22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

Table 2 Group results for psychiatric measurements

	SCQ	SRS	Vineland-II				CASI-4R composite totals
	Total	Total	Communication	Daily Living	Socialization	Composite	ADHD	ASD	Schizo-affective	Behavior regulation	Depressive	Anxiety
ASD
mean	21.5^cd	76.6^cd	83.9^d	82.3^d	74.0^bcd	78.0^bcd	13.7^d	13.2^cd	3.3^d	4.8^d	2.3^d	4.4^d
SD	5.3	15.1	14.5	13.5	12.4	11.6	4.1	6.3	1.9	3.4	2.6	2.9
22q11.2DupS
mean	15.8^d	69.8^d	90.6^d	93.5^d	90.2^ad	88.8^ad	12.9^d	8.3^d	2.8	4.3	1.8^d	3.8^d
SD	10.9	19.8	17.8	21.6	21.0	19.1	5.9	8.2	1.6	3.8	2.1	3.3
22q11.2DS
mean	11.3^ad	66.6^ad	89.8^d	88.1^d	90.2^ad	87.0^ad	12.4^d	6.0^ad	2.3^d	4.6^d	2.2^d	4.6^d
SD	7.5	14.9	18.3	15.1	16.8	16.1	5.4	4.9	1.3	2.7	2.8	2.7
TDC
mean	1.7^abc	41.9^abc	113.1^abc	110.8^abc	114.0^abc	113.1^abc	3.9^abc	0.3^abc	0.2^ac	1.9^ac	0.3^abc	0.9^abc
SD	1.8	5.4	12.8	12.8	12.7	12.4	33.6	0.7	0.3	2.0	0.6	1.2

Measures: SCQ: Raw scores reported. Scores above 15 are strongly suggestive of ASD. SRS: Scores reported in T-scores with mean 50 and SD 10. Scores below 60 considered in normal range. CASI-4R: Total raw score for each symptom domain (created by averaging together related subdomains; see Supplemental materials for individual subscale mean scores). Vineland-II: Standard scores (mean 100 and SD 15); scores above 90 considered in the average range. Significantly different (p < 0.05) scores between groups on each measure are denoted by the following conventions:
^aThis value is significantly different from the ASD group’s value
^bThis value is significantly different from the 22q11.2DupS group’s value
^cThis value is significantly different from the 22q11.2DS group’s value
^dThis value is significantly different from the TDC group’s value
Abbreviations: ADHD attention-deficit/hyperactivity disorder, ASD autism spectrum disorder, CASI-4R Child and Adolescent Symptom Inventory-4R, SCQ Social Communication Questionnaire, SRS Social Responsiveness Scale, TDC typically developing controls, Vineland-II Vineland Adaptive Behavior Scales-II

ISSN: 2040-2392