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All in the Family: Huntington’s Disease, Variability and Challenges for Clinical Neuropsychology

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Neuropsychological Formulation

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Abstract

Huntington’s disease (HD) is a progressive neurodegenerative disorder caused by a single autosomal dominant gene. Despite this, there is surprising variability in the triad of clinical symptoms (movement disorder, impaired cognition and mood/psychiatric disturbance) and functional problems that develop. Not only does age of symptom onset vary, but symptoms present at onset and across the span of clinical disease may vary from person-to-person. This variability in HD brings challenges to neuropsychological assessment and formulation. Effective HD formulations require a skilled and targeted clinical interview, use of neuropsychological measures sensitive to early HD-related cognitive changes and not unduly affected by motor impairments, and the ability to gain optimal performance from clients potentially with significant mood issues. Understanding the modulating effects of situational and social factors in the expression of the clinical symptoms of HD is also essential. To illustrate these points, we present the cases of two brothers carrying almost identical HD genes, with neuropsychological data collected at two time points, with follow-up for 10 years. Onset of earliest HD symptoms of these brothers differed by 15 years. Their symptom profiles also differed, particularly their cognitive performances and mood disturbance. The value of a sound neuropsychological formulation for HD is that it involves not only interpreting data from neuropsychological assessment, but integrating functional information across multiple domains (e.g. familial, work and social contexts). Thus, it can capture the clinical complexity of HD. Many of the HD lessons—clinical variability, complexity and deterioration over time—can be applied to other neurodegenerative conditions.

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Authors and Affiliations

  1. School of Psychology and Centre for Brain Research, The University of Auckland, Room 660, Level 6, Main Office, Human Sciences Building, 10 Symonds Street, Auckland, New Zealand

    Asso. Prof. Lynette J. Tippett & Virginia M. Hogg

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  1. Asso. Prof. Lynette J. Tippett
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  2. Virginia M. Hogg
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Correspondence to Lynette J. Tippett .

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Editors and Affiliations

  1. Auckland City Hospital, Auckland, Australia

    Jamie A.B. Macniven

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Tippett, L., Hogg, V. (2016). All in the Family: Huntington’s Disease, Variability and Challenges for Clinical Neuropsychology. In: Macniven, J. (eds) Neuropsychological Formulation. Springer, Cham. https://doi.org/10.1007/978-3-319-18338-1_4

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