Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

Table 5 Quantitative phenotype and group differences between DYRK1A, idiopathic, and CHD8 groups

	DYRK1A (UW-SNV)			SSC idiopathic subset			CHD8			t statistics DYRK1A vs SSC		t statistics DYRK1A vs CHD8		t statistics CHD8 vs SSC
Phenotypic characteristic	Mean	SD	N	Mean	SD	N	Mean	SD	N	t	d	t	d	t	d
Head circumference Z score	− 3.62	2.17	10	1.21	0.39	10	1.76	2.9	11	6.94*	3.10	6.49**	2.84	NS	–
Full-scale IQ	45.30	18.14	10	81.20	26.12	10	60.91	27.39	11	3.57*	1.60	NS	–	NS	–
Overall adaptive functioning	54.80	9.04	10	70.50	9.40	10	65.00	18.49	12	3.81*	1.70	NS	–	NS	–
Autism severity (ADOS CSS)	6.50	2.80	10	7.70	1.25	10	8.18	1.78	11	NS	–	NS	–	NS	–
Age walked unaided	19.70	5.64	10	13.22	2.59	10	18.50	4.38	12	NS	–	NS	–	NS	–
Age of first single words	45.14	22.82	7	17.50	7.92	10	25.17	28.01	12	NS	–	NS	–	NS	–

Descriptives for phenotypic variables commonly impaired in DYRK1A haploinsufficiency for three groups: DYRK1A (n = 10), SSC idiopathic subset randomly samples and matched on age and gender (n = 10), and CHD8 (n = 12). Group comparisons using independent sample t tests between (1) DYRK1A and SSC groups, (2) DYRK1A and CHD8 groups, and (3) CHD8 and SSC groups. *Significant differences between DYRK1A and idiopathic groups, p < 0.002; **Significant differences between DYRK1A and CHD8 groups, p < 0.001. Independent sample t and Cohen’s d values provided when significant, p value adjusted for multiple comparisons, NS not significant

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