What is Rett syndrome?

Rett syndrome is a serious and complex neurological disorder. It almost exclusively affects girls and women. The symptoms of Rett syndrome may be initially unnoticeable, they appear several months after birth and become more apparent in the second year of life. Persons suffering from Rett syndrome are severely physically disabled and completely dependent on the help of others throughout their life.

Why is this disorder called Rett syndrome (RTT)?

RTT is a disorder with a characteristic set of neurological symptoms. The model of symptoms typical for RTT was described for the first time in 1966 by an Austrian physician, Prof. Andreas Rett.

What are the causes of Rett syndrome?

Rett syndrome is clinically diagnosed based on symptoms and behaviour. In many cases, it is confirmed by genetic tests.

Typical symptoms are as follows:

  • Short period of normal or almost normal infant development;
  • Period of developmental stagnation between the end of the first year of life and occurrence of the first symptoms of regress;
  • Period of developmental regress manifesting itself in limitation of ability to speak and purposeful hand skills occurs between 9 and 30 months of age;
  • Development of stereotypical (repeating) hand movements (clapping, washing movements, wringing and moving hands to the mouth);
  • Occurrence of stiffness or clumsiness during walking;
  • Normal head circumference after birth but slower head growth between 2 months and 4 years of age;
  • No other disorders that could explain the aforementioned symptoms.

    Other symptoms that often occur in Rett syndrome:

    • Breathing disorders, hyperventilation and/or apnea and/or air swallowing;
    • Irregular EEG;
    • Epilepsy - more than 50% of people with Rett syndrome may suffer from certain forms of convulsions;
    • Increase in muscular tension, rigidity of muscles, deformation of joints and muscle atrophy developing with age;
    • Unsteady walk on a wide surface;
    • Development of scoliosis (abnormal sideways curvature of the spine);
    • Growth retardation.

  • More information: www.rettsyndrome.pl

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