Skip to main content

Table 3 Continuous outcomes in the reviewed studies

From: Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review

Reference

   

CI of d

 

N

Instrument

Subscale

ES1: 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

  1. 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).
  2. 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).