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Research

CDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communication Inventory Disability-Observer Reported was developed from a framework of communication derived from parent/caregiver interview data in consultation with disability and communication experts, and after reviewing concepts in existing measures.

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Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.

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Managing bronchiectasis exacerbations is a priority for patients, parents, and caregivers of children with bronchiectasis. However, evidence-based strategies among the pediatric population remain limited.

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Studies reported the prevalence of herbal medicines used for various maternal conditions across regions in Tanzanian communities. However, the lack of a national estimate of herbal medicine use makes it challenging for policymakers, herbal medicine regulators, and healthcare practitioners to make informed decisions on herbal medicine-related policies and practices to optimize their contribution to maternal healthcare.

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Asthma affects > 10% of children in Australia and New Zealand (NZ), with up to 5% of those having severe disease, presenting a management challenge. We aimed to survey tertiary paediatric respiratory services across Australia and NZ using a custom-designed questionnaire, to conduct a cross-sectional observational study of the numbers of children with problematic severe asthma seen, the number treated with biologic therapy, outpatient clinic/multidisciplinary team services available, investigations and tools routinely used and approaches utilised for transition to adult care.

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Autistic children experience significantly higher rates of anxiety compared to nonautistic children. The precise relations between autism characteristics and anxiety symptoms remain unclear in this population. Previous work has explored associations at the domain level, which involve examining broad categories or clusters of symptoms, rather than the relationships between specific symptoms and/or individual characteristics. We addressed this gap by taking a network approach to understand the shared structure of autism characteristics and anxiety symptoms.

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Peanut allergy is the most common childhood-onset, persistent food allergy. Peanut oral immunotherapy (OIT) is a potential treatment, but few studies prospectively examine the outcome of peanut OIT in young children using parent-measured doses compared to standard care (peanut avoidance).

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Local treatment of pelvic Ewing Sarcoma (EWS) is czhallenging due to complex anatomy and potential complications. Local therapy may be deferred to maintain chemotherapy dose-intensity, but the impact of this delay on outcomes remains unclear.

Research

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy (DEE) associated with multiple impairments and comorbidities. Outcome measures for disease-modifying clinical trials for DEEs should measurably capture a spectrum of caregiver priorities and be externally validated.

Research

To evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.