ABSTRACT
BACKGROUND: Movement disorders in children and adolescents with dyskinetic cerebral palsy (CP) are commonly assessed from video recordings, however scoring is time-consuming and expert knowledge is required for an appropriate assessment. OBJECTIVE: To explore a machine learning approach for automated classification of amplitude and duration of distal leg dystonia and choreoathetosis within short video sequences. METHODS: Available videos of a heel-toe tapping task were preprocessed to optimize key point extraction using markerless motion analysis. Postprocessed key point data were passed to a time series classification ensemble algorithm to classify dystonia and choreoathetosis duration and amplitude classes (scores 0, 1, 2, 3, and 4), respectively. As ground truth clinical scoring of dystonia and choreoathetosis by the Dyskinesia Impairment Scale was used. Multiclass performance metrics as well as metrics for summarized scores: absence (score 0) and presence (score 1-4) were determined. RESULTS: Thirty-three participants were included: 29 with dyskinetic CP and 4 typically developing, age 14 years:6 months ± 5 years:15 months. The multiclass accuracy results for dystonia were 77% for duration and 68% for amplitude; for choreoathetosis 30% for duration and 38% for amplitude. The metrics for score 0 versus score 1 to 4 revealed an accuracy of 81% for dystonia duration, 77% for dystonia amplitude, 53% for choreoathetosis duration and amplitude. CONCLUSIONS: This methodology study yielded encouraging results in distinguishing between presence and absence of dystonia, but not for choreoathetosis. A larger dataset is required for models to accurately represent distinct classes/scores. This study presents a novel methodology of automated assessment of movement disorders solely from video data.
Subject(s)
Athetosis , Cerebral Palsy , Dystonia , Video Recording , Humans , Adolescent , Cerebral Palsy/physiopathology , Cerebral Palsy/complications , Cerebral Palsy/classification , Cerebral Palsy/diagnosis , Male , Female , Child , Dystonia/physiopathology , Dystonia/diagnosis , Dystonia/classification , Dystonia/etiology , Athetosis/physiopathology , Athetosis/diagnosis , Athetosis/etiology , Lower Extremity/physiopathology , Machine LearningABSTRACT
In general, involuntary movements after stroke are due to a disturbance in the unilateral cortico-basal ganglia loop and appear contralateral to stroke lesions. Crossed involuntary movements after unilateral stroke are very rare. We observed a case of crossed involuntary movements in the left upper limb and right lower limb after a right thalamic hemorrhage expanded to the right subthalamic nucleus. We considered a possible three-step theory as the basis of crossed choreoathetosis. This case informs our better understanding of the cortico-basal ganglia loop and involuntary movements after stroke.
Subject(s)
Athetosis/etiology , Chorea/etiology , Hemorrhagic Stroke/complications , Movement , Thalamus/blood supply , Aged, 80 and over , Athetosis/diagnosis , Athetosis/physiopathology , Chorea/diagnosis , Chorea/physiopathology , Hemorrhagic Stroke/diagnostic imaging , Humans , MaleABSTRACT
A 7-month-old-term male infant presented with cough, tachypnoea, hypoxaemia and post-tussive emesis. Clinical history was significant for respiratory failure and pulmonary hypertension in the neonatal period requiring assisted ventilation, congenital hypothyroidism, mild hypotonia, recurrent respiratory infections, hypoxaemia requiring supplemental oxygen and nasogastric tube feeds. Physical examination showed tachypnoea, coarse bilateral breath sounds and mild hypotonia. Chest radiograph revealed multifocal pulmonary opacities with coarse interstitial markings and right upper lobe atelectasis. Following antibiotic therapy for suspected aspiration pneumonia, chest CT scan was performed and showed multiple areas of pulmonary consolidation and scattered areas of bilateral ground-glass opacities. Genetic studies showed a large deletion of chromosome 14q13.1-14q21.1, encompassing the NK2 homeobox 1 (NKX2-1) gene consistent with a diagnosis of brain-thyroid-lung (BTL) syndrome. Our case highlights the importance of genetic studies to diagnose BTL syndrome in infants with hypothyroidism, hypotonia and lung disease.
