Diagnostic assessment of autism spectrum disorder in transgender and gender diverse youth.

Objective: Higher prevalence of autism spectrum disorder (ASD) diagnosis and associated traits has been observed among transgender and gender diverse (TGD) youth, and the number of TGD youth requesting evaluation for autism is growing. This study explored the demographic and clinical profiles of TGD youth evaluated in a specialty autism clinic. Method: Retrospective autism evaluation results for 41 TGD youth aged 5-18 years and 67 cisgender-matched controls were included in the study. Results: Approximately, half of TGD youth were diagnosed with autism (TGDASD+; n = 19 vs. TGDASD-; n = 22). There were no group differences in sex assigned at birth, gender identity, FSIQ, race, or ethnicity. Compared to TGDASD- (allistic) youth, TGD autistics had significantly lower adaptive functioning and were more likely to have an IEP eligibility of ASD. Anxiety and mood disorders were more common in TGD youth, whereas language disorders were more prevalent in cisgender controls. Attention-Deficit/Hyperactivity Disorder (ADHD) was more common among TGDASD- youth (72%) than TGDASD+ youth (47%), though not significantly. Conclusions: TGD youth with school-based IEP eligibilities of ASD and lower adaptive functioning are more likely to be diagnosed with ASD upon medical evaluation. The combination of identifying as TGD and having ADHD may heighten suspicion for ASD. Asking about gender identity during autism evaluations for children middle school-aged and older is recommended.

Leveraging expertise and optimizing clinical research: Initial success of a pediatric epilepsy surgery collaborative.

OBJECTIVE: Improve data-driven research to inform clinical decision-making with pediatric epilepsy surgery patients by expanding the Pediatric Epilepsy Research Consortium Epilepsy Surgery (PERC-Surgery) Workgroup to include neuropsychological data. This article reports on the process and initial success of this effort and characterizes the cognitive functioning of the largest multi-site pediatric epilepsy surgery cohort in the United States. METHODS: Pediatric neuropsychologists from 18 institutions completed surveys regarding neuropsychological practice and the impact of involvement in the collaborative. Neuropsychological data were entered through an online database. Descriptive analyses examined the survey responses and cognitive functioning of the cohort. Statistical analyses examined which patients were evaluated and if composite scores differed by domain, demographics, measures used, or epilepsy characteristics. RESULTS: Positive impact of participation was evident by attendance, survey responses, and the neuropsychological data entry of 534 presurgical epilepsy patients. This cohort, ages 6 months to 21 years, were majority White and non-Hispanic, and more likely to have private insurance. Mean intelligence quotient (IQ) scores were below to low average, with weaknesses in working memory and processing speed. Full-scale IQ (FSIQ) was lowest for patients with younger age at seizure onset, daily seizures, and magnetic resonance imaging (MRI) abnormalities. SIGNIFICANCE: We established a collaborative network and fundamental infrastructure to address questions outlined by the Epilepsy Research Benchmarks. There is a wide range in the age and IQ of patients considered for pediatric epilepsy surgery, yet it appears that social determinants of health impact access to care. Consistent with other national cohorts, this US cohort has a downward shift in IQ associated with seizure severity.

Altered amygdala-prefrontal connectivity during emotion perception in schizophrenia.

Individuals with schizophrenia evidence impaired emotional functioning. Abnormal amygdala activity has been identified as an etiological factor underlying affective impairment in this population, but the exact nature remains unclear. The current study utilized psychophysiological interaction analyses to examine functional connectivity between the amygdala and medial prefrontal cortex (mPFC) during an emotion perception task. Participants with schizophrenia (SZ) and healthy controls (HC) viewed and rated positive, negative, and neutral images while undergoing functional neuroimaging. Results revealed a significant group difference in right amygdala-mPFC connectivity during perception of negative versus neutral images. Specifically, HC participants demonstrated positive functional coupling between the amygdala and mPFC, consistent with co-active processing of salient information. In contrast, SZ participants evidenced negative functional coupling, consistent with top-down inhibition of the amygdala by the mPFC. A significant positive correlation between connectivity strength during negative image perception and clinician-rated social functioning was also observed in SZ participants, such that weaker right amygdala-mPFC coupling during negative compared to neutral image perception was associated with poorer social functioning. Overall, results suggest that emotional dysfunction and associated deficits in functional outcome in schizophrenia may relate to abnormal interactions between the amygdala and mPFC during perception of emotional stimuli. This study adds to the growing literature on abnormal functional connections in schizophrenia and supports the functional disconnection hypothesis of schizophrenia.

Schizophrenia symptom and functional correlates of anterior cingulate cortex activation to emotion stimuli: An fMRI investigation.

Schizophrenia is a chronic mental illness characterized by distinct positive and negative symptoms and functional impairment. The anterior cingulate cortex (ACC) is a region of the brain's limbic system that is hypoactive during emotion processing in schizophrenia. Recent evidence suggests the hypoactive ACC in schizophrenia is due to negative (and not positive) symptoms. However, this finding has not been replicated and the functional significance of this relationship remains unclear. The present study examined the association between positive and negative symptoms, ACC activation to emotional images, and functional outcome in schizophrenia. Specifically, 16 schizophrenia/schizoaffective disorder (SZ/SZAF) and 15 control (CON) participants underwent an fMRI scan while completing an emotional picture-rating task. SZ/SZAF participants also completed clinician-rated measures of positive and negative symptoms and functional abilities. SZ/SZAF participants with high negative symptoms had reduced ACC activation to pleasant images relative to those with low negative symptoms and CON, who did not differ. Furthermore, amongst all SZ/SZAF participants poorer social functioning was associated with decreased ACC activation to pleasant images. Finally, ACC activation partially mediated the relationship between negative symptoms and social dysfunction. These results provide evidence of the functional significance of the relationship between negative symptoms and ACC dysfunction in schizophrenia.

Associations between trait anhedonia and emotional memory deficits in females with schizophrenia versus major depression.

Individuals with schizophrenia (SZ) and individuals with major depressive disorder (MDD) demonstrate impaired emotional memory and decreased enjoyment of pleasant experiences (e.g., anhedonia). However, it is unclear whether these impairments reflect similar or different processes in the two diagnostic groups. This study compared emotional memory performance in three groups of females - controls, MDD, and SZ. Given that physical and social trait anhedonia has been shown to differentiate course of illness and emotional functioning within each disorder, the present study also examined whether trait anhedonia related to emotional memory differently in the groups. Participants viewed emotional and neutral images and twenty-four hours later completed an incidental recognition test. SZ participants demonstrated a trend for the worst memory performance. Across all groups, high intensity and negative images were remembered most accurately, while groups were not differentially influenced by the valence of the stimuli. Physical anhedonia was predictive of reduced memory for negative stimuli across all diagnostic groups. Group specific findings indicated that higher levels of social anhedonia were predictive of poorer memory, but only in the SZ group. Effects remained significant when controlling for depressive symptoms. Results are considered in light of the differing role of anhedonia in SZ and MDD.