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Human infancy is marked by fastest postnatal brain structural changes. It also coincides with the onset of many neurodevelopmental disorders. Atlas-based automated structure labeling has been widely used for analyzing various neuroimaging data. However, the relatively large and nonlinear neuroanatomical differences between infant and adult brains can lead to significant offsets of the labeled structures in infant brains when adult brain atlas is used. Age-specific 1- and 2-year-old brain atlases covering all major gray and white matter (GM and WM) structures with diffusion tensor imaging (DTI) and structural MRI are critical for precision medicine for infant population yet have not been established. In this study, high-quality DTI and structural MRI data were obtained from 50 healthy children to build up three-dimensional age-specific 1- and 2-year-old brain templates and atlases. Age-specific templates include a single-subject template as well as two population-averaged templates from linear and nonlinear transformation, respectively. Each age-specific atlas consists of 124 comprehensively labeled major GM and WM structures, including 52 cerebral cortical, 10 deep GM, 40 WM, and 22 brainstem and cerebellar structures. When combined with appropriate registration methods, the established atlases can be used for highly accurate automatic labeling of any given infant brain MRI. We demonstrated that one can automatically and effectively delineate deep WM microstructural development from 3 to 38 months by using these age-specific atlases. These established 1- and 2-year-old infant brain DTI atlases can advance our understanding of typical brain development and serve as clinical anatomical references for brain disorders during infancy.
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Atlas como Asunto , Encéfalo , Imagen de Difusión Tensora , Sustancia Gris , Sustancia Blanca , Humanos , Lactante , Preescolar , Masculino , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/anatomía & histología , Sustancia Blanca/crecimiento & desarrollo , Femenino , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/crecimiento & desarrollo , Sustancia Gris/anatomía & histología , Imagen de Difusión Tensora/métodos , Encéfalo/diagnóstico por imagen , Encéfalo/crecimiento & desarrollo , Encéfalo/anatomía & histología , Procesamiento de Imagen Asistido por Computador/métodosRESUMEN
BACKGROUND: Improving access to magnetic resonance imaging (MRI) in childhood can be facilitated by making it faster and cheaper and reducing need for sedation or general anesthesia (GA) to mitigate motion. Some children achieve diagnostic quality MRI without GA through the use of non- practices fostering their cooperation and/or alleviating anxiety. Employed before and during MRI, these variably educate, distract, and/or desensitize patients to this environment. OBJECTIVE: To assess current utilization of non-sedate practices in pediatric MRI, including variations in practice and outcomes. MATERIALS AND METHODS: A survey-based study was conducted with 1372 surveys emailed to the Society for Pediatric Radiology members in February 2021, inviting one response per institution. RESULTS: Responses from 50 unique institutions in nine countries revealed 49/50 (98%) sites used ≥ 1 non-sedate practice, 48/50 (96%) sites in infants < 6 months, and 11/50 (22%) for children aged 6 months to 3 years. Non-sedate practices per site averaged 4.5 (range 0-10), feed and swaddle used at 47/49 (96%) sites, and child life specialists at 35/49 (71%). Average success rates were moderate (> 50-75%) across all sites and high (> 75-100%) for 20% of sites, varying with specific techniques. Commonest barriers to use were scheduling conflicts and limited knowledge. CONCLUSION: Non-sedate practice utilization in pediatric MRI was near-universal but widely variable across sites, ages, and locales, with room for broader adoption. Although on average non-sedate practice success rates were similar, the range in use and outcomes suggest a need for standardized implementation guidelines, including patient selection and outcome metrics, to optimize utilization and inform educational initiatives.
