Table 2

Rett variant supportive manifestations at 4 years 9 months

B1Episodic hyperventilation/breath holding+
B2Bloating/marked air swallowing+
B3RS type tooth grinding+++
B4Gait dyspraxia+
B5Neurogenic scoliosis(Too young)
B6Abnormal appearing lower limb signs(+)
B7Impaired feet: small/blue/very cold+
B8RS EEG abnormalities/pattern+
B9Inappropriate laughing/screaming+++
B10Impaired/delayed nociperception++
B11Intense eye “pointing”−
Neurometabolic exclusion screenAll negative results
Clinical genetic examinationSee Results section