Table 5.
Type of non-invasive ventilation (NIV) used amongst congenital myasthenic syndrome (CMS) patients with a history of NIV use (n = 15)
ID | CMS subtype | Type of ventilation | Further information |
---|---|---|---|
35 | CHAT | Nocturnal | Intermittent use of nocturnal NIV via tracheostomy commenced at 10 months and continued up to the point of discharge aged 17 |
15 | CHRNG | Nocturnal | Continuous nocturnal and diurnal NIV via a facemask from birth until aged 3 months. Switched to nocturnal NIV that was poorly tolerated. Aged 3 years moved to nightly Optiflow |
9 | COLQ | Nocturnal | Diurnal and nocturnal NIV for ∼20 hours per day from birth-1 years old. Reducing regimen every two weeks by age 2. Currently on nocturnal NIV |
32 | COLQ | Nocturnal and diurnal | Nocturnal NIV from 11 to 14 years old, with 2 hours of diurnal NIV |
36 | COLQ | Nocturnal | Continued nocturnal NIV use commenced at 11 years up to at the point of discharge aged 19 |
16 | DOK7 | Nocturnal | Nocturnal NIV regime commenced at 6 months of age and discontinued at 3 years |
17 | DOK7 | Nocturnal | Nocturnal NIV commenced at age 15 |
18 | DOK7 | Nocturnal | Commenced nocturnal and diurnal ventilation via tracheostomy age 1, with regimen altered to solely nocturnal ventilation via tracheostomy aged 2 |
33 | DOK7 | Nocturnal | Nocturnal ventilation commenced at age 17 |
19 | CHRNE FCS | Emergency non-invasive ventilation | Moved to emergency NIV availability after diurnal NIV regime aged 3 to 8 years |
26 | RAPSN | Emergency non-invasive ventilation | Moved to emergency NIV availability after diurnal NIV regime from 6 to 7 years |
29 | RAPSN | Emergency non-invasive ventilation | Moved to emergency NIV availability after poor tolerance of nocturnal NIV aged 16 |
34 | RAPSN | Nocturnal | Nocturnal NIV commenced aged 16, and continued nocturnal NIV use at the point of discharge aged 18 |
39 | RAPSN | Nocturnal | Nocturnal NIV from birth |
Summary of ventilation history after a review of patient records included.