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Anestesia General , Imagen por Resonancia Magnética , Lactante , Niño , Humanos , Movimiento (Física) , Imagen por Resonancia Magnética/métodos , Encuestas y Cuestionarios , Examen FísicoRESUMEN
Background Clinically acquired brain MRI scans represent a valuable but underused resource for investigating neurodevelopment due to their technical heterogeneity and lack of appropriate controls. These barriers have curtailed retrospective studies of clinical brain MRI scans compared with more costly prospectively acquired research-quality brain MRI scans. Purpose To provide a benchmark for neuroanatomic variability in clinically acquired brain MRI scans with limited imaging pathology (SLIPs) and to evaluate if growth charts from curated clinical MRI scans differed from research-quality MRI scans or were influenced by clinical indication for the scan. Materials and Methods In this secondary analysis of preexisting data, clinical brain MRI SLIPs from an urban pediatric health care system (individuals aged ≤22 years) were scanned across nine 3.0-T MRI scanners. The curation process included manual review of signed radiology reports and automated and manual quality review of images without gross pathology. Global and regional volumetric imaging phenotypes were measured using two image segmentation pipelines, and clinical brain growth charts were quantitatively compared with charts derived from a large set of research controls in the same age range by means of Pearson correlation and age at peak volume. Results The curated clinical data set included 532 patients (277 male; median age, 10 years [IQR, 5-14 years]; age range, 28 days after birth to 22 years) scanned between 2005 and 2020. Clinical brain growth charts were highly correlated with growth charts derived from research data sets (22 studies, 8346 individuals [4947 male]; age range, 152 days after birth to 22 years) in terms of normative developmental trajectories predicted by the models (median r = 0.979). Conclusion The clinical indication of the scans did not significantly bias the output of clinical brain charts. Brain growth charts derived from clinical controls with limited imaging pathology were highly correlated with brain charts from research controls, suggesting the potential of curated clinical MRI scans to supplement research data sets. © RSNA, 2023 Supplemental material is available for this article. See also the editorial by Ertl-Wagner and Pai in this issue.
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Encéfalo , Gráficos de Crecimiento , Humanos , Masculino , Niño , Recién Nacido , Estudios Retrospectivos , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Imagen por Resonancia Magnética/métodos , CabezaRESUMEN
Pediatric stroke encompasses different causes, clinical presentations, and associated conditions across ages. Although it is relatively uncommon, pediatric stroke presents with poor short- and long-term outcomes in many cases. Because of a wide range of overlapping presenting symptoms between pediatric stroke and other more common conditions, such as migraine and seizures, stroke diagnosis can be challenging or delayed in children. When combined with a comprehensive medical history and physical examination, neuroimaging plays a crucial role in diagnosing stroke and differentiating stroke mimics. This review highlights the current neuroimaging workup for diagnosing pediatric stroke in the emergency department, describes advantages and disadvantages of different imaging modalities, highlights disorders that predispose children to infarct or hemorrhage, and presents an overview of stroke mimics. Key differences in the initial approach to suspected stroke between children and adults are also discussed.
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Trastornos Migrañosos , Radiología , Accidente Cerebrovascular , Adulto , Niño , Humanos , Diagnóstico Diferencial , Accidente Cerebrovascular/etiología , Convulsiones , Trastornos Migrañosos/complicaciones , Trastornos Migrañosos/diagnóstico , Servicio de Urgencia en HospitalRESUMEN
Neuroimaging protocols play an important role in the timely evaluation and treatment of pediatric stroke and its mimics. MRI protocols for stroke in the pediatric population should be guided by the clinical scenario and neurologic examination, with consideration of age, suspected infarct type and underlying risk factors. Acute stroke diagnosis and causes in pediatric age groups can differ significantly from those in adult populations, and delay in stroke diagnosis among children is a common problem. An awareness of pediatric stroke presentations and risk factors among pediatric emergency physicians, neurologists, pediatricians, subspecialists and radiologists is critical to ensuring timely diagnosis. Given special considerations related to unique pediatric stroke risk factors and the need for sedation in some children, expert consensus guidelines for the imaging of suspected pediatric infarct have been proposed. In this article the authors review standard and rapid MRI protocols for the diagnosis of pediatric stroke, as well as the key differences between pediatric and adult stroke imaging.