Subject(s)
Athetosis/diagnosis , Chorea/diagnosis , Chromosome Deletion , Chromosomes, Human, Pair 14/genetics , Congenital Hypothyroidism/diagnosis , Hypoxia/genetics , Muscle Hypotonia/genetics , Respiratory Distress Syndrome, Newborn/diagnosis , Amoxicillin-Potassium Clavulanate Combination/administration & dosage , Athetosis/complications , Athetosis/genetics , Athetosis/therapy , Chorea/complications , Chorea/genetics , Chorea/therapy , Congenital Hypothyroidism/complications , Congenital Hypothyroidism/genetics , Congenital Hypothyroidism/therapy , Enteral Nutrition , Fluid Therapy , Genetic Testing , Humans , Hypoxia/diagnosis , Hypoxia/therapy , Infant , Intubation, Gastrointestinal , Lung/diagnostic imaging , Male , Muscle Hypotonia/diagnosis , Muscle Hypotonia/therapy , Oxygen/administration & dosage , Respiratory Distress Syndrome, Newborn/complications , Respiratory Distress Syndrome, Newborn/genetics , Respiratory Distress Syndrome, Newborn/therapy , Thyroid Nuclear Factor 1/genetics , Tomography, X-Ray ComputedSubject(s)
Athetosis , Chorea , Hyper-IgM Immunodeficiency Syndrome , Adolescent , Athetosis/diagnosis , Athetosis/etiology , Athetosis/therapy , CD40 Ligand/deficiency , Chorea/diagnosis , Chorea/etiology , Chorea/therapy , Deep Brain Stimulation , Globus Pallidus , Humans , Hyper-IgM Immunodeficiency Syndrome/complications , Hyper-IgM Immunodeficiency Syndrome/diagnosis , Hyper-IgM Immunodeficiency Syndrome/therapy , Magnetic Resonance Imaging , MaleABSTRACT
RATIONALE: Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. Surfactant protein C (SFTPC) gene mutations result in chronic interstitial lung disease in adults or severe neonatal respiratory distress syndrome. PATIENT CONCERNS: Recurrent hypoxemia was observed shortly after birth in a baby at a gestational age of 40 weeks and birth weight of 3150âg. The need for respiratory support gradually increased. He had hypothyroidism and experienced feeding difficulties and irritability. DIAGNOSIS: Genetic examination of the peripheral blood revealed combined mutations of the NKX2-1 and SFTPC genes. INTERVENTIONS: The patient was administered respiratory support, antibiotics, low-dose dexamethasone, supplementary thyroxine, venous nutrition, and other supportive measures. OUTCOMES: The patient's guardian stopped treatment 3 months after commencement of treatment, due to the seriousness of his condition and the patient died. LESSONS: Combined mutations of NKX2-1 and SFTPC genes are very rare. Thus, idiopathic interstitial pneumonia with hypothyroidism and neurological disorders require special attention.
