Autism Research and Treatment / 2016 / Article / Tab 1

Clinical Study

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.

PatientAgeEpilepsy (Y/N)MutationISS before study

IGF-1 treated subjects
S14.7YR270X (nonsense)19
S24.8YDel exons 3 and 421
S35.11YR133C (missense)18
S410.8N1155 del 12 + 1157 del 44 (frameshift)20
S58.1YT158M (missense)21
S65.9YC13ins in GCCGC in exon 1 (frameshift)19
S84.46NT158M (missense)14
S93.72N1096 del 8912
S103.92Y1157 del46n18

Untreated subjects
U12.19NC468G (missense)
U26.74YP152R (missense)17
U32.41N753 del C (frameshift)12
U44.61YR294X (nonsense)16
U54.7NR270X (nonsense)20
U612.06YY141X (nonsense)7
U71.92NR106W (missense)15
U82.66Y1085 del 183 (frameshift)15
U93.09NR168X (nonsense)18
U104.96YT158M (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.