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Table 1 Overview of impairments reported in outcome measures of cognitive functioning in ET AwPKU across studies

From: A systematic review of cognitive functioning in early treated adults with phenylketonuria

 

Discontinued Treatment

(Off-Diet)

Mixed Sample

(On Diet, Relaxed Diet, Off-Diet)

On-Diet

(* = Continuously Treated)

Total

Reference [#]

[37]

[36]

[38]

[35]

[48]

[34]

[33]

[47]

[49]

[11, 17, 46]

[55]

[56]

[52]

[37]

[45]

[39]

[38]

[40, 41, 43]

[42]

[44]

N (ET AwPKU)

24

25

56

12

46

49

24

38

14

37

57

25

57

23

20*

25*

21

55–57*

21*

9*

 

Attention & processing speed

 

 Attentional capacity

0/1

2/2e

   

0/1

3/4

  

4/10d

1/1

  

0/1

1/1

1/2d

    

11/20 k

 Vigilance/focus

1/1

    

1/1

0/1

  

1/1

  

1/1b

1/1

1/1

  

2/2

  

7/8 k

 Processing speed

  

1/1a

2/2

0/2

0/1

0/2

  

0/1

 

1/1

1/1b

   

0/1

  

0/1

5/12 k

Executive functions

 Complex EF

 

0/1

 

1/2

3/3

 

1/6

 

3/13

3/6

 

0/1

  

0/2

0/1

  

1/1f

 

12/35 k

 Inhibitory control

 

1/2d

   

1/1j

1/2

  

0/3

     

0/2

 

2/2

0/4

0/1

5/15 k

 Working memory

0/1

2/2e

 

0/2

1/1

2/2

2/2

  

2/3

   

0/1

1/1

1/2d

 

4/6g

  

14/20 k

 Verbal fluency

   

0/2

  

2/2

  

1/2h

    

1/1

     

4/8

Language

 Basic language skills: semantic processing

 

0/1

 

0/1

  

1/2

0/9

 

1/5d

     

0/1

    

2/18 k

 Complex language skills

      

0/2

7/21

 

3/7

    

0/1

     

10/31

Memory & learning

   

0/1

                 

 Immediate recall: verbal or visual

   

0/3

  

2/2c

  

0/3

          

2/8

 Delayed recall: verbal or visual

   

0/2

  

3/3

 

0/1

0/3

    

0/2

     

3/11

 Recognition: verbal or visual

   

0/1

  

1/1c

  

0/1

    

0/2

     

1/5

 Motor skills

    

1/1

 

0/2

  

2/2

3/4

       

1/1f

 

7/10

 Social-cognitive abilities

                 

2/2j

  

2/2

 Visual-spatial abilities

      

1/4

 

0/1

  

1/1

  

0/1

     

2/7

  1. aonly for off-diet ET AwPKU; b only for older (> 32) ET AwPKU; c Verbal memory/learning only; d significant differences observed in RT, not accuracy; e accuracy: different to controls, RT only different from on-diet ET AwPKU; f high-high PKU group worse performance than low-high PKU group (no controls included in analysis); g differences mainly observed in RT (only 1 measure of accuracy sign. different); h impairments in semantic, not letter fluency; i 1/2 disappeared when including age as covariate; no impairments observed when including IQ as a covariate; j only difference between < 720 and > 720 umol/L (no normative data available); k where off-diet and on-diet ET AwPKU reported separately, the total represents sum of outcome measures per paper, not row
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172