An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

The health and well-being of transgender, non-binary, and gender-diverse people is receiving increasing attention from epidemiologists and public health researchers, including those utilizing longitudinal observational cohort studies. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• December 2023

Airway management is required during general anaesthesia and is essential for life-threatening conditions such as cardiopulmonary resuscitation. Evidence from recent trials indicates a high incidence of critical events during airway management, especially in neonates or infants. It is important to define the optimal techniques and strategies for airway management in these groups. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

Pathogen strain diversity is an important driver of the trajectory of epidemics. The role of bioclimatic factors on the spatial distribution of dengue virus serotypes has, however, not been previously studied. Hence, we developed municipality-scale environmental suitability maps for the four dengue virus serotypes using maximum entropy modeling. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• December 2023

The Perth Empathy Scale (PES) is a 20-item self-report questionnaire that assesses people's ability to recognize emotions in others (i.e., cognitive empathy) and vicariously experience other's emotions (i.e., affective empathy), across positive and negative emotions. Originally developed in English, the aim of our study was to introduce the first Polish version of the PES and test its psychometric performance. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• November 2023

Food allergy is a major public health challenge in Australia. Despite widespread uptake of infant feeding and allergy prevention guidelines the incidence of peanut allergy in infants has not fallen, and prevalence of peanut allergy in school-aged children continues to rise. Therefore, effective and accessible treatments for peanut allergy are required. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• November 2023

Neisseria meningitidis is commensal of the human pharynx and occasionally invades the host, causing the life-threatening illness invasive meningococcal disease. The meningococcus is a highly diverse and adaptable organism thanks to natural competence, a propensity for recombination, and a highly repetitive genome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• December 2023

Streptococcus pyogenes (also known as group A Streptococcus , Strep A) is an obligate human pathogen with significant global morbidity and mortality. Transmission is believed to occur primarily between individuals via respiratory droplets, but knowledge about other potential sources of transmission via aerosols or the environment is limited. Such knowledge is required to design optimal interventions to control transmission, particularly in endemic settings. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• September 2023

CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• September 2023

Describe the ear and hearing outcomes in Aboriginal infants in an Australian urban area. Aboriginal infants enrolled in the Djaalinj Waakinj prospective cohort study had ear health screenings at ages 2-4, 6-8 and 12-18 months and audiological assessment at ∼12 months of age. Sociodemographic, environmental characteristics, otoscopy, otoacoustic emissions, tympanometry and visual reinforcement audiometry data were collected. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• September 2023

Multiple SARS-CoV-2 variants have emerged over the COVID-19 pandemic. The implications for COVID-19 severity in children worldwide are unclear. The objective was to determine whether the dominant circulating SARS-CoV-2 variants of concern (VOCs) were associated with differences in COVID-19 severity among hospitalized children. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• October 2023

CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods. ...

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