Helen Emma Andrew Leonard Glasson Whitehouse Watch and listen to Andrew HM EJ AJ MBChB MPH BPsych BSc (Hons) PhD PhD Principal Research Fellow ...

• 1. Telethon Kids Institute
• Our research
• Expertise and technologies
• Bioinformatics

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

Researchers do not know much about what autistic adults, parents and professionals think about support goals for young autistic children. People's views of support goals might also be influenced by their beliefs about early support more generally. This survey involved 87 autistic adults, 159 parents of autistic children and 80 clinical professionals living in New Zealand and Australia. ...

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

In the Australian disability context, the assessment of children with neurodevelopmental conditions’ functioning (across all domains) is of increasing importance, particularly since the introduction of the National Disability Insurance Scheme. Currently, there is wide variability across assessment of functioning practices, including the choice and use of published tools for assessment. ...

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

There is now good evidence that behavioural signs of autism spectrum conditions (autism) emerge over the first two years of life. Identifying clear developmental differences early in life may facilitate earlier identification and intervention that can promote longer-term quality of life. Here we present a systematic review of studies investigating behavioural markers of later autism diagnosis or symptomology taken at 0-6 months. ...

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

The present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• September 2019

Individuals with concurrent first episode of psychosis and ASD can present with distinct clinical characteristics that require specialised assessment and treatment ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• February 2020

Parental experience of TOBY was positive when use of the application aligned with parental proficiency, opportunities for use, and importantly, the needs of the child ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• May 2019

Infants with Tuberous sclerosis complex demonstrated reduced interhemispheric alpha phase coherence compared to controls at 12 months of age ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• December 2019

Several studies have explored relationships between parent broader autism phenotype and offspring communication, and have reported that autistic-like traits in parents are related to offspring communication difficulties and autism severity. However, past research has focused on studying such associations in childhood and we know very little about them in infancy. With accumulating evidence that interventions administered during infancy may be most effective in reducing ASD symptoms, it is imperative to examine whether relationships between parent autistic-like traits and child communication appear even earlier during this critical period of life. ...

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