Psychosomatics 48:400-404, September-October 2007
doi: 10.1176/appi.psy.48.5.400
© 2007 Academy of Psychosomatic Medicine
The Impact of Huntington’s Disease on Family Life
Marina Vamos, MBChB, FRANZCP,
John Hambridge, B.A.,
Matt Edwards, MBBS, M.D., and
John Conaghan, B.A., M.S.W.
Received January 22, 2006; revised March 6, 2006; accepted May 18, 2006. From the Centre for Mental Health Studies, Faculty of Health, University of Newcastle, James Fletcher Hospital, Newcastle, Australia. Send correspondence to Marina Vamos, Officers’ Quarters Complex, James Fletcher Hospital, Watt St., Newcastle 2300, Australia. e-mail: mvamos{at}mail.newcastle.edu.au
© 2007 The Academy of Psychosomatic Medicine
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ABSTRACT
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By assessing a group of adults who grew up in a household with a parent affected by Huntington’s disease (HD), the authors explored the hypothesis that HD causes major disruption in family life. High rates of family dysfunction were reported. Adverse parenting in the form of parental and maternal overcontrol and paternal abuse were endorsed for both the HD-positive and HD-negative parent. These results illustrate the impact on all members of a family coping with HD. They are particularly stark, given the overall psychological health of the sample, and suggest that there is an urgent need to use a family perspective when assessing the need for psychosocial intervention in HD.
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INTRODUCTION
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In the first issue of the journal Advances in Neurology, a physician named George Huntington described in minute and compassionate detail the triad of features that constitutes the disease now named after him: movement disorder, dementia, and tendency to a variety of psychiatric disorders.1 Through careful observation of his own grandfather and father, he noted that it affected members in each generation without "skipping"—the cardinal feature of what is now known to be autosomal dominant transmission. The precise genetic abnormality in HD has now been mapped to the abnormal expansion of the trinucleotide CAG2 in a gene on the short arm of Chromosome 4, and predictive testing has become part of clinical practice.3
It is not only in the genetic sense that HD is a family disease. With the average age at onset of symptoms between 35 and 45 years,3 HD begins during the time period when the family life-cycle is at its most complex, with childbearing, child-rearing, and career development all significant. Furthermore, there may be many members in any one family, and, almost certainly, many members in the extended family who are affected. Distress and grief may be directed at the ongoing genetic load, the losses experienced by affected relatives, and the need to mourn those who have died and suffer the anticipatory mourning for those who are dying.
The onset of symptoms for those themselves affected will then add yet another layer of complex and serious problems to the life experience of the symptomatic ones and their family around them.4 Family grief in the more common setting of terminal illness and death is known to exaggerate the existing structure and coping style of the family. Thus, cohesive families become more cohesive, and disorganized ones become even more chaotic.5
However, the difficulties experienced by family members of those affected by HD has received surprisingly little attention. Folstein et al.6 noted that 48% of offspring of a parent with HD had psychiatric disturbance of some kind, with affective, personality, or behavioral change being the most common. Many individuals had more than one form of psychopathology. They found that disorder was more frequent in families where the parent had earlier onset of symptoms, which suggests the important role of a disturbed environment. They also noted a high level of disorganization in the families: 12 out of 34 families had needed to transfer children to foster care or had been physically abusive or neglectful. In a study of Chinese families, Wong et al.7 found that one-third of 28 relatives asymptomatic for HD were found to have symptoms of anxiety and depression; they did not note the age of their sample.
This study was designed to assess adults who have been raised in families affected by HD, but who are still too young to be likely to experience symptoms themselves, and to explore the psychological quality of their family experiences.
The goal was to assess, by use of standardized measures, the family impact of HD in terms of the frequency of adverse parenting experiences and the quality of family functioning in families with one parent symptomatic for HD.
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METHOD
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Subjects were sought in two different ways. The majority came from a search of the case files at the Hunter Genetics Unit to identify all persons between age 18 and 45 who had been identified as having a parent with HD. The upper limit was chosen to minimize the likelihood that subjects would themselves be symptomatic. None of the subjects were on clinic record as being symptomatic; however, no specific measures were taken to ensure that their symptoms had not yet begun. Also, advertisements were placed in local newspapers. An explanatory letter was mailed to these potential recruits, and this was followed by a package containing a consent form, and the questionnaires. A second package was mailed 2 weeks later unless there was an indication from the subject that he or she did not wish to participate. No control group was sampled in this pilot study.
