Table 1

Characteristics of study participants with typical and atypical RTT

 Typical Rett syndromeAtypical Rett syndrome
NAge at diagnosisCSSNAge at diagnosisCSS
p.Arg106Trp235.3±4.624.5±5.852.8±1.325.3±6.8
p.Arg133Cys405.1±4.318.0±6.2115.2±2.113.4±5.7
p.Thr158Met913.2±2.523.4±6.645.9±4.418.9±5.9
p.Arg168X873.4±4.725.7±6.753.8±2.231.0±3.6
p.Arg255X813.0±2.525.2±6.5116.8±12.825.2±6.8
p.Arg270X484.0±5.625.6±7.962.5±1.426.8±4.2
p.Arg294X545.0±3.519.1±5.965.5±2.314.0±8.6
p.Arg306Cys504.5±4.919.0±5.584.2±0.712.1±7.1
3′ truncation744.6±4.221.3±6.3265.7±4.316.0±8.0
Deletion473±2.425.1±7.022.1±017.6±2.8
Exon 145.1±4.217.0±8.316.089.8±4.1
Insertion182.6±1.625.2±7.957.3±11.033.5±6.4
Large deletions744.5±6.625.3±6.887.3±12.128.3±7.6
Other point944.3±5.321.7±7.0164.7±2.520.1±8.7
Splice sites84.0±2.924.5±5.40
No mutations297.2±5.123.1±8.8357.6±6.425.4±7.7
  • For each diagnosis, the number of individuals (N), age at diagnosis and CSS for each mutation group. Data are presented as average±SD. All significant differences between CSS for typical RTT are listed in figure 1A and for atypical RTT are listed in figure 3.

  • CSS, clinical severity score; RTT, Rett syndrome.