Fig. 1

Reported information on the various clinical forms of RTT diagnosed in individuals in Ireland. The left pie chart shows the percentage of different clinical RTT forms- typical, atypical and Rett-like as reported in our study cohort: 48% (n = 12) reported a diagnosis of typical RTT, 28% (n = 7) reported a diagnosis of atypical RTT, 4% (n = 1) reported a ‘Rett-like’ diagnosis, and 20% (n = 5) did not know their diagnosis. The right pie chart shows the different forms of atypical RTT reported by the participants: 14% (n = 1) reported speech variant, 29% (n = 2) reported ‘early seizure variant’, and 57% (n = 4) did not know the atypical RTT variant they were diagnosed with