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. Author manuscript; available in PMC: 2012 Oct 24.
Published in final edited form as: Synapse. 2012 Feb 28;66(6):471–482. doi: 10.1002/syn.21515

Table III.

Genetic and clinical characteristics of participants with Rett syndrome (RTT) who received single-photon emission-computed tomography (SPECT) of the brain for sixty (60) minutes, twenty-four (24) hours following the intravenous injection of approximately 333 MBq (9 mCi) (−)-5-[123I]iodobenzovesamicol ([123I]IBVM)

Age in years MeCP2 mutation X-inactivation HCc Walksa Feeds selfb ADLSc Medications Hd Rd Sd Scd
19 T158M Random 54 (35%) 0 0 0 phenobarbital 1 2 1 1
21 R306C Skewed 50 (<2%) 2 1 2 carbemazepine, valproic acid 0 0 1 1
22 R294X Random 48.5 (<2%) 0 0 0 levetiracetam, valproic acid 0 2 1 3
31 R270X Random 53.3 (10%) 1 1 1 fluoxetine 1 1 0 1

HCc = head circumference in centimeters with percentiles in parentheses; H = hyperventilation; R = rigidity; S = seizures; Sc = scoliosis;

a

0 = cannot walk; 1 = walks with assistance; 2 = walks without assistance

b

0 = cannot feed self; 1 = can feed self

c

Scores on Activities of Daily Living Scale (ADLS)

0 = neither walks nor feeds self

1 = walks with assistance and feeds self

2 = walks without assistance and feeds self

d

Scores for H, S, Sc, and R: 0 = none. 1 = mild. 2 = moderate, 3 = severe.