Discordance between Reports of Internalized Symptoms in Persons with Parkinson's Disease and Informants: Results from an Online Survey.

BACKGROUND: Self-report of motor and non-motor symptoms is integral to understanding daily challenges of persons with Parkinson's disease (PwPD). Care partners are often asked to serve as informants regarding symptom severity, raising the question of concordance with PwPD self-reports, especially regarding internalized (not outwardly visible) symptoms. OBJECTIVES: Concordance between PwPD and informant ratings of motor and non-motor symptoms was evaluated across multiple domains. METHODS: In 60 PwPD-informant pairs, we compared ratings on 11 online self-report measures comprising 33 total scores, 2/3 of which represented purely internalized symptoms. For discordant scores, multiple regression analyses were used to examine demographic/clinical predictors. RESULTS: Though concordant on 85% of measures, PwPD endorsed more non-motor symptoms, bodily discomfort, stigma, and motor symptoms than informants. For PwPD, younger age, greater disease severity, and female gender predicted discordance. CONCLUSIONS: Discordance between PwPD and informants on measures assessing symptoms that cannot be outwardly observed may require targeted education.

Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.

OBJECTIVE: Tuberous sclerosis complex (TSC) is associated with focal brain "tubers" and a high incidence of autism spectrum disorder (ASD). The location of brain tubers associated with autism may provide insight into the neuroanatomical substrate of ASD symptoms. METHODS: We delineated tuber locations for 115 TSC participants with ASD (n = 31) and without ASD (n = 84) from the Tuberous Sclerosis Complex Autism Center of Excellence Research Network. We tested for associations between ASD diagnosis and tuber burden within the whole brain, specific lobes, and at 8 regions of interest derived from the ASD neuroimaging literature, including the anterior cingulate, orbitofrontal and posterior parietal cortices, inferior frontal and fusiform gyri, superior temporal sulcus, amygdala, and supplemental motor area. Next, we performed an unbiased data-driven voxelwise lesion symptom mapping (VLSM) analysis. Finally, we calculated the risk of ASD associated with positive findings from the above analyses. RESULTS: There were no significant ASD-related differences in tuber burden across the whole brain, within specific lobes, or within a priori regions derived from the ASD literature. However, using VLSM analysis, we found that tubers involving the right fusiform face area (FFA) were associated with a 3.7-fold increased risk of developing ASD. INTERPRETATION: Although TSC is a rare cause of ASD, there is a strong association between tuber involvement of the right FFA and ASD diagnosis. This highlights a potentially causative mechanism for developing autism in TSC that may guide research into ASD symptoms more generally. ANN NEUROL 2023;93:577-590.