Table 1
Reasons for Disclosure vs. Nondisclosure in Giving a Clinical Diagnosis of HD
Reasons for Giving Full Information and an Earlier Diagnosis
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Reasons for Delaying Information about Earliest Manifestations and Early Diagnosis
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Table 2
Hypothetical Cases and Comments Reflecting the Authors’ Experience
| Case 1: A middle-aged person carried a mutation of the same length as their father who had late-onset disease. Their occupation required planning and flexibility. The person complained of poor organizational skills at a time when the UHDRS motor score was less than 5. Neuropsychological testing revealed impairment, attributed to depression and anxiety. Brain MRI showed caudate atrophy. A diagnosis made on behavioral and imaging data allowed medical retirement. Definite HD motor signs developed 4 years later, about 20 years younger than the father’s age of onset. Comments: Individual age of disease onset cannot be predicted from the size of the trinucleotide repeat expansion. Other factors likely modify age of onset and variation in families. This person with preserved awareness had an occupation that alerted them to changes. A predominantly nonmotor onset can occur. An early diagnosis before definite motor onset facilitated medical retirement and supported and validated their perceptions of impairment. Case 2: A person aged 35 presented after the death of their mother following disease onset at age 45 years. They carried the same size trinucleotide expansion. They complained of poor organization, planning and depression impacting on their work. Examination revealed no motor features. The person stopped work to enjoy life. Neuropsychological testing, brain MRI, and PET scans were normal at presentation and at 3-year follow-up. Comment: A later onset would be more likely. Referral to a psychiatrist allowed assessment of depression. Not all behavioral and psychiatric manifestations are the result of HD, however this may be difficult to determine. Withholding the diagnosis until there is greater certainty that the manifestations are mHD is difficult when the person seeks a diagnosis. Case 3: A premanifest research participant lives alone and presented alone. They report a high level of functioning, including a job that requires fine motor skills, but lacked awareness of their obvious chorea. For confidentiality reasons, no workplace report is possible. No diagnosis was given, but follow-up was arranged. This person continued to work but did not return to follow-up visits. Comment: The dilemma is whether to inform a person of the diagnosis when unaware and reporting no difficulty, especially without informant input. Impairment of fine movement may be harmless in some occupations but could have consequences in others that require fine motor skills. Decisions about when and how to disclose the diagnosis are influenced by the degree of risk to the person and others, if this is known. Most research protocols do not allow discussion of clinical manifestations at a research visit. Case 4: A depressed, at-risk young person whose affected father had onset in his 40s has not undergone genetic testing. They discuss plans for a high-risk career. They are unaware of early signs but ask if there are any changes. Depression was treated, and plans were delayed until review with a companion. The probable early signs were discussed, baseline neuropsychological testing arranged, and ongoing review of depression. Comment: This situation demonstrates the conflict between “doing no harm” versus “duty of care.” It also demonstrates the need for honesty as this person is unlikely to progress in their chosen career. Although difficult to convey, timely diagnosis prevents future distress (e.g., investing in a career path that cannot be fulfilled). |
Table 3
Considerations Regarding HD Diagnosis and Disclosure
| The following should be considered: An individualized approach to every patient is essential What does this person know about HD, and what are their expectations for the future? What are the person’s expectations from the clinic visit? What support do they have? A companion’s report is valuable, particularly of impact on social and work place function. The person may not have symptoms or be aware of obvious signs of mHD.Awareness of signs and disease impact may be linked to adverse outcome (i.e., suicide). Some signs have no impact on function and go unnoticed. Look for another explanation as some manifestations are unrelated to mHD (e.g., depression). In the context of atypical presentations, is onset likely at the particular trinucleotide repeat length? If unsure, treat the symptom and arrange early review or appropriate referral and follow-up. Weigh the advantages of an immediate diagnosis and the need for interventions. Gradual introduction to a definite diagnosis, if this is safe. What is the impact on others, particularly the family? Remember the right of genetic family to know their risk in a timely manner. Discuss future disclosure about mHD, the disease prodrome, and earlier diagnosis after a premanifest genetic test result. The reaction to disclosure of mHD, and of identifying previously unrecognized prodromal findings, may be unpredictable. |