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Rett Syndrome

Rett Syndrome


Contact: Interrett
Tel: 61 (08) 9489 7790
Email: Aussie.Rett@telethonkids.org.au
Website Click here
More info: The Australian Rett Syndrome Study
Telethon Kids Institute
PO Box 855
West Perth
WA 6872
About: Classical Rett syndrome is a rare neurodevelopmental condition that mainly occurs in females. Children with the condition usually have normal development until about 6 to 18 months of age, when development may be stagnant for a period of time. Children may then begin to lose previously acquired skills, such as purposeful hand movements and the ability to communicate.
Additional features may include slowing of head growth, development of distinctive, uncontrolled hand movements, such as hand clapping, rubbing, or ‘wringing’, impaired control of voluntary movements required for coordination of walking, autistic-like behaviours, breathing irregularities, feeding and swallowing difficulties, growth impairment, and seizures. Rett syndrome is caused by a faulty gene on the X-chromosome that may, in rare cases, be inherited in an X-linked dominant pattern. In
most cases, however, Rett syndrome occurs spontaneously (sporadically) for unknown reasons, as a new gene change in an affected individual.
Useful links:

Rett Syndrome (USA) https://www.rettsyndrome.org/

Girl Power 2 Cure (Funraising + Support -USA) http://www.girlpower2cure.org/

Rareconnect Group - https://www.rareconnect.org/en/community/rett-syndrome

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