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

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

We investigated the literature from 2002 to 2016 describing the risk of ASD, intellectual disability and ADHD in children of refugee and immigrant backgrounds. ...

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

This review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks ...

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

Increased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups ...

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

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

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

Young adults who are lesbian, gay, bisexual, trans, queer or questioning, intersex, asexual and other diverse genders and sexualities (LGBTQIA+) are more likely to experience mental health difficulties and are at significantly elevated risk of substance abuse, self-harm and suicide, relative to their heterosexual, endosex and cisgender peers. There is a need for effective mental health interventions for LGBTQIA+ young adults. Mindful Self-Compassion training is a promising approach; among LGBTQIA+ individuals, self-compassion accounts for more variation in mental health outcomes than bullying, victimization, and adverse childhood experiences combined. Furthermore, LGBTQIA+ individuals with high self-compassion report more positive identity and happiness, less self-stigma, and lower suicidality than those with low self-compassion. ...

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

To understand the prevalence of children and adolescents’ electronic device use (EDU) in the hour before bed and identify sociodemographic groups that are at increased risk of problematic use. ...

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

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

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