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Table 4 Key impacts on ADLs of patients with example quotes

From: Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

Impact on ADLs

Example Quote

Difficulty eating or drinking (n = 20; 71.4%)

“We’ve had other choking events in the past and, um, sometimes it can just even be related to if say, like, if they were raw vegetables, you know? Like, so, now we know they definitely have to be cooked and soft. Um, uh, and then the, the presentation is usually he, um, you, you know, gets real red in the face, his eyes start to bug up a little bit, and he doesn’t realize that he has to stop eating, and then he keeps shoveling more in there, and then he goes to take a drink, and then that’s when nothing will go down.” (Caregiver of 25-year-old male)

Having to give up or having difficulty continuing previous activities (n = 19; 67.9%)

“I just haven’t got the physical strength to do the things that I would normally do. I just haven’t got the energy to, it’s not every day, but most days I just haven’t got the energy to be able to do the things that I used to do.” (55-year-old male patient)

Difficulty understanding/‌communicating (n = 15, 53.6%)

“And it’s hard to, like, get her attention back on what I’m trying to convey to her, or what I’m trying to ask her or get her to do. She can’t follow, like, two step directions. Um, I could tell her, like, let’s go to the bathroom and brush your teeth, like you start walking to the bathroom and then she throws her hands up and starts singing and turns around and walks the other way, it’s like she forgot what we were even doing.” (Caregiver of 8-year-old female)

Difficulty with self-care hygiene (n = 14; 50.0%)

“You know, he just can’t control the hand there. Enough to - you know, put the toothbrush in his mouth, and like when I have to put his own deodorant on too, it takes, um, a minute or two cause, you know, his hand shake and under his armpit, or he can’t hold his other up long enough to, you know, to put the, um, deodorant on. Um, you know, as far buttoning is concerned, can’t button.” (Caregiver of 24-year-old male)

Greater dependence on caregivers for ADLs (n = 13; 46.4%)

“He has to have someone with him all the time. To h-to help him get up, to sit down, to- to do everything really whereas I- I don’t know if he remembers anyway but he, he was very independent.” (Caregiver of 28-year-old male)

Impact on school or work (n = 13; 46.4%)

“So it impacted him even at the elementary school level, um, with things like he couldn’t be a school patrol when he wanted to be. Um, and then, you know, later in middle school, he wanted to be like a part of a leadership team. And he just, the cognition isn’t there. So he, ‘cause he was a very outgoing personality but didn’t have the cognitive ability to follow through on the written portions and those kinds of things.” (Caregiver of 39-year-old male)

Difficulty moving indoors (n = 11; 39.3%)

“I walk very slowly. Um, and, so I- I, you know, when I- I’m going somewhere I do two or three things there. Like I’ll, uh, um, go the drinking fountain, go to printer, and go to the bathroom all at the same time at work. Instead of individuating them. Um, because that’s just more walking than I want to do.” (51-year-old female patient)

Difficulty with tasks outside the home (n = 10; 35.7%)

“It also impacts any kind of out of the house activities. So you know, a trip to the zoo is much more difficult at this point because of the walking that’s involved. Um, so anything out of the house becomes, um, more of a- a- a, planned kind of chore. Um, and so we kind of have to be mindful of that.” (Caregiver of 32-year-old male)