TABLE III. Summary of QoL Studies and Selected Findings1.
Genetic condition | References | Study population (N, age, recruit source) | Study Design | QoL Scale2 | Selected Findings |
---|---|---|---|---|---|
Achondroplasia | Gollust et al. 2003a,b (USA) | 189 adults from support org. | XS | QLI | Individuals with achondroplasia had globally poorer QoL than their unaffected first-degree relatives |
In multivariate regression, affected status was only modestly signif. for total QoL (P= 0.039) and physical QoL (P= 0.024), and NS for the other three QoL domains | |||||
When controlling for demographics and affected status, greater perceived seriousness and lower self-esteem were strongly associated with poorer QoL in all domains | |||||
Charcot-Marie-Tooth disease | Padua et al. 2008a,b (Italy) | 98 adults/teens (14 y+) with CMT1A, clinic patients | L(2 y) | SF-36 | Globally poorer QoL compared to pop. norm |
QoL scores at baseline and 2 y follow-up were NS different | |||||
Clinical/neurophysiological features (e.g., ability to toe-walk, nerve conduction) associated with QoL scores in some physical health domains, few correlations with psychosocial QoL | |||||
Redmond et al. 2008 (Australia) | 295 adults with CMT1A and CMT2, from support org. | XS | SF-36 | Globally poorer QoL compared to pop. norm, NS differences in QoL between CMT types | |
Physical symptoms (e.g., leg weakness, cramps) associated with lower QoL in some domains | |||||
Vinci et al. 2005 (Italy) | 121 adults/teens (15 y+), clinic patients | XS | SF-36 | Globally poorer QoL compared to norm | |
Disease duration negatively associated with physical QoL (PCS) but not psychosocial QoL (MCS) | |||||
Teunissen et al. 2003 (The Netherlands) | 43 adults/teens with CMT2, clinic patients | L (5 y) | SF-36 | Signif. poorer QoL in most domains compared to pop. norm | |
In the longitudinal cohort (n = 27), NS change in any QoL domains over the 5-year period, although clinical status/disability had worsened | |||||
Congenital adrenal hyperplasia | Jaaskelainen and Voutilainen 2000 (Finland) | 32 adult clinic patients | XS | SF-36 | Greater QoL in physical and psychosocial domains compared to population norms |
Cystic fibrosis (CF) | Gee et al. 2003, 2005, Abbott et al. 2007, 2008 (UK) | 223 adult clinic patients | XS | CFQoL | Lung function signif. associated with QoL in most domains |
Coping styles: higher optimism signif. associated with higher QoL, higher distraction signif. associated with lower QoL, hopefulness and avoidance NS associated with QoL | |||||
Britto et al. 2002, 2004, Arrington-Sanders et al. 2006 (USA) | 162 adults and children (5 y+), clinic patients | XS | SF-36 CHQ | Adults (n=48) had signif. poorer physical QoL compared to pop. norm, but NS differences in psychosocial QoL domains | |
Among children/adolescents (n = 114), parent-rated QoL was signif. poorer in all physical domains compared to norms, but only signif. difference in psychosocial domains was for self-esteem | |||||
Lung function NS correlated with QoL, but frequency of pulmonary exacerbations was signif. associated with poorer physical QoL | |||||
Parent-rated QoL was signif. poorer than child/adolescent self-rated QoL in physical domains, but NS different for psychosocial domains | |||||
Havermans et al. 2008 (Belgium) | 57 adult clinic patients | XS | CFQ | Lung function signif. negatively associated with QoL in some physical health domains | |
After controlling for lung function, anxiety and depression signif. associated with 6/12 psychosocial and 3/12 physical QoL domains | |||||
Palermo et al. 2006 (USA) | 46 children/adolescents (8–17 y), clinic patients | XS | CFQ | Pain signif. associated with QoL in physical health domains, NS for emotional or social domains | |
Riekert et al. 2007 (USA) | 76 adult clinic patients | XS | CFQ | Depression signif. associated with poorer QoL in all domains | |
Szyndler et al. 2005 (Australia) | 52 adolescents (12–18 y), clinic patients | XS | CFQ | Higher levels of psychopathology and lower optimism for the future signif. associated with poorer QoL in most domains | |
Family functioning characteristics signif. associated with QoL in some domains | |||||
Thomas et al. 2006 (Australia) | 162 children/adolescents (2–19 y), clinic patients | XS | PedsQL CFQ | Globally poorer QoL compared to norm | |
Lung function signif. negatively associated with some CFQ domains, NS with any PedsQL | |||||
