Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

Table 6 Association between deletion size and phenotypic variables

Phenotypic variable	N	Deletion size	BCa confidence interval^a
Phenotypic variable	N	Deletion size	Lower	Upper
Number of dysmorphic features	32	0.474^b	0.145	0.738
Number of medical comorbidities	32	0.386^b	0.022	0.640
Nonverbal IQ estimate	29	−0.332	−0.640	0.112
Gross motor skills (Vineland)	31	−0.402^c	−0.728	0.036
Fine motor skills (Vineland)	31	−0.123	−0.473	0.254
Expressive language skills (Vineland)	32	−0.184	−0.531	0.199
Receptive language skills (Vineland)	32	−0.231	−0.553	0.154
Qualitative abnormalities in reciprocal social interactions (ADI-R)	30	0.466^b	0.073	0.723
Qualitative abnormalities in communication (ADI-R)	30	0.498^b	0.091	0.740
Restricted, repetitive, and stereotyped patterns of behavior (ADI-R)	30	−0.229	−0.592	0.214

^aBooststrap estimates and bias corrected and accelerated confidence intervals for Spearman rank order correlations; ^bsignificant at 0.05 level (two-tailed test) as confidence interval does not contain 0; ^capproached significance at 0.05 level (two-tailed test). ADI-R, Autism Diagnostic Interview-Revised; BCa, bias corrected and accelerated confidence intervals; IQ, intelligence quotient.

ISSN: 2040-2392