Table 1 HrQoL instruments used across IMDs as PROMs or ObsROMs
Instrument Name | Sub-scales | Item number | Target Group (years) | IMDs |
|---|---|---|---|---|
Adolescent- and adult-oriented instruments | ||||
General | ||||
15D | Mobility, vision, hearing, breathing, sleeping, eating, speech, excretion, usual activities, mental function, discomfort, depression, distress, vitality, sexual activity | 15 | > 16 | Familial hypercholesterolemia [95] |
AQOL-4D | Independent living (self-care, household tasks and mobility), relationships (friendships, isolation and family role), mental health (sleeping, worrying and pain) and senses (seeing, hearing and communication) | 12 | 15–19 (norm) | Hereditary haemochromatosis [144] |
EQ-5D | Mobility, self-care, usual activities, pain/discomfort, anxiety/depression | 5 plus the VAS | > 18 | Acute porphyrias [68], Fabry disease [52, 53, 88, 120,121,122, 127, 135, 154], hereditary hemochromatosis [155], Pompe Disease [75, 131], mucopolysaccharidosis (MPS) II [32] |
EQ-5D-5 L | 5 plus the VAS |  | ||
EQ-5D-3 L | 5 plus the VAS |  | ||
EQ-5 VAS | 1 | Â | ||
NHP | Energy level, pain, emotional reaction, sleep, social isolation, physical abilities, work, house tasks, social functioning, sex life, interests and hobbies, vacations. | 45 | > 16 | Pompe disease [119] |
PGWBI | Anxiety, depression, positive well-being, self-control, general health, vitality | 22 | > 18 | PKU [133] |
PLC | Emotional, practical and social impact, disease-specific symptoms, diet and therapeutic impact | 40 | Adolescents and adults | |
SIP-136 | Sleep and rest, eating, work, home management, recreation and pastimes, ambulation, mobility, body care and movement, social interaction, alertness behavior, emotional behavior, communication | 136 | Adolescents, adults and elderly | MELAS [69] |
SIP-68 | Somatic autonomy, mobility control, mobility range, social behaviour, emotional stability, psychological autonomy/communication | 68 | Adolescents, adults and elderly | Niemann-Pick disease type C [72] |
SF-36 | Physical functioning, role limitations due to physical health, body pain, general health, vitality, social functioning, role limitations due to emotional problems, and mental health. | 36 | > 14 | Acute porphyrias [68], carnitine palmitoyltransferase II deficiency [158], cystinuria [143], Fabry disease [52,53,54,55,56,57, 87, 92, 107,108,109,110,111, 132, 141, 145, 147, 159,160,161,162], familial hypercholesterolemia [95, 112], Gaucher disease [60, 61, 98, 99, 113, 114, 128, 163, 164], GSD type I [137], hereditary hemochromatosis [67, 155, 165], mevalonate kinase deficiency [66] McArdle disease [70, 100, 101], MELAS [69], MPS [35], MPS IV [71, 115], Niemann-Pick type B [47] and type C [72], PKU [89, 94, 166], Pompe disease [62,63,64,65, 102,103,104,105, 118, 167,168,168,169], Wilson disease [116, 140, 170], X-linked hypophosphatemia [73] |
SF-36-6D | Physical functioning, role limitations due to physical health, bodily pain, general health, vitality, social functioning, role limitations due to emotional problems, and mental health. | 11 | Â | Pompe disease [131] |
SF-12 | Physical functioning, role limitations, social functioning, pain, mental health, vitality | 12 | > 12 | Familial hypercholesterolemia [91], hypophosphatasia [80], LC-FAOD [38] |
TAAQOL | Gross motor functioning, fine motor functioning, cognition, sleep, pain, social contacts, daily activities, sex, vitality, happiness, depressive mood, anger | 45 | > 16 | Galactosemia [89], mevalonate kinase deficiency [66], PKU [46, 94] |
WHOQOL-100 | Vitality, psychological well-being, relationship with friends, leisure activities, relationship with parents, physical well-being, relationship with teachers, school, body image, relationship with medical staff. | 100 | > 18 | |
WHOQOL-BREF | Physical health, psychological health, social relationships, and environment | 26 | > 18 | Pompe disease [126], OAs, including MMA, PA, IVA and GA1; and UCDs, including CPS1 deficiency, citrullinemia type I, ASL deficiency, HHH syndrome and OTC deficiency [50], oculocutaneous albinism [81], Wilson disease [171] |
Specific | ||||
PKU-QOL Adult version | PKU symptoms, PKU in general (emotional, practical, social and overall impact), administration of Phe-free protein supplements, dietary protein restriction | 65 | > 18 | PKU [89] |
Pediatric instruments | ||||
General | ||||
CHQ | General health, physical functioning, role limitations due to emotional problems, role limitations due to physical health, body pain, behaviour, global behaviour, mental health, self-esteem, general health perceptions, emotional parental impact, time parental impact, family activities, family cohesion. |  | 5–18 | |
