Search
Research
A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
Research
CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
Research
Very Early Identification and Intervention for Infants at Risk of Neurodevelopmental Disorders: A Transdiagnostic ApproachIn this article, we examine the utility of a transdiagnostic, dimensional approach to very early identification and intervention for infants at risk of neurodevelopmental disorders
Research
Risk of Developmental Disorders in Children of Immigrant Mothers: A Population-Based Data Linkage EvaluationIncreased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups
Research
Impact of biobanks on research outcomes in rare diseases: a systematic reviewThis review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks
Research
Epidemiology of gastrostomy insertion for children and adolescents with intellectual disabilityGastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers
Research
Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care servicesThis study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem
Research
Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables
Research
Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophyThis study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives
Research
Twenty-five-year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010Long-term survival was lower for Aboriginal children with congenital heart defects