Objective
The study objective was to develop and validate the first epilepsy‐specific anxiety survey instrument (Epilepsy Anxiety Survey Instrument [EASI]) alongside a briefer screening instrument to detect anxiety disorders in routine clinical practice (brEASI).
Methods
The instruments were developed utilizing a mixed‐methods approach in four related studies. Pilot items were developed following qualitative interviews with people with epilepsy (PWE; Study 1) and consultation with multidisciplinary experts in anxiety and epilepsy (Study 2). PWE (n = 314) then completed pilot items alongside existing measures of anxiety and depression (Study 3). Factor analysis was conducted to refine the scale and select well‐performing items for a briefer diagnostic screener (brEASI). The brEASI was validated against a gold standard diagnostic interview in 106 PWE recruited from an outpatient epilepsy service (Study 4). Receiver operating characteristic analysis was conducted to determine the brEASI‘s diagnostic performance.
Results
Twenty‐six pilot items were generated based on the findings of Studies 1 and 2. Analyses in Study 3 resulted in an 18‐item EASI, and eight well‐performing items were selected for the brEASI. The area under the curve (AUC) of brEASI was excellent (AUC = 0.89, 95% confidence interval = 0.82‐0.94). At a cutoff of 7, it demonstrated a sensitivity of 76% and specificity of 84% for identifying Diagnostic and Statistical Manual of Mental Disorders, 5th edition anxiety disorders.
Significance
The EASI and brEASI represent the first valid and reliable epilepsy‐specific anxiety instruments. The EASI has been designed to comprehensively assess anxiety in PWE, whereas the brEASI may be used within busy neurology settings to provide rapid information to aid diagnoses of anxiety disorders. Given the significant prevalence and burden of anxiety in PWE, these tools are important potential solutions to improve the understanding and detection of anxiety in epilepsy.
Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder characterized by deafness and dystonia. However the phenotypic expression of dystonia has not been systematically defined. We report clinical, neurophysiological, and ophthalmological data on 6 subjects from 3 Australian kindreds, including 2 with novel mutations, together with a systematic review of the literature, in order to define the phenotypic expression of dystonia. Profound hearing impairment in affected males develops by infancy and precedes the development of dystonia, which varies in time of onset from the first to the sixth decades, with a peak in the second and third decades. Dystonia in MTS tends to be focal, segmental, or multifocal in distribution at onset, with a predilection for the upper body, variably involving the head, neck, and upper limbs. The majority of patients have progression or generalization of their dystonia regardless of age of onset. Within our 3 kindreds, we observed relative intrafamilial homogeneity but interfamilial variation. The median time to the development of moderate-severely disabling dystonia in these subjects was 11 years. Associated features included progressive cognitive decline, pyramidal signs, and in 1 patient, gait freezing and postural instability. Optic atrophy and cortical visual impairment were both observed. We report for the first time a female patient who developed multiple disabling neurological complications of MTS. Our findings more clearly define and expand the phenotype of both the dystonia and other neurological features of MTS and have implications for the diagnosis and management of this condition.
The DA has the potential to serve as a useful support tool for WWE who are considering motherhood. Future research is needed to test the DA in clinical settings with guidance from a health professional. The trial was registered with the Australian New Zealand Clinical Trials Registry (ID ACTRN12613001082796).
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.