scholarly journals Predicting Parkinson’s Disease and Its Pathology via Simple Clinical Variables

2021 ◽  
pp. 1-11
Author(s):  
Ibrahim Karabayir ◽  
Liam Butler ◽  
Samuel M. Goldman ◽  
Rishikesan Kamaleswaran ◽  
Fatma Gunturkun ◽  
...  

Background: Parkinson’s disease (PD) is a chronic, disabling neurodegenerative disorder. Objective: To predict a future diagnosis of PD using questionnaires and simple non-invasive clinical tests. Methods: Participants in the prospective Kuakini Honolulu-Asia Aging Study (HAAS) were evaluated biannually between 1995–2017 by PD experts using standard diagnostic criteria. Autopsies were sought on all deaths. We input simple clinical and risk factor variables into an ensemble-tree based machine learning algorithm and derived models to predict the probability of developing PD. We also investigated relationships of predictive models and neuropathologic features such as nigral neuron density. Results: The study sample included 292 subjects, 25 of whom developed PD within 3 years and 41 by 5 years. 116 (46%) of 251 subjects not diagnosed with PD underwent autopsy. Light Gradient Boosting Machine modeling of 12 predictors correctly classified a high proportion of individuals who developed PD within 3 years (area under the curve (AUC) 0.82, 95%CI 0.76–0.89) or 5 years (AUC 0.77, 95%CI 0.71–0.84). A large proportion of controls who were misclassified as PD had Lewy pathology at autopsy, including 79%of those who died within 3 years. PD probability estimates correlated inversely with nigral neuron density and were strongest in autopsies conducted within 3 years of index date (r = –0.57, p <  0.01). Conclusion: Machine learning can identify persons likely to develop PD during the prodromal period using questionnaires and simple non-invasive tests. Correlation with neuropathology suggests that true model accuracy may be considerably higher than estimates based solely on clinical diagnosis.

2020 ◽  
Author(s):  
Ibrahim Karabayir ◽  
Samuel Goldman ◽  
Suguna Pappu ◽  
Oguz Akbilgic

Abstract Background: Parkinson’s Disease (PD) is a clinically diagnosed neurodegenerative disorder that affects both motor and non-motor neural circuits. Speech deterioration (hypokinetic dysarthria) is a common symptom, which often presents early in the disease course. Machine learning can help movement disorders specialists improve their diagnostic accuracy using non-invasive and inexpensive voice recordings.Method: We used “Parkinson Dataset with Replicated Acoustic Features Data Set” from the UCI-Machine Learning repository. The dataset included 44 speech-test based acoustic features from patients with PD and controls. We analyzed the data using various machine learning algorithms including Light and Extreme Gradient Boosting, Random Forest, Support Vector Machines, K-nearest neighborhood, Least Absolute Shrinkage and Selection Operator Regression, as well as logistic regression. We also implemented a variable importance analysis to identify important variables classifying patients with PD. Results: The cohort included a total of 80 subjects: 40 patients with PD (55% men) and 40 controls (67.5% men). Disease duration was 5 years or less for all subjects, with a mean Unified Parkinson’s Disease Rating Scale (UPDRS) score of 19.6 (SD 8.1), and none were taking PD medication. The mean age for PD subjects and controls was 69.6 (SD 7.8) and 66.4 (SD 8.4), respectively. Our best-performing model used Light Gradient Boosting to provide an AUC of 0.951 with 95% confidence interval 0.946-0.955 in 4-fold cross validation using only seven acoustic features.Conclusions: Machine learning can accurately detect Parkinson’s disease using an inexpensive and non-invasive voice recording. Light Gradient Boosting outperformed other machine learning algorithms. Such approaches could be used to inexpensively screen large patient populations for Parkinson’s disease.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Ibrahim Karabayir ◽  
Samuel M. Goldman ◽  
Suguna Pappu ◽  
Oguz Akbilgic

