Variation over time in medical conditions and health service utilization of children with Down syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• February 2011

To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children; ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• November 2010

This paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social influences. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• February 2010

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2). ...

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

Siblings of children with disabilities: challenges and opportunities ...

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

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in... ...

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

More than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect.  ...

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

Optic pathway gliomas (OPGs) are associated with significant risk of visual and endocrine morbidity, but data on long-term outcomes in symptomatic patients is sparse. This study reviews the clinical course, disease progression, survival outcomes and long-term sequelae in pediatric patients with symptomatic OPGs in our institution over three decades. ...

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

Electrical Status epilepticus of sleep (SES) is an EEG pattern where there is significant activation of epileptiform activity in NREM sleep. A spike wave index (SWI) of > 80-85% is often labelled as typical SES. We aimed to explore if sleep during a standard daytime-EEG, as compared an overnight-EEG, was adequate to diagnose ESES. ...

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

Motor features of autism have long been acknowledged by clinicians, researchers, and community stakeholders. Current DSM-5 and ICD-11 guidelines allow clinicians to assign a co-occurring diagnosis of developmental [motor] coordination disorder for autistic individuals with significant motor problems. ...

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