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Accidente Cerebrovascular , Niño , Humanos , Accidente Cerebrovascular/diagnóstico por imagen , Imagen por Resonancia Magnética , Neuroimagen/métodos , Tomografía Computarizada por Rayos X , InfartoRESUMEN
Chest radiography is the modality of choice for the identification of rib fractures in young children and there is value for the development of computer-aided rib fracture detection in this age group. However, the automated identification of rib fractures on chest radiographs can be challenging due to the need for high spatial resolution in deep learning frameworks. A patch-based deep learning algorithm was developed to automatically detect rib fractures on frontal chest radiographs in children under 2 years old. A total of 845 chest radiographs of children 0-2 years old (median: 4 months old) were manually segmented for rib fractures by radiologists and served as the ground-truth labels. Image analysis utilized a patch-based sliding-window technique, to meet the high-resolution requirements for fracture detection. Standard transfer learning techniques used ResNet-50 and ResNet-18 architectures. Area-under-curve for precision-recall (AUC-PR) and receiver-operating-characteristic (AUC-ROC), along with patch and whole-image classification metrics, were reported. On the test patches, the ResNet-50 model showed AUC-PR and AUC-ROC of 0.25 and 0.77, respectively, and the ResNet-18 showed an AUC-PR of 0.32 and AUC-ROC of 0.76. On the whole-radiograph level, the ResNet-50 had an AUC-ROC of 0.74 with 88% sensitivity and 43% specificity in identifying rib fractures, and the ResNet-18 had an AUC-ROC of 0.75 with 75% sensitivity and 60% specificity in identifying rib fractures. This work demonstrates the utility of patch-based analysis for detection of rib fractures in children under 2 years old. Future work with large cohorts of multi-institutional data will improve the generalizability of these findings to patients with suspicion of child abuse.
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Aprendizaje Profundo , Fracturas de las Costillas , Humanos , Niño , Lactante , Preescolar , Recién Nacido , Fracturas de las Costillas/diagnóstico por imagen , Estudios Retrospectivos , Radiografía , Curva ROCRESUMEN
Measurement of angles on foot radiographs is an important step in the evaluation of malalignment. The objective is to develop a CNN model to measure angles on radiographs, using radiologists' measurements as the reference standard. This IRB-approved retrospective study included 450 radiographs from 216 patients (< 3 years of age). Angles were automatically measured by means of image segmentation followed by angle calculation, according to Simon's approach for measuring pediatric foot angles. A multiclass U-Net model with a ResNet-34 backbone was used for segmentation. Two pediatric radiologists independently measured anteroposterior and lateral talocalcaneal and talo-1st metatarsal angles using the test dataset and recorded the time used for each study. Intraclass correlation coefficients (ICC) were used to compare angle and paired Wilcoxon signed-rank test to compare time between radiologists and the CNN model. There was high spatial overlap between manual and CNN-based automatic segmentations with dice coefficients ranging between 0.81 (lateral 1st metatarsal) and 0.94 (lateral calcaneus). Agreement was higher for angles on the lateral view when compared to the AP view, between radiologists (ICC: 0.93-0.95, 0.85-0.92, respectively) and between radiologists' mean and CNN calculated (ICC: 0.71-0.73, 0.41-0.52, respectively). Automated angle calculation was significantly faster when compared to radiologists' manual measurements (3 ± 2 vs 114 ± 24 s, respectively; P < 0.001). A CNN model can selectively segment immature ossification centers and automatically calculate angles with a high spatial overlap and moderate to substantial agreement when compared to manual methods, and 39 times faster.