Darier's and Hailey–Hailey diseases | Harris et al. 1996 (UK) | 201 adults/teens (13 y+), clinic patients | XS | DLQI | QoL was most negatively affected in the symptoms/feelings domain (highest score of all the domains); however, mean DLQI scores were within “small” to “moderate” effect range, indicating that the disease did not have a major negative impact on patients' QoL |
NS correlation between clinical severity and QoL; NS difference in QoL between disease groups (DD vs. HHD), despite differences in symptoms | |||||
Ehlers–Danlos syndrome | Berglund and Nordstrom 2001, Berglund et al. 2003 (Sweden) | 77 adults from support org. | XS | SIP | Globally poorer QoL compared to pop. norm |
Greater acceptance of disability and sense of coherence signif. associated with better QoL | |||||
Fabry disease | Miners et al. 2002 (UK) | 38 male adult clinic patients | XS | SF-36 | Globally poorer QoL compared to male pop. norm |
Compared to patients with severe hemophilia [Miners et al., 1999], Fabry patients had signif. poorer psychosocial QoL (MCS), but physical QoL (PCS) NS different | |||||
Ries et al. 2005 (USA) | 25 male children and adolescents (6–18 y), clinic patients | XS | CHQ | Among children (n = 9), parent-rated QoL was poorer than norms in all domains, but differences were statistically signif. for two domains | |
Teens (n = 15, self-report) had signif. more pain (lower QoL) and better QoL in behavior, social, and emotional domains than norm | |||||
Street et al. 2006 (USA) | 202 adult female heterozygotes, from support org. and clinic | XS | SF-36 | Globally poorer QoL compared to female pop. norm | |
Familial dysautonomia | Sands et al. 2006 (USA) | 145 adults and children (4 y+), clinic patients | XS | SF-36 CHQ | Among adults (n = 74), NS differences in QoL than pop. norm |
Among children (n = 71), parent-rated QoL was signif. poorer in all physical domains and 2/4 psychosocial domains compared to norm; physical and psychosocial summary scores were also significantly poorer than children with various other chronic medical conditions | |||||
Friedrich Ataxia | Epstein et al. 2008 (USA) | 130 adult clinic patients | XS | SF-36 | Compared to age/sex-matched control group and to pop. norm, patients had signif. poorer QoL in all domains except RE and MCS (NS differences) |
Disease duration and clinical severity (neurological impairment) signif. associated only with PF domain; disability signif. associated with PF and GH domains | |||||
Wilson et al. 2007 (Australia) | 63 adult clinic patients | XS | SF-36 | Globally poorer QoL compared to pop. norm, physical worse than psychosocial QoL | |
Clinical severity (neurological impairment) signif. associated with only PF domain | |||||
After controlling for severity and disease duration, age of onset was signif. associated with QoL in some domains, with adult-onset patients having lower QoL than patients whose disease began <18 y | |||||
In multivariate regression, age of onset and severity were strongest predictors of PCS, whereas disease duration was the only factor signif. associated with MCS | |||||
Galactosemia | Bosch et al. 2004 (The Netherlands) | 63 adults and children (1 y+), from support org. | XS | TAPQoL TACQoL TAAQoL | For all age groups, trend towards poorer QoL in most domains compared to healthy norms, but differences were statistically significant only in some domains (small sample sizes: n = 17 adults, n = 25 children/adolescents, n = 22 young children) |
Gaucher disease | Damiano et al. 1998 (USA) | 212 adults/teens (14 y+) on enzyme replacement therapy, clinic patients | XS | SF-36 | Signif. poorer QoL in physical domains compared to norm, NS differences for psychosocial domains |
Ageing and clinical status (e.g., joint replacement, splenectomy) signif. associated with poorer QoL in some domains | |||||
Glycogen storage disease type 1 | Storch et al. 2008 (USA) | 29 children/adolescents (6–18 y), clinic patients | XS | PedsQL | Compared to healthy control group, patients had signif. lower QoL in physical and social domains, NS differences in emotional and school domains |
Compared to sample of children with various chronic medical conditions, NS differences in QoL | |||||
Hemophilia and coagulation disorders | Miners et al. 1999 (UK) | 164 male adult clinic patients | XS | SF-36 | Hemophilia patients had signif. worse QoL than pop. norm in physical domains, but NS differences in psychosocial domains |
Compared to patients with mild/moderate disease, patients with severe hemophilia had signif. poorer physical QoL, NS differences in psychosocial domains | |||||
Tusell et al. 2002 (Spain) | 70 male adults with severe hemophilia, clinic patients | XS | SF-36 | Signif. poorer QoL than pop. norm in all domains except mental health and emotional role-functioning | |
