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        The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

        Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2). ...

        Research

        Investigating genotype-phenotype relationships in Rett syndrome using an international data set

        This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in... ...

        Research

        DETECT Schools

        The DETECT-Schools Study was launched in May 2020 as a partnership between the WA Government Departments of Education and Health with the Telethon Kids Institute.  ...

        Research

        Development of a universal aftercare model for people who have presented to the emergency department for a suicidal crisis in WA

        Pete Dan Camilo Sara Samantha MEDIA ENQUIRIES Gething Weiss Vargas Heinamaa Speirs Media Contacts PG DW CV SH SS Please direct general enquiries to our reception on (08) 6319 1000. Please direct media enquiries to our media team: Alison Savage ...

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        Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials

        CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD). ...

        Research

        Can positive mindsets be protective against stress and isolation experienced during the covid-19 pandemic? A mixed methods approach to understanding emotional health and wellbeing needs of perinatal women

        The aim of this study was to explore the relationship between emotional health and wellbeing and support needs of perinatal women during the COVID-19 pandemic, and to understand their experiences and need for support. This is a potentially vulnerable group and a critical developmental phase for women and infants. ...

        Research

        Mind The Distance

        Yael Jacinta Penelope Keely Bep Amy Helen Claire Perry Freeman Strauss Bebbington Uink Finlay-Jones Milroy McIlroy YP JF PS KB BU AFJ HM CM BPsych (Hons) MPsych (Clin) PhD BScs, MPH BA, MPH, PhD MClinPsych/PhD BPsych(Hons.), MAppPsy(Clinical), PhD ...

        Research

        The ARC Centre of Excellence for Children and Families over the Life Course

        Emma Francis Ha Steve Francis Steve Francis Ha Steve Hayley Melissa Francis Steve Sarah Emma Carrington Steve Francis Steve Francis Steve Francis Ha Francis Joel Steve Francis Ha Steve Francis Glenn Steve Sarah Adams Mitrou Nguyen Zubrick Telethon ...

        Research

        A tonsil organ model to evaluate carriage, disease mechanisms and therapeutic interventions for the treatment and prevention of Group A Streptococcus infections

        Anthony Tim Kicic Barnett A TB BSc (Hons) PhD PhD Rothwell Family Fellow; Head, Airway Epithelial Research Head of the Strep A Pathogenesis & Diagnostics team, Deputy Director of the Wesfarmers Centre of Vaccines and Infectious Diseases 6319 1319 ...

        Research

        IDEA (Intellectual Disability Exploring Answers) Database

        Carol Helen Bower Leonard C HM MBBS MSc PhD FAFPHM DLSHTM FPHA MBChB MPH Senior Principal Research Fellow, Alcohol and Pregnancy & FASD Research; Director, FASD Research Australia CRE Principal Research Fellow 08 6319 1813 +61 419 956 946 ...

        Research

        Investigating the relationships between sun exposure and cardiometabolic dysfunction

        Peter Shelley Jacoby Gorman PJ S BA (Hons) MSc BSc (Hons) PhD Biostatistician Honorary Research Associate Peter.Jacoby@telethonkids.org.au shelley.gorman@telethonkids.org.au Biostatistician Honorary Research Associate Peter Jacoby is a senior ...

        Research

        SPARX-T: An online game to prevent depression in trans young people

        Yael Penelope Helen Holly Perry Strauss Morgan Moss YP PS HM HM BPsych (Hons) MPsych (Clin) PhD BA, MPH, PhD BA (Hons), Doctor of Psychology BEd Program Head, Mental Health & Youth; Head, Youth Mental Health Research Fellow in Youth Suicide ...

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