Background: Autistic people without intellectual disabilities have increased perceptual capacity: they can process more information at any given time compared to non-autistic people. We examined whether increased perceptual capacity is evident across the autistic spectrum (i.e. for autistic people with intellectual disabilities) and whether it is…

Background: Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder with symptoms that impact health and quality of life (QOL). There is limited data on global health, QOL and the relationship with mood in individuals with PWS. Methods: Parents completed three validated assessments, the Glasgow Depression Scale-Carer Supplement (GDS-CS),…

Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human-based…

Background: The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). Methods: This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first-hand experience of clinicians who…