Reference | Â | Â | Â | CI of d | Â | ||
---|---|---|---|---|---|---|---|
N | Instrument | Subscale | ES1: Cohen's d | Lower | Â | Upper | Sign. |
Health-related quality of life: self-report | |||||||
 |  |  | Compared to population norms | ||||
Cazzorla et al., 2012 [22] | WHOQOL-100 | General | n.a. | n.a. | to | n.a. | n.a. |
N = 15 | Â | Physical | 0.62 | 0.10 | to | 1.13 | * |
 |  | Psychological | 0.52 | 0.00 | to | 1.04 | ns |
 |  | Independence | n.a. | n.a. | to | n.a. | n.a. |
 |  | Social | -0.13 | -0.64 | to | 0.39 | ns |
 |  | Environmental | -2.43 | -2.97 | to | -1.89 | * |
 |  | Spiritual | n.a. | n.a. | to | n.a. | n.a. |
 |  | Medication | n.a. | n.a. | to | n.a. | n.a. |
 |  |  | Compared to PKU | ||||
 |  | General | 0.03 | -0.69 | to | 0.74 | ns |
 |  | Physical | 0.16 | -0.56 | to | 0.88 | ns |
 |  | Psychological | 0.70 | -0.04 | to | 1.44 | ns |
 |  | Independence | -0.34 | -1.06 | to | 0.38 | ns |
 |  | Social | 0.14 | -0.58 | to | 0.85 | ns |
 |  | Environmental | 0.41 | -0.31 | to | 1.14 | ns |
 |  | Spiritual | 0.31 | -0.41 | to | 1.04 | ns |
 |  | Medication | 0.70 | -0.04 | to | 1.44 | ns |
 |  |  | Compared to Morbus Fabry | ||||
 |  | General | 1.15 | 0.35 | to | 1.95 | * |
 |  | Physical | 1.49 | 0.65 | to | 2.33 | * |
 |  | Psychological | 0.90 | 0.12 | to | 1.68 | * |
 |  | Independence | 1.11 | 0.31 | to | 1.90 | * |
 |  | Social | 0.70 | -0.06 | to | 1.47 | ns |
 |  | Environmental | 0.91 | 0.13 | to | 1.69 | * |
 |  | Spiritual | 1.07 | 0.28 | to | 1.87 | * |
 |  | Medication | -0.35 | -1.10 | to | 0.40 | ns |
 |  |  | Compared to IEM with pharmacological treatment | ||||
 |  | General | 0.92 | 0.27 | to | 1.56 | * |
 |  | Physical | 1.19 | 0.53 | to | 1.86 | * |
 |  | Psychological | 0.94 | 0.30 | to | 1.59 | * |
 |  | Independence | 0.74 | 0.11 | to | 1.38 | * |
 |  | Social | 0.16 | -0.46 | to | 0.78 | ns |
 |  | Environmental | 0.75 | 0.12 | to | 1.39 | * |
 |  | Spiritual | 0.90 | 0.25 | to | 1.54 | * |
 |  | Medication | -0.26 | -0.88 | to | 0.36 | ns |
 |  |  | Compared to population norms | ||||
Grünert et al., 2013 [26] | KINDL | Total | -0.34 | -0.81 | to | 0.12 | ns |
N = 18 | Â | Physical | -0.28 | -0.74 | to | 0.19 | ns |
 |  | Psychological | -0.78 | -1.25 | to | -0.32 | * |
 |  | Self-esteem | 0.15 | -0.32 | to | 0.63 | ns |
 |  | Family | -0.38 | -0.84 | to | 0.09 | ns |
 |  | Friends | -0.68 | -1.14 | to | -0.21 | * |
 |  | School | 0.73 | 0.22 | to | 1.24 | * |
 |  | Illness | n.a. | n.a. | to | n.a. | n.a. |
 |  |  | Compared to healthy population norms | ||||
Packman et al., 2007 [28] | PedsQL self-report | Physical function | -0.28 | -0.69 | to | 0.13 | ns |
N = 55 | Â | Emotional function | -0.55 | -0.96 | to | -0.14 | * |
 |  | Social function | -0.80 | -1.22 | to | -0.39 | * |
 |  | School function | -0.70 | -1.12 | to | -0.29 | * |
 |  | Psychosocial | -0.85 | -1.27 | to | -0.44 | * |
 |  | Total | -0.77 | -1.19 | to | -0.36 | * |
 |  |  | Compared to cancer population norms | ||||
 |  | Physical function | 0.42 | 0.00 | to | 0.84 | ns |
 |  | Emotional function | -0.04 | -0.46 | to | 0.38 | ns |
 |  | Social function | -0.24 | -0.66 | to | 0.19 | ns |
 |  | School function | -0.24 | -0.67 | to | 0.18 | ns |
 |  | Psychosocial | -0.23 | -0.65 | to | 0.19 | ns |
 |  | Total | -0.02 | -0.44 | to | 0.40 | ns |
Health-related quality of life: proxy-report | |||||||
