PhD Project - ERUK-DTC: Neurodevelopment in childhood-onset epilepsies

Vacancy Reference Number
Closing Date
7 Jan 2022
3-year ERUK Doctoral Training Centre studentship
University of Edinburgh

Childhood-onset epilepsies, forty percent of which are due to monogenic causes (1), are associated with negative sequela across the lifespan, including poor academic achievement, difficulties with social and behavioural functioning, and high rates of unemployment.  Early identification of cognitive and or behavioural problems in childhood-onset epilepsies, provides opportunities for early intervention for those affected that may have long-lasting positive effects on their later life.  However, cognitive and or behavioural problems in childhood-onset epilepsies are often undiagnosed and or poorly managed (2). 

Not all cognitive and or behavioural problems may be present at the time of epilepsy diagnosis so periodically screening for such problems is paramount (3).  Further, some children will have improvement in their cognitive and or behavioural problems after epilepsy diagnosis and adequate seizure control, whilst others will have persistent problems despite good seizure control and others will have persistent problems along with seizures that are refractory to treatments.  Thus, neurodevelopmental trajectories in childhood-onset epilepsies may vary.  

We have established a unique Scottish cohort (N=59) of well-phenotyped early-onset childhood epilepsies (onset before age five years of age) diagnosed between May 2013 and June 2015.  There are early initial psychometric neurodevelopmental data within 3 months of diagnosis, concomitant diagnostic MRI and EEG data, and genetic information available for the cohort.  Fifty percent of children in that cohort had learning and or behavioural comorbidities on initial testing.  Results were fed back to their respective clinicians, but it is uncertain if any interventions resulted. It is also unknown if any have improved or if any have developed cognitive and or behavioural problems since the initial study.   We also have access to another unique Norwegian cohort of children with epilepsy (N=606), many with monogenic childhood-onset epilepsies, in which we have sequential pre-epilepsy and post-epilepsy diagnosis developmental data at fixed cohort ages, in addition to similar sociodemographic and clinical data as the Scottish cohort.


About the Project

We hypothesize that more than 70% of children with early-onset epilepsy will have cognitive/behavioural problems at 6-8 years follow-up after epilepsy diagnosis, and a combination of clinical, sociodemographic, EEG, imaging and genetic factors would enhance the prediction of neuropsychological outcomes.

The specific aims of this studentship are to:

  1. Determine neuropyschological outcomes at follow up
  2. Describe neurodevelopmental trajectories
  3. Identify clinical, sociodemographic, MRI, EEG, and genetic risk factors for poor neuropsychological outcomes.   

Thus, this project will provide you with well-rounded multi-disciplinary training in clinical epidemiology, neurodevelopmental psychology, and statistics.