Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross-Sectional Study and Systematic Literature Review.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini et al.
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In 30 seconds
This multicenter cross-sectional study examined 15 patients with Xia Gibbs Syndrome (XGS) due to heterozygous AHDC1 variants. The study found that seizures typically onset between 2 and 9 years, with EEG abnormalities present in all epileptic patients. Brain imaging revealed thinning of the corpus callosum as a common finding, alongside various neurodevelopmental disorders.
Key findings
- Seizures in XGS patients typically begin between 2 and 9 years of age.
- All epileptic patients exhibited EEG abnormalities in the temporal-occipital regions.
- Thinning of the corpus callosum was the most frequent brain alteration observed.
- Neurodevelopmental disorders such as ID, ASD, and ADHD were prevalent in the cohort.
Why it matters
Understanding the clinical and neuroradiological features of Xia Gibbs Syndrome is crucial for early diagnosis and management. Recognizing common EEG patterns and brain anomalies can aid clinicians in identifying affected individuals and addressing associated behavioral disorders.