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

Table 2 Cognitive, adaptive behavior, and ASD status

ID	Sex	Hearing imp.	Age at visit	Anatomical severity	Age of walking	VABS-II ABC	NVIQ	VIQ	FSIQ	IQ test	ADOS class.	ADI-R class.	Clinical judgment
K01	M	--	7.13	11	n/a	32	42	43	40	SB	AUT	AUT	ASD
K04	M	--	8.67	22	48	29	10.1	12.0	11.1	MSEL	AUT	AUT	ASD
K05	F	N	17.53	17	60	19	9.5	8.1	8.8	MSEL	AUT	AUT	ASD
N09	M	N	23.27	11	24	61	66	68	66	SB	AUT	AUT	ASD
K12	M	N	9.08	6	18	71	56	77	65	SB	NS	NS	NS
K13	M	N	10.61	17	24	53	60	3.2	56	SB	AUT	NS	ASD
K18	F	N	12.02	22	48	34	42	43	40	SB	AUT	NS	ASD
K24	F	Y	7.58	11	24	50	46	--	--	SB	AUT	AUT	ASD
K25	F	--	10.08	11	12	60	60	49	52	SB	NS	NS	NS
K26	M	--	13.32	6	42	45	51	49	48	SB	AUT	AUT	ASD
K33	M	Y	5.58	33	n/a	43	33.6	17.9	25.8	MSEL	AUT	AUT	ASD
K34	M	--	5.68	11	22	32	17.6	8.8	13.2	MSEL	AUT	NS	ASD
N36	F	N	11.06	6	18	50	18.6	20.5	19.5	MSEL	AUT	AUT	NS
N45	M	Y	10.63	6	17	75	62	59	59	SB	NS	NS	NS
K55	F	--	4.41	11	15	69	53	56	52	SB	AUT	AUT	ASD
K56	F	N	6.09	6	30	78	74	93	83	SB	NS	NS	NS
N58	F	Y	8.05	22	n/a	72	60	56	56	SB	NS	NS	NS
K60	M	N	4.74	11	20	67	70	--	--	SB	AS	AUT	ASD
K61	M	Y	6.30	17	20	63	66	59	61	SB	NS	NS	NS
K62	F	Y	10.30	11	28	54	59	1.8	51	SB	AUT	NS	NS
K63	F	--	5.41	22	54	36	20.8	18.5	19.7	MSEL	AUT	AUT	ASD
K64	M	N	4.03	6	17	66	69	83	75	SB	AUT	NS	NS
K66	M	Y	4.08	11	18	72	103	86	94	SB	AUT	NS	NS
K68	F	Y	4.08	11	55	53	64	57	58	SB	AS	AUT	ASD
K70	M	--	13.25	11	21	25	15.1	12.6	13.9	MSEL	AUT	NS	ASD
N71	M	--	4.97	17	36	62	53.4	55.1	54.2	MSEL	NS	AUT	NS
N72	M	--	9.73	11	18	60	43	43	40	SB	AS	AUT	ASD
K73	M	N	6.96	6	30	31	22.3	10.8	16.6	MSEL	AUT	AUT	ASD
N78	F	--	20.99	17	36	36	42	43	40	SB	AS	AUT	NS
N79	F	--	13.63	22	96	37	11.7	8.3	10.0	MSEL	AUT	AUT	NS
N86	F	N	3.95	6	24	70	58.5	29.8	44.1	MSEL	NS	NS	NS
N87	M	N	7.49	6	24	61	37.6	31.5	34.6	MSEL	NS	AUT	ASD
N97	M	--	5.49	11	23	63	43.8	42.3	43.1	MSEL	AUT	AUT	NS

Note. ID indicates site; those beginning with K were seen at the KKI, and those beginning with N were seen at the NIH. IQ with one decimal place indicates developmental quotient (mental age divided by chronological age) used, while scores with no decimal places indicate IQ used. Double dash (--) indicates missing data. Only one subject (N09) was on simvastatin at the time of evaluation. All subjects except N78, N79, and N87 were taking cholesterol supplementation at evaluation. n/a for age of walking indicates that the child was not yet walking at evaluation; ages are in months
Hearing imp hearing impairment, VABS-II ABC Vineland-II Adaptive Behavior Composite, NVIQ nonverbal IQ, VIQ verbal IQ, FSIQ full-scale IQ, ADOS Autism Diagnostic Observation Schedule, ADI-R Autism Diagnostic Interview, Revised, SB Stanford-Binet Intelligence Scales, MSEL Mullen Scales of Early Learning, NS nonspectrum, AS autism spectrum, AUT autism, ASD autism spectrum disorder

ISSN: 1866-1955