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. 2014 Oct 25;9:159. doi: 10.1186/s13023-014-0159-8

Table 3.

Continuous outcomes in the reviewed studies

Reference CI of d
N Instrument Subscale ES 1 : Cohen's d Lower 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 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 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 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 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 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
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 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 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 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 Externalising problems 0.36 −0.44 to 1.17 ns
Total 0.64 −0.17 to 1.44 ns

1A positive value means that the IT-IEM group scored higher than the control group. A negative value means that the IT-IEM group scored lower than the control group. Higher values are favourable in all scales except for the BASC [28] where high scores mean more problems (exception: BASC subscale adaptive skills).

Abbreviations: ABAS (Adaptive Behavior Assessment System), BAI (Beck Anxiety Inventory), BASC (Behavior Assessment System for Children), BDI (Beck Depression Inventory), BYI (Beck Youth Inventory), CBCL (Child Behaviour Check List), KINDL (Revised questionnaire to assess health-related quality of life in children and adolescents), PedsQL (Pediatric Quality of Life Inventory), Vineland (Vineland Adaptive Behavior Scale), WHOQOL-100 (World Health Organization Quality of Life assessment).