The association of autism and genetic syndromes-an update of Shprintzen (1997) using a systematic literature review.
Higgins, R. (2014) The association of autism and genetic syndromes-an update of Shprintzen (1997) using a systematic literature review., no. 132.
In 1997 Shprintzen published a pioneering text in which he listed genetic syndromes and their associated communication disorders. In his pioneering text Shprintzen chose to focus on speech, language, voice, resonance and hearing as communication consequences associated with genetic syndromes. Communication consequences within the area of social use of language (i.e. pragmatics) in particular Autism appeared to not be documented within this original cohort. A meta-analysis of Shprintzen's (1997) catalogue revealed 6 syndromes in which features described provided a hint towards autism. A systematic review of the literature (from 1997-2013) revealed a cohort of 10 articles which were analysed to determine the association between genetic syndromes and Autism Spectrum Disorders. The presence of Autism was confirmed and additional information was added to 3 of the syndromes described as having presentation of autism within the original catalogue. New information was added to 27 existing syndromes and 15 new syndromes with associated autism were discovered. Many of the updates provided details of the autistic characteristics within genetic syndromes as well as highlighting the differences when compared to idiopathic autism. As well as these descriptions additional information also included prevalence rates. However, there is still a large amount on syndromes for which the description was given as "autistic features present". Following Van Borsel's (2004) meta-analysis of voice and resonance disorders in genetic syndromes, analysis was carried out with regards to autism present in genetic syndromes and its co-occurrence with speech, language, voice, resonance and hearing disorders. Autism never occurs in isolation and it is most frequently reported to co-occur with speech and language difficulties (26%). The presence of autism is reported in a greater number of single gene syndromes (62%) compared to 38% within chromosomal abnormalities. The study drew similar conclusions to Van Borsel (2004), highlighting the communicative consequences of genetic syndromes remain an area that is under researched and that genotype-phenotype relationships are still lacking.