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. 2020 Aug 11;10(8):543.
doi: 10.3390/brainsci10080543.

Behavioral Deficits in Juvenile Onset Huntington's Disease

Kathleen E Langbehn  1 , Ashley M Cochran  1 , Ellen van der Plas  1 , Amy L Conrad  2 , Eric Epping  1 , Erin Martin  1 , Patricia Espe-Pfeifer  1 , Peg Nopoulos  1   2   3
Affiliations

Behavioral Deficits in Juvenile Onset Huntington's Disease

Kathleen E Langbehn et al. Brain Sci. .

Abstract

Reports of behavioral disturbance in Juvenile-Onset Huntington's Disease (JOHD) have been based primarily on qualitative caregiver reports or retrospective medical record reviews. This study aims to quantify differences in behavior in patients with JOHD using informant- and self-report questionnaires. Informants of 21 children/young adults (12 female) with JOHD and 115 children/young adults (64 female) with a family history of Huntington's Disease, but who did not inherit the disease themselves (Gene-Non-Expanded; GNE) completed the Behavior Rating Inventory of Executive Function (BRIEF) and the Pediatric Behavior Scale (PBS). Mixed linear regression models (age/sex adjusted) were conducted to assess group differences on these measures. The JOHD group had significantly higher scores, indicating more problems, than the GNE group on all BRIEF subscales, and measures of Aggression/Opposition and Hyperactivity/Inattention of the PBS (all p < 0.05). There were no group differences in Depression/Anxiety. Inhibit, Plan/Organize, Initiate, and Aggression/Opposition had significant negative correlations with Cytosine-Adenine-Guanine (CAG) repeat length (all p < 0.05) meaning that individuals with higher CAG repeats scored lower on these measures. There was greater discrepancy between higher informant-vs. lower self-reported scores in the JOHD group, supporting the notion of lack of insight for the JOHD-affected group. These results provide quantitative evidence of behavioral characteristics of JOHD.

Keywords: Huntington’s disease; behavioral regulation; executive function; trinucleotide repeat disorder.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Differences in Behavior Rating Inventory of Executive Function (BRIEF) subscale scores between JOHD (blue) and GNE (red) participants. The x-axis shows age- and sex-adjusted estimates from mixed linear effects models after controlling for random effects of repeated measures and family ID. The y-axis shows subscales of the Behavioral Rating Inventory of Executive Function (BRIEF). The larger circles represent the means and horizontal lines indicate 95% confidence limits.
Figure 2
Figure 2
Differences in Pediatric Behavior Scale (PBS) subscale scores between JOHD (blue) and GNE (red) participants. The x-axis shows age- and sex-adjusted estimates from mixed linear effects models after controlling for random effects of repeated measures and family ID. The y-axis shows subscales of the Pediatric Behavior Scale-short form (PBS). The larger circles represent the means and horizontal lines indicate 95% confidence limits.
Figure 3
Figure 3
Differences in discrepancies between informant- and self-reported BRIEF-Adult (BRIEF-A) subscale scores between JOHD (blue) and GNE (red) participants. The x-axis shows the difference between informant and self-reported scores (calculated as informant—self) on the Behavioral Rating Inventory of Executive Function-Adult form (BRIEF-A); age- and sex-adjusted estimates are plotted from mixed linear effects models after controlling for random effects of family ID. The larger circles represent the means and horizontal lines indicate 95% confidence limits. The vertical black line at 0 marks no difference between informant and self-report scores.
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