Walsh et al. 2008 (Canada) | 47 male adults with mild hemophilia A from same kindred, identified through population survey | XS | SF-36 | Compared to control cohort of unaffected age-matched male relatives, affected males had significantly poorer QoL in GH and RE domains, trend towards poorer QoL in all other domains | |
In multivariate regression analysis, clinical status/symptoms (heart disease and joint damage) were signif. predictors of PCS, but affected status was NS (suggests that the difference in physical QoL between hemophilia and control is largely explained by heart disease and joint damage, rather than hemophilia itself) | |||||
Solovieva 2001, Solovieva et al. 2004 (Finland) | 164 adults with hemophilia, von Willebrand disease, and Factor XIII deficiency, clinic patients | L(3 y) | SF-36 | Signif. poorer physical QoL and greater mental QoL than healthy control group | |
NS change in QoL in most domains between baseline and 3-year follow-up | |||||
In multivariate regression analysis, patients with severe disease and/or whose disease severity increased were more likely to have reduction in QoL over time | |||||
Hereditary hemorrhagic telangiectasia | Geisthoff et al. 2007 (Germany) | 77 adults/teens (13 y+), clinic patients | XS | SF-36 | Signif. poorer QoL in all domains except pain compared to pop. norm |
Clinical symptoms (e.g., epistaxis) signif. correlated with some QoL domains | |||||
Greater perceived consequences (strain on profession, private life, and psyche) and worries about HHT signif. associated with lower QoL in all domains (P < 0.05) | |||||
Pasculli et al. 2004 (Italy) | 50 adult clinic patients | XS | SF-36 | Poorer QoL in all domains except pain than pop. norm | |
Clinical symptoms (e.g., epistaxis) signif. associated with PCS but not MCS | |||||
Huntington disease | Helder et al. 2001, 2002 (The Netherlands) | 77 adults recruited from clinic and support org. | XS | SF-36 SIP | As assessed by the SIP: QoL was globally poorer than pop. norm Psychosocial aspects impacted to a greater extent than physical aspects Cognitive/motor functioning and disease duration predicted a signif. amount of variance in physical SIP but not psychosocial SIP |
As assessed by the SF-36, QoL was signif. poorer in most physical health domains, but NS differences for psychosocial domains; After controlling for demographics and illness-related variables, coping and illness perceptions predicted signif. amount of variance in QoL | |||||
Coping: “acceptance” positively associated with mental health QoL domain; venting of emotions, behavioral and mental disengagement were negatively associated with QoL | |||||
Illness identity and “cure” perceptions associated with some QoL domains | |||||
Hyperimmunoglobulinemia type D | van der Hilst et al. 2008 (International) | 28 adult clinic patients | XS | SF-36 | Poorer QoL in some domains than pop. norm Symptoms (frequency of attacks) signif. associated with physical QoL, NS psychosocial QoL |
Marfan syndrome | Peters et al. 2002 (USA) | 174 adults recruited from clinic and support org. | XS | QLI | Individuals with Marfan syndrome had signif. poorer QoL in psychological/spiritual domain than patients with cardiovascular disease, NS difference in physical health/functioning domain |
Muscular dystrophies | Ahlstrom et al. 1994, Ahlstrom and Gunnarsson 1996, Ahlstrom and Sjoden Ahlstrom and Sjoden, 1996a, Natterlund et al. 2000, Bostrom et al. 2005 (Sweden) | 57 adults with various MD types, identified through general population survey | L (10 y) | SIP | Globally poorer QoL compared to pop. norm, greater impact (worst QoL) in physical dimension |
NS difference in QoL between types of MD, despite differences in physical disability | |||||
Disability signif. negatively associated with physical QoL and, to a lesser extent, psychosocial QoL | |||||
Coping strategies signif. associated with psychosocial and overall QoL, NS for physical QoL | |||||
Psychosocial well-being NS correlated with QoL | |||||
QoL signif. deteriorated over the 10-year period, physical QoL to a greater extent than psychosocial QoL | |||||
Disability signif. increased over time, whereas NS change in psychosocial well-being | |||||
Piccininni et al. 2004 (Italy) | 45 adults with various MD types, clinic patients | XS | SIP | Globally poor QoL (SIP scores in “clinically-significant impairment” range), QoL in physical dimension worse than psychosocial dimension | |
Disability signif. negatively associated with QoL | |||||
