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Research
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyThe clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.
Research
Altered attainment of developmental milestones influences the age of diagnosis of rett syndromeThis study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.
Research
The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: A population-based studyIt is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing...
Research
Leisure participation for school-aged children with Down syndromeLeisure participation for school-aged children with Down syndrome.
Research
Physical and mental health of mothers caring for a child with Rett syndromeThis study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
Research
Hip displacement and scoliosis in Rett syndrome - screening is requiredThe prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management
Research
The impact of having a sibling with an intellectual disability:parental perspectives in two disordersThis study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.
Research
The Sibling ProjectThe Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.
Developmental and epileptic encephalopathy (DEE) conditions are rare, and most have a genetic cause.
News & Events
Funding boost for cancer, antimicrobial resistance, and pain management treatmentsThe Kids Research Institute Australia researchers will share in $2.3 million awarded by the Western Australian Department of Health Innovation Seed Fund.