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, 120–122, 127, 135, 154], hereditary hemochromatosis [155], Pompe Disease [75, 131], mucopolysaccharidosis (MPS) II [32] |
| EQ-5D-5 L | 5 plus the VAS | MPS IVa [76, 90] | ||
| EQ-5D-3 L | 5 plus the VAS | Fabry disease [74], MPS [146], MPS II [77] | ||
| EQ-5 VAS | 1 | Fabry disease [129, 156], Wilson disease [157] | ||
| 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 | Galactosemia [79], PKU [93] |
| 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 [52–57, 87, 92, 107–111, 132, 141, 145, 147, 159–162], 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 [62–65, 102–105, 118, 167–169], 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 | 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 | IMDs [125], PKU [43] |
| 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 | Familial hypomagnesemia [85], MPS IH [36], MPS II [37] | |
| CHQ-CF87 | 87 | 5–18 | Fabry disease [82], MPS II [42] | |
| 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 | Fabry disease [40], MPS II [42] |
| 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 | 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] |
HrQoL tools were divided into 2 main categories: adult-oriented and pediatric instruments. They were then further classified into general and disease-specific tools. Abbreviations: AQOL-4D Assessment of Quality of Life 4D, ASL Argininosuccinate lyase, CHQ Child Health Questionnaire, CPS1 Carbamylphosphate synthase 1, GA1 Glutaric aciduria type I, GSD Glycogen storage disease, HHH Hyperammonemia-hyperomithinemia-homocitrullinuria, HUI Health Utilities Index, MELAS Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode, LC-FAOD Long-chain fatty acid oxidation disorders, MMA Methylmalonic acidemia, IVA Isovaleric acidemia, MPS Mucopolysaccharidosis, MSUD Maple syrup urine disease, NHP Nottingham Health Profile, OAs Organic acidurias, OTC Ornithine transcarbamylase, PA Propionic acidemia, PedsQL Pediatric Quality of Life inventory, PGWBI Psychological General Well-Being Index, PLC Profile for the Chronically ill, PKU-QOL Phenylketonuria-Quality of Life, SIP Sickness Impact Profile, SF-36 36-Item Short Form survey, TAAQOL TNO-AZL questionnaire for adult’s HrQoL, TACQOL TNO-AZL questionnaire for children’s HrQoL, TAPQOL TNOAZL questionnaire for preschool children’s HrQoL, UCDs Urea cycle disorders, VAS Visual analogue scale, VSP-A Vécu et Santé Percue de l’Adolescent, WHOQOL World Health Organization Quality of Life
*Only for children older than 18 months