Table 1.

Rett Syndrome Criteria.

Rett Syndrome Criteria
Main Criteria
	Partial or complete loss of purposeful hand skills*
	Partial or complete loss of acquired spoken language
	Gait abnormalities: impaired or absence of ability*
	Sterotypic hand movements *
Exclusion Criteria
	Breathing disturbances when awake
	Bruxism when awake
	Impaired sleep pattern*
	Abnormal muscle tone*
	Peripheral vasomotor disturbances*
	Scoliosis/kyphosis*
	Growth retardation*
	Small cold hands and feet
	Inappropriate laughing/screaming spells *
	Diminished response to pain
	Intense eye communication- "eye pointing"

2/4 primary criteria and 5/11 secondary criteria with presence of regression are required for the diagnosis of Atypical RTT. The criteria met in our patient are indicated with an asterix (*).

This table was adapted from Neul et. al.²