Social communication impairment in genetic syndromes: a systematic literature review

Abstract

A systematic review of the literature identified a cohort of 48 articles that were submitted to the review process in order to examine the evidence for the occurrence of social communication impairment in genetic syndromes. This was done to examine the potential for including social communication impairment in Shprintzen's table detailing the communication features of 334 genetic syndromes (1997). The review provided updated information on the social communication features of 13 syndromes previously mentioned in Shprintzen's table (1997) and information on the social communication characteristics of 6 syndromes not detailed in Shprintzen's table (1997). For 9 of the syndromes the information added by the review represents information not previously mentioned in Shprintzen and for 3 syndromes the information is an expansion of the limited information already included on social communication features (1997). Many of the updates provide detailed information on several components of social communication and age-related changes have also been recorded for the majority of syndromes. This project also describes the difficulties in defining social communication and the results of the review show the wide variety of terms used and how appropriately they are used. Following Van Borsel (2004) the information was also examined to assess the co-occurrence of social communication impairment in genetic syndromes with other disorders, this showed that social communication impairment is rarely and isolated condition and most frequently occurs alongside cognitive impairment, language impairment and an increased ASD prevalence. Social communication impairment was also found to occur most frequently in syndromes with a mild-moderate learning disability and occurs across all genetic aetiologies. Similarly to Van Borsel (2004) and Shprintzen (1997) this work showed that information on the communication phenotypes of genetic syndromes is still limited and as of yet Speech and Language Therapists are not sufficiently involved in the research of genetic syndromes.