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Pie , Huesos Metatarsianos , Humanos , Niño , Preescolar , Estudios Retrospectivos , Estudios de Factibilidad , Pie/diagnóstico por imagen , Huesos Metatarsianos/diagnóstico por imagen , Redes Neurales de la ComputaciónRESUMEN
Background A framework for understanding rapid diffusion changes from 0 to 6 years of age is important in the detection of neurodevelopmental disorders. Purpose To quantify patterns of normal apparent diffusion coefficient (ADC) development from 0 to 6 years of age. Materials and Methods Previously constructed age-specific ADC atlases from 201 healthy full-term children (108 male; age range, 0-6 years) with MRI scans acquired from 2006 to 2013 at one large academic hospital were analyzed to quantify four patterns: ADC trajectory, rate of ADC change, age of ADC maturation, and hemispheric asymmetries of maturation ages. Patterns were quantified in whole-brain, segmented regional, and voxelwise levels by fitting a two-term exponential model. Hemispheric asymmetries in ADC maturation ages were assessed using t tests with Bonferroni correction. Results The posterior limb of the internal capsule (mean ADC: left hemisphere, 1.18 ×103µm2/sec; right hemisphere, 1.17 ×103µm2/sec), anterior limb of the internal capsule (left, 1.11 ×103µm2/sec; right, 1.09 ×103µm2/sec), vermis (1.26 ×103µm2/sec), thalami (left, 1.17 ×103µm2/sec; right, 1.15 ×103µm2/sec), and basal ganglia (left, 1.26 ×103µm2/sec; right, 1.23 ×103µm2/sec) demonstrate low initial ADC values, indicating an earlier prenatal time course of development. ADC maturation was completed between 1.3 and 2.4 years of age, depending on the region. The vermis and left thalamus matured earliest (1.3 years). The frontolateral gray matter matured latest (right, 2.3 years; left, 2.4 years). ADC maturation occurred earlier in the left hemisphere (P < .001) in several regions, including the frontal (mean ± standard deviation) (left, 2.16 years ± 0.29; right, 2.19 years ± 0.31), temporal (left, 1.93 years ± 0.22; right, 1.99 years ± 0.22), and parietal (left, 1.92 years ± 0.30; right, 2.03 years ± 0.28) white matter. Maturation occurred earlier in the right hemisphere (P < .001) in several regions, including the thalami (left, 1.63 years ± 0.32; right, 1.45 years ± 0.33), basal ganglia (left, 1.79 years ± 0.31; right, 1.70 years ± 0.37), and hippocampi (left, 1.93 years ± 0.34; right, 1.78 years ± 0.33). Conclusion Normative apparent diffusion coefficient developmental patterns on diffusion-weighted MRI scans were quantified in children aged 0 to 6 years. This work provides knowledge about early brain development and may guide the detection of abnormal patterns of maturation. © RSNA, 2020 Online supplemental material is available for this article. See also the editorial by Rollins in this issue.
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Encéfalo/anatomía & histología , Imagen por Resonancia Magnética/métodos , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , MasculinoRESUMEN
OBJECTIVE: To demonstrate that a novel noninvasive index of intracranial pressure (ICP) derived from diffuse optics-based techniques is associated with intracranial hypertension. STUDY DESIGN: We compared noninvasive and invasive ICP measurements in infants with hydrocephalus. Infants born term and preterm were eligible for inclusion if clinically determined to require cerebrospinal fluid (CSF) diversion. Ventricular size was assessed preoperatively via ultrasound measurement of the fronto-occipital (FOR) and frontotemporal (FTHR) horn ratios. Invasive ICP was obtained at the time of surgical intervention with a manometer. Intracranial hypertension was defined as invasive ICP ≥15 mmHg. Diffuse optical measurements of cerebral perfusion, oxygen extraction, and noninvasive ICP were performed preoperatively, intraoperatively, and postoperatively. Optical and ultrasound measures were compared with invasive ICP measurements, and their change in values after CSF diversion were obtained. RESULTS: We included 39 infants, 23 with intracranial hypertension. No group difference in ventricular size was found by FOR (P = .93) or FTHR (P = .76). Infants with intracranial hypertension had significantly higher noninvasive ICP (P = .02) and oxygen extraction fraction (OEF) (P = .01) compared with infants without intracranial hypertension. Increased cerebral blood flow (P = .005) and improved OEF (P < .001) after CSF diversion were observed only in infants with intracranial hypertension. CONCLUSIONS: Noninvasive diffuse optical measures (including a noninvasive ICP index) were associated with intracranial hypertension. The findings suggest that impaired perfusion from intracranial hypertension was independent of ventricular size. Hemodynamic evidence of the benefits of CSF diversion was seen in infants with intracranial hypertension. Noninvasive optical techniques hold promise for aiding the assessment of CSF diversion timing.
