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BACKGROUND: Artificial intelligence (AI) is progressively influencing healthcare sectors, including pediatric neurology. This paper aims to investigate the potential and limitations of using ChatGPT, a large language model (LLM) developed by OpenAI, in an outpatient pediatric neurology clinic. The analysis focuses on the tool's capabilities in enhancing clinical efficiency, productivity, and patient education. METHOD: This is an opinion-based exploration supplemented with practical examples. We assessed ChatGPT's utility in administrative and educational tasks such as drafting medical necessity letters and creating patient educational materials. RESULTS: ChatGPT showed efficacy in streamlining administrative work, particularly in drafting administrative letters and formulating personalized patient education materials. However, the model has limitations in performing higher-order tasks like formulating nuanced differential diagnoses. Additionally, ethical and legal concerns, including data privacy and the potential dissemination of misinformation, warrant cautious implementation. CONCLUSIONS: The integration of AI tools like ChatGPT in pediatric neurology clinics has demonstrated promising results in boosting efficiency and patient education, despite present limitations and ethical concerns. As technology advances, we anticipate future applications may extend to more complex clinical tasks like precise differential diagnoses and treatment strategy guidance. Careful, patient-centered implementation is essential for leveraging the potential benefits of AI in pediatric neurology effectively.
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OBJECTIVE: There has been increasing utilization of genetic testing for pediatric epilepsy in recent years. Little systematic data is available examining how practice changes have impacted testing yields, diagnostic pace, incidence of variants of uncertain significance (VUSs), or therapeutic management. METHODS: A retrospective chart review was performed at Children's Hospital Colorado from February 2016 through February 2020. All patients under 18 years for whom an epilepsy gene panel was sent were included. RESULTS: A total of 761 epilepsy gene panels were sent over the study period. During the study period, there was a 292% increase in the average number of panels sent per month. The time from seizure onset to panel result decreased over the study period from a median of 2.9 years to 0.7 years. Despite the increase in testing, the percentage of panels yielding a disease-causing result remained stable at 11-13%. A total of 90 disease-causing results were identified, > 75% of which provided guidance in management. Children were more likely to have a disease-causing result if they were < 3 years old at seizure onset (OR 4.4, p < 0.001), had neurodevelopmental concerns (OR 2.2, p = 0.002), or had a developmentally abnormal MRI (OR 3.8, p < 0.001). A total of 1417 VUSs were identified, equating to 15.7 VUSs per disease-causing result. Non-Hispanic white patients had a lower average number of VUSs than patients of all other races/ethnicities (1.7 vs 2.1, p < 0.001). SIGNIFICANCE: Expansion in the volume of genetic testing corresponded to a decrease in the time from seizure onset to testing result. Diagnostic yield remained stable, resulting in an increase in the absolute number of disease-causing results annually-most of which have implications for management. However, there has also been an increase in total VUSs, which likely resulted in additional clinical time spent on VUS resolution.
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Epilepsia , Predisposición Genética a la Enfermedad , Humanos , Niño , Adolescente , Preescolar , Estudios Retrospectivos , Pruebas Genéticas/métodos , Epilepsia/diagnóstico , Epilepsia/genética , Epilepsia/terapia , Convulsiones/genéticaRESUMEN
OBJECTIVE: Previous studies examined the use of video-based diagnosis and the predictive value of videos for differentiation of epileptic seizures (ES) from paroxysmal nonepileptic events (PNEE) in the adult population. However, there are no such published studies strictly on the pediatric population. Using video-EEG diagnosis as a gold standard, we aimed to determine the diagnostic predictive value of videos of habitual events with or without additional clinical data in differentiating the PNEE from ES in children. METHODS: Consecutive admissions to our epilepsy monitoring unit between June 2020 and December 2020 were analyzed for events of interest. Four child neurologists blinded to the patient's diagnosis formulated a diagnostic impression based upon the review of the video alone and again after having access to basic clinical information, in addition to the video. Features of the video which helped to make a diagnosis were identified by the reviewers as a part of a survey. RESULTS: A total of 54 patients were included (ES n = 24, PNEE n = 30). Diagnostic accuracy was calculated for each reviewer and combined across all the ratings. Diagnostic accuracy by video alone was 74.5% (sensitivity 80.8%, specificity 66.7%). Providing reviewers with basic clinical information in addition to the videos significantly improved diagnostic accuracy compared to viewing the videos alone. Inter-rater reliability between four reviewers based on the video alone showed moderate agreement (κ = 0.51) and unchanged when additional clinical data were presented (κ = 0.51). The ES group was significantly more likely to demonstrate changes in facial expression, generalized stiffening, repetitive eye blinks, and eye deviation when compared with the PNEE group, which was more likely to display bilateral myoclonic jerking. CONCLUSIONS: Video review of habitual events by Child Neurologists may be helpful in reliably distinguishing ES from PNEE in children, even without included clinical information.
