Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. ...

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

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

Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth.  ...

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

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome ...

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

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

MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk ...

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

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

In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician. ...

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

Prevalence and determinants of sleep problems in Rett syndrome ...

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

A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome ...

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

Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. ...

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

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome. ...

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