Huntington’s Disease (HD): A Basic Review for Professionals

Huntington’s disease (HD) is a terminal neurodegenerative disorder, which affects cognitive, motor and behavioral functioning (Abel & Zukin, 2008; Lin & Beal, 2006). The disorder has long been suspected to be heritable and in 1993, after decades of research, scientists identified the causal gene.  The genetic mutation is transferred to offspring by a single gene from one parent.  Carriers of the Huntington gene mutation have a 50% chance of passing on the mutation to every child (Andersson, Juth, Petersén, Graff, & Edberg, 2013).  A laboratory blood test verifies a positive diagnosis.  Additionally, research suggests that the onset and severity of Huntington’s disease are indicated by the number of repeated CAG counts on chromosome 4 (Vassos, Panas, Kladi, & Vassilopoulos, 2008).  Higher numbers of repeats indicate the possibility of earlier onset and more severe declines in functioning.  The aim of the current article is to provide brief educational material regarding this disorder, to present accessible information for professionals working with individuals who are affected by Huntington’s, and to encourage additional consultation regarding this topic.

Anyone who is a carrier of HD will eventually exhibit symptoms of the disorder (Brouwer‐DudokdeWit, Savenije, Zoeteweij, Maat‐Kievit & Tibben, 2002).  Most individuals with Huntington’s disease are diagnosed in their 30s-50s, although rapidly progressing juvenile forms of the disease can be diagnosed during the early adolescent years (Scerri, & Cassar, 2013). In each of these versions, cognitive changes may begin up to 15 years early (Nance, Paulsen, Rosenblatt, Wheelock, 2001).  Those suffering from juvenile onset HD tend to have a larger range of clinical symptoms than those suffering from adult onset HD.  These clinical symptoms can include an increased likelihood of seizures, oral motor dysfunction, and increased behavioral disturbance (Gonzalez-Alegre & Afifi, 2006; Nance & Meyers, 2001).  The expected lifespan for individuals suffering from HD is generally 15-20 years post-diagnosis (Krobitsch & Kazantsev, 2010).

Huntington’s disease is typically first indicated by the declines in the ability to emotionally regulate, organize thoughts or spaces, and navigate complex decisions.  These symptoms make early diagnoses difficult.  The first visual symptoms characteristic to HD is chorea. Chorea is an uncontrollable, jerky “dance like” movement (Nance & Meyers, 2011). Individuals displaying chorea movement may appear to have a tic, twitch or appear intoxicated due to progressive loss of voluntary movements.  Eventually chorea becomes constant and has a significant effect on an individual’s metabolic rate such that weight loss becomes common during the later stages (Krobitsch & Kazantsev, 2010).

There is presently no cure for Huntington’s disease.  As such any treatments for HD focus on the reduction of symptoms, proactive awareness of and management of disease progression, and palliative care (Murphy, et. al., 2015).  Many of the associated psychiatric symptoms such as depression, anxiety, mania, obsessions, compulsions, and psychosis are manageable with medications and/or psychotherapy (Nance & Meyers, 2011).  Individuals suffering from HD grow increasingly less able to verbalize their thoughts and process information; one of the greatest challenges identified by patients, family members, and caregivers is the adjustment to the changes in cognition and diminishing ability to communicate (Hartelius, et al, 2010).

The latter stages of Huntington’s are marked by severe declines in muscle coordination and pneumonia, which are leading causes of death (Heemskerk & Roos, 2012).  Individuals may easily aspirate on food or water as they lose the ability to clear their air pathways.  In addition, they are also particularly susceptible to similar airway blockages and complications caused by pneumonia.

Researchers searching for treatments and a cure are working fervently to find relief for patients with Huntington’s.  As many of the symptoms are shared with other neurodegenerative cognitive disorders, research focusing on other diseases (e.g., Alzheimer’s, Parkinson’s, ALS, MS) benefits the HD community, and likewise HD research benefits the counterparts.  The following four informational pieces are specifically designed to be of assistance to psychologists and therapists working with this population.

Firstly, HD is a complex family disease and reasons for seeking therapy may vary.  Affected individuals may deal with grief, reproductive concerns, substance abuse, irritability, apathy, paranoia, and end of life concerns (Goh, 2011).  Individuals within the family who have not been tested or diagnosed wrestle with anxiety about their own possible diagnosis and their children’s possibility of testing positive, apprehension about genetic testing, and fears that their own future is being foreshadowed as they support the diagnosed family member.  Both diagnosed and undiagnosed individuals in family planning stages may struggle with personal ethical dilemmas regarding prenatal and predictive genetic testing options.  Individuals who have tested negative may wrestle with survivor’s guilt and diagnosed individuals may struggle with feelings of envy and future demise (Meiser & Dunn, 2001).

Secondly, psychiatric symptoms often occur 10 or more years earlier than HD onset (Paulsen et al. 2008). Patients who have HD are often diagnosed with psychiatric disorders related to symptoms that display prior to the advent of the full-blown symptoms of Huntington’s.  This time period, known as the prodromal period, occurs before recognizable motor symptoms lead to the diagnosis of HD, during which cognitive and psychiatric symptoms may occur (Van Liew, Gluhm, Goldstein, Cronan & Corey-Bloom, 2013).  Psychiatric symptoms which mimic depression and anxiety, are often noticed first and are treatable through pharmacotherapy, psychotherapy, behavioral modification strategies, and family education (Nance et al., 2011).