CHQ-CF87 | 87 | 5–18 | ||
CHQ-PF28 | 28 | 5–18 | PKU [89] | |
CHQ-PF50 | 50 | 5–18 | Fabry disease [40, 82], MPS II [42], Niemann-Pick type B [47], PKU [166] | |
DISABKIDS-37 | Independence, emotion, inclusion, exclusion, limitations, treatment | 37 | Children and adolescents with chronic diseases | PKU [46] |
HUI 2 | Sensation, mobility, emotion, cognition, self-care, pain, fertility | 15 (self) | > 5 | Fabry disease [40] |
HUI 3 | Vision, hearing, speech, ambulation, dexterity, emotion, cognition, pain | 15 (self) | > 5 | |
KIDSCREEN-27 | Walking/standing, Reach/grip, Sleeping, School/work, Activities and Breathing; and a satisfaction-with-function and a botheredness-with-function domains | 27 | 8–18 | MPS II [77] |
KINDL | Physical well-being, psychological well-being, autonomy and parents, peers & social support, school environment |  | 4–16 | PKU [44, 45], carbohydrate metabolism disorders including GSD, galactosemia, and fructose-1,6-bisphosphatase deficiency; OAs including MMA, PA, MSUD, 3-methylcrotonyl CoA carboxylase deficiency and 3-hydroxy-2-methylglutaryl CoA lyase deficiency; and amino acid metabolism disorders including PKU, alkaptonuria, homocystinuria and tyrosinemia [24] |
KiddyKINDL | 12: self 46: proxy | 4–6 or their parents | Propionic acidemia [97] | |
KidKINDL | 24 | 7–13 or their parents |  | |
KiddoKINDL | 24 | 14–17 or their parents |  | |
PedsQL | Physical, emotional, social and school functioning | 23 | 5–18 | PKU [43, 46, 50, 84, 89], OAs, including MMA, PA, IVA, GA1; UCDs, including CPS1 deficiency, citrullinemia type I, ASL deficiency, HHH syndrome and OTC deficiency [50], citrin deficiency [51], MPS [35], GSD type I [39], MSUD [48], nephropathic cystinosis [123], Fabry disease [83] |
PedsQL parent version | 23 | Parents of 2–18 years old patients | Batten disease [31], citrin deficiency [51], Fabry disease [83], GSD type I [39], MMA [34], MPS [35], MSUD [48], PKU [43, 46, 84], OAs, including MMA, PA, IVA, GA1; UCDs, including CPS1 deficiency, citrullinemia type I, ASL deficiency, HHH syndrome, OTC deficiency [50] and inborn errors of metabolism in general [33] | |
PODCI | Upper extremity function, transfers and mobility, physical function and sports, comfort (lack of pain), happiness, satisfaction, and expectations | 42 | 2–18 | MPS IVa [115] |
SF-10 | Physical functioning, role-physical, bodily pain, general health perceptions, vitality, social functioning, role emotional and mental health | 10 | 5–18 children’s parents | LC-FAOD [38] |
TACQOL | General physical functioning, motor functioning, autonomy, cognition, social contacts, positive mood, negative mood | 56 | 6–11 or their parents (parent form) | Cystinosis [86], familial hypercholesterolemia [96], galactosemia [89], PKU [30], MPS VI [49] |
TAPQOL | Stomach problems, skin problems, lung problems, sleeping problems, appetite, problem behaviour, positive mood, anxiety, liveliness, social functioning*, motor functioning* and communication* | 43 | Parents of 9 months-6 years children | Galactosemia [89] MPS VI [49] |
VSP-Ae | Gross motor functioning, fine motor functioning, cognition, sleep, pain, social contacts, daily activities, sex, vitality, happiness, depressive mood, anger | 38 | 8–10 | OAs, UCDs, MSUD [41] |
VSP-A | Physical functioning, motor functioning, autonomy, cognitive functioning, social functioning, positive and negative emotional functioning | 39 | 11–17 | OAs, UCDs, MSUD [41] |
VSP-Ap | Symptoms, sleeping, appetite, motor functioning, behaviour, social functioning, communication, positive and negative emotional functioning | 37 | Parents of patients of all ages | OAs, UCDs, MSUD [41] |
Specific | ||||
PKU-QOL | PKU symptoms, PKU in general (emotional, practical, social and overall impact), administration of Phe-free protein supplements, dietary protein restriction | Â | Â | PKU [89] |
Child | 40 | 9–11 | ||
Adolescent | 58 | 12–17 | ||
Parent | 54 | PKU patients’ parents | ||
PKU-QOLQ | Impact, worries, satisfaction, support, well-being | NA | 10–18 | PKU [124] |
QoL Scale for Metabolic Diseases – Parent Form | Impact of disease, attention, perception of disease, physical function, stigmatization, social support, school status, and health perception | 28 | Parents of children (1–15) with a metabolic disorder treated with restrictive diet for at least 1 year | Carbohydrate metabolism disorders, including GSD, galactosemia, fructose-1,6-bisphosphatase deficiency; OA including MMA, PA, MSUD, 3- methylcrotonyl CoA carboxylase deficiency, 3-hydroxy-2-methylglutaryl CoA lyase deficiency; amino acid metabolism disorders including PKU, alkaptonuria, homocystinuria, tyrosinemia [24] |