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Circulación Cerebrovascular/fisiología , Hidrocefalia/diagnóstico por imagen , Hidrocefalia/fisiopatología , Hipertensión Intracraneal/diagnóstico , Derivaciones del Líquido Cefalorraquídeo , Estudios de Factibilidad , Femenino , Humanos , Hidrocefalia/cirugía , Recién Nacido , Hipertensión Intracraneal/etiología , Hipertensión Intracraneal/fisiopatología , Presión Intracraneal/fisiología , Masculino , Imagen Óptica , Proyectos Piloto , Reproducibilidad de los Resultados , Análisis EspectralRESUMEN
Establishing a magnetic resonance (MR) safety program is crucial to ensuring the safe MR imaging of pediatric patients. The organizational structure includes a core safety council and broader safety committee comprising all key stakeholders. These groups work in synchrony to establish a strong culture of safety; create and maintain policies and procedures; implement device regulations for entry into the MR setting; construct MR safety zones; address intraoperative MR concerns; guarantee safe scanning parameters, including complying with specific absorption rate limitations; adhere to national regulatory body guidelines; and ensure appropriate communication among all parties in the MR environment. Perspectives on the duties of the safety council members provide important insight into the organization of program oversite. Ultimately, the collective dedication and vigilance of all MR staff are crucial to the success of a safety program.
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Comunicación , Imagen por Resonancia Magnética , Niño , Humanos , Espectroscopía de Resonancia MagnéticaRESUMEN
Brain pathology is an important cause of morbidity and mortality in neonates, especially in the premature population. While conventional two-dimensional neurosonography is traditionally used for screening, diagnosis and monitoring of brain disorders such as germinal matrix hemorrhage, periventricular leukomalacia and hydrocephalus, three-dimensional ultrasonography has gained popularity in a variety of clinical applications in recent years. Three-dimensional ultrasonography is not yet widely utilized in pediatric imaging but is a potentially powerful tool for evaluating the neonatal brain. Three-dimensional neurosonography allows imaging of the entire brain in a single volumetric sweep and offers the capability of reconstructing images in the axial plane and performing volumetric analyses that are unavailable in conventional two-dimensional neurosonography. The purpose of this article is two-fold: (1) to present the technical aspects of three-dimensional neurosonography and (2) to illustrate the potential applications of three-dimensional neurosonography in the context of commonly encountered neonatal neuropathology.
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Encefalopatías/diagnóstico por imagen , Imagenología Tridimensional/métodos , Ultrasonografía/métodos , Encéfalo/diagnóstico por imagen , Encefalopatías/congénito , Humanos , Recién Nacido , Recien Nacido PrematuroRESUMEN
Callosal agenesis is a complex condition with disruption in the steps such as cellular proliferation, migration, axonal growth, guidance, or glial patterning at the midline. Agenesis of the corpus callosum (AgCC) is associated with diverse midline craniofacial malformations affecting the frontal-cranial and midface skeleton. Diagnosing midline abnormalities prenatally can be challenging, especially in twin pregnancies, due to poor resolution of skull base structures on fetal MRI, basal cephalocele could be mistaken for fluid in the nasopharynx, motion limitation, and fetal positioning. Our case highlights the importance of evaluation for other associated midline anomalies when there is callosal agenesis.
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Several radiology artificial intelligence (AI) courses are offered by a variety of institutions and educators. The major radiology societies have developed AI curricula focused on basic AI principles and practices. However, a specific AI curriculum focused on pediatric radiology is needed to offer targeted education material on AI model development and performance evaluation. There are inherent differences between pediatric and adult practice patterns, which may hinder the application of adult AI models in pediatric cohorts. Such differences include the different imaging modality utilization, imaging acquisition parameters, lower radiation doses, the rapid growth of children and changes in their body composition, and the presence of unique pathologies and diseases, which differ in prevalence from adults. Thus, to enhance radiologists' knowledge of the applications of AI models in pediatric patients, curricula should be structured keeping in mind the unique pediatric setting and its challenges, along with methods to overcome these challenges, and pediatric-specific data governance and ethical considerations. In this report, the authors highlight the salient aspects of pediatric radiology that are necessary for AI education in the pediatric setting, including the challenges for research investigation and clinical implementation.
