Researchers at the Telethon Kids Institute are one step closer to finding better treatments for a rare disease causing children to have multiple seizures a day. ...

• 1. Telethon Kids Institute
• News & Events
• News & Events at Telethon Kids
• 2016
• October

Life-changing decision helping Samuel to thrive For Perth mum-of-three Natalie Hevron, the word ‘gastrostomy’ is interchangeable with ‘godsend’. She ...

• 1. Telethon Kids Institute
• Our research
• Research Impact
• 2023
• Research translation

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• February 2024

Children with Down syndrome (DS, trisomy 21) are at a significantly higher risk of developing acute leukemia compared to the overall population. Many studies investigating the link between trisomy 21 and leukemia initiation and progression have been conducted over the last two decades. ...

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

Siblings of children with intellectual disability have unique family experiences, varying by type of disability. ...

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

To report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP. ...

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

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

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

To determine the feasibility of an intensive interdisciplinary programme in improving goal and motor outcomes for preschool-aged children with non-progressive neurodisabilities. The primary hypothesis was that the intervention would be feasible. ...

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

To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies. ...

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

Siblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors. ...

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