Purpose/Method: There is increasing agreement that many genetic disorders h
ave characteristic behavioural phenotypes; that is genetic anomalies have s
pecific effects on behaviour. In this paper the existing literature is revi
ewed with an aim to identify behavioural and emotional features that are ca
ndidates for Rett syndrome (RS) specific behaviours.
Results/Conclusion: A number of behavioural and emotional features have bee
n reported to be common in individuals with RS. These behaviours may consti
tute an RS-specific profile of behaviour or behavioural phenotype. Alternat
ively, 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, s
uch as hand stereotypies and breathing difficulties, although other behavio
ural features are not included.