave alternans (TWA).
Purpose of the Study:
- To investigate T-wave alternans (TWA) in children with Angelman syndrome (AS).
- To determine if TWA can serve as a biomarker for AS.
Main Methods:
- Surface electrocardiogram (ECG) was used to measure TWA in AS patients and typically developing children (TDC).
- Statistical analyses included Wilcoxon rank sum test and logistic regression.
Main Results:
- Children with AS exhibited significantly higher TWA compared to TDC (44 vs. 33 uV, p=0.009).
- Heart rate and heart rate variability did not differ between groups.
- TWA accurately discriminated between AS and TDC with 81% accuracy.
Conclusions:
- Elevated TWA in children with AS suggests an acquired cardiac abnormality.
- TWA shows potential as a non-invasive biomarker for Angelman syndrome.
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