Overview of Health Issues in School-aged Children with Down Syndrome ...

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

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian... ...

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

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• November 2007

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2007
• February 2007

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT). ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2006
• March 2006

Research Officer ...

• 1. Telethon Kids Institute
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Join Our Sibling Research! Are you a sibling or a parent of a sibling? Would you like to participate in sibling research? Telethon Kids needs your ...

• 1. Telethon Kids Institute
• Projects
• The Sibling Project

Imagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing. ...

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

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families. ...

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

CDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used. ...

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