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] |