Background: Advances in medical genetics herald the possibility that health and social care services could be more responsive to the needs arising from a person's genotype. This development may be particularly important for those men and women whose learning disability (known internationally as intellectual disability) is linked to a…

Background: Despite the distinctive physical, cognitive, personality and behavioural characteristics associated with Williams syndrome, few studies to date have examined parental experiences of raising a child with this genetic syndrome. Methods: This explorative pilot study employed predominantly qualitative methodologies via face-to-face…

This basic interpretive study addressed the reasons why parents seek a differential diagnosis for their child who has a developmental disability. Fourteen parents were interviewed about why they sought a label for the disabilities of their child. Participants included six parents of children with identified genetic conditions, three parents of…

Purpose: To describe and compare the pragmatic language profiles of school-age children with autism spectrum disorders (ASD) and Williams syndrome (WS) on a standardized measure to determine whether a standard pragmatics tool can differentiate between 2 groups of children with opposing social presentations and pragmatic language difficulties.…