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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