Thirdly, patients who have HD need a longer response time when asked a question, or to respond during conversation. The wait time may be uncomfortable for some, but is important to allow a person with HD time to understand the question, search for an answer, and then articulate a response (Nance et al., 2011).

Finally, suicide is more common among HD affected individuals than the general population.  It is a leading cause of death for individuals who are diagnosed with Huntington’s disease (Booij, Engberts, Tibben & Roos, 2013; Nance et al., 2011).  Symptoms of depression are intensified by the loss of work, relationships, independence, driver’s license, home and ability to care for oneself. Those at-risk for HD, and those who have the disease, should be asked about suicidal ideations on a routine basis (Robins Wahlin, Bäckman, Lundin, Haegermark, Winblad & Anvret, 2000).

Jerrod Brown, MA, MS, MS, MS, is the Treatment Director for Pathways Counseling Center, Inc. Pathways provides programs and services benefitting individuals impacted by mental illness and addictions. Jerrod is also the founder and CEO of the American Institute for the Advancement of Forensic Studies (AIAFS) and the lead developer and program director of an online graduate degree program in Forensic Mental Health from Concordia University, St. Paul, Minnesota. Jerrod is in the dissertation phase of his doctorate degree in psychology. 

Jessica Marsolek, LSW, is the social worker for the Minnesota Chapter of The Huntington’s Disease Society of America (HDSA). HDSA is the largest volunteer organization, dedicated to improving the lives of those affected by HD. Jessica is also an elementary school social worker in the Independent School District #15.  Jessica is also currently pursuing her master’s degree in Social Work. 

Martha Nance, M.D., has been the Medical Director of the Huntington’s Disease Center at HCMC since 1991. She is board certified in neurology and genetics. She leads the Huntington’s Disease Center’s research efforts and is an investigator in many Huntington’s Disease trials. She is also a medical advisor to the Minnesota chapter of Huntington’s Disease Society of America. Dr. Nance has written two books published by the Huntington Disease Society of America about Huntington Disease (HD), as well as several articles and book chapters, with a special interest in children with HD, genetic aspects of HD, and team management of HD and late stage HD. She also teaches medical students and health professionals about all aspects of HD.

Mario L. Hesse, Ph.D., is a professor of Criminal Justice at St. Cloud State University. Dr. Hesse’s areas of research focus on corrections, delinquency, gangs, and media and crime. 

References

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Andersson, P. L., Juth, N., Petersén, Å., Graff, C., & Edberg, A. K. (2013). Ethical aspects of undergoing a predictive genetic testing for Huntington’s disease. Nursing ethics, 20(2), 189-199.

Booij, S. J., Engberts, D. P., Tibben, A., & Roos, R. A. (2013). Euthanasia and physician-assisted suicide in Huntington’s disease in The Netherlands. International Psychogeriatrics, 25(02), 339-340.

Brouwer‐DudokdeWit, A. C., Savenije, A., Zoeteweij, M. W., Maat‐Kievit, A., & Tibben, A. (2002). A hereditary disorder in the family and the family life cycle: Huntington disease as a paradigm. Family process, 41(4), 677-692.

Goh, A. (2011). The Behavioural and Psychological Symptoms of Huntington’s Disease – A practical guide to assist in caring for a person with HD. Retrieved March 23, 2015, from https://www.huntingtonsvic.org.au/virtual-library/resources-list/doc_view/118-the-behavioural-and-psychological-symptoms-of-huntington-s-disease

Gonzalez-Alegre, P., & Afifi, A. K. (2006). Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature. Journal of child neurology, 21(3), 223-229.

Hartelius, L., Jonsson, M., Rickeberg, A., Laasko, K. (2010). Communication and Huntington’s disease: qualitative interviews and focus groups with persons with Huntington’s disease, family members, and carers. International Journal of Language and Communication Disorders, 45, 381-393.

Heemskerk, A. W., & Roos, R. A. (2012). Aspiration pneumonia and death in Huntington’s disease. PLoS currents, 4.

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Murphy, E., Froggatt, K., Connolly, S., O’Shea, E., Sampson, E. L., Casey, D., & Devane, D. (2015). Palliative care interventions in advanced dementia. The Cochrane Library.

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Robins Wahlin, T. B., Bäckman, L., Lundin, A., Haegermark, A., Winblad, B., & Anvret, M. (2000). High suicidal ideation in persons testing for Huntington’s disease. Acta Neurologica Scandinavica, 102(3), 150-161.

Scerri, J., & Cassar, R. (2013). Qualitative study on the placement of Huntington disease patients in a psychiatric hospital: Perceptions of Maltese nurses. Nursing & health sciences, 15(4), 444-448.

Van Liew, C., Gluhm, S., Goldstein, J., Cronan, T. A., & Corey-Bloom, J. (2013). The functional implications of motor, cognitive, psychiatric, and social problem-solving states in Huntington’s disease. Psychiatry, 76(4), 323-335.

Vassos, E., Panas, M., Kladi, A., & Vassilopoulos, D. (2008). Effect of CAG repeat length on psychiatric disorders in Huntington’s disease. Journal of psychiatric research, 42(7), 544-549.

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