A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

Table 1 Characteristics of interview participants

Characteristic	N = 12
Age, median (IQR)	36.5 (10)
Married/living together, n (%)	12 (100)
Education level^a, n (%)
Low	1 (8)
Moderate	2 (17)
High	9 (75)
Number of children, median (IQR)	2 (1)
Time in years since primary carnitine deficiency diagnosis^b, median (IQR)	5 (4)
Self-reported symptoms assigned to OCTN2 deficiency^c, n (%)	4 (33)
Taking medication for primary carnitine deficiency, n (%)	8 (67)

IQR = Interquartile Range.
^aLow: elementary school, lower level of secondary school, lower vocational training; Moderate: higher level of secondary school, intermediate vocational training; and High: higher vocational training university.
^bInterviews were conducted between September 2020 and April 2021.
^cAt the time of the interview, i.e., fatigue/lack of energy (n = 3) and muscle weakness (n = 1).

ISSN: 1750-1172