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

The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up. ...

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

Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life. ...

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

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

We aimed to review original research which described factors impacting the health of primary care-givers of children with Autism or Intellectual Disability ...

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

Mental health conditions and problems are often reported in children and adolescents with CP. A systematic review was undertaken to describe their prevalence. ...

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

We aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristitics. ...

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

The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. ...

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

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

Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring... ...

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

People with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the general... ...

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

Individuals with the CDKL5 disorder have been described as having severely impaired development. ...

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