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Development of prediction models based on respiratory assessments to determine the need for non-invasive ventilation in patients with myotonic dystrophy type 1

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Abstract

Introduction

Myotonic dystrophy type 1 is a slowly progressive, multisystem, autosomal dominant disorder, in which the impairments of respiratory systems represent one of the main causes of death.

Objective

The aim of our study is to develop prediction models to identify the most appropriate test(s) providing indication for NIV.

Methods

DM1 patients attending the NEMO Clinical Center (Milan) between January 2008 and July 2020, who had been subjected to a complete battery of respiratory tests, were retrospectively recruited. Demographic, clinical, and anthropometric characteristics were collected, as well as arterial blood gas (ABG) analysis, spirometry, respiratory muscle strength, cough efficacy, and nocturnal oximetry as respiratory assessments. Patients were stratified in those requiring NIV and those with normal respiratory function.

Results

Out of 151 DM1 patients (median age: 44 years [35.00–53.00]; male/female ratio: 0.80 (67/84)), 76 had an indication for NIV initiation (50.33%). ABG, spirometry, and nocturnal oximetry prediction models resulted in an excellent discriminatory ability in distinguishing patients who needed NIV from those who did not (AUC of 0.818, 0.808, and 0.935, respectively). An easy-to-use calculator was developed to automatically determine a score of NIV necessity based on the prediction equations generated from each aforementioned prediction model.

Conclusions

The proposed prediction models may help to identify which patients are at a higher risk of requiring ventilator support and therefore help in defining individual management plans and criteria for specific interventions early in the disease course.

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Data availability statement

Data are available upon reasonable request. De-identified database will be shared upon reasonable request for 2 years after publication by contacting the corresponding author at the following e-mail: andrea.lizio@centrocliniconemo.it.

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Acknowledgments

We are grateful to all patients and their caregiver that collaborate to the study.

Author information

Authors and Affiliations

  1. NEuroMuscular Omnicentre (NEMO), Fondazione Serena Onlus, Piazza Ospedale Maggiore 3, 20162, Milano, Italy

    Andrea Lizio, Alice Pirola, Carola Rita Aggradi Ferrari, Luca Mauro, Elisa Falcier & Valeria Ada Sansone

  2. Neurorehabilitation Unit, University of Milan, Via Festa del Perdono 7, 20122, Milano, Italy

    Valeria Ada Sansone

Authors
  1. Andrea Lizio
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  2. Alice Pirola
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  3. Carola Rita Aggradi Ferrari
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  4. Luca Mauro
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  5. Elisa Falcier
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  6. Valeria Ada Sansone
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Corresponding author

Correspondence to Andrea Lizio.

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Ethical approval

According to the Declaration of Helsinki and the ICH E6 Guideline for Good Clinical Practice, all patients signed and personally dated an approved informed consent form, after receiving detailed written and verbal information. The study was approved the institutional ethics committee of Milano Area 3 (No. 392-09062021).

Conflict of interest

AL received compensation for occasional scientific consulting from Italfarmaco, VAS participates in Advisory Boards or Teaching activities for Biogen, Roche, Avexis, PTC, Santhera, Sarepta, Dyne. Other authors declared no disclosures.

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Lizio, A., Pirola, A., Ferrari, C.R.A. et al. Development of prediction models based on respiratory assessments to determine the need for non-invasive ventilation in patients with myotonic dystrophy type 1. Neurol Sci 44, 2149–2157 (2023). https://doi.org/10.1007/s10072-023-06631-0

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