The syndrome of Rett is a neurological genetic disease reaching the girls and appearing after 6 and 18 months of normal development in the little girl. The development of the child in the first months of life is normal then after a short stop of this development, appears a fast regression. The most distinctive sign of this disease is the disappearance of the movements coordinated with the hand which are replaced by stereotyped repetitive movements. Crises of fears and tears are usual between 18 and 24 months.

The other signs are attacks of panic, diminish jaw, demonstrations autistic, respiratory disorders, disorders of balance and coordination of the movements, tremors and the appearance of a Microcéphalie.

After one period of regression, the disease is stabilized with appearance of a Dystonie and deformation of the feet and hands during the growth. Crises of epilepsy occur once on two; that is to say tonico-clonic crises generalized or of the localized crises.

The girls reached of the syndrome of Rett often reach the adulthood but there exists a high frequency of unexplained sudden death at the adulthood.

Changes of gene MECP2 are observed more and more at individuals presenting an atypical syndrome of Rett and previously diagnosed like autistic, turbid means of the training, clinical suspicion of Syndrome of Angelman without biological confirmation, backwardness with tremor and disorder of tonicity.

Boys presenting of the clinical criteria of the syndrome of Rett are known; it acts is boys whose chromosomic chart is XXY or presenting post-conceptional changes leading to a somatic mosaic. The boys carrying the change of gene MECP2 with a chromosomic chart XY present a severe Encéphalopathie to the birth and die before the two years age.

Its character of genetic disease was highlighted in 1999.

Description

  • psychomotor Development of the apparently normal child during the first 6 months or perhaps delayed as of the birth.
  • postnatal Deceleration of the growth of cranium in the majority of the cases.
  • Loss of the voluntary use of the hands between 6 and 30 months.
  • Turbid of the communication and social withdrawal in early childhood (often confused with the autism).
  • severe Deterioration of the language and psychomotor delay.
  • Stereotypies of the hands such as movements of torsion, pressure, beats, tapotement, automatism of the hands to the mouth, washing and frictions.
  • Deterioration or absence of walk in early childhood.

Prevalence

The syndrome of Rett represents the leading cause of backwardness in the girl in the world, its prevalence varies between 1/10.000 and 1/22.000 birth in the various countries. The prevalence of the syndrome of Rett in France east from approximately 1 for 20  000 girls.

Criteria of diagnosis

Private clinic

The criteria of diagnoses of the syndrome of Rett , retained in 1988 and always of topicality, are
  • apparently normal Développement until the age from 6 to 8 months;
  • normal cranial Perimeter at the birth, deceleration of the growth of cranium between 3 months and 4 years;
  • Absence of a normal development of the language;
  • repetitive Movements of hands (washing of hands, torsions, etc);
  • Apraxia/Ataxia of the trunk and loss of the voluntary use of the hands between six and thirty months;
  • unstable or badly assured Step (when the child walks).

Of other symptoms can be present and help with the diagnosis:

  • turbid of the respiratory functions (apnea or hyperventilation during the awakening, blocking of breathing);
  • epilepsy;
  • sleep disorder;
  • of the anomalies to the electroencephalogram;
  • muscular spasticity with muscular atrophy and dystonie;
  • Scoliosis;
  • hypotrophie of the feet;
  • shortening of the 4th métacarpien and/or métatarsien with radiography;
  • delay of growth;
  • squeakings of teeth;
  • disorder of swallowing and the chewing;
  • bad circulation of the lower extremities.

The other symptoms behavioral are:

  • irritability, agitation;
  • howls;
  • fear of the aggressions;
  • inconsolable tears;
  • reducing glance (avoiding crossing the glance of the others);
  • absence of emotional or social implication;
  • not of subjects of interest in general;
  • refusal marked to use the not-verbal social behaviors.

The criteria of exclusion , which if they are present make it possible to exclude the disease from Rett:

  • retinopathy or atrophies optical;
  • delay of intra-uterine development;
  • congenital microcephalus;
  • signs of an identifiable metabolic disease;
  • signs of an identifiable and progressive neurological disease;
  • of the cerebral lesions acquired in perinatal period (following an infection or a cranial traumatism);
  • a viscéromégalie or signs of a disease of overload.

Differential diagnosis

Evolution

After one quiet period, during which the development is normal, the Syndrome of Rett evolves/moves in 4 stages:
  1. the early stage I of stagnation, between 6 and 18 months, with delay of psychomotor acquisitions without real regression;
  2. the stage II of fast neurological regression, between 1 and 4 years, with regression of driving and mental acquisitions, loss of the use of the hands and appearance of typical manual stereotypies;
  3. the stage III of stabilization apparent, known as " phase of reveil" , between 2 and 10 years, primarily the girls having acquired walk concerns. There are driving regression but improvement of the capacities of communication with visual contact and reduction in the autistic characters. The majority of the patients keep a " pseudo marche" until the adulthood.
  4. the stage IV of late driving deterioration, after 10 years. With loss of walk if it had been acquired, turbid of tonicity and skeletal deformation. In spite of this driving deterioration, socialization and the visual contact are preserved during all the adult life.

Forecast

Survival is relatively good and the patients exceed usually age the 10 years and 70% of them reach the 35 years. This prolonged survival implies to envisage a catch of load on the long run.

Treatment

There does not exist yet of treatment specific to etiologic aiming for the children reached.

The symptomatic treatments must be undertaken as soon as necessary with for example a treatment anti epileptic so necessary, medical an assumption of responsibility in the event of severe scoliosis, a food adapted and rich in calcic contribution.

The educational assumption of responsibility is particularly important and must be adapted on a case-by-case basis. This assumption of responsibility must be undertaken as soon as possible to have the most chance of progression. To try to obtain the greatest possible autonomy on behalf of the patient, it is necessary:

  • to work and maintain its motricity and its coordination with a kinesitherapist and a psychomotrician;
  • to propose varied, sporting and ludic activities, to facilitate its integration with the environment;
  • to encourage and develop its faculties of communication, exchange and relational…

The parents can resort to the French Association of the syndrome of Rett which proves to be an invaluable partner.

See too

Sources

  • Site in French of information on the orphan rare diseases and drugs
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 312750 * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005 ===Références===
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