Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery.

Background: Carriers of the FMR1 premutation allele are at a significantly increased risk for a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). This disorder is distinct from fragile X syndrome (FXS) in its molecular aetiology and clinical presentation. The primary features of FXTAS are late-onset intention tremor and gait ataxia.

Behavioral, social, and affective factors associated with self-efficacy for self-management among people with epilepsy.

The purpose of the study described in this article was to evaluate the extent to which selected behavioral, social, and affective factors contribute to self-reported epilepsy self-efficacy. Participants completed three assessments 3 months apart, with only those completing both the first and second assessments included in this analysis. Self-efficacy scores at the second assessment were regressed on the behavioral, social, and affective characteristics ascertained at the first assessment.

The complexity of treatments for persons with epilepsy.

The purpose of this study was to describe the types of antiepileptic medication regimens and the types of actions required to take medications for a group of patients with epilepsy. The Epilepsy Medication and Treatment Complexity Index (EMTCI) was used to gather information about medications and treatments. The sample of 314 reported on 585 epilepsy medications.

Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance.

A CGG repeat sequence located in the 5' untranslated region of the FMR1 gene is polymorphic with respect to size and stability of the repeat during parent-offspring transmission. When expanded to over 200 repeats, the gene is hypermethylated and silenced, leading to fragile X syndrome (FXS). Recently, alleles with large unmethylated repeat tracts (premutations) have been associated with ovarian failure and a late-onset tremor/ataxia syndrome, symptoms unrelated to FXS.

Project EASE: a study to test a psychosocial model of epilepsy medication managment.

The purpose of this study was to test a psychosocial model of medication self-management among people with epilepsy. This model was based primarily on social cognitive theory and included personal (self-efficacy, outcome expectations, goals, stigma, and depressive symptoms), social (social support), and provider (patient satisfaction and desire for control) variables. Participants for the study were enrolled at research sites in Atlanta, Georgia, and Boston, Massachusetts and completed computer-based assessments that included measures of the study variables listed above.