Abstract Background Parkinson’s Disease (PD) is a clinically diagnosed neurodegenerative disorder that affects both motor and non-motor neural circuits. Speech deterioration (hypokinetic dysarthria) is a common symptom, which often presents early in the disease course. Machine learning can help movement disorders specialists improve their diagnostic accuracy using non-invasive and inexpensive voice recordings. Method We used “Parkinson Dataset with Replicated Acoustic Features Data Set” from the UCI-Machine Learning repository. The dataset included 44 speech-test based acoustic features from patients with PD and controls. We analyzed the data using various machine learning algorithms including Light and Extreme Gradient Boosting, Random Forest, Support Vector Machines, K-nearest neighborhood, Least Absolute Shrinkage and Selection Operator Regression, as well as logistic regression. We also implemented a variable importance analysis to identify important variables classifying patients with PD. Results The cohort included a total of 80 subjects: 40 patients with PD (55% men) and 40 controls (67.5% men). Disease duration was 5 years or less for all subjects, with a mean Unified Parkinson’s Disease Rating Scale (UPDRS) score of 19.6 (SD 8.1), and none were taking PD medication. The mean age for PD subjects and controls was 69.6 (SD 7.8) and 66.4 (SD 8.4), respectively. Our best-performing model used Light Gradient Boosting to provide an AUC of 0.951 with 95% confidence interval 0.946–0.955 in 4-fold cross validation using only seven acoustic features. Conclusions Machine learning can accurately detect Parkinson’s disease using an inexpensive and non-invasive voice recording. Light Gradient Boosting outperformed other machine learning algorithms. Such approaches could be used to inexpensively screen large patient populations for Parkinson’s disease.


2020 ◽  
Author(s):  
Ibrahim Karabayir ◽  
Samuel Goldman ◽  
Suguna Pappu ◽  
Oguz Akbilgic

Abstract Background: Parkinson’s Disease (PD) is a clinically diagnosed neurodegenerative disorder that affects both motor and non-motor neural circuits. Speech deterioration (hypokinetic dysarthria) is a common symptom, which often presents early in the disease course. Machine learning can help movement disorders specialists improve their diagnostic accuracy using non-invasive and inexpensive voice recordings.Method: We used “Parkinson Dataset with Replicated Acoustic Features Data Set” from the UCI-Machine Learning repository. The dataset included 44 speech-test based acoustic features from patients with PD and controls. We analyzed the data using various machine learning algorithms including Light and Extreme Gradient Boosting, Random Forest, Support Vector Machines, K-nearest neighborhood, Least Absolute Shrinkage and Selection Operator Regression, as well as logistic regression. We also implemented a variable importance analysis to identify important variables classifying patients with PD. Results: The cohort included a total of 80 subjects: 40 patients with PD (55% men) and 40 controls (67.5% men). Disease duration was 5 years or less for all subjects, with a mean Unified Parkinson’s Disease Rating Scale (UPDRS) score of 19.6 (SD 8.1), and none were taking PD medication. The mean age for PD subjects and controls was 69.6 (SD 7.8) and 66.4 (SD 8.4), respectively. Our best-performing model used Light Gradient Boosting to provide an AUC of 0.951 with 95% confidence interval 0.946-0.955 in 4-fold cross validation using only seven acoustic features.Conclusions: Machine learning can accurately detect Parkinson’s disease using an inexpensive and non-invasive voice recording. Light Gradient Boosting outperformed other machine learning algorithms. Such approaches could be used to inexpensively screen large patient populations for Parkinson’s disease.


2020 ◽  
Author(s):  
Ibrahim Karabayir ◽  
Suguna Pappu ◽  
Samuel Goldman ◽  
Oguz Akbilgic

