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


  • Please cite this article as follows: Williams JK, Hamilton R, Nehl C, McGonigal-Kenney M, Schutte DL, Sparbel K, Birrer E, Tripp-Reimer T, Friedrich R, Penziner E, Jarmon L, Paulsen J. 2007. “No One Else Sees the Difference”: Family Members' Perceptions of Changes in Persons With Preclinical Huntington Disease. Am J Med Genet Part B 144B:636–641.


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. © 2007 Wiley-Liss, Inc.