Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome ...

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

CDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used. ...

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

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome. ...

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

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable. ...

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

To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• August 2009

Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• June 2009

Amy Jenny Helen Desiree Professor Catherine Finlay-Jones Downs Milroy Silva Elliott AFJ JA HM DS CE BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) BApplSci (physio) MSc PhD MBBS; FRANZCP; CATCAP MBBS, FRACP, MPH, PhD PhD, BSc (OT) ...

• 1. Telethon Kids Institute
• Projects

Amy Andrew Carol Deborah Gail Helen Jenny Kandice Martyn Finlay-Jones Whitehouse Watch and listen to Andrew Bower Strickland Alvares Leonard Downs Varcin Symons AFJ AJ C DH GA HM JA KJ MS BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) ...

• 1. Telethon Kids Institute
• Projects

To investigate developmental trajectories in early childhood and predictors of class assignment. ...

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

This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability. ...

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

To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome. ...

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

Cerebral palsy (CP) is the most common physical disability of childhood worldwide. Historically the diagnosis was made between 12 and 24 months, meaning data about effective early interventions to improve motor outcomes are scant. In high-income countries, two in three children will walk. This evaluator-blinded randomised controlled trial will investigate the efficacy of an early and sustained Goals-Activity-Motor Enrichment approach to improve motor and cognitive skills in infants with suspected or confirmed CP. ...

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