RETT SYNDROME

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CLINICAL CRITERIA FOR DIAGNOSTIC

First, it is very important to stress that Rett syndrome diagnosis can only be performed after clinical examination. The presence of a mutation in the MECP2 gene does not necessarily mean that the affected patient has Rett syndrome. Rett syndrome and the presence of a MECP2 mutation are NOT synonymous.

Rett syndrome was the subject of several consensus conferences to establish diagnostic criteria. An expert panel, belonging to the RettSearch consortium, revised the criteria again in 2010. The initial 1985 clinical criteria, revised in 1988 and 2002, were used to propose the new recommandations (Neul et al., 2010).

Rett syndrome can now be diagnosed based on the presence of :

  1. -the existence of a regression phase followed by recovery or stabilisation (the presence of that phase is now mandatory to diagnose a classical Rett syndrome patient)

  2. -4 inclusion criteria (all need to be present), 11 supportive criteria (that can be absent), and 2 exclusion criteria (all need to be absent).

INCLUSION criteria


Partial or complete loss of acquired purposeful hand skills


Stereotypic hand movements such as hand wringing/squeezing, clapping/tapping,
mouthing and washing/rubbing automatisms.


Partial or complete loss of acquired spoken language


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

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”.

exclusion CRITERIA


Brain injury secondary to trauma (peri- or postnatally), neurometabolic disease, or severe infection that causes neurological problems.


Grossly abnormal psychomotor development in first 6 months of life.

Additional information can be obtained from the patient support groups or specialized sites whose addresses are provided in the  "links" section of this site.