Parental decision following prenatal diagnosis of Klinefelter syndrome: A proposal for a correct approach

Language and speech in Cornelia de Lange syndrome (CdLS) are generally severely affected with a specifi c pattern. Only 3–4% of children will become talkers, 40% are late talkers, 25% are limited talkers and 30% are non talkers. Receptive language is usually considered more superior to expressive language but few studies consider in depth receptive components nor try to correlate them (vocabulary and morphosyntax) with cognitive development and behaviour. The aim of this study is to describe the correlations between the cognitive and communication (expressive and receptive components) profi les of a cohort of 10 CdLS patients without hearing loss. Parental decision to terminate a pregnancy for a foetus with KS is less probable if the fi rst counsellor is a geneticist, especially with expertise in children. In the literature, pregnancy termination rates for KS range from 23% to 87.5%. In our study, termination rates for KS were only 6.5% because we used an approach that reduces the anxiety of the parents. It is important to note that the follow up studies on newborns showed that intellectual disability is not a characteristic sign of KS; rather it carries the same incidence rate found in the general population. Furthermore, follow up studies show that there is a moderate but not high risk of language defi cits, problems with learning and with motor skills which can be overcome with physiotherapy and that the facial and physical appearance of children with KS is normal.