Replies were coded and analyzed with SSPS software, using univariate ANOVA to investigate possible predictors of psychological well-being, parental dysfunction, and family cohesion, in terms of length of time living with a parent affected by HD; age and gender of respondent and gender of HD-affected parent. The study was reviewed and approved by the Hunter Research Ethics Committee.
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Instruments
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Family Relationships Index (FRI)8 This is a 12-item scale derived from the longer Family Environment Scale devised by Moos and Moos.9 The scoring yields subscale measures of cohesiveness with items such as "There is a feeling of togetherness in our family;" conflict—for example, "We fight a lot in our family;" and expressiveness: "We say anything we want to around the home." The total score is indicative of overall adaptive functioning, with higher scores meaning better functioning. A score of <4 on the Cohesiveness Subscale or a total score <9 is considered to identify a family at risk. The typologies were found to be clinically valid, consistent over time, and predictive of psychosocial morbidity, first on a cohort of 102 families, then on a second cohort of 115 families.8
Measure of Parenting Style (MOPS)10 This is a 30-item scale created from a refinement of the Parental Bonding Instrument (PBI), designed to capture data from families expected to have high rates of adverse experience. It has three subscales, assessing parental indifference, overcontrol, and abuse. Higher scores reflect higher levels of adverse parenting. Endorsement of items implies dysfunctional parenting experiences; scores are not normally distributed. The scale was validated by use of a principal-components analysis.10
K10 This is a well-validated screening tool for nonspecific psychological well-being,11 with higher scores reflecting higher levels of symptoms.
Family Life This is a series of 10 items derived from clinical experience, seeking information on the impact of HD on family life. These included "HD has been the biggest issue in the family’s life;" "HD has brought us closer;" and "I feel good about my family." It was designed to allow positive as well as negative evaluations to be recorded.
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RESULTS
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Of 81 questionnaires sent out, 50% (40 questionnaires) were returned. There was no difference in age or gender between responders and non-responders. The mean age of the sample was 31.08 years (standard deviation [SD]: 6.62 years), with a range of 19 to 40 years; 50% were men. Only one subject lived alone; 57.5% lived with a partner, and the others lived with friends or family; 37.5% worked full-time, 30% had part-time work, and 15% received a pension. In this group, 57.5% had an affected mother; in 57.5%, the affected parent had the same gender as the respondent. Of 25 who provided their own age at the time their parent had DNA testing, the mean was 22.4 (8.7) years; the youngest age recorded was 6 years. It was unclear whether those who did not complete this item did not know or did not wish to answer, or whether their parent had not undergone testing. Of the 33 who recorded their age when their parent became symptomatic, the mean age was 17.1 (9.85) years, and, of 35 who recorded how many years they had lived with the affected parent, the mean number of years was 15 (9.5). Mean K10 score was 16.4, which fits into the "low severity of symptoms" range.12 K10 scores were not correlated with the gender of the affected parent or years lived with the affected parent.
FRI scores were the following: Cohesiveness, 2.5 (SD: 1.38); Expressiveness, 1.77 (SD: 1.35); Conflict, 2.10 (SD: 1.34); and Total FRI, 6.17 (SD: 2.89). These scores are all in the dysfunctional range. In the original study,5 scores of this magnitude would have been flagged as requiring family-focused intervention. FRI score did not relate to gender of affected parent or of subject, nor of years lived with the affected parent.
Results of the MOPS are more complex. They are presented in the context of results from a normal population of German students13 and from a group of depression outpatients14 chosen to represent a population with psychiatric rather than genetic/medical dysfunction. These results are shown in Table 1.
It can be seen that total dysfunction of mothers and fathers was significantly higher than found in the normal student population. For fathers, this was mostly accounted for by the Overcontrol dimension, and to a lesser degree by Abuse. For the mothers, the major contributor was Overcontrol. When compared with the psychiatric sample, although overall paternal dysfunction was significantly lower, maternal dysfunction was not. Perhaps the most unexpected finding was that HD status was not predictive of any MOPS measure. In other words, whether HD-affected because of genetic make-up or by marriage, these parents were equally dysfunctional in their parental roles, as rated by their adult children.
Answers to the Family Life items (Table 2) show that, although HD is seen as the biggest issue in the family by 27.5%, as being difficult by 80%, and as splitting the family apart by 40%, other items showed the presence of considerable resilience and a positive attitude. For example, 27.5% endorsed "HD brought us closer together;" and 65% said "I feel good about my family."
