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Research
Down syndrome or Rett syndrome in the family: Parental reflections on sibling experienceSiblings of children with intellectual disability have unique family experiences, varying by type of disability.
Research
How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication SyndromeMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
News & Events
Driving change for children with disabilityToday marks International Day of People with Disability (IDPwD), a United Nations initiative that encourages communities around the world to deepen their awareness, understanding and acceptance of people with disability.
News & Events
Pioneering new treatments for leukaemia in children with Down syndromeA team of world-leading scientists has secured $5 million in funding from the Leukaemia and Lymphoma Society to advance the fight against leukaemia in children with Down syndrome.
News & Events
The Kids researchers finalists in Premier’s Science AwardsThree outstanding The Kids Research Institute Australia researchers have been named finalists in the 2016 Premier's Science Awards
Research
Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.
Research
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver surveyRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.
Research
Hospitalizations Following Complex Hip Surgery in Children with Intellectual Disability: A Self-Controlled Case Series AnalysisTo evaluate the associations between complex hip surgery and subsequent hospitalizations in children with intellectual disability, including a subset of children with cerebral palsy.
Research
Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related FactorsRett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.
Research
Neurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysisEstimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.