Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Phelan-McDermid syndrome (PMS) is a genetic disorder caused by a deletion on chromosome 22q13.3.
• It is characterized by developmental delays, intellectual disability, and neurological and psychiatric issues.
• Epilepsy is a common comorbidity in PMS, presenting with varied seizure types.

Purpose of the Study:

• To investigate the prevalence and semiology of epileptic seizures in PMS.
• To focus on patients with SHANK3 gene pathogenic variants or 22q13 deletions involving SHANK3.
• To inform the development of European consensus guidelines for PMS epilepsy diagnosis and therapy.

Main Methods:

• Review of clinical data and diagnostic findings (EEG, MRI) in PMS patients.
• Analysis of seizure types, frequency, and response to treatment.
• Correlation of genetic findings (SHANK3 involvement) with epilepsy characteristics.

Main Results:

• Epilepsy is a significant feature of PMS, with diverse seizure presentations.
• Specific seizure semiologies and patterns are observed in relation to SHANK3 gene status.
• Diagnostic tools like EEG and MRI are crucial for characterizing epilepsy in PMS.

Conclusions:

• Understanding seizure prevalence and semiology in PMS is vital for effective management.
• Tailored diagnostic and therapeutic strategies are needed for PMS-associated epilepsy.
• This research contributes to evidence-based recommendations for European consensus guidelines.