A comprehensive evaluation of mobile health technology revealed the ability to identify subtle motor impairment in patients with mild and asymptomatic Pompe disease: one-year follow-up.

Lucia Ferullo

A comprehensive evaluation of mobile health technology revealed the ability to identify subtle motor impairment in patients with mild and asymptomatic Pompe disease: one-year follow-up.

Autori

LUCIA FERULLO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, BRESCIA, ITALY, UNIT OF NEUROLOGY, ASST SPEDALI CIVILI, BRESCIA, ITALY – NEUROLOGY)
ANDREA RIZZARDI (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, BRESCIA, ITALY, UNIT OF NEUROLOGY, ASST SPEDALI CIVILI, BRESCIA, ITALY, LABORATORY OF DIGITAL NEUROLOGY AND BIOSENSORS, UNIVERSITY OF BRESCIA, ITALY – NEUROLOGY)
BEATRICE LABELLA (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, BRESCIA, ITALY, UNIT OF NEUROLOGY, ASST SPEDALI CIVILI, BRESCIA, ITALY – NEUROLOGY)
CINZIA ZATTI (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, BRESCIA, ITALY, UNIT OF NEUROLOGY, ASST SPEDALI CIVILI, BRESCIA, ITALY, LABORATORY OF DIGITAL NEUROLOGY AND BIOSENSORS, UNIVERSITY OF BRESCIA, ITALY – NEUROLOGY)
CLINT HANSEN (DEPARTMENT OF NEUROLOGY, CHRISTIAN-ALBRECHTS-UNIVERSITY OF KIEL, KIEL, GERMANY – NEUROLOGY)
ROBBIN ROMIJNDERS (DEPARTMENT OF NEUROLOGY, CHRISTIAN-ALBRECHTS-UNIVERSITY OF KIEL, KIEL, GERMANY – NEUROLOGY)
BARBARA RISI (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – NEUROLOGY)
FILOMENA CARIA (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – NEUROLOGY)
SIMONA DAMIOLI (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – PAEDIATRIC NEUROLOGY)
EMANUELE OLIVIERI (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, BRESCIA, ITALY, UNIT OF NEUROLOGY, ASST SPEDALI CIVILI, BRESCIA, ITALY – NEUROLOGY)
LORIS POLI (UNIT OF NEUROLOGY, ASST SPEDALI CIVILI, BRESCIA, ITALY – NEUROLOGY)
STEFANO COTTI PICCINELLI (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, BRESCIA, ITALY, NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – NEUROLOGY)
WALTER MAETZLER (DEPARTMENT OF NEUROLOGY, CHRISTIAN-ALBRECHTS-UNIVERSITY OF KIEL, KIEL, GERMANY – NEUROLOGY)
ALESSANDRO PADOVANI (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, BRESCIA, ITALY, UNIT OF NEUROLOGY, ASST SPEDALI CIVILI, BRESCIA, ITALY, LABORATORY OF DIGITAL NEUROLOGY AND BIOSENSORS, UNIVERSITY OF BRESCIA, ITALY – NEUROLOGY)
ANDREA PILOTTO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, BRESCIA, ITALY, UNIT OF NEUROLOGY, ASST SPEDALI CIVILI, BRESCIA, ITALY, LABORATORY OF DIGITAL NEUROLOGY AND BIOSENSORS, UNIVERSITY OF BRESCIA, ITALY – NEUROLOGY)
MASSIMILIANO FILOSTO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, BRESCIA, ITALY, NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – NEUROLOGY)

Presentatore

LUCIA FERULLO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, BRESCIA, ITALY, UNIT OF NEUROLOGY, ASST SPEDALI CIVILI, BRESCIA, ITALY)

Modalità

Oral Communication

Abstract

INTRODUCTION: The effectiveness of conventional motor performance assessment to evaluate progression and treatment response in clinical practice and trials of late-onset Pompe disease (LOPD) is still debated. Preliminary results indicate that Mobile Health Technologies (MHT) could identify walking abnormalities in mild and asymptomatic patients with LOPD.
PATIENTS AND METHOD: Eight LOPD patients (mean age 43.2 years), able to walk without aids and treated with enzyme replacement therapy, and 52 matched healthy controls (HC) (mean age 44.2) underwent an MHT-based gait analysis (T0) followed by a one-year assessment (T1). Timed Up and Go test and 6-minute walking test (6WT) were performed by using wearable devices positioned at the lower limbs. Standard functional and daily life scales were also collected. A non-parametric test was used to assess differences between patients and HC. A correlation adjusted for age and sex was performed on gait parameters analyzed by MHT. Finally, repeated measures by ANOVA assessed differences across evaluations.
RESULTS: At T0, patients displayed fewer steps with longer step time, shorter step length, increased variability in step time, lower angular and peak velocity, and a higher duration of turning than HC. At one-year follow-up, no major changes in clinical scales were detected in any individual patient. Conversely, MHT identified subtle heterogeneous changes, especially in step time variability and angle of turning compared to baseline values.
CONCLUSION: Our results confirmed that MHT may distinguish LOPD patients from HC and can track subtle individual differences over time with higher sensitivity compared to standard clinical scales.