“No one else sees the difference: ”family members' perceptions of changes in persons with preclinical Huntington disease

Abstract

Manifestations of Huntington disease (HD) prior to clinical diagnosis are not well understood. This study documents adult family members' perceptions of changes and their attempts to manage these changes in persons who had received a positive predictive molecular HD test prior to clinical diagnosis. Data were obtained from 19 adult family members in six focus groups in the US and Canada and one individual interview in the US. Changes reported by family members included problems in cognition and behavior, which are consistent with prior reports. In addition, family members observed changes in motor functioning, the ability to complete usual activities at work or at home, and interpersonal relationships with family and friends. Family members attempted to manage these changes by taking on new responsibilities and preparing for future caregiving. Lack of information about preclinical HD, difficulty in understanding changes that may represent early stages of HD, and efforts to maintain secrecy of the preclinical HD situation contribute to compromising the abilities of family members to respond to changes in the person with preclinical HD. Findings provide insights into alterations in cognition, behavior, and functioning observed by the family members prior to clinical diagnosis. Findings further support the need for a more comprehensive assessment and management of early HD symptoms as well as support for family members.

Caregiving by Teens for Family Members With Huntington Disease

“…The design of the larger study is reported in more detail elsewhere (Sparbel et al, 2008; Williams & Ayres, 2007; Williams et al, 2007; Williams et al, 2008). In brief, the larger study was a two phase mixed methods study in which the conduct of focus groups and development of a family concerns and strategies survey were completed in the first phase, and the survey was distributed and analyzed in the second phase.…”

The emotional experiences of family carers in Huntington disease

“…Other aspects of the study are reported elsewhere (Williams & Ayres 2007, Williams et al in press, Sparbel et al 2008). …”

“…A research team member served as focus group assistant. Topics included: concerns about their relative’s health, concerns about their own health, strategies used to manage these concerns and what further needs they had that were not currently being met (Williams et al 2007). A pilot study was used to test the data collection procedures.…”

Development of the Huntington Disease Work Function Scale

“…Researchers report changes in cognition and behavior for persons with prodromal HD, including executive function, 27 memory, 28 psychomotor processing, 11 and moodiness and depression, 29,30 prior to clinical diagnosis. 12 Data from persons with prodromal HD and their family members suggest that work function may be compromised.…”