Definition

Rett Syndrome (RTT) was first described by Andreas Rett in 1966 (Smeets, 2012).  RTT is “a unique postnatal neurological disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys” (About Rett Syndrome).  The most common type is classic Rett Syndrome where girls have “6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions” (Genetics Home Reference).  RTT is “caused by mutations in the X-linked gene MECP2 (methyl-CpG-binding protein 2)” (Lyst 2015). RTT is not a syndrome that can be proven with a simple test. Blood test may be run to see if the MECP2 mutation is present however this mutation occurs in other disorders.  Therefore the blood test must be backed with a molecular diagnosis or a clinical diagnosis where the diagnostic criteria is present in the child being looked at for RTT (About Rett Syndrome). Here is a table from Smeets’ article, Rett Syndrome in the Molecular Syndromology, that shows the criteria for a diagnostic of RTT.

Here is a table that shows the criteria for Rett Syndrome diagnosis:

Criteria table: (Smeets 2012)

Consider RTT diagnosis when postnatal deceleration of head

growth is observed

Required for typical or classic RTT

A period of regression followed by recovery or stabilization

1. All main and all exclusive criteria

2. Supportive criteria are not required, although often present

in typical RTT

Required for atypical or variant RTT

1. A period of regression followed by recovery or stabilization

2. At least 2 of the 4 main criteria

3. 5 out of 11 supportive criteria

Main criteria

1. Partial or complete loss of acquired purposeful hand skills

2. Partial or complete loss of acquired spoken language

3. Gait abnormalities: impaired (dyspraxia) or absence of

ability (apraxia)

4. Stereotypic hand movements such as hand wringing/

squeezing, clapping/tapping, mouthing and washing/

rubbing automatisms

Exclusion criteria for typical RTT

1. Brain injury secondary to trauma (peri- or postnatally),

neurometabolic disease or severe infection that cause

neurological problems

2. Grossly abnormal psychomotor development in the first

6 months of life

Supportive criteria for atypical RTT

1. Breathing disturbances when awake

2. Bruxism when awake

3. Impaired sleep pattern

4. Abnormal muscle tone

5. Peripheral vasomotor disturbances

6. Scoliosis/kyphosis

7. Growth retardation

8. Small cold hands and feet

9. Inappropriate laughing/screaming spells

10. Diminished sensitivity to pain

11. Intense eye communication and eye-pointing behavior

Instructional Strategies