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Research
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
Research
Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome familiesFourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.
Research
The diagnostic odyssey to Rett syndrome: The experience of an Australian familyThe diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.
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Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidenceTo develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.
Research
Parental experiences of scoliosis management in Rett syndromeScoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...
News & Events
Hon. Julie Bishop to join Human Vaccines Project boardThe Kids Research Institute Australia Chair Hon. Julie Bishop will join the international Human Vaccines Project’s Board of Directors on its mission to address the next frontier of human health – decoding the human immune system to transform how we prevent, diagnose and treat disease.
Research
Sleep problems in Rett syndromeSleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.
Research
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandComprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
Research
The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome DatabaseThis study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
This year for Childhood Cancer Awareness Month, we got to know the sarcoma research team at Telethon Kids.
While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
News & Events
Help us build a new weapon in the fight against deadly fluAt just two years old, Lucy lost her fight against flu. With your generous help, we can finally beat influenza.
News & Events
AEDC translation toolkit helps schools help kidsA toolkit designed to help schools use AEDC data to inform planning of early childhood programs and encourage engagement with the broader early childhood community is making a difference.
News & Events
It’s powerful: The Cranbrook State School experienceBy his own admission, Cranbrook State School principal Jeffrey Capell was initially resistant to the idea that the school could better support the development of children before they were old enough to actually enrol in school.
News & Events
Lung study helps history-making generation get a handle on their healthA lung function study carried out by Dr Shannon Simpson provided the most comprehensive follow-up of very pre-term children of any study so far carried out on the lung health of this vulnerable group.
News & Events
New school-based intervention to delay and reduce teen alcohol useThe Kids is collaborating with government agencies, parents and school representatives to trial an innovative intervention delivered through schools to increase parents’ knowledge and skills to delay and reduce teenage alcohol use.
News & Events
What life is like living with type 1 diabetesEvery decision a child with type 1 diabetes makes can impact on their blood glucose levels.
News & Events
My child is trans – how do I support them?Raising a child in one gender and then having them identify as another at any stage in their life can be difficult for a parent to understand and is not always an easy shift for a parent to make.