Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Cognitive impairment

Abnormality in the process of thought including the ability to process information.


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PMID (PMCID)
25714420
 FEMALE Child
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
Romaniello R, Saettini F, Panzeri E, Arrigoni F, Bassi MT, Borgatti R.
Neuroreport. 2015;26(5):254-7.
This study reports on a 9-year-old girl who developed West syndrome and showed clinical features fulfilling the main revised diagnostic criteria for typical Rett syndrome (hand washing, severe cognitive impairment with absence of language, ataxic gait, progressive scoliosis and autistic features).