ABSTRACT
OBJECTIVE: Idiopathic generalized epilepsy (IGE) has a strong genetic component, and patients with IGE show deficits in a range of frontal lobe functions. Previous studies provide hints that unaffected siblings of people with IGE may share some of these cognitive deficits, suggesting that these deficits may be genetically determined endophenotypes. Establishment of a neurocognitive endophenotype of IGE would contribute to genetic studies and increase our understanding of the pathophysiology of IGE. To identify potential neurocognitive endophenotypes of IGE, this study aimed to measure neuropsychological performance in patients with IGE, their unaffected relatives, and healthy controls. METHODS: Thirty-six patients with IGE, 38 first-degree relatives, and 40 healthy controls were examined using a battery of neuropsychological tests sensitive to frontal lobe dysfunction (executive function, nonverbal reasoning, verbal generativity, response inhibition, attention, and working memory). Subject groups were compared using robust Bonferroni-corrected statistics. RESULTS: Patients with IGE showed deficits in nonverbal reasoning, verbal generativity, attention, and working memory. Relatives exhibited a parallel profile of cognitive abilities, with significant deficits in these tasks. Patients tended to show greater impairment than relatives in these tasks. SIGNIFICANCE: This study shows that measures of nonverbal reasoning, verbal generativity, sustained attention, and working memory are endophenotypes of IGE and offer the potential for aiding molecular genetic studies and elucidating the pathophysiology of IGE. Patients tended to demonstrate greater impairment in these tasks, possibly because of a greater genetic contribution and/or disease-related factors. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.
Subject(s)
Cognition Disorders/genetics , Epilepsy, Generalized/genetics , Adult , Attention , Brain/physiopathology , Case-Control Studies , Electroencephalography , Endophenotypes , Epilepsy, Generalized/physiopathology , Executive Function , Family , Female , Humans , Male , Memory, Short-Term , Neuropsychological TestsABSTRACT
INTRODUCTION: We assessed the clinical impact of replacing standard neurophysiologic testing with a hand-held device (Mediracer) for diagnosis of carpal tunnel syndrome (CTS). METHODS: One hundred patients (200 hands) with suspected CTS were studied by blinded assessors [Hand-therapist (HT)1 and Consultant Neurophysiologist] using the Mediracer, followed by standard neurophysiologic testing. To simulate testing by personnel without neurological training, Mediracer recordings were analyzed separately by an assessor who had not seen the patients (HT2). RESULTS: Correlation of the CTS grades was 0.94 for the results obtained by HT1, and 0.87 for HT2. The sensitivity and specificity of the Mediracer was 0.85 and 0.9, respectively, by HT1, and 0.84 and 0.89 for HT2. Nine patients had conditions other than CTS, and 35 patients were judged to require further investigation. CONCLUSIONS: The Mediracer should only be used in patients with typical CTS symptoms and signs and no muscle wasting who have had careful neurological assessment.
