Psychosis and epilepsy in ring chromosome 20 syndrome

Purpose The purpose of this paper is to discuss the challenges of assessment and management of psychotic symptoms in a background of intellectual disability (ID) and treatment-resistant epilepsy caused by a genetic syndrome. Design/methodology/approach Ring chromosome 20 [r(20)] syndrome is characterised by the triad of severe refractory epilepsy, mild to severe ID and behavioural problems. This paper describes the presentation of r(20) syndrome in a young woman with moderate ID and treatment-resistant epilepsy, who experiences psychotic symptoms at times of improved seizure control. Findings There are several diagnostic possibilities for such a presentation, including psychotic symptoms due to adverse effects of anti-epileptic medications and forced normalisation (alternating psychosis). Originality/value This paper advocates judicious use of antipsychotic medication to manage psychotic symptoms, as well as involvement of both patient and close family members throughout all stages of care. It is essential to strike a balance between control of epileptic seizures and psychiatric symptoms, providing an optimal benefit to the patients’ quality of life by meeting their complex needs through a multidisciplinary and multi-agency team input.

Alternative psychosis (forced normalisation) in epilepsy

Forced normalization is a paradoxical relationship between seizure activity and behavioural problems. A 20 year old male with recurrent refractory tonic clonic epilepsy experienced forced normalization, whilst on medication with multiple anti- epileptic drugs (AEDs).(Valproate Sodium, Carbamazepine, and Topiramate). A reduction in the seizure burden correlated with sudden behavioural changes manifesting with aggressive outbursts and violence.. The present case may help clarify the mechanism of forced normalization whilst providing some helpful hints regarding the diagnosis and treatment of symptoms observed in recurrent refractory seizures.