HD Lighthouse Contributing Editor's Comment: Although lip service is frequently paid to the need to manage Huntington's Disease in the context of the family, in practice the disease is usually treated as an individual medical problem. This is the very first study to seek input from family members about the impact of changes in gene positive individuals whose symptoms haven't crossed the threshold clinicians require for diagnosis.

None of the findings will surprise HD families. The family members in the study reported problems with memory, depression, behavior, daily activities, work, and social relationships and activities.

The researchers are not surprised either because families are reporting the same symptoms that have been found in Predict-HD which showed that cognitive and psychiatric problems increase as gene positive individuals get closer to clinical onset. See HDL: Preparing for Preventive Clinical Trials: The Predict-HD study.

These researchers 'get it' and here's the key statement, "In addition to providing insight into preclinical HD, these data provide evidence that these changes, some of which may be regarded as very subtle on a clinical examination, may be linked with real-life consequences for the person with preclinical HD and his/her family."

Based on posts and discussions over the years in the HD online community, we know that there are indeed consequences to ignoring these early symptoms. Gene positive people with depression may go untreated, jobs may be lost and along with them needed medical and disability benefits. Irritability and anger, not understood as part of the disease and not treated, may result in the alienation of family and friends who would otherwise be an important support network for the person with Huntington's Disease. Personal and family assets may be lost through impulsive behavior which is out of character for the individual.

No one wants to receive a diagnosis of Huntington's Disease, but timely recognition of symptoms can result in long term improvement of quality of life for the patient and the family.

Kudos to Dr. Williams and colleagues for bringing family members into the research process. Dr. Williams is also seeking teens from HD families to participate in a survey about their own concerns. See HDL: Teens Needed for Survey

-- Marsha L. Miller, Ph.D.
Posted to the HDL: 24 Jan 2007

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

Janet K. Williams, Rebekah Hamilton, Carissa Nehl, Meghan McGonigal-Kenney, Debra Schutte, Kathleen Sparbel, Emily Birrer, Toni Tripp-Reimer, Rose Friedrich, Elizabeth Penziner, Lori Jarman, and Jane Paulsen

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 # # #

Source: American journal of medical genetics. Part B, Neuropsychiatric genetics 2007 Jan 11

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