• Did your child have an apparently normal prenatal and perinatal history?
• Was her motor development normal?
• Was her head circumference at birth normal?
• Did she lose purposeful hand skills between 18 months and 30 months?
• Does she have hand movements like wringing, clapping, mouthing or rubbing?
• Has she withdrawn socially?
• Has she forgotten skills?
• Can a boy have Rett?

The diagnostic criteria for Rett syndrome include:

• apparently normal prenatal and perinatal history
• psychomotor development largely normal through the first six months or may be
• delayed from birth
• normal head circumference at birth
• postnatal deceleration of head growth in the majority
• loss of achieved purposeful hand skill between ages 1/2-21/2 years
• stereotypic hand movements such as hand wringing/squeezing, clapping/tapping,
• mouthing and washing/rubbing automatisms

And also possibly:

• awake disturbances of breathing (hyperventilation, breath-holding, forced expulsion
• of air or saliva, air swallowing)
• teeth grinding (bruxism)
• impaired sleep pattern from early infancy
• abnormal muscle tone successively associated with muscle wasting and dystonia
• peripheral vasomotor disturbances (cold, blue hands and feet)
• scoliosis/kyphosis progressing through childhood
• growth retardation
• hypotrophic (small) feet; small, thin hands

 But not:

• enlarged organs or other signs of storage disease
• retinopathy, optic atrophy, or cataract
• evidence of brain damage before or after birth
• existence of identifiable metabolic or other progressive neurological disorder
• acquired neurological disorder resulting from severe infections or head trauma