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Table 3 Phenotypic characteristics of DYRK1A

From: Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

 

Pub-SNV and UW-SNV (n = 42)

Pub-CHR (n = 19)

Total (n = 61)

 

Phenotypic characteristic

N

Total

%

N

Total

%

N

Total

%

Sig (Fisher’s exact tests)

Intellectual disability or Global Developmental Delay

41

42

98

19

19

100

60

61

98

NS

Speech delay

42

42

100

19

19

100

61

61

100

NS

Motor difficulties

38

38

100

14

15

93

52

53

98

NS

Microcephaly

39

42

93

19

19

100

58

61

95

NS

Feeding difficulties

37

40

93

14

14

100

51

54

94

NS

Vision abnormalities

26

33

79

8

9

89

34

42

81

NS

Seizures

26

39

67

16

19

84

42

58

72

NS

ASD diagnosis

16

35

46

2

7

29

18

42

43

NS

Stereotyped behaviors

22

36

61

4

9

44

26

45

58

NS

Anxious behaviors

11

36

31

1

8

13

12

44

27

NS

Hyperactive behaviors

10

35

29

4

8

50

14

43

33

NS

Behavioral differences

35

42

83

7

19

37

42

61

69

NS

6+ symptoms including ASD

25

42

60

7

19

37

32

61

52

NS

6+ symptoms including broader behavioral difficulties

32

42

76

10

19

53

42

61

69

NS

  1. Frequency of phenotypic features in cases with disruptive SNVs (Pub-SNV and UW-SNV) to DYRK1A, published chromosomal rearrangements (Pub-CHR) to DYRK1A, and total combined cases. Totals reflect those with complete data. Groups did not significantly differ in gender ratio (Fisher’s exact test) or age (independent sample t test), p > 0.05. Fisher’s exact tests used for group comparisons, Sig significance, NS not significant