Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1)

Table 1

Patients included in the present study.

Patient	Age	Epilepsy (Y/N)	Mutation	ISS before study
IGF-1 treated subjects
S1	4.7	Y	R270X (nonsense)	19
S2	4.8	Y	Del exons 3 and 4	21
S3	5.11	Y	R133C (missense)	18
S4	10.8	N	1155 del 12 + 1157 del 44 (frameshift)	20
S5	8.1	Y	T158M (missense)	21
S6	5.9	Y	C13ins in GCCGC in exon 1 (frameshift)	19
S7	9.49	Y	R306C	12
S8	4.46	N	T158M (missense)	14
S9	3.72	N	1096 del 89	12
S10	3.92	Y	1157 del46n	18
Untreated subjects
U1	2.19	N	C468G (missense)	—
U2	6.74	Y	P152R (missense)	17
U3	2.41	N	753 del C (frameshift)	12
U4	4.61	Y	R294X (nonsense)	16
U5	4.7	N	R270X (nonsense)	20
U6	12.06	Y	Y141X (nonsense)	7
U7	1.92	N	R106W (missense)	15
U8	2.66	Y	1085 del 183 (frameshift)	15
U9	3.09	N	R168X (nonsense)	18
U10	4.96	Y	T158M (missense)	21

Details of ten subjects treated with IGF-1 and ten untreated subjects included for analysis in the present study. Subjects treated with IGF-1 are numbered S1–S10 and untreated subjects are named U1–10. Age is included in years. Epilepsy status at any time point in the present study is included as is the mecp2 mutation in each individual subject. The ISS (International Scoring System) before treatment is also included, except in U1 where it was not available.