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DISCUSSION
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This was a pilot study, and it suffered from a low return rate and a disappointingly small sample. Furthermore, although the group who responded were not distinguishable from the non-responders in terms of age or gender, there was no information to allow them to be defined in terms of any other variable. The fact that the majority of the responders were gainfully employed and that virtually all lived within a family setting or with friends strongly suggests that the sample comprised better-adjusted individuals than those in the HD population as a whole. Dysfunction of other kinds might also be underrepresented. Other studies have shown much higher rates of disorder, which, if mirrored in this sample, would be expected to have translated into higher K10 scores than we obtained. This may suggest that more disturbed individuals were unable or unwilling to participate in the study. The question of how we might have increased return rate is not easy. Participants were not paid for their involvement, which might be a possible future strategy. Recruitment of the caregiver group might also have been a useful way to encourage participation.
However, the severe impact on family functioning was clearly demonstrated. Even in the presence of reasonable individual psychosocial scoring, subjects reported marked family pathology in terms of low cohesion and expressiveness and high levels of conflict. Unexpectedly, there was no effect by age of subject at diagnosis or appearance of symptoms in the parent. This is in conflict with earlier findings6 and is further evidence for psychopathology being a family-systems rather than a solely personal issue. The idea that family-systems assessment is essential when genetic disorder is present has been proposed previously.15
Looking at parental behaviors, the sample demonstrated high levels of adverse experience, significantly more than a normative sample of university students, for both parents, regardless of whether they or their spouse were HD-positive. This highlights the hypothesized family nature of HD, extending beyond the genetic. It is almost as if the strain of living with the disorder "infects" the healthy parent with the negative behavior of his or her partner. This effect has been discussed elsewhere.16,17 The result may be explained by the enormous strain the antisocial behavior, personality change, and sometimes outright dangerousness of HD puts on the caregiver spouse18 and by the fact that genetically unaffected spouses must be considered to be almost equally affected by the illness in terms of their concerns for their future and the future of subsequent generations, and their fears of impending invalidism and death.16 Furthermore, the imperative of performing a caretaking role for a spouse may negatively affect the ability to function adequately as a parent to one’s children. It is unclear why there were differences in the patterns of abnormality shown by the mothers and the fathers; further work is needed. No accessible data exist on such gender differences in HD.
The grief and anticipatory loss that must be mastered by these adult children is particularly complex. Neimeyer19 points out that traditional models of grief center on a primary event, the loss, and a process that leads to an endpoint of resolution. There is no established social structure for mourning that continues over generations and relates not only to the present but also to the ghosts of the past and the unknown fears for the future. Such an ambiguous process has been termed "disenfranchised grief,"20 a concept defined as the grief experienced when the loss is neither publicly recognized, nor accorded social support, and where rituals such as funerals are missing. The loss experienced as a result of a positive genetic test can be seen to be both ambiguous, in that the affected person is neither sick nor well,21 and disenfranchised, in that it cannot be publicly mourned.20 The ongoing, never-ending distress of chronic disease is heightened by the likelihood that many relatives in one family are likely to be affected. To further complicate the matter, there may be inter-sibling envy and regret, relating to who inherits the gene and who does not.
Rolland and Williams4 point out that the concept of illness needs to be extended to cover the time of "asymptomatic-but-aware," with testing creating further crises. In their model for genetic illness, they suggest that essential factors include the likelihood of the condition becoming manifest, on the basis of genetic structure, the overall clinical severity of the condition, the time of the clinical onset in the life-cycle, and its ability to be modified by treatment. On all these measures, HD is maximal in its potential to create fear—for oneself, for one’s family, and for the generations to come. Within a wider family perspective, it can be assumed that the many individuals will occupy different phases in this extended illness life-cycle, with the possibility that one family member may affect one or many others with his or her own emotional issues. The fact that this creates major disequilibrium within the family system is thus not a surprising finding, although it is an important one.
At least in this sample, there was no obvious need for psychiatric intervention demonstrated at an individual level. However, the very high rate of family dysfunction highlights a role for greater attention to be paid to the needs of the family. Currently, although individuals asking for predictive genetic testing are given counseling,22 this offer is not automatically extended to other members of the family. These results give support to the suggestion that family intervention may be indicated not only in HD, but in the whole range of genetically determined or genetically influenced disorders.17,23
We are planning further work using qualitative methodology to help understand in more detail the ways in which families address the various issues of managing a serious genetic disorder such as HD, including how the knowledge of the illness is addressed with offspring and how families manage the challenges of grief and anticipatory loss.
