Machine learning-based longitudinal prediction for GJB2-related sensorineural hearing loss

Recessive GJB2 variants, the most common genetic cause of hearing loss, may contribute to progressive sensorineural hearing loss (SNHL). The aim of this study is to build a realistic predictive model for GJB2-related SNHL using machine learning to enable personalized medical planning for timely inte...

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Published in:Computers in biology and medicine 2024-06, Vol.176, p.108597-108597, Article 108597
Main Authors: Chen, Pey-Yu, Yang, Ta-Wei, Tseng, Yi-Shan, Tsai, Cheng-Yu, Yeh, Chiung-Szu, Lee, Yen-Hui, Lin, Pei-Hsuan, Lin, Ting-Chun, Wu, Yu-Jen, Yang, Ting-Hua, Chiang, Yu-Ting, Hsu, Jacob Shu-Jui, Hsu, Chuan-Jen, Chen, Pei-Lung, Chou, Chen-Fu, Wu, Chen-Chi
Format: Article
Language:English
Subjects:
Acceptable noise levels
Adolescent
Adult
Algorithms
Child
Child, Preschool
Connexin 26 - genetics
Deep learning
Female
Genotypes
GJB2
Hearing
Hearing loss
Hearing Loss, Sensorineural - genetics
Hearing Loss, Sensorineural - physiopathology
Hereditary hearing loss
Humans
Learning algorithms
Long short-term memory
Long short-term memory model
Machine Learning
Male
Medical records
Middle Aged
Multilayer perceptrons
Prediction model
Prediction models
Statistical methods
Citations: Items that this one cites
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Summary:Recessive GJB2 variants, the most common genetic cause of hearing loss, may contribute to progressive sensorineural hearing loss (SNHL). The aim of this study is to build a realistic predictive model for GJB2-related SNHL using machine learning to enable personalized medical planning for timely intervention. Patients with SNHL with confirmed biallelic GJB2 variants in a nationwide cohort between 2005 and 2022 were included. Different data preprocessing protocols and computational algorithms were combined to construct a prediction model. We randomly divided the dataset into training, validation, and test sets at a ratio of 72:8:20, and repeated this process ten times to obtain an average result. The performance of the models was evaluated using the mean absolute error (MAE), which refers to the discrepancy between the predicted and actual hearing thresholds. We enrolled 449 patients with 2184 audiograms available for deep learning analysis. SNHL progression was identified in all models and was independent of age, sex, and genotype. The average hearing progression rate was 0.61 dB HL per year. The best MAE for linear regression, multilayer perceptron, long short-term memory, and attention model were 4.42, 4.38, 4.34, and 4.76 dB HL, respectively. The long short-term memory model performed best with an average MAE of 4.34 dB HL and acceptable accuracy for up to 4 years. We have developed a prognostic model that uses machine learning to approximate realistic hearing progression in GJB2-related SNHL, allowing for the design of individualized medical plans, such as recommending the optimal follow-up interval for this population. •GJB2 mutations are a leading cause of hearing loss worldwide.•Slow progression is a hallmark of GJB2-related hearing impairment.•Machine learning allows accurate prediction hearing outcome of GJB2-related hearing impairment.•The LSTM model accurately predicts hearing thresholds up to 4 years.
ISSN:0010-4825
1879-0534
DOI:10.1016/j.compbiomed.2024.108597