Browse study websites

Discover. Prevent. Cure.

Menu Fundraise Donate

    Recommended pages

      Do you mean

        251-260 of 335 results for 'Neurodevelopmental conditions'

        Refine search

        Research

        Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

        Research

        A community-led, trauma-informed psychosocial intervention to improve health outcomes of children and young people with Type-1 diabetes

        Alix Helen Keely Rigel Nicole Woolard Milroy Bebbington Paciente Wickens AW HM KB RP NW BPsych (Hons), PhD MBBS; FRANZCP; CATCAP MClinPsych/PhD MPH ( ...

        Research

        Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

        CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder. ...

        Research

        Parent-reported health-related quality of life of children with Down syndrome: A descriptive study

        To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. ...

        Research

        CDKL5 variants: Improving our understanding of a rare neurologic disorder

        Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data. ...

        Research

        Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

        There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome. ...

        Research

        Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study

        We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome. ...

        Research

        Down syndrome studies; the transition from secondary school to adulthood: Experiences and life outcomes for youth with an intellectual disability and their families

        Helen Jenny Keely Leonard Downs Bebbington HM JA KB MBChB MPH BApplSci (physio) MSc PhD MClinPsych/PhD Principal Research Fellow Program Head, ...

        Research

        Quality of life beyond diagnosis in intellectual disability – Latent profiling

        To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities. ...

        Research

        Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

        Bone mass and density are low in females with Rett syndrome. ...

        Page 26 of 34