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        Sleep problems in Rett syndrome

        Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history. ...

        Research

        Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

        Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations... ...

        Research

        The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

        This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome... ...

        Research

        Determinants and Outcomes of Preterm Birth & Pathways into Developmental Disorders

        Brad Carrington Fiona Farrant Shepherd Stanley BM CCJ FJ BSc (Hons), PhD PhD FAA FASSA MSc MD FFPHM FAFPHM FRACP FRANZCOG HonDSc HonDUniv HonFRACGP HonMD HonFRCPCH HonLLB (honoris causa) Co-Head, Aboriginal Health and Wellbeing Honorary Research ...

        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, Development and Disability McCusker Postdoctoral Research Fellow in Type 1 Diabetes +61 419 956 946 08 ...

        Research

        Epidemiology of craniofacial anomalies and association with intellectual disabilities in Western Australia: A population based study

        Helen Mohammed Leonard Junaid HM MJ MBChB MPH BDS, MDS, MFDS RCPS (Glasg.), DDPH RCS (Eng) Principal Research Fellow Research Officer +61 419 956 946 +614 3387 0544 helen.leonard@telethonkids.org.au mohammed.junaid@telethonkids.org.au Principal ...

        Research

        Hospitalisation for oral health-related conditions in children with intellectual disability in Western Australia: a population-based cohort study

        Helen Leonard HM MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@telethonkids.org.au Principal Research Fellow Areas of research expertise: Child disability; intellectual disability; autism spectrum disorders; Down syndrome; Rett ...

        Research

        International CDKL5 Disorder Database

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

        Research

        Mothers with intellectual disability and their children in Western Australia

        Helen Leonard HM MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@telethonkids.org.au Principal Research Fellow Areas of research expertise: Child disability; intellectual disability; autism spectrum disorders; Down syndrome; Rett ...

        Research

        Early onset of otitis media is a strong predictor of subsequent disease in urban Aboriginal infants: Djaalinj Waakinj cohort study

        Australian Aboriginal and/or Torres Strait Islander children in rural/remote areas suffer high rates of persistent otitis media (OM) from early infancy. We aimed to determine the proportion of Aboriginal infants living in an urban area who have OM and investigate associated risk factors. ...

        Research

        Factors influencing participation in home, school, and community settings by children and adolescents with neuromuscular disorders: A qualitative descriptive study

        This study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation. ...

        Research

        Associations between the human immune system and gut microbiome with neurodevelopment in the first 5 years of life: A systematic scoping review

        The aim of this review was to map the literature assessing associations between maternal or infant immune or gut microbiome biomarkers and child neurodevelopmental outcomes within the first 5 years of life. We conducted a PRISMA-ScR compliant review of peer-reviewed, English-language journal articles. ...

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