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Table 1 Clinical inputs of the model

From: A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom

Input Value Reference
DM care
 Median age of DM onset, years 6 Barrett et al. 1995 [2]
 Proportion of patients managed by multiple daily injections 0.81 Diabetes UK, 2012 [7]
 Proportion of patients managed by continuous subcutaneous insulin infusions 0.19 Diabetes UK, 2012 [7]
 Prevalence of ketoacidosis 0.07 Rohayem et al. 2011 [8]
 Frequency of severe hypoglycaemia 0.37 Rohayem et al. 2011 [8]
 Proportion of patients with symptoms suggestive of coeliac disease 0.25 Tranebjaerg et al. 2013 [9]
DM complications
 Incidence of myocardial infarction 0.32 Pratoomsoot et la. 2009 [10]
 Incidence of angina 0.08 Pratoomsoot et la. 2009 [10]
 Incidence of congestive heart failure 0.24 Pratoomsoot et la. 2009 [10]
 Incidence of fatal stroke 0.04 Pratoomsoot et la. 2009 [10]
 Incidence of non-fatal stroke 0.08 Pratoomsoot et la. 2009 [10]
 Incidence of peripheral vascular disease 0.16 Pratoomsoot et la. 2009 [10]
 Incidence of end-stage renal disease 0.31 Pratoomsoot et la. 2009 [10]
 Incidence of proliferative diabetic retinopathy 0.33 Pratoomsoot et la. 2009 [10]
 Incidence of diabetic-induced cataract development 0.12 Pratoomsoot et la. 2009 [10]
 Incidence of neuropathy 0.90 Pratoomsoot et la. 2009 [10]
 Incidence of ulcer 0.47 Pratoomsoot et la. 2009 [10]
 Incidence of major hypoglycaemic event (severe hypoglycaemia) 0.14 Pratoomsoot et la. 2009 [10]
DI and other endocrine disorders care
 Median age of DI onset, years 16 Barrett et al. 1995 [2]
 Proportion of patients with DI 0.72 Barrett et al. 1995 [2]
 Proportion of patients with hypo- or hypergonadotropic hypogonadism 0.34 Rohayem et al. 2011 [8]
 Proportion of patient with hypogonadism, male 0.75 Tranebjaerg et al. 2013 [9]
 Proportion of patients with hypogonadism, female 0.25 Tranebjaerg et al. 2013 [9]
Visual impairment care
 Median age of OA onset, years 10.0 Barrett et al. 1995 [2]
 Median time to blindness, years 8.00 Barrett et al. 1995 [2]
 Proportion of patients developing cataracts 0.05 Chaussenot et al. 2011 [3]
Hearing impairment care
 Median age of hearing impairment onset, years 13 Barrett et al. 1995 [2]
 Median time from hearing impairment to severe hearing loss, years 12.0 Expert opinion (Professor Timothy Barrett), 2016
 Proportion of patients with SNHL 0.66 Barrett et al. 1995 [2]
 Proportion of patients with SNHL requiring cochlear implants 0.17 Karzon et al. 2013 [11]
Renal/neurogenic bladder care
 Median age of neurogenic bladder onset, years 15 Expert opinion (Professor Timothy Barrett), 2019
 Proportion of patients with neurogenic bladder 0.55 Barrett et al. 1995 [2]
 Proportion of patients with neurogenic bladder managed on clean intermittent self-catheterisation 0.31 Assumes all patients > 10 years old without visual impairment are able to self-catheterise
 Proportion of patients with neurogenic bladder managed on an indwelling catheter 0.69 Assumes all patients > 10 years old without visual impairment are able to self-catheterise
 Proportion developing symptomatic UTI, out of patients with neurogenic bladder 0.68 NCGC Infection prevention and control, 2012 [12]
 Proportion developing urethral complication, out of patients with neurogenic bladder 0.02 NCGC Infection prevention and control, 2012 [12]
 Proportion with first-line antibiotic resistant UTI, out of patients with neurogenic bladder 0.09 NCGC Infection prevention and control, 2012 [12]
 Proportion with multidrug resistant UTI, out of patients with neurogenic bladder 0.07 NCGC Infection prevention and control, 2012 [12]
 Proportion developing bacteraemia secondary to UTI, out of patients with neurogenic bladder 0.04 NCGC Infection prevention and control, 2012 [12]
Neurological care
 Median age of neurological symptom onset, years 15 Chaussenot et al. 2011 [3]
 Proportion of patients with truncal/gait ataxia 0.33 Barrett et al. 1995 [2]
 Proportion of patients with areflexia of the lower limb 0.20 Barrett et al. 1995 [2]
 Proportion of patients with severe startle myoclonus requiring wheelchair 0.04 Barrett et al. 1995 [2]
 Proportion of patients with central apnoeas 0.11 Barrett et al. 1995 [2]
 Proportion of patients with cerebellar dysarthria 0.11 Barrett et al. 1995 [2]
 Proportion of patients with autonomic neuropathy 0.09 Barrett et al. 1995 [2]
 Proportion of patients with hemiparesis 0.09 Barrett et al. 1995 [2]
Psychological care
 Median age at psychological/psychiatric disorder onset, years 14 Rohayem et al. 2011 [8]
 Proportion of patients with psychological/psychiatric disorders 0.60 Swift et al. 1990 [13]
 Proportion of patients with severe psychiatric disorders requiring hospitalisation 0.29 Swift et al. 1990 [13]
 Proportion of patients with learning difficulties 0.24 Rohayem et al. 2011 [8]
  1. Incidence estimates used in the model were calculated by adjusting cumulative incidence rates to incidence per patient per year. DI diabetes insipidus, DM diabetes mellitus, NCGC National Clinical Guideline Centre, OA optic atrophy, SNHL sensorineural hearing loss, UTI urinary tract infection