Table 4 Life impact of symptoms

What is the most important thing you wish your child could do, but can’t because of CLN3 disease?

First

(n = 43)

Second

(n = 41)

Decline in visual acuity

16 (37.2%)

“Normal life” – sports and leisure

7 (17.1%)

“Normal life”

5 (11.6%)

Normal cognition for age

5 (12.2%)

“Normal life” – sports and leisure

5 (11.6%)

Expressive communication, independence, “normal life” – socialization

4 each (9.8%)

“Normal life” – cognition

4 (9.3%)

Mental health, mobility, “normal life” – interpersonal relationships, decline in visual acuity

2 each (4.9%)

Expressive communication, “normal life” – socialization

2 each, (4.7%)

Family support, life without seizures, longer lifespan, mood regulation, “normal life” – independence, “normal life”– physical decline, “normal life” – stamina

1 each (2.4%)

Career aspirations, cognition, coping skills – mood, “normal life” – socialization/travel, “normal life” – lifespan, “normal life” – reading, “normal life” – lifespan/mobility, treated normally, play and leisure

1 each (2.3%)

What is the most important issue that you would like to see treated by a therapy?

First

(n = 43)

Second

(n = 43)

Third

(n = 40)

Maintain/improve vision

14 (32.6%)

Maintain/improve cognition

11 (25.6%)

Maintain/improve vision

9 (22.5%)

Stop disease progression

9 (20.9%)

Maintain/improve vision

10 (23.3%)

Maintain/improve mobility

7 (17.5%)

Maintain/improve cognition

8 (18.6%)

Maintain/improve mobility

6 (14.0%)

Maintain/improve cognition

6 (15.0%)

Eliminate/reduce epilepsy/seizures, maintain/improve mobility

3 each (7.0%)

Eliminate/reduce epilepsy/seizures

5 (11.6%)

Maintain improve speech

5 (12.5%)

Slow disease progression

2 (4.7%)

Maintain/improve speech

3 (7.0%)

Stop/reverse disease progression

4 (10%)

Improve speech, improve state of mind – loneliness and frustration, increase lifespan, prevent/improve anxiety attacks

1 each (2.3%)

Increase lifespan, slow disease progression

2 each (4.7%)

Improve behavior, eliminate/reduce epilepsy/seizures

2 each (5%)

Improve independence, provide hope, reduce/eliminate tremors

1 each (2.3%)

Provide hope, improve mood, improve sleep, prevent disease, provision of respite care

1 each (2.5%)