Subject(s)
Athetosis/genetics , Chorea/genetics , Congenital Hypothyroidism/genetics , Protein C/metabolism , Pulmonary Surfactants/metabolism , Respiratory Distress Syndrome, Newborn/genetics , Thyroid Nuclear Factor 1/genetics , Athetosis/blood , Athetosis/diagnosis , Athetosis/therapy , Chorea/blood , Chorea/diagnosis , Chorea/therapy , Congenital Hypothyroidism/blood , Congenital Hypothyroidism/diagnosis , Congenital Hypothyroidism/therapy , Fatal Outcome , Feeding and Eating Disorders/diagnosis , Feeding and Eating Disorders/etiology , Humans , Hypothyroidism/diagnosis , Hypothyroidism/etiology , Hypoxia/diagnosis , Hypoxia/etiology , Infant, Newborn , Karyotyping , Lung Diseases, Interstitial/diagnosis , Lung Diseases, Interstitial/etiology , Male , Mutation , Palliative Care/methods , Recurrence , Respiratory Distress Syndrome, Newborn/blood , Respiratory Distress Syndrome, Newborn/diagnosis , Respiratory Distress Syndrome, Newborn/etiology , Respiratory Distress Syndrome, Newborn/therapySubject(s)
Athetosis/diagnosis , Cerebellar Ataxia/diagnosis , Chorea/diagnosis , Seizures/diagnosis , Adult , Athetosis/complications , Athetosis/diagnostic imaging , Cerebellar Ataxia/complications , Cerebellar Ataxia/diagnostic imaging , Chorea/complications , Chorea/diagnostic imaging , Diagnosis, Differential , Female , Humans , Seizures/complications , Seizures/diagnostic imagingABSTRACT
AIM: To identify and systematically review the psychometric properties and clinical utility of dystonia and choreoathetosis scales reported for children with cerebral palsy (CP). METHOD: Six electronic databases were searched for dystonia and choreoathetosis scales with original psychometric data for children with CP aged 0 to 18 years. RESULTS: Thirty-four papers met the inclusion criteria, which contained six scales purported to measure dystonia and/or choreoathetosis in children with CP: the Burke-Fahn-Marsden Dystonia Rating Scale; Barry-Albright Dystonia Scale; Unified Dystonia Rating Scale; Movement Disorder-Childhood Rating Scale; Movement Disorder-Childhood Rating Scale 0-3 Years; and the Dyskinesia Impairment Scale. INTERPRETATION: Each scale provides useful information about dyskinesia, with most focusing on dystonia. The Barry-Albright Dystonia Scale, which was designed for CP, is the most commonly reported scale and least complex to use clinically. The Dyskinesia Impairment Scale is the only tool to consider both dystonia and choreoathetosis in CP. All tools are designed to classify movement disorders at the level of body functions and structures, rather than activity limitations or participation restrictions, although many provide some insight into the impact of dystonia on activities. Further studies are required to fully examine the validity, reliability, responsiveness, and clinical utility of each scale specifically for children with CP.
Subject(s)
Athetosis/diagnosis , Cerebral Palsy/diagnosis , Chorea/diagnosis , Dystonic Disorders/diagnosis , Severity of Illness Index , Adolescent , Athetosis/etiology , Cerebral Palsy/complications , Child , Child, Preschool , Chorea/etiology , Dystonic Disorders/etiology , Humans , InfantSubject(s)
Athetosis/diagnosis , Chorea/diagnosis , Congenital Hypothyroidism/diagnosis , Pedigree , Respiratory Distress Syndrome, Newborn/diagnosis , Adult , Athetosis/complications , Athetosis/diagnostic imaging , Athetosis/genetics , Chorea/complications , Chorea/diagnostic imaging , Chorea/genetics , Congenital Hypothyroidism/complications , Congenital Hypothyroidism/diagnostic imaging , Congenital Hypothyroidism/etiology , Congenital Hypothyroidism/genetics , Female , Humans , Infant, Newborn , Lung/diagnostic imaging , Macroglossia/etiology , Male , Mothers , Muscle Hypotonia/etiology , Nuclear Proteins , Respiratory Distress Syndrome, Newborn/complications , Respiratory Distress Syndrome, Newborn/diagnostic imaging , Respiratory Distress Syndrome, Newborn/etiology , Respiratory Distress Syndrome, Newborn/genetics , Thyroid Nuclear Factor 1 , Tomography, X-Ray Computed , Transcription FactorsABSTRACT
Central nervous system histoplasmosis is a rare opportunistic infection with a heterogeneous clinical presentation. We describe the first case of human immunodeficiency virus-associated cerebral histoplasmosis presenting with hemichorea. The patient recovered after treatment with conventional amphotericin B and itraconazole.