 |  |  | Compared to CMD | ||||
Eminoglu et al., 2013 [23] | QOL scale for metabolic disease | Impact of IEM | -0.18 | -1.02 | to | 0.67 | ns |
N = 14 | Attention | -0.42 | -1.15 | to | 0.31 | ns | |
 | Self-esteem about IEM | 0.03 | -0.70 | to | 0.76 | ns | |
 |  | Physical function | -0.65 | -1.38 | to | 0.08 | ns |
 |  | Labeling | -0.57 | -1.41 | to | 0.27 | ns |
 |  | Social support | 0.17 | -0.69 | to | 1.03 | ns |
 |  | School status | -0.93 | -1.77 | to | -0.09 | * |
 |  | Health perception | -1.69 | -2.64 | to | -0.74 | * |
 | KINDL | Emotional wellbeing | -0.44 | -1.07 | to | 0.19 | ns |
 |  |  | Compared to AMD | ||||
 | QOL scale for metabolic disease | Impact of IEM | -0.24 | -1.18 | to | 0.69 | ns |
 | Attention | -0.64 | -1.43 | to | 0.16 | ns | |
 | Self-esteem about IEM | -0.45 | -1.26 | to | 0.36 | ns | |
 |  | Physical function | -1.14 | -1.96 | to | -0.33 | * |
 |  | Labeling | -0.15 | -1.02 | to | 0.71 | ns |
 |  | Social support | -0.55 | -1.47 | to | 0.38 | ns |
 |  | School status | -1.41 | -2.41 | to | -0.40 | * |
 |  | Health perception | -1.67 | -2.70 | to | -0.64 | * |
 | KINDL | Emotional wellbeing | -0.20 | -0.88 | to | 0.48 | ns |
 |  |  | Compared to population norms | ||||
 | QOL scale for metabolic disease |  | n.a. | n.a. | to | n.a. | n.a. |
 | KINDL |  | n.a. | n.a. | to | n.a. | n.a. |
 |  |  | Compared to healthy population norms | ||||
Packman et al., 2007 [28] | PedsQL proxy-report | Physical function | -1.14 | -1.54 | to | -0.74 | * |
N = 55 | Â | Emotional function | -1.19 | -1.59 | to | -0.80 | * |
 |  | Social function | -1.48 | -1.88 | to | -1.08 | * |
 |  | School function | -1.46 | -1.86 | to | -1.06 | * |
 |  | Psychosocial | -1.66 | -2.06 | to | -1.26 | * |
 |  | Total | -1.65 | -2.05 | to | -1.25 | * |
 |  |  | Compared to cancer population norms | ||||
 |  | Physical function | -0.06 | -0.46 | to | 0.34 | ns |
 |  | Emotional function | -0.23 | -0.63 | to | 0.17 | ns |
 |  | Social function | -0.65 | -1.05 | to | -0.25 | * |
 |  | School function | -0.39 | -0.80 | to | 0.01 | ns |
 |  | Psychosocial | -0.54 | -0.94 | to | -0.14 | * |
 |  | Total | -0.40 | -0.80 | to | 0.00 | ns |
Psychological adjustment and adaptive functioning: self-report | |||||||
 |  |  | Compared to population norms | ||||
Muelly et al., 2013 [24] | BDI/BYI | BDI score adults | 0.54 | -0.02 | to | 1.11 | ns |
N = 26 | Â | BYI T-score | -0.44 | -1.01 | to | 0.12 | ns |
 |  | Combined z-score | 0.19 | -0.36 | to | 0.75 | ns |
 | BAI/BYI | BAI score adults | 0.38 | -0.18 | to | 0.94 | ns |
 |  | BYI T-score | -0.28 | -0.83 | to | 0.28 | ns |
 |  | Combined z-score | 0.13 | -0.43 | to | 0.68 | ns |
 |  |  | Compared to population norms | ||||
Mazariegos et al., 2012 [20] | Vineland or ABAS | Total | -1.09 | -1.46 | to | -0.72 | * |
N = 31 | Â | Â | Â | Â | Â | Â | Â |
Psychological adjustment and adaptive functioning: proxy-report | |||||||
 |  |  | Compared to population norms | ||||
Beauchamp et al., 2009 [25] | CBCL | Internalising problems | -0.32 | -1.31 | to | 0.66 | ns |
N = 4 | Â | Externalising problems | -0.76 | -1.74 | to | 0.23 | ns |
 |  | Total | -1.32 | -2.31 | to | -0.34 | * |
 | ABAS | General score | -0.23 | -1.21 | to | 0.75 | ns |
 |  | Conceptual | -0.65 | -1.63 | to | 0.34 | ns |
 |  | Social | 0.84 | -0.14 | to | 1.82 | ns |
 |  | Practical | -0.50 | -1.48 | to | 0.48 | ns |
