Table 1.

Quality of writhing and fidgety GMs in 17 children later diagnosed with typical or atypical Rett syndrome; 10 children were recorded longitudinally and could be assessed for writhing and fidgety movements. All assessments were based on family videos (Einspieler et al., 2005b; Einspieler et al., 2013; Marschik et al., 2009).

Case / Mutation	Writhing GMs (Term Age to 2 Months)	Fidgety GMs (3 to 5 Months)	Comments
1/ R168X	N	AF
2 / del exon 3-4	N	F-
3 / c.378-43_964delinsGA	–	AF	PSV
4a / *	PR	–
5a / *	PR	–
6 / *	PR	–
7 / *	PR	AF
8 / R168X	PR	AF
9 / P152R	PR	AF
10 / T158M	PR	AF
11/ R255X	–	AF
12 / truncation deletion 1116-1201	–	AF
13 / S134 C	–	AF
14 / Q244X	CS	AF
15 / R255X	–	F-
16 / R168X	–	F-
17 / **	PR	F-

Abbreviations: N = Normal; PR = Poor Repertoire GMs, CS = Cramped Synchronised GMs, AF = Abnormal Fidgety movements; F- = Absence of Fidgety movements, – = not assessed during this epoch; ^a = twins; * = not mutation tested; ** = MECP2 mutation positive but not further specified; PSV = Preserved Speech Variant of Rett syndrome.