Subject(s)
AIDS-Related Opportunistic Infections/diagnosis , Athetosis/diagnosis , Chorea/diagnosis , Histoplasma/isolation & purification , Histoplasmosis/diagnosis , AIDS-Related Opportunistic Infections/drug therapy , AIDS-Related Opportunistic Infections/microbiology , Adult , Amphotericin B/therapeutic use , Anti-Infective Agents/therapeutic use , Antifungal Agents/therapeutic use , Athetosis/drug therapy , Biopsy , Brain/pathology , Chorea/drug therapy , Histoplasma/classification , Histoplasmosis/drug therapy , Homosexuality, Male , Humans , Itraconazole/therapeutic use , Magnetic Resonance Imaging , Male , Treatment OutcomeSubject(s)
Athetosis/chemically induced , Bipolar Disorder/drug therapy , Chorea/chemically induced , Cognition Disorders/chemically induced , Lithium Chloride/adverse effects , Aged , Athetosis/blood , Athetosis/diagnosis , Bipolar Disorder/blood , Chorea/blood , Chorea/diagnosis , Cognition Disorders/blood , Cognition Disorders/diagnosis , Diagnosis, Differential , Female , Humans , Lithium Chloride/pharmacokinetics , Lithium Chloride/therapeutic use , Long-Term CareSubject(s)
Athetosis/diagnosis , Athetosis/etiology , Diabetes Complications/diagnosis , Hyperglycinemia, Nonketotic/complications , Hyperglycinemia, Nonketotic/diagnosis , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Athetosis/drug therapy , Chorea , Diabetes Complications/drug therapy , Female , Humans , Hyperglycinemia, Nonketotic/drug therapy , Hypoglycemic Agents/therapeutic use , Middle Aged , Treatment OutcomeSubject(s)
Athetosis/diagnosis , Brain Neoplasms/diagnosis , Chorea/diagnosis , Lymphoma, Large B-Cell, Diffuse/diagnosis , Athetosis/etiology , Brain Neoplasms/complications , Chorea/etiology , Humans , Internal Capsule/pathology , Lymphoma, Large B-Cell, Diffuse/complications , Magnetic Resonance Imaging , Male , Middle Aged , Paresis/diagnosis , Paresis/etiology , Subthalamic Nucleus/pathology , Tegmentum Mesencephali/pathology , Thalamus/pathologySubject(s)
Athetosis/diagnosis , Athetosis/physiopathology , Chorea/diagnosis , Chorea/physiopathology , Head/physiopathology , Huntington Disease/diagnosis , Huntington Disease/physiopathology , Athetosis/etiology , Chorea/etiology , Female , Humans , Huntington Disease/complications , Male , Middle AgedSubject(s)
Athetosis/diagnosis , Chorea/diagnosis , Disability Evaluation , Dystonia/diagnosis , Female , Humans , MaleABSTRACT
AIM: The aim of this study was to examine the reliability and validity of the Dyskinesia Impairment Scale (DIS). The DIS consists of two subscales: dystonia and choreoathetosis. It measures both phenomena in dyskinetic cerebral palsy (CP). METHOD: Twenty-five participants with dyskinetic CP (17 males; eight females; age range 522y; mean age 13y 6mo; SD 5y 4mo), recruited from special schools for children with motor disorders, were included. Exclusion criteria were changes in muscle relaxant medication within the previous 3 months, orthopaedic or neurosurgical interventions within the previous year, and spinal fusion. Interrater reliability was verified by two independent raters. For interrater reliability, intraclass correlation coefficients were assessed. Standard error of measurement, the minimal detectable difference, and Cronbach's alpha for internal consistency were determined. For concurrent validity of the DIS dystonia subscale, the BarryAlbright Dystonia Scale was administered. RESULTS: The intraclass correlation coefficient for the total DIS score and the two subscales ranged between 0.91 and 0.98 for interrater reliability. The reliability of the choreoathetosis subscale was found to be higher than that of the dystonia subscale. The standard error of the measurement and minimal detectable difference values were adequate. Cronbach's alpha values ranged from 0.89 to 0.93. Pearson's correlation between the dystonia subscale and BarryAlbright Dystonia Scale was 0.84 (p<0.001). INTERPRETATION: Good to excellent reliability and validity were found for the DIS. The DIS may be promising for increasing insights into the natural history of dyskinetic CP and evaluating interventions. Future research on the responsiveness of the DIS is warranted.
