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Table 4 Cognitive/psychiatric defects in our cohort of patients

From: CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Cognitive impairment: type

Cases with CNS structural abnormalities % (n°)

Cases without CNS structural abnormalities % (n°)

Total number of cases % (n°)

Mild MI/borderline intelligence:

32.79 (20/61)

37.5 (3/8)

33.33 (23/69)

Moderate/severe MI

11.47 (7/61)

0 (0/8)

10.14 (7/69)

MI (severity not specified):

14.75 (9/61)

12.5 (1/8)

14.49 (10/69)

Total

59.02 (36/61)

50 (4/8)

57.97 (40/69)

Selective cognitive impairment:

4.92 (3/61)

50 (4/8)

10.14 (7/69)

 i) language disorders

3.28 (2/61)

0 (0/8)

2.9 (2/69)

 ii) learning difficulties

1.64 (1/61)

37.5 (3/8)

5.8 (4/69)

 iii) memory problems

0 (0/61)

12.5 (1/8)

1.45 (1/69)

Total (MI + selective cognitive impairment)

63.93 (39/61)

100 (8/8)

68.12 (47/69)

 • Clinical assessment

34.43 (21/61)

37.5 (3/8)

34.78 (24/69)

 • Specific testing

29.51 (18/61)

62.5 (5/8)

33.33 (23/69)

Psychiatric disorders: type

   

ADHD

1.59 (1/61)

12.5 (1/8)

2.9 (2/69)

Bipolar disorders

1.59 (1/61)

0 (0/8)

1.45 (1/69)

Total

3.28 (2/61)

12.5 (1/8)

4.35 (3/69)

  1. MI: intellectual disability.