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Table 3 Degree of DD/ID in patients with SSRIDDs

From: Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

Case ID

1

2

3

4

5

6

7

8

9

10

11

12

Total

Diagnosis

CSS

CSS

A-ID

CSS

CSS

CSS

CSS

CSS

CSS

CSS

CSS

NCBRS

 

Developmental quotient (DQ)a

Age at test (years)

1.9

4.4

2.4

2.7

0.75

2.4

3.2

4.6

5.3

ND

ND

3

 

Cognitive-adaptive

56.5

–

82.8

68.8

66.7

72.4

57.9

43.6

26.6

  

33.3

8/9

Language

34.8

20.8

75.9

53.1

55.6

41.4

42.1

38.2

–

  

16.7

9/9

Social-personal

47.8

34.0

75.9

62.5

55.6

51.7

47.4

40

–

  

16.7

9/9

Fine motor

69.6

58.5

75.9

75

44.4

69.0

57.9

40

–

  

41.7

9/9

Gross motor

65.2

37.7

69.0

68.8

44.4

58.6

52.6

38.2

42.2

  

66.7

10/10

Follow-up evaluation

Age (years)

3

6

3

4

6

3

3

6

8

1

15

3

 

Degree of ID

–

Mild

–

–

Moderate

–

–

Moderate

Moderate

–

Mild (IQ 69)

–

 

Age of walking alone (months)

18

20

19

23

24

24

24

20

ND

ND

ND

12

 

Language delay

No speech

No speech

Yes

Yes

Yes

No speech

Yes

Yes

Yes

Yes

Yes

No speech

12/12

Hyperactivity

No

Yes

No

No

Yes

Yes

No

Yes

No

No

No

No

4/12

Autistic features

No

Yes

No

No

No

No

No

No

No

No

No

No

1/12

Seizure

No

No

No

No

Yes

No

No

Yes

Yes

Yes

No

Yes

5/12

  1. DD, developmental delay; ID, intellectual disability; SSRIDDs, switch/sucrose nonfermenting complex-related intellectual disability disorders; CSS, Coffin–Siris syndrome; A-ID, ARID1B-related intellectual disability, NCBRS, Nicolaides–Baraitser syndrome; ND, no data
  2. aDQ was measured using the Korean infant and child development test (KICDT), and a score lower than 80 was regarded to indicate developmental delay