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Table 1 Baseline clinical characteristics of participants from the Rett syndrome natural history study (RNHS) analyzed in this study

From: Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study

Characteristic

Category

First iteration (n = 1070)

Second iteration (n = 662)

Race1**

White

88%

92%

Black or African American

7%

5%

American Indian or Alaska Native

3%

1%

Asian

5%

5%

Native Hawaiian or Pacific Islander

(Not assessed)

1%

Ethnicity*

Not Hispanic, Latino, or Spanish Origin

85%

87%

Hispanic, Latino, or Spanish Origin

15%

11%

RTT diagnosis

Classic (typical)

87%

89%

Variant (atypical)

13%

11%

MECP2 severity

Mild

32.5%

35.0%

Moderate

16.7%

17.0%

Severe

50.8%

47.9%

Age***

 

9.1 years ± 8.8 (range 1–66)

15.2 years ± 10.7 (range 1–58)

CSS total***

 

22.2 ± 7.8

23.8 ± 8.3

MBA total**

 

46.9 ± 15.0

48.8 ± 13.8

  

Cohort 1 (n = 718)

Both studiesa (n = 352)

Cohort 2 (n = 310)

RTT diagnosis

Classic (typical)

83.4%

93.5%***

83.2%

Variant (atypical)

16.6%

6.5%***

16.8%

MECP2 severity

Mild

32.4%

32.7%

37.7%

Moderate

16.4%

17.1%

17.0%

Severe

51.1%

50.1%

45.3%

Age

 

9.22 ± 8.6 (range 1–66)

8.84 ± 9.1 (range 1–48)

12.56 ± 10.7*** (range 1–52)

CSS total

 

22.92 ± 7.9

20.79 ± 7.4***

22.18 ± 8.4

MBA total

 

49.01 ± 15.2

42.64 ± 13.6***

47.84 ± 14.5

  1. Both Subjects participating in both the first and second iteration, Cohort 1 Subjects only participating in the first iteration, Cohort 2 Subjects only participating in the second iteration, CSS Clinical Severity Scale, First iteration Subjects enrolled 2006–2015, MBA Motor Behavioral Assessment, Mild MECP2 severity R133C, R294X, R306C, and C-terminal truncations, Moderate MECP2 severity T158M and other point mutations, RTT Rett syndrome, Severe MECP2 severity R106W, R168X, R255X, R270X, early truncations, large deletions, and splice site, Second iteration Subjects enrolled 2015–2019
  2. 1More than one option could be selected so total > 100%; ***P < 0.001, **P < 0.01, *P < 0.05 compared to first iteration or cohort 1
  3. aBaseline data from first iteration