Abstracts

Rationale: Jeavons Syndrome is a generalized epilepsy syndrome characterized by eyelid myoclonia (EM) with or without absences (EMA) and rare tonic clonic seizures, eye closure-induced electroencephalographic (EEG) paroxysms, photosensitivity and generalized spikes. Onset is in childhood peaking at 6-8 years Diagnosis may be delayed as eyelid jerks are frequently misinterpreted as tics or mannerisms. Clinical, seizure and EEG features were analysed in detail to identify more robust biomarkers for earlier diagnosis. Methods: 10 patients matching the electroclinical features of Jeavons syndrome were found in our EEG database between 2010-2013. Clinical, seizure and EEG features were analysed in detail to identify more robust biomarkers for earlier diagnosis and favorable vs nonfavorable outcome. In addition risk factors, precipitants, and comorbidities including compulsive self induction of seizures were analysed. Results: Age of onset ranged from 2-15 yrs, mean 8 yrs, all female patients. Besides EM/EMA, GTCs were commonest other seizure type in 40%. 50% had delayed diagnosis of tics and behavioral disorder. Cognitive comorbidities were common in 9/10 patients with ADHD and DD seen in all. 70% had compulsive autoinduction (CAuI) of the EMA. A positive PPR was seen in all patients and eyelid closure preceded the generalized spike discharge by 200-400ms. Treatment of EMA and CauI with AEDs was not successful, Light intensity reduction with tinted contact lenses and sunglasses resulted in >90% EMA reduction and in 50% patients CBT, and SSRIs were used with significant response. Conclusions: Delayed diagnosis in Jeavons syndrome may not be uncommon due to the brief and subtle nature of the EM/EMAs. Misdiagnoses such as tics, OCD or syncope may carry a significant safety risk and put patients at risk for mild cognitive comorbidities due to untreated epileptogenesis. Multimodal treatment with AEDs, light intensity reduction, SSRIs and CBT appears promising. The CauI may reflect more extensive dysfunction in brain stem and cortical networks underlying JS and addictive behavior.