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Table 1 HrQoL instruments used across IMDs as PROMs or ObsROMs

From: Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

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   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 [52,53,54,55,56,57, 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   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]
  1. 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
  2. *Only for children older than 18 months