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Inteligencia Artificial , Radiología , Adulto , Humanos , Niño , Radiología/educación , Radiólogos , Escolaridad , CurriculumRESUMEN
RATIONALE AND OBJECTIVES: Artificial intelligence (AI) holds enormous potential for improvements in patient care, efficiency, and innovation in pediatric radiology practice. Although there is a pressing need for a radiology-specific training curriculum and formalized AI teaching, few resources are available. The purpose of our study was to perform a needs assessment for the development of an AI curriculum during pediatric radiology training and continuing education. MATERIALS AND METHODS: A focus group study using a semistructured moderator-guided interview was conducted with radiology trainees' and attending radiologists' perceptions of AI, perceived competence in interpretation of AI literature, and perceived expectations from radiology AI educational programs. The focus group was audio-recorded, transcribed, and thematic analysis was performed. RESULTS: The focus group was held virtually with seven participants. The following themes we identified: (1) AI knowledge, (2) previous training, (3) learning preferences, (4) AI expectations, and (5) AI concerns. The participants had no previous formal training in AI and variability in perceived needs and interests. Most preferred a case-based approach to teaching AI. They expressed incomplete understanding of AI hindered its clinical applicability and reiterated a need for improved training in the interpretation and application of AI literature in their practice. CONCLUSION: We found heterogeneity in perspectives about AI; thus, a curriculum must account for the wide range of these interests and needs. Teaching the interpretation of AI research methods, literature critique, and quality control through implementation of specific scenarios could engage a variety of trainees from different backgrounds and interest levels while ensuring a baseline level of competency in AI.
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Inteligencia Artificial , Radiología , Niño , Humanos , Evaluación de Necesidades , Becas , Radiología/educación , CurriculumRESUMEN
OBJECTIVE: In this proof-of-concept study, we aimed to develop deep-learning-based classifiers to identify rib fractures on frontal chest radiographs in children under 2 years of age. METHODS: This retrospective study included 1311 frontal chest radiographs (radiographs with rib fractures, n = 653) from 1231 unique patients (median age: 4 m). Patients with more than one radiograph were included only in the training set. A binary classification was performed to identify the presence or absence of rib fractures using transfer learning and Resnet-50 and DenseNet-121 architectures. The area under the receiver operating characteristic curve (AUC-ROC) was reported. Gradient-weighted class activation mapping was used to highlight the region most relevant to the deep learning models' predictions. RESULTS: On the validation set, the ResNet-50 and DenseNet-121 models obtained an AUC-ROC of 0.89 and 0.88, respectively. On the test set, the ResNet-50 model demonstrated an AUC-ROC of 0.84 with a sensitivity of 81% and specificity of 70%. The DenseNet-50 model obtained an AUC of 0.82 with 72% sensitivity and 79% specificity. CONCLUSION: In this proof-of-concept study, a deep learning-based approach enabled the automatic detection of rib fractures in chest radiographs of young children with performances comparable to pediatric radiologists. Further evaluation of this approach on large multi-institutional data sets is needed to assess the generalizability of our results. ADVANCES IN KNOWLEDGE: In this proof-of-concept study, a deep learning-based approach performed well in identifying chest radiographs with rib fractures. These findings provide further impetus to develop deep learning algorithms for identifying rib fractures in children, especially those with suspected physical abuse or non-accidental trauma.
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Aprendizaje Profundo , Fracturas de las Costillas , Humanos , Niño , Lactante , Preescolar , Fracturas de las Costillas/diagnóstico por imagen , Estudios Retrospectivos , Radiografía , Curva ROCRESUMEN
Hypoxic ischemic encephalopathy (HIE) is a brain injury that occurs in 1 ~ 5/1000 term neonates. Accurate identification and segmentation of HIE-related lesions in neonatal brain magnetic resonance images (MRIs) is the first step toward predicting prognosis, identifying high-risk patients, and evaluating treatment effects. It will lead to a more accurate estimation of prognosis, a better understanding of neurological symptoms, and a timely prediction of response to therapy. We release the first public dataset containing neonatal brain diffusion MRI and expert annotation of lesions from 133 patients diagnosed with HIE. HIE-related lesions in brain MRI are often diffuse (i.e., multi-focal), and small (over half the patients in our data having lesions occupying <1% of brain volume). Segmentation for HIE MRI data is remarkably different from, and arguably more challenging than, other segmentation tasks such as brain tumors with focal and relatively large lesions. We hope that this dataset can help fuel the development of MRI lesion segmentation methods for HIE and small diffuse lesions in general.
