Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

Table 3 Serum and CSF cholesterol and sterol levels

	M ± SD	Range	Age	Comm	DLS	Soc	Motor	ABC	NVIQ	VIQ	FSIQ	Anatomical severity
			r	r _p
Serum, mg/dL (n = 30)
Cholesterol	108.90 ± 32.39	(47–181)	−.19	.45*	.51**	.44*	.26	.53**	.45*	.23	.35	−.19
7-DHC	5.70 ± 4.93	(0.044–19.00)	.23	−.25	−.24	−.47**	−.51*	−.31	−.50**	−.30	−.48*	.23
8-DHC	5.48 ± 5.29	(0.14–28.00)	.11	−.14	−.07	−.29	−.29	−.16	−.36	−.23	−.35	.11
Ratio	0.11 ± 0.10	(0.0014–0.39)	.25	−.43*	−.44*	−.59**	−.62**	−.50**	−.65**	−.41*	−.62**	.38*
CSF, μg/mL (n = 26)
Cholesterol	1.83 ± 0.58	(0.96–3.66)	.02	−.07	−.13	.02	.03	−.06	.14	−.08	.07	−.19
7-DHC	0.034 ± 0.028	(0–0.097)	.47*	−.56**	−.54**	−.52**	−.68**	−.58**	−.52**	−.32	−.51*	.24
8-DHC	0.072 ± 0.043	(0.006–0.17)	.39*	−.48*	−.43*	−.32	−.47*	−.46*	−.40*	−.30	−.38	.18
Ratio	0.065 ± 0.046	(0.0028–0.15)	.38	−.53**	−.52**	−.51**	−.66**	−.57**	−.59**	−.34	−.56**	.32

Note: r = Pearson correlation; r _p = partial Pearson correlation, controlling for age. Ratio is the ratio of combined 7-DHC and 8-DHC, divided by cholesterol concentration. Sample sizes vary slightly due to missing data; missing n = 2 VIQ and n = 2 FSIQ. Vineland-II motor scores are available only through 7 years of age; thus, the sample size for serum correlations was n = 23 and for CSF correlations n = 22
*p < .05; **p < .01

ISSN: 1866-1955