Abstract Background : Parkinson’s Disease (PD) is a clinically diagnosed neurodegenerative disorder that affects both motor and non-motor neural circuits. Speech deterioration (hypokinetic dysarthria) is a common symptom, which often presents early in the disease course. Machine learning can help movement disorders specialists improve their diagnostic accuracy using non-invasive and inexpensive voice recordings. Method : We used “Parkinson Dataset with Replicated Acoustic Features Data Set” from the UCI-Machine Learning repository. The dataset included 45 features including sex and 44 speech test based acoustic features from 40 patients with Parkinson’s disease and 40 controls. We analyzed the data using various machine learning algorithms including tree-based ensemble approaches such as random forest and extreme gradient boosting. We also implemented a variable importance analysis to identify important variables classifying patients with PD. Results : The cohort included total of 80 subjects; 40 patients with PD (55% men) and 40 controls (67.5% men). PD patients showed at least two of the three symptoms; resting tremor, bradykinesia, or rigidity. All patients were over 50 years old and the mean age for PD subjects and controls were 69.6 (SD 7.8) and 66.4 (SD 8.4), respectively. Our final model provided an AUC of 0.940 with 95% confidence interval 0.935-0.945in 4-folds cross validation using only six acoustic features including Delta3 (Run2), Delta0 (Run 3), MFCC4 (Run 2), Delta10 (Run 2/Run 3), MFCC10 (Run 2) and Jitter_Rap (Run 1/Run 2). Conclusions : Machine learning can accurately detect Parkinson’s disease using an inexpensive and non-invasive voice recording. Such technologies can be deployed into smartphones for screening of large patient populations for Parkinson’s disease.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yuya Uehara ◽  
Shin-Ichi Ueno ◽  
Haruka Amano-Takeshige ◽  
Shuji Suzuki ◽  
Yoko Imamichi ◽  
...  

AbstractParkinson's disease (PD) is a progressive neurodegenerative disease presenting with motor and non-motor symptoms, including skin disorders (seborrheic dermatitis, bullous pemphigoid, and rosacea), skin pathological changes (decreased nerve endings and alpha-synuclein deposition), and metabolic changes of sebum. Recently, a transcriptome method using RNA in skin surface lipids (SSL-RNAs) which can be obtained non-invasively with an oil-blotting film was reported as a novel analytic method of sebum. Here we report transcriptome analyses using SSL-RNAs and the potential of these expression profiles with machine learning as diagnostic biomarkers for PD in double cohorts (PD [n = 15, 50], controls [n = 15, 50]). Differential expression analysis between the patients with PD and healthy controls identified more than 100 differentially expressed genes in the two cohorts. In each cohort, several genes related to oxidative phosphorylation were upregulated, and gene ontology analysis using differentially expressed genes revealed functional processes associated with PD. Furthermore, machine learning using the expression information obtained from the SSL-RNAs was able to efficiently discriminate patients with PD from healthy controls, with an area under the receiver operating characteristic curve of 0.806. This non-invasive gene expression profile of SSL-RNAs may contribute to early PD diagnosis based on the neurodegeneration background.


2021 ◽  
Author(s):  
Saya R Dennis ◽  
Tanya Simuni ◽  
Yuan Luo

Parkinson's Disease is the second most common neurodegenerative disorder in the United States, and is characterized by a largely irreversible worsening of motor and non-motor symptoms as the disease progresses. A prominent characteristic of the disease is its high heterogeneity in manifestation as well as the progression rate. For sporadic Parkinson's Disease, which comprises ~90% of all diagnoses, the relationship between the patient genome and disease onset or progression subtype remains largely elusive. Machine learning algorithms are increasingly adopted to study the genomics of diseases due to their ability to capture patterns within the vast feature space of the human genome that might be contributing to the phenotype of interest. In our study, we develop two machine learning models that predict the onset as well as the progression subtype of Parkinson's Disease based on subjects' germline mutations. Our best models achieved an ROC of 0.77 and 0.61 for disease onset and subtype prediction, respectively. To the best of our knowledge, our models present state-of-the-art prediction performances of PD onset and subtype solely based on the subjects' germline variants. The genes with high importance in our best-performing models were enriched for several canonical pathways related to signaling, immune system, and protein modifications, all of which have been previously associated with PD symptoms or pathogenesis. These high-importance gene sets provide us with promising candidate genes for future biomedical and clinical research.


2020 ◽  
Vol 10 (5) ◽  
pp. 1827 ◽  
Author(s):  
Rodrigo Olivares ◽  
Roberto Munoz ◽  
Ricardo Soto ◽  
Broderick Crawford ◽  
Diego Cárdenas ◽  
...  

