The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder associated with a premutation trinucleotide repeat expansion in the fragile X mental retardation 1 gene. Symptoms include gait ataxia, action tremor, and cognitive impairment. The objectives of the study were to clarify the nature of the dysexecutive syndrome observed in FXTAS and to assess the contribution of executive impairment to deficits in nonexecutive cognitive functions. Compared to controls, men with FXTAS demonstrated significant executive impairment, which was found to mediate group differences in most other cognitive abilities. Asymptomatic premutation carriers performed similarly to controls on all but two measures of executive functioning. These findings suggest that the impairment of nonexecutive cognitive skills in FXTAS is in large part secondary to executive dysfunction.

Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.

Fragile X-associated tremor/ataxia syndrome (FXTAS) develops in a subset of fragile X premutation carriers and involves gait ataxia, action tremor, Parkinsonism, peripheral neuropathy, autonomic disorders, and cognitive impairment. The study was designed to define the nature of cognitive deficits affecting male premutation carriers with and without FXTAS. A sample of 109 men underwent motor, cognitive, genetic, and neurologic testing, as well as brain magnetic resonance imaging. Subjects were classified into 3 groups: (a) asymptomatic premutation carriers, (b) premutation carriers with FXTAS, and (c) normal controls. Men with FXTAS performed worse than controls on mental status, intelligence, executive cognitive functioning (ECF), working memory, remote recall of information, declarative learning and memory, information processing speed, and temporal sequencing, as well as 1 measure of visuospatial functioning. Language and verbal comprehension were spared. Asymptomatic carriers performed worse than controls on ECF and declarative learning and memory. This comprehensive examination of cognitive impairment in male premutation carriers suggests that FXTAS involves substantial executive impairment and diffuse deficits in other cognitive functions. Longitudinal research currently underway will provide insight into the progression of the disorder.

The slow pace of interactive video telemedicine adoption: the perspective of telemedicine program administrators on physician participation.

We conducted semistructured interviews with telemedicine program administrators as part of a national survey of physicians and managers regarding attitudes toward, and knowledge of, telemedicine. Telemedicine administrators were interviewed regarding factors affecting physician adoption of interactive video (IAV) telemedicine. The seven networks with which these managers were affiliated represented "traditional" telemedicine programs, primarily providing specialty teleconsultation via IAV. These programs were located in different geographic regions, and included both consulting and referring sites. We include data only for well-established networks for which multiple administrators responded. Data were analyzed using standard qualitative research methods. We conclude that reimbursement issues are important determinants of the rate of adoption, but that by themselves they do not fully account for the slow diffusion of IAV telemedicine. Likewise, appeals to physicians as rational decision-makers are necessary but insufficient means of increasing the volume of telemedicine within a network. Telemedicine networks and administrators that have been effective in persuading physicians to practice telemedicine or to refer patients demonstrate an emphasis on aggressive recruitment of physicians who will be involved actively in one or the other role. Most efforts to encourage physicians to adopt telemedicine, however, have focused on the supply of specialists, rather than stimulating demand among primary care providers who have patients to refer. Habit was identified as an important, albeit overlooked, factor explaining physician adoption of telemedicine.

Specialist physicians' knowledge and beliefs about telemedicine: a comparison of users and nonusers of the technology.

Telemedicine as a technology has been available for nearly 50 years, but its diffusion has been slower than many had anticipated. Even efforts to reimburse providers for interactive video (IAV) telemedicine services have had a limited effect on rates of participation. The resulting low volume of services provided (and consequent paucity of research subjects) makes the phenomenon difficult to study. This paper, part of a larger study that also explores telemedicine utilization from the perspectives of referring primary care physicians and telemedicine system administrators, reports the results of a survey of specialist and subspecialist physicians who are users and nonusers of telemedicine. The survey examined self-assessed knowledge and beliefs about telemedicine among users and nonusers, examining also the demographic characteristics of both groups. Statistically significant differences were found in attitudes toward telemedicine between users and nonusers, but in many respects the views of the two groups were rather similar. Physicians who used telemedicine were aware of the limitations of the technology, but also recognized its potential as a means of providing consultation. Demographic differences did not explain the differences in the knowledge and beliefs of user and nonuser consultant physicians, although some of the differences may be explained by other aspects of the professional environment.