Aug 2026· Neurology International· Vol 18, pp. 159· 0 citations· 19 references
Medicine
TL;DR
Broad MRI abnormalities were frequent among patients selected for imaging because of additional clinical concerns, but a broad abnormal code is not equivalent to clinically actionable yield, and findings favor individualized MRI decisions based on the clinical question prompting imaging.
Abstract
Background: Brain MRI in patients with autism spectrum disorder (ASD) is generally considered when additional neurologic, developmental, or syndromic concerns warrant structural evaluation. In the study practice, ASD alone was not used as the reason to obtain MRI. We examined documented MRI use and broad result coding while explicitly separating selection for imaging from abnormal-result status. Methods: This retrospective specialty-practice cohort included 1884 patients with ASD. The primary outcome was the proportion of documented MRI examinations coded abnormal. Secondary analyses examined associations of age, sex, seizure history, EEG status, and genetic test status with abnormal versus normal MRI coding and with documented MRI utilization. MRI categories and the pediatric restriction were exploratory and sensitivity analyses. Results: An MRI result was recorded for 704 patients (37.4%; 95% CI 35.2–39.6); 322 were coded abnormal (45.7%; 95% CI 42.0–49.5). The abnormal-result models had low in-sample discrimination (AUC 0.528 and 0.553), and adjusted confidence intervals for all measured variables included 1.00; these results do not demonstrate equivalence between clinical groups. Seizure history was associated with documented imaging in the full cohort (aOR 2.47, 95% CI 1.94–3.14), and abnormal EEG was associated in the exploratory complete-case utilization model (aOR 2.83, 95% CI 1.93–4.14). Conclusions: Broad MRI abnormalities were frequent among patients selected for imaging because of additional clinical concerns, but a broad abnormal code is not equivalent to clinically actionable yield. The routinely captured variables available in this dataset were insufficient to distinguish abnormal from normal MRI coding. These findings favor individualized MRI decisions based on the clinical question prompting imaging and motivate future studies with richer neurologic and developmental phenotyping.
Background: Genetic testing in autism spectrum disorder (ASD) can reveal a wide range of chromosomal and sequence-level abnormalities, yet large real-world neurology cohorts rarely report the full spectrum of findings alongside clinical correlates and patterns of testing. We characterized genetic findings in an 1884-pa...
The current evidence suggests that the hippocampus may undergo multimodal alterations in ASD, spanning morphometric, microstructural, metabolic, functional, and perfusion domains, and that these alterations may be age-dependent.
Gabriel Moreli Ribeiro, Érico de Carvalho Leitão Pimentel, Larissa de Goes et al.· Trends in Psychiatry and Psy...· 0 citations
Background Adult ADHD and autism assessment services increasingly receive clinically heterogeneous referrals in which the sequelae of childhood adversity may overlap with neurodevelopmental presentations. The distribution and clinical significance of adverse childhood experiences (ACEs) in this referral population rema...
M. Adamou, Sarah L. Jones, Olivia Smith· Frontiers in Psychology· 0 citations
Myoclonic epilepsy is a heterogeneous group of pediatric epilepsies with variable clinical, EEG, and MRI findings. Data from Egyptian children are limited. To describe the clinical, EEG, and MRI features of Egyptian children with myoclonic epilepsy and examine their relation to seizure burden. This cross-sectional stud...
Mostafa M. Abdelnaser, Shora Mostafa, N. Metwally et al.· The Egyptian Journal of Neur...· 0 citations
Although the observed 4:1 ratio aligns with global trends, the findings suggest under-identification of females, and gender-sensitive diagnostic tools are needed to improve detection and understanding of ASD in females.
Nishant Prabhakaran, S. Kaku, Ann Maria Moncy et al.· Journal of Autism and Develo...· 0 citations
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