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Epilepsia , Adulto , Niño , Electroencefalografía , Humanos , Reproducibilidad de los Resultados , Convulsiones , Grabación en VideoRESUMEN
Although trials with anti-seizure medications (ASMs) have not shown clear anti-epileptogenic or disease-modifying activity in humans to date, rapid advancements in genomic technology and emerging gene-mediated and gene replacement options offer hope for the successful development of disease-modifying therapies (DMTs) for genetic epilepsies. In fact, more than 26 potential DMTs are in various stages of preclinical and/or clinical development for genetic syndromes associated with epilepsy. The scope of disease-modification includes but is not limited to effects on the underlying pathophysiology, the condition's natural history, epilepsy severity, developmental achievement, function, behavior, sleep, and quality of life. While conventional regulatory clinical trials for epilepsy therapeutics have historically focused on seizure reduction, similarly designed trials may prove ill-equipped to identify these broader disease-modifying benefits. As we look forward to this pipeline of DMTs, focused consideration should be given to the challenges they pose to conventional clinical trial designs for epilepsy therapeutics. Just as DMTs promise to fundamentally alter how we approach the care of patients with genetic epilepsy syndromes, DMTs likewise challenge how we traditionally construct and measure the success of clinical trials. In the following, we briefly review the historical and preclinical frameworks for DMT development for genetic epilepsies and explore the many novel challenges posed for such trials, including the choice of suitable outcome measures, trial structure, timing and duration of treatment, feasible follow-up period, varying safety profile, and ethical concerns.
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Anticonvulsivantes/uso terapéutico , Ensayos Clínicos como Asunto/métodos , Epilepsia/genética , Epilepsia/terapia , Terapia Genética/métodos , Genómica/métodos , HumanosRESUMEN
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder is a rare neurodevelopmental disorder characterized by infantile-onset refractory epilepsy, profound developmental delays, and cerebral visual impairment. Although there is evidence that the presence of cerebral visual impairment in CDKL5 deficiency disorder is common, the potential impact of cerebral visual impairment severity on developmental attainment has not been explored directly. Focusing on a cohort of 46 children with CDKL5 deficiency disorder, examination features indicative of cerebral visual impairment were quantified and compared to developmental achievement. The derived cerebral visual impairment severity score was inversely correlated with developmental attainment, bolstering the supposition that cerebral visual impairment severity may provide a useful early biomarker of disease severity and prognosis. This study demonstrates the utility of a cerebral visual impairment score to better capture the range of cerebral visual impairment severity in the CDKL5 deficiency disorder population and further elucidates the interaction between cerebral visual impairment and developmental outcomes.
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Síndromes Epilépticos/complicaciones , Trastornos del Neurodesarrollo/etiología , Espasmos Infantiles/complicaciones , Trastornos de la Visión/etiología , Adolescente , Niño , Preescolar , Estudios de Cohortes , Estudios Transversales , Femenino , Humanos , MasculinoRESUMEN
BACKGROUND: Models of cocaine addiction emphasize the role of disrupted frontal circuitry supporting cognitive control processes. However, addiction-related alterations in functional interactions among brain regions, especially between the cerebral hemispheres, are rarely examined directly. Resting-state functional magnetic resonance imaging (fMRI) approaches, which reveal patterns of coherent spontaneous fluctuations in the fMRI signal, offer a means to quantify directly functional interactions between the hemispheres. We examined interhemispheric resting-state functional connectivity (RSFC) in cocaine dependence using a recently validated approach, voxel-mirrored homotopic connectivity. METHODS: We compared interhemispheric RSFC between 25 adults (aged 35.0 ± 8.8) meeting DSM-IV criteria for cocaine dependence within the past 12 months but currently abstaining (>2 weeks) from cocaine and 24 healthy comparisons (35.1 ± 7.5), group-matched on age, sex, education, and employment status. RESULTS: We observed reduced prefrontal interhemispheric RSFC in cocaine-dependent participants relative to control subjects. Further analyses demonstrated a striking cocaine-dependence-related reduction in interhemispheric RSFC among nodes of the dorsal attention network, comprising bilateral lateral frontal, medial premotor, and posterior parietal areas. Further, within the cocaine-dependent group, RSFC within the dorsal attention network was associated with self-reported attentional lapses. CONCLUSIONS: Our findings provide further evidence of an association between chronic exposure to cocaine and disruptions within large-scale brain circuitry supporting cognitive control. We did not detect group differences in diffusion tensor imaging measures, suggesting that alterations in the brain's functional architecture associated with cocaine exposure can be observed in the absence of detectable abnormalities in the white matter microstructure supporting that architecture.
