title: Neuropsychological profiles of patients with juvenile myoclonic epilepsy and their siblings: An extended study.
abstract: OBJECTIVE
  To examine executive function, intelligence, visuospatial skills, language, memory, attention, reaction time, anxiety, depression, and emotional and behavioral traits most frequently associated with executive dysfunction in patients with juvenile myoclonic epilepsy (JME) compared with a sibling and a normal control group under video-electroencephalography (video-EEG) conditions.
  
  
  METHODS
  Twenty-two sibling pairs, one with JME, were compared with 44 controls matched for age, gender, and educational level. All participants were administered a comprehensive set of neuropsychological and questionnaire measures during and without video-EEG recording.
  
  
  RESULTS
  The JME group differed significantly from controls in measures of phonemic and semantic verbal fluency. They scored significantly higher on the dysexecutive self-rating questionnaire, being more likely to report traits associated with executive dysfunction than both siblings and controls. Patients with JME reported significantly low mood than both controls and their siblings. Unaffected siblings differed significantly from controls on psychomotor speed, phonemic verbal fluency and were considered to exhibit traits associated with executive dysfunction by others. Qualitative inspection of data suggested a convincing trend for patients with JME and their siblings to perform worse than controls on most measures.
  
  
  CONCLUSIONS
  This study supports the existence of a distinct neuropsychological profile among patients with JME and their siblings, which is likely to be genetically determined. The similarity of neuropsychological profiles between JME patients and their siblings is independent of antiepileptic drug effects or subclinical EEG activity. The significant differences between the sibling and controls suggests that there is a neurocognitive endophenotype for JME.
authors.affiliation: Department of Clinical Psychology, North Manchester General Hospital, Crumpsall, Manchester, United Kingdom.
authors.forename: Nasur
authors.initials: N
authors.lastname: Iqbal
authors.affiliation: Department of Clinical Neuropsychology, Salford Royal Hospital, Salford, Manchester, United Kingdom.
authors.forename: Helen
authors.initials: H
authors.lastname: Caswell
authors.affiliation: Division of Clinical Psychology, University of Liverpool, Brownlow Hill, Liverpool, United Kingdom.
authors.forename: Robin
authors.initials: R
authors.lastname: Muir
authors.affiliation: Edinburgh and South East Scotland Epilepsy Service, Department of Clinical Neurosciences, Western General Hospital, Edinburgh, United Kingdom.
authors.forename: Amy
authors.initials: A
authors.lastname: Cadden
authors.affiliation: Department of Neurophysiology, Western General Hospital, Edinburgh, United Kingdom.
authors.forename: Stuart
authors.initials: S
authors.lastname: Ferguson
authors.affiliation: Department of Neurophysiology, Western General Hospital, Edinburgh, United Kingdom.
authors.forename: Holly
authors.initials: H
authors.lastname: Mackenzie
authors.affiliation: Department of Neurophysiology, Western General Hospital, Edinburgh, United Kingdom.
authors.forename: Philip
authors.initials: P
authors.lastname: Watson
authors.affiliation: Edinburgh and South East Scotland Epilepsy Service, Department of Clinical Neurosciences, Western General Hospital, Edinburgh, United Kingdom.
authors.forename: Susan
authors.initials: S
authors.lastname: Duncan
mesh_terms: D000328:Adult; D001007:Anxiety; D001288:Attention; D016022:Case-Control Studies; D003072:Cognition Disorders / Q000523:psychology*; D003863:Depression; D004569:Electroencephalography; D058068:Endophenotypes; D056344:Executive Function; D005260:Female; D006801:Humans; D007360:Intelligence; D007802:Language; D008297:Male; D008568:Memory; D020190:Myoclonic Epilepsy, Juvenile / Q000523:psychology*; D009483:Neuropsychological Tests; D011930:Reaction Time; D035781:Siblings / Q000523:psychology*; D055815:Young Adult
keywords: Cognition; Endophenotype; Juvenile myoclonic epilepsy