ASD, in the context of prenatal maternal stress exposure, may be associated with a more severe phenotype, particularly when there are multiple prenatal exposures ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• November 2017

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• March 2013

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• October 2010

People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities. ...

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

Using prospective data from the Western Australian Pregnancy Cohort (Raine) Study, we investigated vitamin D status and predictors of serum 25-hydroxyvitamin... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• August 2014

Technology-based interventions may provide a relatively low-cost addition to existing therapist-delivered interventions for children with ASD ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• September 2017

Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• September 2018

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• July 2014

The Australian Autism Biobank was initiated to establish a large-scale repository of biological samples and detailed clinical information about children diagnosed with ASD ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• August 2018

These data provide the first evidence for a broad autism phenotype expressed in a physical characteristic ...

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

Chris Glenn Lea-Ann Peter Ruth Brennan-Jones Pearson Kirkham Richmond Thornton C G LK PC RT PhD BA (Education) PhD Candidate PhD MBBS MRCP(UK) FRACP PhD Head, Ear Health Director of First Nations Strategy and Leadership Co-Head, Bacterial ...

• 1. Telethon Kids Institute
• Projects