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In this white paper, the ACR Pediatric AI Workgroup of the Commission on Informatics educates the radiology community about the health equity issue of the lack of pediatric artificial intelligence (AI), improves the understanding of relevant pediatric AI issues, and offers solutions to address the inadequacies in pediatric AI development. In short, the design, training, validation, and safe implementation of AI in children require careful and specific approaches that can be distinct from those used for adults. On the eve of widespread use of AI in imaging practice, the group invites the radiology community to align and join Image IntelliGently (www.imageintelligently.org) to ensure that the use of AI is safe, reliable, and effective for children.
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Inteligencia Artificial , Radiología , Adulto , Humanos , Niño , Sociedades Médicas , Radiología/métodos , Radiografía , Diagnóstico por Imagen/métodosRESUMEN
Importance: Autism spectrum disorder (ASD) is associated with significant clinical, neuroanatomical, and genetic heterogeneity that limits precision diagnostics and treatment. Objective: To assess distinct neuroanatomical dimensions of ASD using novel semisupervised machine learning methods and to test whether the dimensions can serve as endophenotypes also in non-ASD populations. Design, Setting, and Participants: This cross-sectional study used imaging data from the publicly available Autism Brain Imaging Data Exchange (ABIDE) repositories as the discovery cohort. The ABIDE sample included individuals diagnosed with ASD aged between 16 and 64 years and age- and sex-match typically developing individuals. Validation cohorts included individuals with schizophrenia from the Psychosis Heterogeneity Evaluated via Dimensional Neuroimaging (PHENOM) consortium and individuals from the UK Biobank to represent the general population. The multisite discovery cohort included 16 internationally distributed imaging sites. Analyses were performed between March 2021 and March 2022. Main Outcomes and Measures: The trained semisupervised heterogeneity through discriminative analysis models were tested for reproducibility using extensive cross-validations. It was then applied to individuals from the PHENOM and the UK Biobank. It was hypothesized that neuroanatomical dimensions of ASD would display distinct clinical and genetic profiles and would be prominent also in non-ASD populations. Results: Heterogeneity through discriminative analysis models trained on T1-weighted brain magnetic resonance images of 307 individuals with ASD (mean [SD] age, 25.4 [9.8] years; 273 [88.9%] male) and 362 typically developing control individuals (mean [SD] age, 25.8 [8.9] years; 309 [85.4%] male) revealed that a 3-dimensional scheme was optimal to capture the ASD neuroanatomy. The first dimension (A1: aginglike) was associated with smaller brain volume, lower cognitive function, and aging-related genetic variants (FOXO3; Z = 4.65; P = 1.62 × 10-6). The second dimension (A2: schizophrenialike) was characterized by enlarged subcortical volumes, antipsychotic medication use (Cohen d = 0.65; false discovery rate-adjusted P = .048), partially overlapping genetic, neuroanatomical characteristics to schizophrenia (n = 307), and significant genetic heritability estimates in the general population (n = 14â¯786; mean [SD] h2, 0.71 [0.04]; P < 1 × 10-4). The third dimension (A3: typical ASD) was distinguished by enlarged cortical volumes, high nonverbal cognitive performance, and biological pathways implicating brain development and abnormal apoptosis (mean [SD] ß, 0.83 [0.02]; P = 4.22 × 10-6). Conclusions and Relevance: This cross-sectional study discovered 3-dimensional endophenotypic representation that may elucidate the heterogeneous neurobiological underpinnings of ASD to support precision diagnostics. The significant correspondence between A2 and schizophrenia indicates a possibility of identifying common biological mechanisms across the 2 mental health diagnoses.