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. 2023 Nov 9;5(6):fcad299. doi: 10.1093/braincomms/fcad299

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.