Higher psychological well-being signif. associated with better QoL | |||||
Anxiety and depression signif. negatively correlated with QoL | |||||
Grootenhuis et al. 2007 (The Netherlands) | 107 adults and children (8 y+) with various MD types, clinic patients | XS | TAAQoL TACQoL | Children (n = 18) and adolescents (n = 22) with MD had signif. poorer QoL on some domains, but signif. better QoL in the physical functioning domains compared to healthy norms for the same age group | |
Adults with MD (n = 67) had signif. poorer QoL on 8/12 domains compared to healthy norms | |||||
Clinical severity signif. negatively associated with fine motor functioning and social functioning domains of QoL among adults | |||||
Antonini et al. 2006 (Italy) | 20 adults with myotonic dystrophy, clinic patients | XS | SF-36 | Globally poorer QoL compared to healthy matched controls and pop. norm | |
Clinical severity signif. associated with poorer QoL in physical domains, NS for psychosocial QoL | |||||
Anxiety and depressive symptoms signif. associated with poorer QoL in RP and MH domains | |||||
Ford et al. 2006 (New Zealand) | 36 adults with various MD types, clinic patients | XS | SF-36 | QoL signif. poorer in physical health domains as compared to pop. norm, NS for psychosocial QoL | |
NS differences between patients with myotonic dystrophy versus other MD types | |||||
Neurofibromatosis type 1 | Graf et al. 2006 (Switzerland) | 46 children and adolescents (7–16 y), clinic patients | XS | TACQoL | Self-reported and proxy-reported QoL were signif. poorer than norm in the majority of domains |
Clinical severity and visibility signif. associated with poorer QoL in emotional domains | |||||
Family functioning: greater cohesion and lower conflict signif. associated with better QoL when rated by parents, NS relationships with child self-reported QoL | |||||
Family history: parents with NF1 rated their children's emotional QoL lower than did parents without NF1; family history was NS associated with children's self-reported QoL | |||||
Kodra et al. 2009 (Italy) | 129 adults clinic patients | XS | SF-36 Skindex | Significantly poorer QoL in all SF-36 domains than pop. norm | |
Impact of NF1 on QoL was greater for psychosocial aspects than physical health aspects | |||||
Visibility signif. associated with poorer skin-specific QoL (Skindex) on all domains, but NS associated with SF-36 scores | |||||
Krab et al. 2009 (The Netherlands) | 58 children and adolescents (7–17 y), clinic patients | XS | CHQ | Parent-rated QoL was signif. poorer than pop. norm in 6/8 domains | |
Adolescents (n = 43 self-report) had signif. better QoL in behavior domain than norm | |||||
Severity signif. associated with some QoL domains; visibility NS associated with QoL | |||||
Oostenbrink et al. 2007 (The Netherlands) | 34 young children (1–6 y), clinic patients | XS | ITQoL | Signif. poorer QoL in some domains compared to healthy reference sample | |
Visibility signif. negatively associated with health perceptions domain of QoL | |||||
Page et al. 2006 (USA) | 166 adults recruited from clinic and support organization | XS | SF-36 SkinDex | Signif. poorer QoL in all SF-36 domains than population norms; | |
Impact of NF1 on QoL was greater for psychosocial aspects than physical health aspects | |||||
Visibility signif. associated with poorer skin-specific QoL (Skindex) on all domains, but NS associated with SF-36 scores | |||||
Clinical severity signif. associated with poorer QoL in all SF-36 domains and 2/3 Skindex domains (functioning and physical symptoms, NS emotional symptoms) | |||||
Wolkenstein et al. 2001 (France) | 128 adult clinic patients | XS | SF-36 SkinDex | Signif. poorer QoL in all SF-36 domains than population norms | |
Impact of NF1 on QoL was greater for psychosocial aspects than physical health aspects | |||||
Visibility signif. associated with poorer QoL on all Skindex domains and most SF-36 domains | |||||
Clinical severity signif. associated with poorer QoL in some SF-36 domains, but NS associated with Skindex scores | |||||
Wolkenstein et al. 2009 (France) | 79 children and adolescents (8–16 y), clinic patients | XS | DISABKIDS CDLQI | Using DISABKIDS, impact on total QoL was greater (i.e., worse QoL) for NF1 than for asthma | |
Using the CDLQI, impact on QoL was lower for NF1 (i.e., better QoL) than for other skin diseases (psoriasis, eczema, acne) | |||||
Disease complications/symptoms signif. associated with greater impact (lower QoL) | |||||
