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Diagnostic Criteria

Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay.  There is a simple blood test to confirm the presence of the MECP2 mutation; however, since we know that the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome.  Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on observed signs and symptoms) or both.  Below is a list of labs to share with your ordering physician that can do the MECP2 sequencing + deletion analysis, and the list of diagnostic criteria.


Required for typical or classic Rett

  • A period of regression followed by recovery or stabilization

  • All main criteria and all exclusion criteria

  • Supportive criteria are not required, although often present in typical Rett

Exclusion criteria for typical RTT

  • Brain injury secondary to trauma

  • Neurometabolic disease

  • Severe infection that causes neurological problems

  • Grossly abnormal psychomotor development in first 6 months of life

Required for atypical or variant Rett

  • A period of regression followed by recovery or stabilization

  • At least 2 of the 4 main criteria and 5 out of 11 supportive criteria

Main Criteria

  • Partial or complete loss of acquired purposeful hand skills

  • Partial or complete loss of acquired spoken language

  • Gait abnormalities: Impaired (dyspraxic) or absence of ability

  • Stereotypic hand movements such as hand wringing/squeezing, clapping/tapping, mouthing and washing/rubbing automisms

Supportive 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


www.rettsyndrome.org

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