During the last years, highly-recognized computational intelligence techniques have been proposed to treat classification problems. These automatic learning approaches lead to the most recent researches because they exhibit outstanding results. Nevertheless, to achieve this performance, artificial learning methods firstly require fine tuning of their parameters and then they need to work with the best-generated model. This process usually needs an expert user for supervising the algorithm’s performance. In this paper, we propose an optimized Extreme Learning Machine by using the Bat Algorithm, which boosts the training phase of the machine learning method to increase the accuracy, and decreasing or keeping the loss in the learning phase. To evaluate our proposal, we use the Parkinson’s Disease audio dataset taken from UCI Machine Learning Repository. Parkinson’s disease is a neurodegenerative disorder that affects over 10 million people. Although its diagnosis is through motor symptoms, it is possible to evidence the disorder through variations in the speech using machine learning techniques. Results suggest that using the bio-inspired optimization algorithm for adjusting the parameters of the Extreme Learning Machine is a real alternative for improving its performance. During the validation phase, the classification process for Parkinson’s Disease achieves a maximum accuracy of 96.74% and a minimum loss of 3.27%.


2020 ◽  
Author(s):  
Kevin P. Nguyen ◽  
Vyom Raval ◽  
Alex Treacher ◽  
Cooper Mellema ◽  
Frank Yu ◽  
...  

AbstractParkinson’s disease is the second most common neurodegenerative disorder and is characterized by the loss of ability to control voluntary movements. Predictive biomarkers of progression in Parkinson’s Disease are urgently needed to expedite the development of neuroprotective treatments and facilitate discussions about disease prognosis between clinicians and patients. Resting-state functional magnetic resonance imaging (rs-fMRI) shows promise in predicting progression, with derived measures, including regional homogeneity (ReHo) and fractional amplitude of low frequency fluctuations (fALFF), having been previously been associated with current disease severity. In this work, ReHo and fALFF features from 82 Parkinson’s Disease subjects are used to train machine learning predictors of baseline clinical severity and progression at 1 year, 2 years, and 4 years follow-up as measured by the Movement Disorder Society Unified Depression Rating Scale (MDS-UPDRS) score. This is the first time that rs-fMRI and machine learning have been combined to predict future disease progression. The machine learning models explain up to 30.4% (R2 = 0.304) of the variance in baseline MDS-UPDRS scores, 55.8% (R2 = 0.558) of the variance in year 1 scores, and 47.1% (R2 = 0.471) of the variance in year 2 scores with high statistical significance (p < 0.0001). For distinguishing high- and low-progression individuals (MDS-UPDRS score above or below the median), the models achieve positive predictive values of up to 71% and negative predictive values of up to 84%. The models learn patterns of ReHo and fALFF measures that predict better and worse prognoses. Higher ReHo and fALFF in regions of the default motor network predicted lower current severity and lower future progression. The rs-fMRI features in the temporal lobe, limbic system, and motor cortex were also identified as predictors. These results present a potential neuroimaging biomarker that accurately predicts progression, which may be useful as a clinical decision-making tool and in future trials of neuroprotective treatments.


2021 ◽  
Vol 18 (5) ◽  
pp. 6995-7009
Author(s):  
Leandro Donisi ◽  
◽  
Giuseppe Cesarelli ◽  
Pietro Balbi ◽  
Vincenzo Provitera ◽  
...  

<abstract> <p>Parkinson's disease is the second most common neurodegenerative disorder in the world. Assumed that gait dysfunctions represent a major motor symptom for the pathology, gait analysis can provide clinicians quantitative information about the rehabilitation outcome of patients. In this scenario, wearable inertial systems for gait analysis can be a valid tool to assess the functional recovery of patients in an automatic and quantitative way, helping clinicians in decision making. Aim of the study is to evaluate the impact of the short-term rehabilitation on gait and balance of patients with Parkinson's disease. A cohort of 12 patients with Idiopathic Parkinson's disease performed a gait analysis session instrumented by a wearable inertial system for gait analysis: Opal System, by APDM Inc., with spatial and temporal parameters being analyzed through a statistic and machine learning approach. Six out of fourteen motion parameters exhibited a statistically significant difference between the measurements at admission and at discharge of the patients, while the machine learning analysis confirmed the separability of the two phases in terms of Accuracy and Area under the Receiving Operating Characteristic Curve. The rehabilitation treatment especially improved the motion parameters related to the gait. The study shows the positive impact on the gait of a short-term rehabilitation in patients with Parkinson's disease and the feasibility of the wearable inertial devices, that are increasingly spreading in clinical practice, to quantitatively assess the gait improvement.</p> </abstract>


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