Subject(s)
Athetosis/diagnosis , Chorea/diagnosis , Disability Evaluation , Dystonia/diagnosis , Adolescent , Athetosis/complications , Athetosis/etiology , Cerebral Palsy/complications , Child , Child, Preschool , Chorea/complications , Chorea/etiology , Dystonia/etiology , Female , Humans , Male , Reproducibility of Results , Statistics as Topic , Young AdultABSTRACT
Introducción. Los niños con parálisis cerebral de tipo extrapiramidal requieren de una evaluación funcional global que mida cambios antes, durante y después de tratamientos. Objetivo. Validar dos escalas de evaluación: compromiso funcional global y tipo de movimiento involuntario predominante en extremidades superiores. Pacientes y método. 63 pacientes seleccionados aleatoriamente de Teleton-Santiago-Chile-2006, diagnóstico parálisis cerebral, alteración de movimiento de tipo extrapiramidal, de 418 años, que cumplieron requisitos de inclusión; se aplicó escala de compromiso funcional (con dimensiones: postura sedente, actividades de la vida diaria y funcionalidad manual) y escala de movimientos Involuntarios (atetosis, coreatetosis y distonía). Resultados. La escala de compromiso funcional muestra alta consistencia interna (α Cronbach 0,94), valor kappa de variabilidad entre observadores de 0,78; validez de constructo constituido por 2 componentes principales que explicaron 75,7% de la funcionalidad. La escala clasificó a los niños en 46% como grave o severo, 25,4% como moderado, 20,6% como leve y sólo al 7,9% como clínicamente normal. La escala de movimientos involuntarios registró confiabilidad con valor kappa de 0,85 y consistencia interna de 0,97; clasificó como distónicos al 38,1% de los niños, coreatetósicos el 33,3% y 28,9% como atetósicos. Conclusión. Las escalas demostraron ser confiables y válidas por lo tanto, pueden ser utilizadas como ayuda en la planificación y evolución terapéutica(AU)
Introduction. Children with extrapyramidal cerebral palsy require a comprehensive functional assessment that records their functions before, and measures the changes during and after the treatments. Objective. Validate two assessment scales: global functionality and type of predominant unintentional movement in upper extremities. Patients and method. 63 patients were randomly selected from Teleton-Santiago-Chile-2006, diagnosed with cerebral palsy, extrapyramidal type alteration movement, 4 to 18 years, which met the inclusion requirements: they were evaluated with the functional compromise scale (with dimensions: sitting posture, daily living activities, and manual functionality) and with the involuntary movements scale (athetosis, choreathetosis and dystonia). Results. The scale of functional assessment shows high internal consistency (α Cronbach 0.94), a kappa value of variability among observers of 0.78, and construct validity, which consists of two main components that explained 75.7% of the functionality. The scale ranked children as: 46% as serious or severe, 25.4% as moderate, 20.6% as mild, and only 7.9% as normal. The scale of involuntary movements showed high reliability with kappa value of 0.85 and internal consistency of 0.97, and ranked 38.1% of the children as dystonic, 33.3% as choreathetosics, and 28.9% as athetosics. Conclusion. The scales proved to be reliable and valid therefore can be used as an aid in planning and therapeutic evaluation(AU)
