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

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• March 2008

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD). ...

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

This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder ...

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

Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being ...

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

Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

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