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Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications
Alberto Verrotti1, Marco Greco1, Gaia Varriale1
1Department of Pediatrics, University of L'Aquila, L'Aquila, Italy.
Insights
Monosomy 1p36 syndrome frequently causes Infantile Spasms (IS), often leading to pharmacoresistant epilepsy. Brain abnormalities increase the risk of difficult-to-treat seizures in these patients.
Area of Science:
- Genetics and Neurology
- Pediatric Epilepsy Syndromes
Background:
- Monosomy 1p36 syndrome is characterized by multiple congenital anomalies, developmental delay, and dysmorphisms.
- Epilepsy is a known complication, but detailed electroclinical data and long-term outcomes are limited.
Purpose of the Study:
- To analyze the electroclinical phenotype and long-term prognosis of epilepsy in patients with monosomy 1p36 syndrome.
- To identify specific seizure types and factors influencing epilepsy progression in this population.
Main Methods:
- Retrospective review of medical records for 22 patients with monosomy 1p36 syndrome and epilepsy.
- Analysis included age at diagnosis, seizure onset, seizure types, EEG, neuroimaging, treatment response, and clinical outcomes.
Main Results:
- Infantile Spasms (IS) were the most frequent initial seizure type (36.4%), often associated with hypsarrhythmic EEG.
- All patients with IS experienced persistent seizures, unlike those with other seizure types.
- Abnormal neuroimaging findings correlated with a higher likelihood of developing pharmacoresistant epilepsy.
Conclusions:
- Monosomy 1p36 syndrome is a significant cause of Infantile Spasms.
- Patients with IS and monosomy 1p36 syndrome are prone to pharmacoresistant epilepsy, particularly those with underlying brain abnormalities.
Objectivies:
Monosomy 1p36 syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, short stature, brain anomalies, congenital heart defects. Epilepsy can be another feature but there are few data about the types of seizures and long term prognosis. The aim of this work was to analyse the electroclinical phenotype and the long-term outcome in patients with monosomy 1p36 syndrome and epilepsy.
Materials And Methods:
Data of 22 patients with monosomy 1p36 syndrome and epilepsy were reconstructed by reviewing medical records. For each patient we analysed age at time of diagnosis, first signs of the syndrome, age at seizure onset, seizure type and its frequency, EEG and neuroimaging findings, the response to antiepileptic drugs treatment and clinical outcome up to the last follow-up assessment.
Results:
Infantile Spasm (IS) represents the most frequent type at epilepsy onset, which occurs in 36.4% of children, and a half of these were associated with hypsarrhythmic electroencephalogram. All patients with IS had persistence of seizures, unlike other patients with different seizures onset. Children with abnormal brain neuroimaging have a greater chance to develop pharmacoresistant epilepsy.
Conclusion:
This syndrome represents a significant cause of IS: these patients, who develop IS, can suffer from pharmacoresistent epilepsy, that is more frequent in children with brain abnormalities.
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