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Mapeo Encefálico , Encéfalo/fisiopatología , Trastornos Relacionados con Cocaína/patología , Lateralidad Funcional/fisiología , Descanso/fisiología , Adulto , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/etiología , Encéfalo/metabolismo , Trastornos Relacionados con Cocaína/complicaciones , Imagen de Difusión Tensora/métodos , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Masculino , Vías Nerviosas/fisiopatología , Pruebas Neuropsicológicas , Estadística como AsuntoRESUMEN
Treatment of multilevel cervical myelopathy remains a challenge. We report on a large series of cervical myelopathy patients treated with instrumented open-door laminoplasty. We retrospectively examined the medical records of 104 patients who had undergone instrumented open-door laminoplasty (titanium plate) for cervical myelopathy (minimum follow-up, 24 months). All patients had been myelopathic, 57 (54.8%) had stenosis, 39 (37.5%) had spondylosis, 66 (63.5%) reported gait disturbance, 18 (17.3%) had handwriting changes, 33 (31.7%) complained of deterioration of dexterity, 56 (53.8%) had grasp weakness, 7 (6.7%) had bowel and bladder complaints, 27 (26.0%) had a positive Hoffmann sign, 10 (9.6%) had sustained clonus, and 10 (9.6%) had a positive Babinski sign. Mean preoperative-to-postoperative improvement in Nurick grade was 1.47. Complications included 4 nerve root injuries (3.8%), 1 of which (at C5) was permanent, and 1 transient neurologic deterioration (<1%), 1 incidental durotomy (<1%), and 5 wound infections (4.8%). Four patients required anterior revision for persistent symptoms. Open-door laminoplasty with miniplate instrumentation is an effective, safe method for preventing progression of myelopathy with multilevel involvement while alleviating the need for multilevel fusion.
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Vértebras Cervicales/cirugía , Descompresión Quirúrgica/métodos , Laminectomía/métodos , Enfermedades de la Médula Espinal/cirugía , Descompresión Quirúrgica/efectos adversos , Femenino , Humanos , Laminectomía/efectos adversos , Masculino , Persona de Mediana Edad , Cuello , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Compresión de la Médula Espinal/fisiopatología , Compresión de la Médula Espinal/cirugía , Enfermedades de la Médula Espinal/fisiopatología , Estenosis Espinal/fisiopatología , Estenosis Espinal/cirugía , Resultado del TratamientoRESUMEN
STUDY DESIGN: Case series from a single spine specialty clinic. OBJECTIVE: This study analyzed wound related or anaphylactic adverse events in patients re-exposed to rhBMP-2. SUMMARY OF BACKGROUND DATA: The use of recombinant bone morphogenetic protein (rhBMP-2) as a bone graft substitute is increasing. There is concern that re-exposing patients to rhBMP-2, might result in a hyper-inflammatory response causing wound problems or an allergic reaction. METHODS: Ninety-six patients who had at least 2 spine surgeries using rhBMP-2 (Infuse, Medtronic Sofamor Danek, Memphis, TN) were identified. Anteroposterior surgeries, surgeries for infection and trauma were excluded. Demographic and operative data were collected from review of medical records. Surgeries were classified into primary, revision same approach and revision different approach. Logistic regression was used to control for variables associated with increased risk of complications. RESULTS: During the first exposure there were 90 primary fusions and 6 revisions with 2 wound infections requiring debridements and 9 minor wound problems. During the second exposure there were 25 primary fusions, 50 same approach first revisions, 16 different approach first revisions, 1 same approach second revision and 4 different approach second revisions. There were 5 wound infections, 11 minor wound problems and no allergic reactions. There was no significant difference in the number of complications between the first and second surgeries or between patients who had a second primary surgery, a revision through the same approach or through a different approach. There were no wound problems or allergic reactions among twelve patients who had a third surgery with rhBMP-2. CONCLUSION: Multiple exposures to rhBMP-2, whether for a second primary surgery, revision through the same approach or revision through a different approach does not increase the risk of a wound infections/problems or result in clinically detectable allergic reactions.