CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder. ...

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

Bullying is now regarded as a health problem and not just a disciplinary problem. Increasing evidence shows both traditional bullying (e.g. hitting, teasing) and cyberbullying have lasting effects on young people (both those who bully and those who are bullied), including damage to self-esteem, academic results and mental health. ...

• 1. Telethon Kids Institute
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• Research Topics

Skin infections such as impetigo and scabies are highly contagious, and can lead to serious health complications without treatment. These types of skin infections are major problems in remote Aboriginal communities. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

Asha Bernadette Jonathan Brad Janessa Hannah Ainslie Jacinta Eloise Alexandra Bowen Ricciardo Carapetis AM Farrant Pickering Thomas Poore Walton Delaney Whelan AC BR JR BM Dr HT AP JW ED AW BA MBBS DCH FRACP PhD GAICD OAM MBBS (hon) DCH FACD AM MBBS ...

• 1. Telethon Kids Institute
• Projects

Asha Jonathan Marianne Bowen Carapetis AM Mullane AC JR MM BA MBBS DCH FRACP PhD GAICD AM MBBS FRACP FAFPHM PhD FAHMS BSc (OT) Team Lead, Healthy Skin and ARF Prevention Executive Director; Head, Strep A Translation; Co-Founder of REACH Program ...

• 1. Telethon Kids Institute
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Asha Glenn Marianne Bowen Pearson Mullane AC G MM BA MBBS DCH FRACP PhD GAICD BA (Education) PhD Candidate BSc (OT) Team Lead, Healthy Skin and ARF Prevention Director of First Nations Strategy and Leadership Program Advisor, SToP Trial ...

• 1. Telethon Kids Institute
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Describe the ear and hearing outcomes in Aboriginal infants in an Australian urban area. Aboriginal infants enrolled in the Djaalinj Waakinj prospective cohort study had ear health screenings at ages 2-4, 6-8 and 12-18 months and audiological assessment at ∼12 months of age. Sociodemographic, environmental characteristics, otoscopy, otoacoustic emissions, tympanometry and visual reinforcement audiometry data were collected. ...

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

Felicity Bonnie Ben Austin Furzer Jackson FA BF BJ BScExRehab, MClinExPhys BA/BSc (Hons) PhD BSc (Hons) PhD PhD Candidate Honorary Research Associate Research Theme Head, Brain and Behaviour 0400 198 166 Felicity.Austin@telethonkids.org.au ...

• 1. Telethon Kids Institute
• Projects

Leanne Robyn Karen Karen Sarah Fried Johnston Lombardi Forde Falconer LF RJ KL KF SF BSc DipEd MSpEd EdD BSc, Post Grad Dip, PhD BHSc (Hons), PhD BHlthSc (Hons 1A) BSc, MPH Senior Research Fellow Senior Research Officer Research Fellow Project ...

• 1. Telethon Kids Institute
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There is currently limited data regarding the physical activity behaviors of trans and gender diverse people (including binary and non-binary identities; henceforth trans). The aim of this review was to synthesize the existing literature in this area, with a focus on physical activity behaviors as they relate to health (e.g. health benefits, risks of adverse health outcomes).  ...

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

Streptococcus A is a bacterium often found in the throat and on the skin. ...

• 1. Telethon Kids Institute
• Our research
• Research Topics

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