The efficacy of NIV in patients affected by Rett syndrome with hypoventilation

Abstract

IntroductionRett syndrome is a progressive neurological disorder associated to several comorbidities that contribute significantly to impair lung function. Respiratory morbidity represents a major cause of death in this population. Little is known about the benefit of non-invasive ventilation. Methodswe retrospectively enrolled patients with Rett syndrome who underwent a pneumological evaluation combined with a cardio-respiratory polygraphy and/or a pulse oximetry and capnography from 2012 to 2022. Resultsmedical records of eleven patients with Rett syndrome, mean age 13 ± 6 years, were evaluated. Most patients presented both with epilepsy and scoliosis. Five patients showed a pathological sleep study and/or impaired night gas exchange: mean obstructive apnea/hypopneas index was 4 ± 3 events/h; mean and minimal SpO2 were respectively 93 ± 2 % and 83± 6 %, while mean and maximal PtcCO2 were, respectively, 51 ± 5 mmHg and 55 ± 8 mmHg; mean oxygen desaturation index was 13 ± 11 events/h. These patients started non-invasive ventilation with clinical benefit and improved gas exchange mostly in terms of PtCO2 (mean PtCO2 51 ± 5 mmHg before and 46 ± 6 mmHg after non-invasive ventilation). Conclusionnon-invasive ventilation is a suitable option for patients with Rett syndrome.