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Author Response: Sleep-disordered breathing in adult patients with mitochondrial diseases: A cohort study

  • Guido Primiano, Neurologist, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
  • Rossana Moroni, Biostatistician, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
  • Serenella Servidei, Neurologist, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
Submitted February 20, 2021

We thank Dr. Kawada for his comments on our study.1 As reported in the article, the objective was to describe the prevalence and characteristics of sleep-disordered breathing (SDB) in adult patients with genetically confirmed mitochondrial diseases through a cross-sectional study. We are pleased for the opportunity to clarify this point, since the use of the word "cohort" and “prospective" might be confusing. We agree with Dr. Kawada regarding the stability of the estimates for the SDB’s predictors and we hope to confirm our results in a study with a greater number of events.

The retrospective study conducted by Mosquera et al. in a small number of pediatric patients reported an interesting association between decreased muscle tone and SDB.2 This finding seems to strengthen our data supporting the important role of muscle involvement in the occurrence of SDB, especially regarding specific subgroups, as also demonstrated by the absence of central sleep apnea. Finally, in our opinion, multicenter collaborative studies should be prioritized, especially in this area of mitochondrial research where only case reports or small case series have been reported so far.3

Disclosure

The authors report no relevant disclosures. Contact journal@neurology.org for full disclosures. 

References

  1. Primiano G, Brunetti V, Vollono C, et al. Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study. Neurology. 2021;96(2):e241-e249. doi:10.1212/WNL.0000000000011005
  2. Mosquera RA, Koenig MK, Adejumo RB, et al. Sleep disordered breathing in children with mitochondrial disease. Pulm Med. 2014;2014:467576. doi:10.1155/2014/467576
  3. Ramezani RJ, Stacpoole PW. Sleep disorders associated with primary mitochondrial diseases. J Clin Sleep Med. 2014;10(11):1233-1239. Published 2014 Nov 15. doi:10.5664/jcsm.4212

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Neurology | Print ISSN:0028-3878
Online ISSN:1526-632X

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