Alexander Larcombe A BScEnv (Hons) PhD Team Leader, Respiratory Environmental Health Team Leader, Respiratory Environmental Health Associate Professor Alexander Larcombe began work at the Telethon Institute in 2005 and is now a Senior Research ...

• 1. Telethon Kids Institute
• Projects

Hayley Melissa Christian O'Donnell HC M BSc (1st Class Hons), PhD W.Aust. BPsych (Hons), MPsych, GradDip Ed, PhD Program Head, Healthy Behaviours and Environments; National Heart Foundation Future Leader Fellow Honorary Research Associate 08 6319 ...

• 1. Telethon Kids Institute
• Projects
• The ARC Centre of Excellence for Children and Families over the Life Course

Manifestations of insistence on sameness and circumscribed interests are complex, with individuals varying considerably, not only in the types of behaviours they express, but also in terms of a behaviour's frequency, intensity, trajectory, adaptive benefits, and impacts. ...

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

The Repetitive Behaviours Questionnaire for Adults (RBQ-2A) measures two factors of restricted and repetitive behaviours (RRBs) associated with autism. However, the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) provides four criteria for RRBs: repetitive motor behaviours, insistence on sameness, restricted interests, and interest in sensory aspects of the environment (or atypical sensitivity). ...

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

Acute leukaemia is the most common childhood malignancy. Almost all cases are classified as acute lymphoblastic leukaemia or acute myeloid leukaemia. Acute leukaemia of ambiguous lineage (ALAL) is a rare form of acute leukaemia that cannot be classified by a single lineage. Like other acute leukaemias, ALAL typically presents with nonspecific symptoms such as fatigue, fever, or bleeding. ...

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

Infant acute lymphoblastic leukemia (ALL) is characterized by a high incidence of KMT2A gene rearrangements and poor outcome. We evaluated the value of minimal residual disease (MRD) in infants with KMT2A-rearranged ALL treated within the Interfant-06 protocol, which compared lymphoid-style consolidation (protocol IB) versus myeloid-style consolidation (araC, daunorubicin, etoposide/mitoxantrone, araC, etoposide). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• January 2021

B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by diverse genomic alterations, the most frequent being gene fusions detected via transcriptomic analysis (mRNA-seq). Due to its hypervariable nature, gene fusions involving the Immunoglobulin Heavy Chain (IGH) locus can be difficult to detect with standard gene fusion calling algorithms and significant computational resources and analysis times are required. We aimed to optimize a gene fusion calling workflow to achieve best-case sensitivity for IGH gene fusion detection. ...

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

Cardiovascular disease and type 2 diabetes mellitus are leading contributors to the health inequity experienced by Aboriginal and Torres Strait Islander peoples, and their antecedents can be identified from early childhood. We aimed to establish the quality of available data and the prevalence of cardiometabolic risk markers among Aboriginal and Torres Strait Islander children and youths (0-24-year-olds) to inform public health approaches. ...

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

Shortage of ear, nose, and throat specialists in public hospitals can result in delays in the detection and management of otitis media. This study introduced a new hospital-based telehealth service, named the Ear Portal, and investigated its role in improving access to specialist care. ...

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

Young children who have developmental delay, autism, or other neurodevelopmental conditions can have difficulties doing things in different areas of their life. What they can and cannot do is called their level of functioning. There are lots of assessment measures that aim to assess functioning. ...

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

T-cell lymphoblastic lymphoma (T-LBL) is a rare and aggressive lymphatic cancer, often diagnosed at a young age. Patients are treated with intensive chemotherapy, potentially followed by a hematopoietic stem cell transplantation. Although prognosis of T-LBL has improved with intensified treatment protocols, they are associated with side effects and 10-20% of patients still die from relapsed or refractory disease. Given this, the search toward less toxic anti-lymphoma therapies is ongoing. ...

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

Atypical facial morphology, particularly increased facial asymmetry, has been identified in some individuals with Autism Spectrum Conditions (ASC). Many cognitive, behavioural and biological features associated with ASC also occur on a continuum in the general population. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• June 2021