Abstract
A key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and Faux Pas (FP) recognition tests were used to study social cognition within the Genetic Frontotemporal Dementia Initiative (GENFI), a large familial FTD cohort of C9orf72, GRN, and MAPT mutation carriers. 627 participants undertook at least one of the tasks, and were separated into mutation-negative healthy controls, presymptomatic mutation carriers (split into early and late groups) and symptomatic mutation carriers. Groups were compared using a linear regression model with bootstrapping, adjusting for age, sex, education, and for the FP recognition test, language. Neural correlates of social cognition deficits were explored using a voxel-based morphometry (VBM) study. All three of the symptomatic genetic groups were impaired on both tasks with no significant difference between them. However, prior to onset, only the late presymptomatic C9orf72 mutation carriers on the FER test were impaired compared to the control group, with a subanalysis showing differences particularly in fear and sadness. The VBM analysis revealed that impaired social cognition was mainly associated with a left hemisphere predominant network of regions involving particularly the striatum, orbitofrontal cortex and insula, and to a lesser extent the inferomedial temporal lobe and other areas of the frontal lobe. In conclusion, theory of mind and emotion processing abilities are impaired in familial FTD, with early changes occurring prior to symptom onset in C9orf72 presymptomatic mutation carriers. Future work should investigate how performance changes over time, in order to gain a clearer insight into social cognitive impairment over the course of the disease.
Highlights
The impairment of social skills is one of the most prominent symptoms experienced by people with frontotemporal dementia (FTD) (Adenzato, Cavallo, & Enrici, 2010; Kumfor and Piguet, 2012)
Imaging analysis In the chromosome 9 open reading frame 72 (C9orf72) mutation carriers, faux pas (FP) recognition test score was positively correlated with grey matter density in the left superior frontal gyrus, middle temporal gyrus, precuneus and lingual gyrus, as well as the insula and temporal lobe in the right hemisphere (Table S16, Fig. 5)
In this study we have demonstrated that both the facial emotion recognition (FER) and FP recognition tests are able to detect social cognition deficits in familial forms of FTD during the symptomatic period, but only the FER test was able to detect presymptomatic deficits, within C9orf72 expansion carriers in proximity to symptom onset
Summary
The impairment of social skills is one of the most prominent symptoms experienced by people with frontotemporal dementia (FTD) (Adenzato, Cavallo, & Enrici, 2010; Kumfor and Piguet, 2012). Whilst there have been a number of studies exploring these skills in sporadic FTD, few have focused on people with the genetic forms of FTD, characterized usually by mutations in the progranulin (GRN), tau (MAPT) and chromosome 9 open reading frame 72 (C9orf72) genes (Jiskoot et al, 2016, 2018, Cheran et al, 2019). The Genetic FTD Initiative (GENFI) is an international genetic FTD cohort study, aimed at investigating early biomarkers, including measures of cognition (Rohrer et al, 2015) Using this cohort we aimed to assess emotion processing and theory of mind abilities in a large cortex 1 3 3 ( 2 0 2 0 ) 3 8 4 e3 9 8 cohort of presymptomatic and symptomatic individuals with mutations in the C9orf, GRN and MAPT genes, with the hypothesis that social cognitive deficits would become apparent only late in the presymptomatic period or when symptomatic
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