Purpose/method: There is increasing agreement that many genetic disorders have characteristic behavioural phenotypes; that is genetic anomalies have specific effects on behaviour. In this paper the existing literature is reviewed with an aim to identify behavioural and emotional features that are candidates for Rett syndrome (RS) specific behaviours.
Result/conclusion: A number of behavioural and emotional features have been reported to be common in individuals with RS. These behaviours may constitute an RS-specific profile of behaviour or behavioural phenotype. Alternatively, these behaviours may simply reflect the multiple disabilities found in individuals with severe or profound cognitive impairment. The diagnostic criteria for Rett syndrome include a number of the behavioural features, such as hand stereotypies and breathing difficulties, although other behavioural features are not included.