Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• September 2012

This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome. ...

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

This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome. ...

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

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being. ...

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

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. ...

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

Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• October 2016

Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences. ...

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

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

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

Epidemiologic data on invasive group C/G Streptococcus (iGCGS) infections are sparse internationally. Linked population-level hospital, pathology, and death data were used to describe the disease burden in Western Australia, Australia, during 2000-2018 compared with that of invasive group A Streptococcus (GAS, Streptococcus pyogenes) infections. ...

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

The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation. ...

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

Amy Jenny Susan Desiree Keerthi Finlay-Jones Downs Prescott Silva Kottampally AFJ JA SL DS KK BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) BApplSci (physio) MSc PhD MBBS BMedSci PhD FRACP MBBS, FRACP, MPH, PhD Bsc (Hons), ...

• 1. Telethon Kids Institute
• Projects

Gastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers ...

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