ABSTRACT
BACKGROUND: Childhood Sjögren's disease is a rare, underdiagnosed, and poorly-understood condition. By integrating machine learning models on a paediatric cohort in the USA, we aimed to develop a novel system (the Florida Scoring System) for stratifying symptomatic paediatric patients with suspected Sjögren's disease. METHODS: This cross-sectional study was done in symptomatic patients who visited the Department of Pediatric Rheumatology at the University of Florida, FL, USA. Eligible patients were younger than 18 years or had symptom onset before 18 years of age. Patients with confirmed diagnosis of another autoimmune condition or infection with a clear aetiological microorganism were excluded. Eligible patients underwent comprehensive examinations to rule out or diagnose childhood Sjögren's disease. We used latent class analysis with clinical and laboratory variables to detect heterogeneous patient classes. Machine learning models, including random forest, gradient-boosted decision tree, partial least square discriminatory analysis, least absolute shrinkage and selection operator-penalised ordinal regression, artificial neural network, and super learner were used to predict patient classes and rank the importance of variables. Causal graph learning selected key features to build the final Florida Scoring System. The predictors for all models were the clinical and laboratory variables and the outcome was the definition of patient classes. FINDINGS: Between Jan 16, 2018, and April 28, 2022, we screened 448 patients for inclusion. After excluding 205 patients due to symptom onset later than 18 years of age, we recruited 243 patients into our cohort. 26 patients were excluded because of confirmed diagnosis of a disorder other than Sjögren's disease, and 217 patients were included in the final analysis. Median age at diagnosis was 15 years (IQR 11-17). 155 (72%) of 216 patients were female and 61 (28%) were male, 167 (79%) of 212 were White, and 20 (9%) of 213 were Hispanic, Latino, or Spanish. The latent class analysis identified three distinct patient classes: class I (dryness dominant with positive tests, n=27), class II (high symptoms with negative tests, n=98), and class III (low symptoms with negative tests, n=92). Machine learning models accurately predicted patient class and ranked variable importance consistently. The causal graphical model discovered key features for constructing the Florida Scoring System. INTERPRETATION: The Florida Scoring System is a paediatrician-friendly tool that can be used to assist classification and long-term monitoring of suspected childhood Sjögren's disease. The resulting stratification has important implications for clinical management, trial design, and pathobiological research. We found a highly symptomatic patient group with negative serology and diagnostic profiles, which warrants clinical attention. We further revealed that salivary gland ultrasonography can be a non-invasive alternative to minor salivary gland biopsy in children. The Florida Scoring System requires validation in larger prospective paediatric cohorts. FUNDING: National Institute of Dental and Craniofacial Research, National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Heart, Lung, and Blood Institute, and Sjögren's Foundation.
Subject(s)
Machine Learning , Sjogren's Syndrome , Humans , Cross-Sectional Studies , Child , Female , Male , Adolescent , Sjogren's Syndrome/diagnosis , Severity of Illness Index , Florida/epidemiologyABSTRACT
PURPOSE: Pediatric patients with autonomic dysfunction and orthostatic intolerance (OI) often present with co-existing symptoms and signs that might or might not directly relate to the autonomic nervous system. Our objective was to identify validated screening instruments to characterize these comorbidities and their impact on youth functioning. METHODS: The Pediatric Assembly of the American Autonomic Society reviewed the current state of practice for identifying symptom comorbidities in youth with OI. The assembly includes physicians, physician-scientists, scientists, advanced practice providers, psychologists, and a statistician with expertise in pediatric disorders of OI. A total of 26 representatives from the various specialties engaged in iterative meetings to: (1) identify and then develop consensus on the symptoms to be assessed, (2) establish committees to review the literature for screening measures by member expertise, and (3) delineate the specific criteria for systematically evaluating the measures and for making measure recommendations by symptom domains. RESULTS: We review the measures evaluated and recommend one measure per system/concern so that assessment results from unrelated clinical centers are comparable. We have created a repository to apprise investigators of validated, vetted assessment tools to enhance comparisons across cohorts of youth with autonomic dysfunction and OI. CONCLUSION: This effort can facilitate collaboration among clinical settings to advance the science and clinical treatment of these youth. This effort is essential to improving management of these vulnerable patients as well as to comparing research findings from different centers.
Subject(s)
Autonomic Nervous System Diseases , Orthostatic Intolerance , Adolescent , Humans , Child , Autonomic Nervous System Diseases/diagnosis , Autonomic Nervous System Diseases/epidemiology , Orthostatic Intolerance/diagnosis , Autonomic Nervous SystemABSTRACT
PURPOSE: Whether evaluating patients clinically, documenting care in the electronic health record, performing research, or communicating with administrative agencies, the use of a common set of terms and definitions is vital to ensure appropriate use of language. At a 2017 meeting of the Pediatric Section of the American Autonomic Society, it was determined that an autonomic data dictionary comprising aspects of evaluation and management of pediatric patients with autonomic disorders would be an important resource for multiple stakeholders. METHODS: Our group created the list of terms for the dictionary. Definitions were prioritized to be obtained from established sources with which to harmonize. Some definitions needed mild modification from original sources. The next tier of sources included published consensus statements, followed by Internet sources. In the absence of appropriate sources, we created a definition. RESULTS: A total of 589 terms were listed and defined in the dictionary. Terms were organized by Signs/Symptoms, Triggers, Co-morbid Disorders, Family History, Medications, Medical Devices, Physical Examination Findings, Testing, and Diagnoses. CONCLUSION: Creation of this data dictionary becomes the foundation of future clinical care and investigative research in pediatric autonomic disorders, and can be used as a building block for a subsequent adult autonomic data dictionary.