 |  |  | Neonatal onset vs. population norms | ||||
Krivitzky et al., 2009 [27] | ABAS, age <3 y | General score | -0.35 | -0.83 | to | 0.13 | ns |
N = 92 | ABAS, age 3-16y | General score | -2.09 | -2.64 | to | -1.53 | * |
 |  |  | Late onset vs. population norms | ||||
 | ABAS, age <3 y | General score | -0.67 | -1.42 | to | 0.07 | ns |
 | ABAS, age 3-16y | General score | -0.76 | -1.04 | to | -0.47 | * |
 |  |  | Hyp.amm. events > 0 vs. population norms | ||||
 | ABAS, age <3 y | General score | -0.37 | -0.88 | to | -0.37 | * |
 | ABAS, age 3-16y | General score | -1.00 | -1.33 | to | -0.99 | * |
 |  |  | Hyp.amm. events =0 vs. population norms | ||||
 | ABAS, age <3 y | General score | -0.55 | -1.20 | to | 0.11 | ns |
 | ABAS, age 3-16y | General score | -0.96 | -1.36 | to | -0.56 | * |
 |  |  | Compared to population norms | ||||
Packman et al., 2007 [28] | BASC parent-report | Hyperactivity | 0.26 | -0.03 | to | 0.55 | ns |
N = 55 | Â | Aggression | 0.24 | -0.04 | to | 0.53 | ns |
 |  | Conduct problems | 0.03 | -0.25 | to | 0.32 | ns |
 |  | Anxiety | 0.05 | -0.24 | to | 0.34 | ns |
 |  | Depression | 0.08 | -0.21 | to | 0.36 | ns |
 |  | Somatization | 0.21 | -0.08 | to | 0.50 | ns |
 |  | Atypicality | 0.30 | 0.01 | to | 0.59 | * |
 |  | Withdrawal | 0.04 | -0.24 | to | 0.33 | ns |
 |  | Attention problems | 0.68 | 0.39 | to | 0.97 | * |
 |  | Externalising problems | 0.21 | -0.08 | to | 0.50 | ns |
 |  | Internalising problems | 0.14 | -0.15 | to | 0.43 | ns |
 |  | Behavioral sympt. index | 0.37 | 0.08 | to | 0.66 | * |
 |  | Adaptive skills | -0.59 | -0.88 | to | -0.30 | * |
 |  |  | Compared to population norms | ||||
 | BASC teacher-report | Hyperactivity | 0.41 | 0.07 | to | 0.76 | * |
 |  | Aggression | 0.28 | -0.07 | to | 0.62 | ns |
 |  | Conduct problems | -0.18 | -0.52 | to | 0.16 | ns |
 |  | Anxiety | 0.55 | 0.20 | to | 0.89 | * |
 |  | Depression | 0.11 | -0.23 | to | 0.45 | ns |
 |  | Somatization | 0.66 | 0.32 | to | 1.01 | * |
 |  | Attention problems | 0.75 | 0.41 | to | 1.10 | * |
 |  | Learning problems | 0.74 | 0.39 | to | 1.08 | * |
 |  | Atypicality | 0.68 | 0.34 | to | 1.03 | * |
 |  | Withdrawal | 0.19 | -0.15 | to | 0.53 | ns |
 |  | Externalising problems | 0.23 | -0.12 | to | 0.57 | ns |
 |  | Internalising problems | 0.56 | 0.21 | to | 0.90 | * |
 |  | School problems | 0.76 | 0.42 | to | 1.11 | * |
 |  | Behavioral sympt. index | 0.62 | 0.28 | to | 0.97 | * |
 |  | Adaptive Skills | -0.36 | -0.71 | to | -0.02 | * |
 |  |  | Compared to population norms | ||||
Pohorecka et al., 2012 [29] | CBCL | Internalising problems | 1.14 | 0.44 | to | 1.84 | * |
N = 8 | Â | Externalising problems | 0.77 | 0.08 | to | 1.47 | * |
 |  | Withdrawn | 1.30 | 0.60 | to | 2.01 | * |
 |  | Somatic complaints | 1.19 | 0.49 | to | 1.90 | * |
 |  | Anxious depressed | 0.62 | -0.08 | to | 1.32 | ns |
 |  | Social problems | 1.52 | 0.82 | to | 2.23 | * |
 |  | Thought problems | 0.89 | 0.19 | to | 1.59 | * |
 |  | Attention problems | 1.15 | 0.45 | to | 1.86 | * |
 |  | Rule breaking behaviour | 1.07 | 0.37 | to | 1.77 | * |
 |  | Aggressive behaviour | 0.86 | 0.16 | to | 1.56 | * |
 |  |  | Compared to population norms | ||||
Simons et al., 2006 [21] | CBCL | Internalising problems | 0.79 | -0.02 | to | 1.59 | ns |
N = 11 | Â | Externalising problems | 0.36 | -0.44 | to | 1.17 | ns |
 |  | Total | 0.64 | -0.17 | to | 1.44 | ns |