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        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

        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

        Activation of ERBB4 in Glioblastoma Can Contribute to Increased Tumorigenicity and Influence Therapeutic Response

        Despite low ERBB4 mRNA in glioblastoma, the functional effects of increased ERBB4 activation identify ERBB4 as a potential prognostic and therapeutic target ...

        Research

        Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

        Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome ...

        Research

        Caregiver’s attitudes, beliefs, and experiences for influenza vaccination in Australian children with medical comorbidities

        Influenza vaccination recommendation by children’s hospital physicians and previous vaccine receipt in hospital was associated with vaccine uptake ...

        Research

        Oral health experiences of individuals with Rett syndrome: A retrospective study

        Social advantage may provide some protection for dental health in individuals with Rett syndrome ...

        Research

        Re-examining Hepatitis B Postexposure Prophylaxis Following Pediatric Community-acquired Needle-stick Injury in an Era of a National Immunization Registry

        Long-term hepatitis B immunity has been demonstrated following the completion of the primary vaccination series in childhood. Some guidelines recommend a hepatitis B surface antibody (anti-HBs) directed approach following community-acquired needle-stick injury (CANSI) to inform hepatitis B postexposure prophylaxis (PEP) management. ...

        Research

        Hearing loss in Australian First Nations children at 6-monthly assessments from age 12 to 36 months: Secondary outcomes from randomised controlled trials of novel pneumococcal conjugate vaccine schedules

        In Australian remote communities, First Nations children with otitis media (OM)-related hearing loss are disproportionately at risk of developmental delay and poor school performance, compared to those with normal hearing. Our objective was to compare OM-related hearing loss in children randomised to one of 2 pneumococcal conjugate vaccine (PCV) formulations. ...

        Research

        Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

        Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study. ...

        Research

        Pneumo-BNA: Using Bayesian network models to facilitate a microbiological diagnosis in childhood pneumonia: development of a clinical decision support tool

        Christopher Peter Tom Blyth Richmond Snelling CC PC T MBBS (Hons) DCH FRACP FRCPA PhD MBBS MRCP(UK) FRACP BMBS DTMH GDipClinEpid PhD FRACP Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases Epidemiology, ...

        Research

        Immunogenicity of the inactivated influenza vaccine in children who have undergone allogeneic haematopoietic stem cell transplant

        This study provides evidence to support annual inactivated influenza vaccine administration to children following allogeneic haematopoietic stem cell transplant ...

        Research

        Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database

        CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.   ...

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