Table 1.

Descriptive characteristics of the patients with Rett Syndrome

Clinical stage	Age	MeCP2 Mutation	RARS1 scores	Level of2 severity	VABS3 scores
II	4	R306C	66.5	Moderate	83
II	4	R255X	80.5	severe	40
II	4	PT158M	52.5	Moderate	60
II	4	R306C	74	Moderate	50
II	4	/	71.5	Moderate	56
III	5	R294X	66.5	Moderate	80
III	5	P322A	58.5	Moderate	75
III	7	/	47.5	Moderate	60
III	7	R168X	51.5	Moderate	82
III	8	/	48.5	Mild	121
III	8	R133C	35	Mild	140
III	10	FOXG1	86.5	severe	35
III	10	T158M	81	Severe	33
III	11	R255X	66	Moderate	83
III	12	R306C	69	Moderate	88
III	12	R306C	59	Moderate	84
III	13	S355fsX37	63.50	Moderate	110
III	14	/	56	Moderate	58
III	14	R270X	61.5	Moderate	76
III	14	P322A	52.5	Moderate	86
III	16	T158M	71	Moderate	92
III	16	168RX	62	Moderate	131
III	16	R133C	64.5	Moderate	110
III	17	arg168stop	37	Mild	121
III	18	/	67.5	Moderate	107
III	19	R255C	74.5	Moderate	84
III	20	CDLK5	61	Moderate	56
III	20	P322L	58.7	Moderate	105
III	22	P389X	66.5	Moderate	84
III	26	R270X	56.5	Moderate	65
IV	29	R255C	72	Moderate	86
IV	29	R135C	39	Mild	168
IV	31	R255C	59.5	Moderate	165
IV	35	/	47	Mild	118
IV	36	T158M	59	Moderate	63

¹Rett Assessment Rating Scales (RARS)

²Levels of severity according to the total scores of RARS (Mild = 0–55; Moderate = 56–81; Severe= > 81)

³Vineland Adaptive Behaviour Scales-Interview second edition (VABS)