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        Research

        Determinants of quality of life in Rett syndrome: New findings on associations with genotype

        Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. ...

        Research

        Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

        Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. ...

        Research

        Caring for a child with severe intellectual disability in China: The example of Rett syndrome

        Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support... ...

        Research

        Early development and regression in Rett syndrome

        Our findings provide additional insight into the early clinical profile of Rett syndrome. ...

        Research

        Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial

        To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome. ...

        Research

        Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

        New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period ...

        Research

        How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: “There's a Lot More to My Child Than That She Can't Wash or Dress Herself.”

        The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers. ...

        Research

        Interobserver Agreement When Diagnosing Hypoventilation in Children With Neuromuscular Disorders

        Neuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders. ...

        Research outputs

         Work in progress: updated 24 July 2019  This web page is currently being developed to provide public access to the DPP's research publications. If ' ...

        News & Events

        Telethon Kids Institute to lead ground-breaking child health research in South Australia

        Telethon Kids Institute's Adelaide facility has been officially opened by South Australian Premier Peter Malinauskas. ...

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