Background: Sleep disturbances, gastrointestinal problems, and atypical heart rate are commonly observed in patients with autism spectrum disorder (ASD) and may relate to underlying function of the autonomic nervous system (ANS). The overall objective of the current study was to quantitatively characterize features of ANS function using symptom scales and available electronic health record (EHR) data in a clinically and genetically characterized pediatric cohort. Methods: We assessed features of ANS function via chart review of patient records adapted from items drawn from a clinical research questionnaire of autonomic symptoms. This procedure coded for the presence and/or absence of targeted symptoms and was completed in 3 groups of patients, including patients with a clinical neurodevelopmental diagnosis and identified genetic etiology (NPD, n = 244), those with an ASD diagnosis with no known genetic cause (ASD, n = 159), and age and sex matched controls (MC, n = 213). Symptoms were assessed across four main categories: (1) Mood, Behavior, and Emotion; (2) Secretomotor, Sensory Integration; (3) Urinary, Gastrointestinal, and Digestion; and (4) Circulation, Thermoregulation, Circadian function, and Sleep/Wake cycles. Results: Chart review scores indicate an increased rate of autonomic symptoms across all four sections in our NPD group as compared to scores with ASD and/or MC. Additionally, we note several significant relationships between individual differences in autonomic symptoms and quantitative ASD traits. Conclusion: These results highlight EHR review as a potentially useful method for quantifying variance in symptoms adapted from a questionnaire or survey. Further, using this method indicates that autonomic features are more prevalent in children with genetic disorders conferring risk for ASD and other neurodevelopmental diagnoses.

BACKGROUND AND PURPOSE: Brain volumetrics have historically been obtained from MR imaging data. However, advances in CT, along with refined publicly available software packages, may support tissue-level segmentations of clinical CT images. Here, brain volumetrics obtained by applying two publicly available software packages to paired CT-MR data are compared. MATERIALS AND METHODS: In a group of patients (n = 69; 35 men) who underwent both MR imaging and CT brain scans within 12 months of one another, brain tissue was segmented into WM, GM, and CSF compartments using 2 publicly available software packages: Statistical Parametric Mapping and FMRIB Software Library. A subset of patients with repeat imaging sessions was used to assess the repeatability of each segmentation. Regression analysis and Bland-Altman limits of agreement were used to determine the level of agreement between segmented volumes. RESULTS: Regression analysis showed good agreement between volumes derived from MR images versus those from CT. The correlation coefficients between the 2 methods were 0.93 and 0.98 for Statistical Parametric Mapping and FMRIB Software Library, respectively. Differences between global volumes were significant (P < .05) for all volumes compared within a given segmentation pipeline. WM bias was 36% (SD, 38%) and 18% (SD, 18%) for Statistical Parametric Mapping and FMRIB Software Library, respectively, and 10% (SD, 30%) and 6% (SD, 20%) for GM (bias ± limits of agreement), with CT overestimating WM and underestimating GM compared with MR imaging. Repeatability was good for all segmentations, with coefficients of variation of <10% for all volumes. CONCLUSIONS: The repeatability of CT segmentations using publicly available software is good, with good correlation with MR imaging. With careful study design and acknowledgment of measurement biases, CT may be a viable alternative to MR imaging in certain settings.

INTRODUCTION:Features of underlying autonomic dysfunction, including sleep disturbances, gastrointestinal problems, and atypical heart rate, have been reported in neurodevelopmental conditions, including autism spectrum disorder (ASD). The current cross-sectional, between-groups study aimed to quantify symptoms of autonomic dysfunction in a neurodevelopmental pediatric cohort characterized by clinical diagnoses as well as genetic etiology.METHOD:The Pediatric Autonomic Symptom Scales (PASS) questionnaire was used to assess autonomic features across a group of patients with clinical neurodevelopmental diagnoses (NPD; N = 90) and genetic etiologies. Patients were subdivided based on either having a clinical ASD diagnosis (NPD-ASD; n = 37) or other non-ASD neurodevelopmental diagnoses, such as intellectual disability without ASD, speech and language disorders, and/or attention deficit hyperactivity disorder (NPD-OTHER; n = 53). Analyses focused on characterizing differences between the NPD group compared to previously published reference samples, as well as differences between the two NPD subgroups (NPD-ASD and NPD-OTHER).RESULTS:Our results indicate higher PASS scores in our NPD cohort relative to children with and without ASD from a previously published cohort. However, we did not identify significant group differences between our NPD-ASD and NPD-OTHER subgroups. Furthermore, we find a significant relationship between quantitative ASD traits and symptoms of autonomic function.CONCLUSION:This work demonstrates the utility of capturing quantitative estimates of autonomic trait dimensions that may be significantly linked with psychosocial impairments and other core clinical features of ASD.