Assessment of patient and caregiver needs in fragile X-associated tremor/ataxia syndrome by utilizing Q-sort methodology

Abstract

Objectives: Psychosocial stressors faced by patients with fragile X-associated tremor/ataxia syndrome (FXTAS) and their caregivers have not been systematically explored. FXTAS is a neurodegenerative disease occurring in approximately 45% of elderly male carriers and 8–16% of female carriers of the fragile X mental retardation one premutation. This study investigated the subjective needs of patients with FXTAS and their family caregivers, by utilizing Q-sort methodology.

Method: Patients with FXTAS and their caregivers seen during January 2005 to June 2007 participated. The Q-sort was composed of 17 (eight formal and nine informal) items, designed to explore emotional, informational, and instrumental needs of patients with FXTAS and their caregivers. Item scores were generated from 1 = least important to 7 = most important. Analysis included descriptive statistics for all the demographic and outcome variables. Generalized estimating equations were used to identify which of the need domains were perceived as most important by the participants.

Results: A total of 24 patients (79% men, mean age 65.6 ± 6.4 years) with FXTAS and 18 caregivers (11% men, mean age 63.6 ± 6.2 years) completed the Q-sort. Both patients and caregivers rated informational needs as most important, followed by emotional and, finally, by instrumental needs. Participants lacked many important resources, in particular those addressing instrumental needs.

Conclusion: Providers should be educated and able to provide timely information and referrals to formal services, as well as to informal resources, including the National Fragile X Foundation online support network (www.fragilex.org).

Keywords:

• family caregivers
• FXTAS dementia
• psychosocial stressors
• fragile X

Acknowledgments

This work was supported by the National Institute of Health [HD036071, HD02274]; the Neurotherapeutic Research Institute (NTRI) [DE019583, DA024854]; National Institute on Aging [AG032119, AG032115]; National Center for Research Resources [UL1 RR024146]; and the Health and Human Services Administration of Developmental Disabilities [90DD05969]. We thank all the patients with FXTAS and their caregivers who participated in this study as well as those who have given financial support to our research efforts.