Frontiers in Neurology (Jun 2024)

24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status

  • Silvia Leoncini,
  • Silvia Leoncini,
  • Silvia Leoncini,
  • Lidia Boasiako,
  • Lidia Boasiako,
  • Sofia Di Lucia,
  • Amir Beker,
  • Valeria Scandurra,
  • Aglaia Vignoli,
  • Maria Paola Canevini,
  • Giulia Prato,
  • Lino Nobili,
  • Lino Nobili,
  • Antonio Gennaro Nicotera,
  • Gabriella Di Rosa,
  • Gabriella Di Rosa,
  • Maria Beatrice Testa Chiarini,
  • Renato Cutrera,
  • Salvatore Grosso,
  • Salvatore Grosso,
  • Giacomo Lazzeri,
  • Giacomo Lazzeri,
  • Enrico Tongiorgi,
  • Pasquale Morano,
  • Matteo Botteghi,
  • Matteo Botteghi,
  • Alessandro Barducci,
  • Claudio De Felice,
  • Claudio De Felice,
  • Claudio De Felice

DOI
https://doi.org/10.3389/fneur.2024.1388506
Journal volume & issue
Vol. 15

Abstract

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BackgroundSleep is disturbed in Rett syndrome (RTT), a rare and progressive neurodevelopmental disorder primarily affecting female patients (prevalence 7.1/100,000 female patients) linked to pathogenic variations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Autonomic nervous system dysfunction with a predominance of the sympathetic nervous system (SNS) over the parasympathetic nervous system (PSNS) is reported in RTT, along with exercise fatigue and increased sudden death risk. The aim of the present study was to test the feasibility of a continuous 24 h non-invasive home monitoring of the biological vitals (biovitals) by an innovative wearable sensor device in pediatric and adolescent/adult RTT patients.MethodsA total of 10 female patients (mean age 18.3 ± 9.4 years, range 4.7–35.5 years) with typical RTT and MECP2 pathogenic variations were enrolled. Clinical severity was assessed by validated scales. Heart rate (HR), respiratory rate (RR), and skin temperature (SkT) were monitored by the YouCare Wearable Medical Device (Accyourate Group SpA, L’Aquila, Italy). The average percentage of maximum HR (HRmax%) was calculated. Heart rate variability (HRV) was expressed by consolidated time-domain and frequency-domain parameters. The HR/LF (low frequency) ratio, indicating SNS activation under dynamic exercise, was calculated. Simultaneous continuous measurement of indoor air quality variables was performed and the patients’ contributions to the surrounding water vapor partial pressure [PH2O (pt)] and carbon dioxide [PCO2 (pt)] were indirectly estimated.ResultsOf the 6,559.79 h of biovital recordings, 5051.03 h (77%) were valid for data interpretation. Sleep and wake hours were 9.0 ± 1.1 h and 14.9 ± 1.1 h, respectively. HRmax % [median: 71.86% (interquartile range 61.03–82%)] and HR/LF [median: 3.75 (interquartile range 3.19–5.05)] were elevated, independent from the wake–sleep cycle. The majority of HRV time- and frequency-domain parameters were significantly higher in the pediatric patients (p ≤ 0.031). The HRV HR/LF ratio was associated with phenotype severity, disease progression, clinical sleep disorder, subclinical hypoxia, and electroencephalographic observations of multifocal epileptic activity and general background slowing.ConclusionOur findings indicate the feasibility of a continuous 24-h non-invasive home monitoring of biovital parameters in RTT. Moreover, for the first time, HRmax% and the HR/LF ratio were identified as potential objective markers of fatigue, illness severity, and disease progression.

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