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        Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)

        Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability. ...

        Research

        Validating the rett syndrome gross motor scale

        The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials ...

        Research

        Family satisfaction following spinal fusion in Rett syndrome

        Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on... ...

        Research

        The Interseasonal Resurgence of Respiratory Syncytial Virus in Australian Children Following the Reduction of Coronavirus Disease 2019-Related Public

        Following the end of winter, there has been a persistent absence of severe acute respiratory syndrome coronavirus 2 community transmission and no increase in influenza detections. Limited physical distancing measures have remained in place, with largely no restrictions on gathering sizes and no mandate for wearing masks. ...

        Research

        Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

        Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families. ...

        Research

        Transplacental immune modulation with a bacterial-derived agent protects against allergic airway inflammation

        These data provide proof of concept supporting the rationale for developing transplacental immune reprogramming approaches for primary disease prevention ...

        Research

        Mechanisms of Acute Viral Respiratory Illness in Children (MAVRIC)

        Ingrid Anthony Deborah Jonatan Thomas Laing Kicic Strickland Leffler Iosifidis IL A DH JL TI BSc PhD BSc (Hons) PhD PhD PhD BSc BMedSci(Hons) PhD Head, Children's Respiratory Science Rothwell Family Fellow; Head, Airway Epithelial Research Program ...

        Research

        Mind the distance: experiences of non-face-to-face child and youth mental health services during COVID-19 social distancing restrictions in Western Australia

        Following the outbreak of COVID-19, social distancing restrictions limited access to face-to-face mental health services in Western Australia (WA), necessitating a rapid transition to non-face-to-face alternatives, including telehealth. The current study investigated barriers and facilitators to telehealth access and engagement, and preferences for child and youth mental health service delivery during and beyond COVID-19. ...

        Research

        Anti-CD47 immunotherapy for medulloblastoma and high-grade glioma

        Raelene Nick Endersby Gottardo R NG BSc (Hons) PhD MBChB FRACP PhD Brainchild Fellow; Co-Head, Brain Tumour Research Co-Head, Brain Tumour Research raelene.endersby@telethonkids.org.au nicholas.gottardo@telethonkids.org.au Co-Head, Brain Tumour ...

        Research

        Development of a nutrition-focussed food outlet classification system

        Gina Heather Trapp Croll GT HC BHSc(Hons1A), RPHNutr, PhD BHSc ARC DECRA Fellow & Head of Food and Nutrition Research Program Coordinator 0410 589 374 08 6319 1469 Gina.Trapp@telethonkids.org.au Heather.McKee@telethonkids.org.au ARC DECRA Fellow & ...

        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

        Reducing the harm caused by radiation for children with brain cancer, including MRI evaluation of impacts of radiation therapy

        Raelene Nick Endersby Gottardo R NG BSc (Hons) PhD MBChB FRACP PhD Brainchild Fellow; Co-Head, Brain Tumour Research Co-Head, Brain Tumour Research raelene.endersby@telethonkids.org.au nicholas.gottardo@telethonkids.org.au Co-Head, Brain Tumour ...

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