Skip to main content

Table 4 Phenotypic comparisons of DYRK1A to idiopathic ASD

From: Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

 

Total DYRK1A sample (n = 61)

DYRK1A ascertained for ASD (n = 18)

SSC idiopathic ascertained for ASD (n = 1981)

Sig (total DYRK1A vs idio total)

SSC idiopathic ASD with IQ < 70 (n = 487)

Sig (total DYRK1A vs idio IQ < 70)

Phenotypic characteristic

N/total

%

N/total

%

N/total

%

 

N

%

 

Intellectual disability or Global Developmental Delay

60/61

98

18/18

100

487/1974

25

p < 0.001

487/487

100

–

Speech delay

61/61

100

18/18

100

1173/1981

59

p < 0.001

343/487

70

p < 0.001

Motor difficulties

52/53

98

18/18

100

963/1981

49

p < 0.001

253/487

52

p < 0.001

Microcephaly

58/61

95

16/18

89

31/1958

2

p < 0.001

10/485

2

p < 0.001

Feeding difficulties

51/54

94

16/18

89

386/1981

19

p < 0.001

112/487

15

p < 0.001

Vision abnormalities

34/42

81

16/18

67

355/1981

18

p < 0.001

60/487

12

p < 0.001

5+ symptoms

48/61

79

16/18

89

6/1981

0.30

–

5/487

1

–

  1. Frequency of core phenotypic features (included if reported in 75% or more cases) observed in total DYRK1A sample (Pub-SNV, UW-SNV, and Pub-CHR) compared to frequency of same features in those with DYRK1A mutations ascertained for ASD, a large sample of cases with idiopathic ASD from the Simons Simplex Collection (ascertained for ASD), and a subset of idiopathic cases with IQ < 70. Totals reflect those with complete data. Fisher’s exact tests used to compare total DYRK1A sample to both idiopathic samples on each phenotypic characteristic; all group differences significant, p < 0.001. Sig significance