Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome

Abstract

Highlights► Various body movements, facial expressions, eye movements, and vocalizations were used to communicate. ► Non-verbal communicative forms dominated over verbal-communicative forms for most communicative functions. ► Early peculiarities in the speech-language domain during the first year of life became more prominent and evident during the second year of life. ► Socio-communicative deficits are present before regression and persist after this period. ► Assessing socio-communicative forms and functions at early age in children with RTT might essentially contribute to early detection.

What is a gesture? A lesson from comparative gesture research

“…Existing studies in this area have found that the presence or absence of communicative gestures is a significant predictor of language in Down syndrome, ASD, and specific language impairment, but less predictive for Williams syndrome and fragile X syndrome (Luyster et al 2011), suggesting syndrome-specific developmental patterns. Our own studies (Bartl-Pokorny et al 2013;Marschik et al 2012a;2012b; are consistent with this suggestion, but also indicate the need to be cautious in attributing communicative intent or functionality to the gestures and signs of such children. Not only do we have to define the onset of functionality of certain behaviors as being communicative, but we also have to consider the cause for the paucity of communicative gestures that is associated with many NDDs.…”

Informal Social Networks of People with Profound Intellectual and Multiple Disabilities: Relationship with Age, Communicative Abilities and Current Living Arrangements

“…pointing or words) (adapted from Marschik et al . ). Each communicative ability category was scored with a yes or no.…”

Silent angels the genetic and clinical aspects of Rett syndrome

“…Gradual regression is characteristic, which begins after the third year of life [54]. According to Marschik P. et al, among children with preserved speech, there are also social and communicative disorders that are present even before the period of regression [50].…”

“…Według Marschika P. i in. wśród dzieci z zachowaną mową, również występują zaburzenia społecznokomunikatywne, które są obecne jeszcze przed okresem regresji [50].…”