. Author manuscript; available in PMC: 2014 Jul 21.

Published in final edited form as: Hum Genet. 2011 Oct 15;131(4):581–589. doi: 10.1007/s00439-011-1106-6

Table 3.

Prevalence of seizures, autism, and ASD in those with the premutation compared with conservative population prevalence estimates from recent national surveys in the US

Variable	Value^a	P = population estimate^b	B = non-proband		C = proband		BC = non-proband and proband		p value^c

		Percent	Frequency	Percent	Frequency	Percent	Frequency	Percent	B versus C	B versus P	C versus P	BC versus P
Seizures	1	1	0	0	7	28	7	14	0.0096^*	<0.0001^*	<0.0001^*	<0.0001^*
	0		25	100	18	72	43	86
Autistic disorder^d	1	1	1	4	8	32	9	18	0.0232^*	<0.0001^*	<0.0001^*	<0.0001^*
	0		24	96	17	68	41	82
ASD	1	1.7	7	28	17	68	24	48	0.0101^*	<0.0001^*	<0.0001^*	<0.0001^*
	0		18	72	8	32	26	52

Significant level at 0.05, adjusted for multiple testing

Value: 1 presence, 0 absence

Conservative population prevalence estimates—refer to Table 4 of prevalence estimates

Comparisons of observed frequency in proband, non-proband and combined group of the FMR1 premutation to conservative population prevalence estimates, except for B versus C which compares proportions between probands and non-probands

Autistic disorder did not include those with pervasive developmental disorders not otherwise specified (PDD-NOS) and Asperger’s syndrome