OBJECTIVE: To describe the prevalence and characteristics of sleep-disordered breathing (SDB) in a large cohort of patients with genetically confirmed mitochondrial diseases. METHODS: This is a prospective observational study performed at the Neurophysiopatology Unit of Fondazione Policlinico Universitario A. Gemelli IRCCS. All participants had a defined mitochondrial disease and were investigated by full-night polysomnography. RESULTS: One hundred three consecutive patients were enrolled. SDB was demonstrated in 49 patients (47.6%). Regarding phenotypes, we found differences in distribution between the groups: patients affected by progressive external ophthalmoplegia with single or multiple mtDNA deletions frequently had obstructive apneas (50% and 43.8%) or REM-related hypoventilation when associated with m.3243A>G mutations (75%). Furthermore, a high percentage of participants with maternally inherited diabetes and deafness and myoclonic epilepsy with ragged-red fibers syndromes were characterized by obstructive sleep apnea and REM-related hypoventilation, respectively. In contrast to what has been described in previous studies, central sleep apnea was rarely reported in our cohort. CONCLUSIONS: SDB has a higher prevalence in mitochondrial diseases compared to general population-based data. Overall, these results suggest that patients characterized by a specific phenotype-genotype combination are most at risk of developing a specific subgroup of SDB. The early identification of this disorder is crucial in the management of these fragile patients.

Primiano, G. A., Brunetti, V., Vollono, C., Losurdo, A., Moroni, R., Della Marca, G., Servidei, S., Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study, <<NEUROLOGY>>, 2021; 2021 (96): e241-e249. [doi:10.1212/WNL.0000000000011005] [http://hdl.handle.net/10807/178448]

Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study

Primiano, Guido Alessandro;Vollono, Catello;Della Marca, Giacomo;Servidei, Serenella
2021

Abstract

OBJECTIVE: To describe the prevalence and characteristics of sleep-disordered breathing (SDB) in a large cohort of patients with genetically confirmed mitochondrial diseases. METHODS: This is a prospective observational study performed at the Neurophysiopatology Unit of Fondazione Policlinico Universitario A. Gemelli IRCCS. All participants had a defined mitochondrial disease and were investigated by full-night polysomnography. RESULTS: One hundred three consecutive patients were enrolled. SDB was demonstrated in 49 patients (47.6%). Regarding phenotypes, we found differences in distribution between the groups: patients affected by progressive external ophthalmoplegia with single or multiple mtDNA deletions frequently had obstructive apneas (50% and 43.8%) or REM-related hypoventilation when associated with m.3243A>G mutations (75%). Furthermore, a high percentage of participants with maternally inherited diabetes and deafness and myoclonic epilepsy with ragged-red fibers syndromes were characterized by obstructive sleep apnea and REM-related hypoventilation, respectively. In contrast to what has been described in previous studies, central sleep apnea was rarely reported in our cohort. CONCLUSIONS: SDB has a higher prevalence in mitochondrial diseases compared to general population-based data. Overall, these results suggest that patients characterized by a specific phenotype-genotype combination are most at risk of developing a specific subgroup of SDB. The early identification of this disorder is crucial in the management of these fragile patients.
2021
Inglese
Primiano, G. A., Brunetti, V., Vollono, C., Losurdo, A., Moroni, R., Della Marca, G., Servidei, S., Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study, <<NEUROLOGY>>, 2021; 2021 (96): e241-e249. [doi:10.1212/WNL.0000000000011005] [http://hdl.handle.net/10807/178448]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/178448
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