Osteogenesis imperfecta | Widmann et al. 2002 (USA) | 30 adult clinic patients | XS | SF-36 | QoL signif. poorer in most physical health domains than norm, NS differences in psychosocial QoL |
Phenylketonuria | Landolt et al. 2002 (Switzerland) | 37 children/adolescents (3–18 y) on treatment, clinic patients | XS | TACQoL | As rated by parents, children/adolescents with PKU had signif. poorer QoL than norms in one psychosocial domain (positive emotional functioning), but NS differences in any other QoL domains |
Simon et al. 2008 (Germany) | 67 adult clinic patients on treatment | XS | PLC | No signif. differences in any QoL domains compared to pop. norm | |
Pompe disease | Hagemans et al. 2004 (International) | 210 adults from support org. | L (1 y) | SF-36 | Disability signif. associated with lower QoL in PF, SF, and RE domains |
Longer disease duration signif. associated with lower PF scores, but higher RP and MH scores | |||||
Mean QoL scores for the Dutch subgroup (n = 51) were signif. lower than population norms for 3/4 physical health and 2/4 mental health domains; NS differences for BP, RE, and MH | |||||
In the Dutch cohort who were followed longitudinally (n = 38), no signif. change in QoL over the 1 y follow-up period, even among those who reported physical deterioration | |||||
Porphyria | Holme et al. 2006 (UK) | 220 adults and children (5 y+) with erythropoietic protoporphyria, clinic patients | XS | DLQI CDLQI | For both adults and children, QoL was markedly impaired (mean DLQI/CDLQI scores were within the “very large effect” range) |
Clinical severity signif. associated with QoL | |||||
Millward et al. 2001 (UK) | 81 adults with acute porphyrias, clinic patients | XS | MOS | Globally poorer QoL compared to pop. norm | |
Patients manifesting symptoms had signif. lower QoL than patients without symptoms (latent) | |||||
Patients with acute intermittent porphyria had more pain and poorer social functioning than patients with other types (variegate porphyria and hereditary coproporphyria) | |||||
Prader–Willi syndrome | Caliandro et al. 2007 (Italy) | 29 adults and children (5 y+), clinic patients | XS | SF-36 CHQ | Compared to pop. norm, adults and children had signif. poorer QoL in most domains |
Sickle cell disease | McClish et al. 2005 (USA) | 308 adult clinic patients | XS | SF-36 | Patients with sickle cell had signif. poorer QoL in all domains except mental health, as compared to population norms and patients with cystic fibrosis |
Pain signif. negatively associated with QoL in all domains except mental health | |||||
Palermo et al. 2002 (USA) | 58 children/adolescents (5–18 y), clinic patients | XS | CHQ | Globally poorer QoL than healthy controls | |
Disease complications negatively | |||||
associated with physical QoL, but NS with psychosocial QoL | |||||
Panepinto et al. 2005 (USA) | 99 children and adolescents (5–18 y), clinic patients | XS | CHQ | Parent-rated QoL was signif. poorer than norm in physical and psychosocial domains | |
Adolescents (n = 53) self-rated their QoL as signif. poorer than norms in physical domains, but NS different in psychosocial domains | |||||
QoL as rated by parents tended to be lower than adolescents' self-reported QoL | |||||
Disease complications (number of crises) was signif. negatively correlated with physical QoL | |||||
Turner syndrome | Carel et al. 2005 (France) | 568 adult females treated with growth hormone, clinic patients | XS | SF-36 | NS differences in any QoL domains compared to reference sample |
Psychological distress signif. correlated with lower QoL (women with symptoms of psychological distress had signif. poorer QoL in all domains than those without symptoms) | |||||
Height and other treatment-related variables NS associated with QoL | |||||
X-linked agammaglobulinemia | Howard et al. 2006 (USA) | 41 male adult clinic patients | XS | SF-12 | NS differences in QoL between patients and pop norms, except GH domain |
Lung disease signif. associated with lower MCS scores, but NS difference in PCS | |||||
Winkelstein et al. 2008 (USA) | 25 male adult clinic patients | XS | SF-12 | Trend towards lower QoL among patients than pop norms, but NS |
Abbreviations used in Table III: support org., support organization; signif., significant; NS, not significant; y, years; XS, cross-sectional; L, longitudinal; pop. norm, population norm; PCS, physical component score; MCS, mental component score; PF, physical functioning; RP, role physical; BP, bodily pain; VT, vitality; MH, mental health; GH, general health perceptions; RE, role emotional; SF, social functioning.
See Table V QoL scale abbreviations.