Table 3 Clinical care
From: The parent and family impact of CLN3 disease: an observational survey-based study
Time from first signs/symptoms to CLN3 disease diagnosis, mean years (SD) | 2.8 (4.1) | ||
Was a misdiagnosis ever given? | Yes 24 (55.8%) | No 19 (44.2%) | |
Most frequent misdiagnoses | Retinitis pigmentosa | 7 (16.3%) | |
Rod/cone dystrophy | 7 (16.3%) | ||
Stargardt disease | 5 (11.6%) | ||
Autism | 4 (9.3%) | ||
Schizophrenia | 2 (4.7%) | ||
Other (Meningitis, optic atrophy, sensory processing disorder, oppositional defiant disorder, epilepsy, mitochondrial disease, anxiety, Bardet Biedl syndrome) | 1 each (2.3%) | ||
Clinical tests performed after diagnosis | Eye exam | 23 (53.5%) | |
EEG | 23 (53.5%) | ||
MRI | 23 (53.5%) | ||
Bloodwork | 9 (20.9%) | ||
CT scan | 7 (16.3%) | ||
Genetic test | 5 (11.6%) | ||
Medications (related to CLN3 disease) used by ≥ 2 affected individuals | melatonin | 17 (39.5%) | |
levetiracetam | 11 (25.6%) | ||
valproic acid | 11 (25.6%) | ||
lamotrigine | 9 (21.0%) | ||
clobazam | 8 (18.6%) | ||
clonazepam, midazolam | 7 (16.3%) | ||
lorazepam | 6 (14.0%) | ||
quetiapine, sertraline, polyethylene glycol 3350 laxative | 5 (11.6%) | ||
diazepam, trazodone, zonisamide | 4 (9.3%) | ||
aripiprazole, lorazepam, baclofen, clonidine, divalproex sodium, ibuprofen, midazolam, fluoxetine, sertraline, vitamin D | 3 (7.0%) | ||
albuterol, cyproheptadine, domperidone, fluticasone, gabapentin, Gaviscon®, hydroxyzine, pregabalin, methadone, morphine, multivitamin, omeprazole, paracetamol, phenobarbital, risperidone, topiramate, trazadone, ondansetron | 2 (4.7%) | ||