Behavior is the product of interconnected brain regions that work together as networks. This case study examines whether there are differences between a participant with a large congenital left temporal lobe cyst, which impacted the volume of structures in the region, and control subjects of similar age on cognitive tasks and network connectivity as measured by resting-state functional magnetic resonance imaging (rs-fMRI).

The case participant (CP; 71 year old female) and controls (CON; n = 25; 48% female) were recruited as part of a larger aging study. CON were chosen from the larger study population by age (+/- 10 years from CP; Range = 68-86 years). Cognitive tasks included: Shopping list memory task, Montreal Cognitive Assessment, WAIS-IV subtests: Digit Span, Digit-Symbol, Symbol Span, and Letter-Number Sequencing. For rs-fMRI, we administered four blood-oxygen level dependent (BOLD) functional connectivity (rs-fMRI) scans at 6 minutes each. Image processing was conducted using the CONN toolbox. Independent sample t-tests evaluated differences between CP and CON. Segregation was evaluated in the Auditory (Au), Cerebellar-basal ganglia (CBBG), Cingulo-Opercular Task Control (COTC), Dorsal Attention (DA), Default Mode (DMN), Fronto-Parietal Task Control (FPTC), Salience (Sa), Sensory Somatomotor Hand (SSH), Sensory Somatomotor Mouth (SSM), Visual (Vi), and Ventral Attention (VA) networks to assess CP’s functional segregation by network throughout the brain. Bonferroni correction was applied to account for multiple comparisons in cognitive testing (.05/7 for significance at p < 0.007) and network segregation (.05/11 for significance at p < .005).

Independent samples t-tests did not reveal significant differences across cognitive tasks (t(24) <1.04, p > .05). Network segregation did not reveal significant differences between CP and CON across networks examined (t(24) < 1.269, p > .005). However, DMN and DA segregation trended toward significance (t(24) = -2.724, p = .006 and t(24) =-2.006, p = .028), respectively) with CP demonstrating lower segregation as compared to CON.

CP performed similarly on cognitive testing to CON, indicating that the congenital presence of a large temporal lobe cyst did not impact global cognition, list learning and memory, working memory, or processing speed. CP did not demonstrate significantly different segregation across networks of interest after Bonferroni correction. Our cognitive performance results are consistent with a similar case-study examining language, which revealed intact linguistic abilities (Tuckete et al., 2022). The lack of differences in cognitive performance and segregation highlight the capacity for plasticity in the human brain, even in the presence of a large structural abnormality. This also suggests that the processes of aging in this case are not markedly different from controls. In future research we intend to expand on this case study by evaluating right temporal to hippocampal seeds and language network seeds to delve deeper into memory and language functioning.

Children with congenital heart disease (CHD) have increased likelihood for Autism Spectrum Disorder (AuSD; Sigmon, Kelleman, Susi, Nylung & Oster, 2020). Even those not meeting full criteria remain at greater risk for problems with social processing/communication (Cassidy et al, 2018). The current study examined what symptoms indicative of potential AuSD were qualitatively reported by parents, and what symptoms were noted behaviorally by clinicians. These behaviors may be targets for both further clinical inquiry and intervention.

A retrospective chart review of CHD patients seen for neuropsychological assessment between the ages of 6-18 years and between 2016-2021 was conducted. The final sample included 88 patients (Ethnicity: 14% Hispanic; Race: 76% White, 17% Black/African American, 5% Asian, 1% Native American, 1% Unknown). A coding system for AuSD symptoms was derived by the authors, who are experienced in AuSD diagnosis and assessment, based on DSM-5 criteria. A comprehensive list of behaviors consistent with each symptom category was generated, and assessment reports were subsequently reviewed noting the presence, absence or “no mention” of each symptom. A second coding system was derived to assess for AuSD symptoms documented in each report’s behavioral observations. Three pediatric neuropsychologists, one post-doctoral fellow, and one psychometrist were coders, with very good reliability (k=.854 (95% CI, .827 to .881), p < .0001).

Twelve patients (14%) were diagnosed with AuSD. Age of diagnosis ranged from 3-14 years (M=7.82, SD=3.92). Main concerns parents expressed included difficulty with reciprocal conversation (75%), making friends (75%), initiating and maintaining social interactions (67%), and restrictive/intense interests (58%). During testing, providers noted variable eye contact (67%), appropriate responses to questions but minimal social conversation (67%), and exaggerated prosody (42%). Of those who did not have an AuSD diagnosis, the most frequent parent concerns included difficulty making friends (38%), difficulty initiating or maintaining social interactions (33%), atypical affect (25%), and restrictive/intense interests (18%). In this sample, providers noted concerns with answering questions but not maintaining conversation (26%), flat affect (16%), loud (17%) or soft (21%) speech volume, and socially immature behaviors (10%). Within this No Diagnosis group, general social concerns were highly correlated (point biserial) with more specific autism symptoms (e.g., intense interests, difficulty with transitions, sensory sensitivities r = .986 - .784), although most often the presence or absence of these concerns were not documented.

We examined qualitative parent-reported and provider-observed behaviors indicative of potential AuSD as detailed in a comprehensive neuropsychological evaluation report. Behaviors in children with formal AuSD diagnoses were consistent with that diagnosis, based on both parent and provider description. Of note, in children without AuSD, though, both parents and providers reported AuSD-like concerns (e.g., social communication/interaction problems, atypical interests, atypical affect, atypical speech volume) in a large minority of children. It is important that if general social concerns are present, that providers follow-up on, and document, a broader constellation of AuSD symptoms. These behaviors deserve further exploration and study within the CHD population and are important areas of inquiry in any clinical evaluation, as they should directly inform intervention.

Agenesis of the corpus callosum(AgCC) is a disorder in which the connection between the two brain hemispheres is congenitally absent. Previous research has suggested that the auditory system can be affected in individuals with AgCC (Demopoulos et al., 2015). However, the nature of AgCC’s effect on musical perception skills is unclear. This study investigated the impact of AgCC on the music perception skills in high-functioining adults using a brief version of the Profile of Music Perception Skills (PROMS; Zentner, M. & Strauß, H. 2017). It was hypothesized that individuals with AgCC would have diminished music perception abilities when compared to a neurotypical control group.

Participants included 10 high-functioning adults with AgCC that had an intelligence quotation within the normal range (FSIQ>80) and 63 neurotypical controls who were recruited via Cloud Research. During the PROMS the participants were asked to listen to two different sound excerpts after which they were asked whether the second sound was the same or different from the first (correct answers= 2 points, uncertain answers= 1 point, and remaining answers not coded). The participants answered questions in four different areas of musical perception: Melody, Tuning, Accent, and Tempo.

Results indicated that there was not a significant difference between the control group and the AgCC participants on music perception skills on the overall PROMS scores F(1,72)= .365, P-value= .548. Tested individually, none of the 4 individual domains showed a significant difference: Melody F(1,72)=2.67, P-value= .107; Tuning F(1,72)= .271, P-value= .606; Accent F(1,72)= .017, P-value= .897; or Tempo F(1,72)=.106, P-value= .746.

Contrary to the hypothesis of this study, the results showed that the participants with AgCC did not perform significantly differently in the PROMS total score when compared to neurotypical controls, nor were there significant differences in any of the four of the subtests (Melody, Tuning, Accent, and Tempo). Thus these high-functioning individuals with AgCC did not have deficient music perception abilities. These findings demonstrate that although the auditory system may be affected in some individuals with AgCC, we do not see differences in musical perception skills in high-functioning individuals with AgCC.