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REFERENCES
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- Huntington G: On chorea. Adv Neurol 1872; 1:33–35
- Kieburtz K, MacDonald M, Shih C, et al: Trinucleotide repeat length and progression of illness in Huntington’s disease. J Med Genet 1994; 31:872–874[Abstract/Free Full Text]
- Harper P: Huntington’s Disease. London, WB Saunders, 1996
- Rolland JS, Williams JK: Toward a biopsychosocial model for 21st-century genetics. Fam Proc 2005; 44:3–24[CrossRef]
- Kissane DW, Bloch S: Family-focused grief therapy: a model of family-centred care during palliative care and bereavement. Buckingham, Open University Press, 2002
- Folstein SE, Franz ML, Jensen BA, et al: Conduct disorder and affective disorder among the offspring of patients with Huntington’s disease. Psychol Med 1983; 13:45–52[Medline]
- Wong MT, Chang PC, Yu YL, et al: Psychosocial impact of Huntington’s disease on Hong Kong Chinese families. Acta Psychiatr Scand 1994; 90:16–18[CrossRef][Medline]
- Holahan CJ, Moos RH: The quality of social support: measures of family and work relationships. Br J Clin Psychol 1986; 22:157–162
- Moos BR, Moos BS: The Family Environment Scale, Revised Edition. Palo Alto, CA, Consulting Psychologists Press, 1986
- Parker G, Roussos J, Hadzi-Pavlovic D, et al: The development of a refined measure of dysfunctional parenting and assessment of its relevance in patients with affective disorders. Psychol Med 1997; 27:1193–1203[CrossRef][Medline]
- Kessler RC, Andrews G, Colpe LJ, et al: Short screening scales to monitor population prevalences and trends in nonspecific psychological distress. Psychol Med 2002; 32:959–976[CrossRef][Medline]
- Jorm AF, Griffiths KM, Christensen H, et al: Actions taken to cope with depression at different levels of severity: a community survey. Psychol Med 2004; 34:293–299[CrossRef][Medline]
- Rumpold VG, Doering S, Hofer S, et al: Der fragebogen dysfuntionaler elterlicher beziehungsstile (FDEB). Psychosom Med Psychother 2002; 48:59–74
- Gladstone GL, Parker GB, Mitchell PB, et al: Implications of childhood trauma for depressed women: an analysis of pathways from childhood sexual abuse to deliberate self-harm and revictimization. Am J Psychiatry 2004; 161:1417–1425[Abstract/Free Full Text]
- Kessler S, Bloch M: Social system responses to Huntington disease. Fam Proc 1989; 28:59–68[CrossRef]
- Skirton H, Glendinning N: Using research to develop care for patients with Huntington’s disease. Br J Nursing 1997; 6:83–90[Medline]
- McDaniel SH: The psychotherapy of genetics. Fam Proc 2005; 44:25–44[CrossRef]
- Aubeeluck A: Caring for the carers: quality of life in Huntington’s disease. Br J Nurs 2005; 14:452–454[Medline]
- Neimeyer RA: Meaning reconstruction and the experience of chronic loss, in Living With Grief When Illness Is Prolonged. Edited by Doka KJ. Washington, DC, Hospice Foundation of America, 1977
- Doka K: Disenfranchised grief, in Disenfranchised Grief: Recognizing Hidden Sorrow. Edited by Doka K. New York, Toronto, Lexington Books, 1989
- Sobel S, Cowan CB: Ambiguous loss and disenfranchised grief: the impact of DNA predictive testing on the family as a system. Fam Proc 2003; 42:47–57[CrossRef]
- Benjamin CM, Lashwood A: United Kingdom experience with presymptomatic testing of individuals at 25% risk for Huntington’s disease. Clin Genet 2000; 58:41–49[CrossRef][Medline]
- Brouwer-Dudokdewit AC, Savenije A, Zoeteweij MW, et al: A hereditary disorder in the family and the family life-cycle: Huntington disease as a paradigm. Fam Proc 2002; 41:677–692[CrossRef]
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ABSTRACT
INTRODUCTION
