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The goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.
ParticiPAte CP is a participation-focused therapy intervention that is effective to increase perceived performance of physical activity participation goals in children with cerebral palsy. We aimed to characterise the contents of ParticiPAte CP using validated behaviour change frameworks.
Participation in leisure activities is key to the physical and mental health of children and adolescents with disabilities. The Jooay™ mobile app aims to link children and adolescents with disability to participation opportunities in their community.
MECP2 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.
This study aimed to define the active ingredients of a participation-focused physical activity intervention for children and youth with disabilities.
To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.
CDKL5 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.
Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).
Citation: Marpole R, Langdon K, Wilson A. Gastrostomy feeding in children with severe cerebral palsy in Western Australia. Acta Paediatr Int J
Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described.