Table 1

Intellectual level, autistic disorder, and infantile spasms in cases with characterised TSC1 and TSC2 mutations

CharacteristicTotal number TSC1 TSC2 χ2p
IS, infantile spasms.
*Familial plus sporadic cases; †Sporadic cases only.
IQ⩾70 (all cases)*4117 (77%)24 (34%)12.5<0.001
IQ<70 (all cases)*515 (23%)46 (66%)
IQ⩾70 (sporadics)†3411 (69%)23 (36%)5.60.018
IQ<70 (sporadics)†465 (31%)41 (64%)
No autistic disorder (all cases)*6219 (86%)43 (61%)4.740.030
Autistic disorder (all cases)*303 (14%)27 (39%)
No autistic disorder (sporadics)†5213 (81%)39 (61%)2.320.128
Autistic disorder (sporadics)†283 (19%)25 (39%)
No IS (all cases)*4416 (84%)28 (42%)10.320.001
IS (all cases)*413 (16%)38 (58%)
No IS (sporadics)†3510 (77%)25 (42%)5.320.021
IS (sporadics)†383 (23%)35 (58%)