Background: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterised by several typical somatic characteristics and by developmental disabilities with various degrees of severity. Focusing on children with RSTS, the aim of this study was to describe their psychomotor, cognitive, and socio-emotional developmental…

Purpose: Multiple factors impact reading acquisition in individuals with reading disability, including genetic disorders such as Williams syndrome (WS). Despite a relative strength in oral language, individuals with WS usually have an intellectual disability and tend to display deficits in areas associated with reading. There is substantial…

Contemporary educational policies both at international and national levels acknowledge the educational rights of all children and their inclusion in mainstream educational practices. Like other children at risk, children with disabilities have opportunities to access mainstream education but their participation is not always realised in practice.…

Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes. We report the clinical, biochemical, imaging, and treatment data of two…