- Neuronal migration mechanisms in development and disease.
- A novel sex determination system in a close relative of the house mouse.
- Nup153 and megator define transcriptionally active regions in the Drosophila genome.
First of all, it is very important to emphasize that Rett syndrome is a clinical diagnosis. It can only be made after a careful clinical examination. The presence of a mutation in the MeCP2 gene does not necessarily mean that the patient is affected by Rett syndrome. Rett syndrome and MeCP2 mutation are not synonymous.
The diagnostic criteria of Rett syndrome were revised in septembre 2001 (Hagberg et al. 2001), during the meeting of the European Society of Pediatric Neurology in Baden-Baden. The initial criteria of 1985, revised in 1988, were used to elaborate the current recommendations. The new grid is made of 8 main criteria that must all be present, 8 secondary criteria that may or may not be present, and 5 exclusion criteria that must be absent from the phenotype of the patient.
1. apparently normal prenatal and perinatal history.
2. psychomotor development largely normal through the first six months or may be delayed from birth.
3. normal head circumference at birth.
4. postnatal deceleration of head growth in the majority.
5. loss of achieved purposeful hand skill between ages 6 to 30 months.
6. stereotypic hand movements such as hand wringing/squeezing, clapping/tapping, mouthing and washing/rubbing automatisms.
7. emerging social withdrawal, communication dysfunction, loss of learned words, and cognitive impairment.
8. impaired (dyspraxic) or failing locomotion.
1. awake disturbances of breathing (hyperventilation, breath-holding).
2. bruxism (teeth grinding).
3. impaired sleep pattern from early infancy.
4. abnormal muscle tone successively associated with muscle wasting and dystonia.
5. peripheral vasomotor disturbances.
6. scoliosis/kyphosis progressing through childhood.
7. growth retardation.
8. hypotrophic small and cold feet; small, thin hands.
1. organomegaly or other signs of storage disease.
2. retinopathy, optic atrophy, or cataract.
3. evidence of perinatal or postnatal brain damage.
4. existence of identifiable metabolic or other progressive neurological disorder.
5. acquired neurological disorder resulting from severe infections or head trauma.
Additional informations can be obtained from the parent support groups or specialized web sites whose addresses are given in the "links" section of our site.