People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• December 2022

Children typically experience more mild symptoms of Coronavirus Disease 2019 (COVID-19) when compared to adults. There is a strong body of evidence that children are also less susceptible to Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection with the ancestral viral isolate. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• August 2022

Student bullying behaviours are a significant social issue in schools worldwide. Whilst school staff have access to quality bullying prevention interventions, schools can face significant challenges implementing the whole-school approach required to address the complexity of these behaviours. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• September 2022

Malaria is a serious threat to global health, with over 95 % of the cases reported in 2020 by the World Health Organization in African countries, including Sudan. Sudan is a low-income country with a limited healthcare system and a substantial burden of malaria. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• August 2022

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• August 2022

KMT2A-rearranged infant acute lymphoblastic leukemia (ALL) represents the most refractory type of childhood leukemia. To uncover the molecular heterogeneity of this disease, we perform RNA sequencing, methylation array analysis, whole exome and targeted deep sequencing on 84 infants with KMT2A-rearranged leukemia. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• August 2022

Group A β-haemolytic Streptococcus (GAS), a Gram-positive bacterium, causes skin, mucosal and systemic infections. Repeated GAS infections can lead to autoimmune diseases acute rheumatic fever (ARF) and rheumatic heart disease (RHD). Aboriginal and Torres Strait Islander peoples in Australia have the highest rates of ARF and RHD in the world. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• March 2022

The Australian Technical Advisory Group on Immunisation and New Zealand Ministry of Health recommend all children aged ≥ 5 years receive either of the two mRNA COVID-19 vaccines: Comirnaty (Pfizer), available in both Australia and New Zealand, or Spikevax (Moderna), available in Australia only. Both vaccines are efficacious and safe in the general population, including children. Children and adolescents undergoing treatment for cancer and immunosuppressive therapy for non-malignant haematological conditions are particularly vulnerable, with an increased risk of severe or fatal COVID-19. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

Evidence suggests that individuals with autism spectrum disorder have increased rates of co-occurring psychosis and/or bipolar disorder. Considering the peak age of onset for psychosis and bipolar disorder occurs in adulthood, we investigated the co-occurrence of these disorders in adults with autism. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• March 2022

The heart failure epidemic is growing and its prevention, in order to reduce associated hospital readmission rates and its clinical and economic burden, is a key issue in modern cardiovascular medicine. The present consensus document aims to provide practical evidence-based information to support the implementation of effective preventive measures. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

Influenza immunisation is a highly cost-effective public health intervention. Despite a comprehensive National Immunisation Program, influenza vaccination in children and adolescents with special risk medical conditions (SRMCs) is suboptimal. Flutext-4U is an innovative, multi-component strategy targeting paediatric hospitals, general practice and parents of children and adolescents with SRMC. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

Older adults are significantly less likely than their younger counterparts to engage in physical activity. Comprehensive policies to support healthy ageing thus need to include components encouraging greater participation in physical activity in later life. This study tested potential messages for use in health communication campaigns aimed at increasing physical activity among older adults. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022