Subject(s)
Electronic Health Records , Humans , Child , ConsensusABSTRACT
Robert Wartenberg was a renowned 20th century neurologist who contributed greatly to our understanding of the neurological examination. This article aims to illustrate his legacy by highlighting five seminal neurological signs.
Subject(s)
Neurologic Examination/history , Neurologic Examination/methods , Neurology/history , Accessory Nerve , History, 20th Century , Humans , Palpation , Thumb/physiopathology , Vibration , Wrist/physiopathologyABSTRACT
ABSTRACT Robert Wartenberg was a renowned 20th century neurologist who contributed greatly to our understanding of the neurological examination. This article aims to illustrate his legacy by highlighting five seminal neurological signs.
RESUMO Robert Wartenberg foi um renomado neurologista do século XX que contribuíu enormemente para o entendimento do exame neurológico. Este artigo tem como objetivo principal ilustrar seu legado, ressaltando cinco sinais neurológicos seminais.
Subject(s)
Humans , History, 20th Century , Neurologic Examination/history , Neurologic Examination/methods , Neurology/history , Palpation , Thumb/physiopathology , Vibration , Wrist/physiopathology , Accessory NerveABSTRACT
Five children with brainstem tumors and two control patients had magnetic resonance spectroscopy studies of the brainstem. Two of the malignant tumor patients had magnetic resonance spectroscopy studies before and after radiation therapy. The third was irradiated 14 years earlier but developed new symptoms and a new brainstem lesion on MRI. Magnetic resonance spectroscopy demonstrated a different degree of malignancy between the old and new lesion. The fourth patient had magnetic resonance spectroscopy of a chronic, large pontine lesion 6 years after diagnosis and radiation. The spectral pattern suggested a low degree of malignancy. The fifth patient had neurofibromatosis type 1 with brainstem lesions. Magnetic resonance spectroscopy suggested neoplastic tissue of low malignancy. These results suggest that magnetic resonance spectroscopy offers additional information for anticipating the degree of anaplasia in children with brainstem tumors.
Subject(s)
Brain Stem Neoplasms/diagnosis , Magnetic Resonance Spectroscopy , Neurofibromatosis 1/diagnosis , Adolescent , Child , Child, Preschool , Female , Humans , Magnetic Resonance Spectroscopy/statistics & numerical data , MaleSubject(s)
Humans , Male , Female , Cumulative Trauma Disorders/etiology , Occupational Diseases/etiology , Music , Cumulative Trauma Disorders/epidemiology , Cumulative Trauma Disorders/therapy , Occupational Diseases/epidemiology , Occupational Diseases/therapy , Prevalence , Prognosis , Risk FactorsABSTRACT
Os músicos podem ser acometidos por afecçöes neurológicas de natureza ocupacional. O temor de palco é um distúrbio decorrente da descarga adrenérgica excessiva relacionada a apresentaçöes difícies e/ou importantes. O uso excessivo dos músculos ao tocar por períodos prolongados pode resultar em uma lesäo ultra-estrutural de resoluçäo demorada. A compressäo de nervos periféricos pode resultar do contato direto com os instrumentos musicais ou da posiçäo necessária para tocá-los. Mais raramente, os músicos säo acometidos por uma discinesia ocupacional, de origem obscura e tratamento difícil
Subject(s)
Occupational Diseases/etiology , Fear , Music , Tremor/etiology , Adrenergic beta-Antagonists/therapeutic use , Anxiety Disorders/drug therapy , Anxiety Disorders/etiology , Sympathetic Nervous System/physiology , Tremor/drug therapyABSTRACT
Os musicos podem ser acometidos por afeccoes neurologicas de natureza ocupacional. O temor de palco e um disturbio decorrente da descarga adrenergica excessiva relacionada a apresentacoes dificeis e/ou importantes. O uso excessivo dos musculos ao tocar por periodo prolongados pode resultar em uma lesao ultra-estrutural de resolucao demorada. A compreensao de nervos perifericos pode resultar do contato direto com os instrumentos musicais ou da posicao necessaria para toca-los. Mais raramente, os musicos sao acometidos por uma discinesia ocupacional, de origem obscura e tratamento dificil.
Subject(s)
Nervous System Diseases , Nervous System DiseasesABSTRACT
Os autores fazem detalhada revisäo da literatura acerca de aspectos históricos, etiopatogênicos, clínicos, diagnósticos e terapêuticos da siringomiella. Apresentam um caso desta enfermidade, cujo diagnóstico foi confirmado por ressonância magnética
